INHERITANCE

TermEnriched for the rootEnrichment typeP valueIC# diseasesdiseases# genesgenesassociated chromosomes
Oxytocin signaling pathwayYesN0.01962224.24219

BARAITSER-WINTER SYNDROME 1, WOLFF-PARKINSON-WHITE SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, EPISODIC ATAXIA, TYPE 5, HYPER-IGE RECURRENT INFECTION SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 20, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, PITUITARY DEPENDENT HYPERCORTISOLISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, LEIOMYOMATOSIS AND RENAL CELL CANCER, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONE-ROD DYSTROPHY, X-LINKED, 3, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, BARAITSER-WINTER SYNDROME 2, SPINOCEREBELLAR ATAXIA 14, ?SPINOCEREBELLAR ATAXIA 26, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, [NOVELTY SEEKING PERSONALITY], RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, ATRIAL FIBRILLATION, FAMILIAL, 9, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ?DYSTONIA 23, FRONTOTEMPORAL DEMENTIA, SUPRAVALVAR AORTIC STENOSIS, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, ACNE INVERSA, FAMILIAL, 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MYXOMA, INTRACARDIAC, PSEUDOHYPOPARATHYROIDISM IA, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, MOYAMOYA 6 WITH ACHALASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, ALAND ISLAND EYE DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 36, AORTIC ANEURYSM, FAMILIAL THORACIC 8, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, PEUTZ-JEGHERS SYNDROME, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, NOONAN SYNDROME 9, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SHORT SYNDROME, FAMILIAL COLORECTAL CANCER, ?SPINOCEREBELLAR ATAXIA 41, KERATOSIS, SEBORRHEIC, SOMATIC, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, AURICULOCONDYLAR SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 6, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, OSSEOUS HETEROPLASIA, PROGRESSIVE, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, EPIDERMAL NEVUS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, LISSENCEPHALY 3, KEPPEN-LUBINSKY SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, FUMARASE DEFICIENCY, TIMOTHY SYNDROME, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, NOONAN SYNDROME 4, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OCULOECTODERMAL SYNDROME, LONG QT SYNDROME 13, ?DYSTONIA, JUVENILE-ONSET, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC 6, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE, JUVENILE, TYPE 2, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ALCOHOL DEPENDENCE, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, AURICULOCONDYLAR SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CLOVE SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, ?BLEEDING DISORDER, PLATELET-TYPE, 19, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, OVARIAN DYSGENESIS 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, HYPERPARATHYROIDISM, NEONATAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, OROFACIAL CLEFT 11, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, MALFORMATION OF THE HEART, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, 1NN, ATRIAL STANDSTILL 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, ALZHEIMER DISEASE, TYPE 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, DEAFNESS, AUTOSOMAL DOMINANT 20/26, POLYCYSTIC LIVER DISEASE, MYOPATHY, DISTAL, 4, BLEEDING DISORDER, PLATELET-TYPE, 11, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPERALDOSTERONISM, FAMILIAL, TYPE III, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, GLIOMA SUSCEPTIBILITY 1, ?FIBROMATOSIS, GINGIVAL, 1, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, LONG QT SYNDROME 14, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, IMMUNODEFICIENCY 14, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MENTAL RETARDATION, X-LINKED 90, PICK DISEASE, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, OVARIAN RESPONSE TO FSH STIMULATION, ESSENTIAL HYPERTENSION, RETINAL CONE DYSTROPHY 4, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ATRIAL FIBRILLATION, FAMILIAL, 6, LOEYS-DIETZ SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 1, CARDIOMYOPATHY, DILATED, 1U, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, OVARIAN HYPERSTIMULATION SYNDROME, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

122

CALM1, MPDZ, CACNA2D4, ADCY1, DRD4, PDE4D, MYC, ACTB, GNAS, CACNA1B, PSEN1, AGT, KCNJ6, PRKAR1A, EDN1, BTK, STK11, MYLK2, FH, NPR2, ADRB2, PIK3CA, BMP4, PRKCG, CACNB4, HNRNPA1, IRS1, ADCY6, PRKAG2, GNAI2, PPP2R1B, SMARCB1, ECHS1, KRAS, TRPC3, TUBA1A, NPPA, DRD2, PLA2G2A, CABP4, TNF, CACNA1D, EDNRA, MEF2C, PIK3CD, FSHR, PRKACG, CCND1, CACNA1F, TJP2, CACNB2, GP6, ITPR1, PRKG1, MYH6, CASR, HTR2A, RPS6KA3, STAT3, ADCY5, SOS2, PLIN1, TGFBR1, GNAI3, GABBR2, EEF2, MYLK, SYN1, DMD, KCNJ5, PPP2R1A, GRIN2B, ALOX5, FOXP3, MTOR, AKT1, GNAQ, ITPR2, CFTR, PARK2, TP53, EPS8, AXIN1, MAP2K2, RPS19, ATIC, RAF1, ITPR3, PIK3R5, STAT2, RYR2, GUCY1A3, RUNX2, NRAS, DLG3, KCNMA1, GNAO1, ACTG1, PIK3R2, PRKCSH, ATM, CASK, PLCB1, PRKACA, CACNA1C, NOS3, SLC2A4, SOS1, ACTN4, IL6, ZHX2, CACNA1S, FLNC, MEF2A, KCNJ2, HRAS, EGFR, ACTN2, PIK3R1, SERPINE1, RYR1, PLCB4

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Thyroid hormone signaling pathwayYesN8.37549e-054.85207

VENTRICULAR SEPTAL DEFECT 3, BARAITSER-WINTER SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?LICHTENSTEIN-KNORR SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, EHLERS-DANLOS SYNDROME, TYPE 3, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, VENTRICULAR SEPTAL DEFECT 1, LONG QT SYNDROME 15, MYOTONIC DYSTROPHY 1, SPLENIC HYPOPLASIA, GLUCOCORTICOID RESISTANCE, MYOPIA 23, AUTOSOMAL RECESSIVE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, SPINOCEREBELLAR ATAXIA 14, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIOFACIOCUTANEOUS SYNDROME, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), SUPRAVALVAR AORTIC STENOSIS, AURICULOCONDYLAR SYNDROME 3, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, AORTIC VALVE DISEASE 2, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, POLYDACTYLY, PREAXIAL, TYPE IV, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ADAMS-OLIVER SYNDROME 5, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, THYROID HORMONE RESISTANCE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ?FIBROMATOSIS, GINGIVAL, 1, HAJDU-CHENEY SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LOEYS-DIETZ SYNDROME 3, CAPOS SYNDROME, ESSENTIAL HYPERTENSION, CARDIOMYOPATHY, HYPERTROPHIC, 18, RUBINSTEIN-TAYBI SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 8, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, PARKINSON DISEASE 1, UTERINE LEIOMYOMA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ATRIOVENTRICULAR SEPTAL DEFECT 4, HYPOPLASTIC LEFT HEART SYNDROME 2, KERATOSIS, SEBORRHEIC, SOMATIC, LONG QT SYNDROME 14, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, DYSTONIA 9, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, EPIDERMAL NEVUS, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, LI-FRAUMENI SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HYPOMAGNESEMIA 2, RENAL, EMBERGER SYNDROME, MULLERIAN APLASIA AND HYPERANDROGENISM, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, NOONAN SYNDROME 4, CHOREA, HEREDITARY BENIGN, OCULOECTODERMAL SYNDROME, ATAXIA-TELANGIECTASIA, DYSTONIA-12, RUBINSTEIN-TAYBI SYNDROME 2, ?DYSTONIA, JUVENILE-ONSET, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOSPADIAS 1, X-LINKED, GLIOMA SUSCEPTIBILITY 1, ADRENAL CORTICAL CARCINOMA, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, AURICULOCONDYLAR SYNDROME 1, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, CLOVE SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, ATRIAL SEPTAL DEFECT 2, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, BREAST-OVARIAN CANCER, FAMILIAL 1, SERKAL SYNDROME, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?MYOFIBROMATOSIS, INFANTILE 2, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, OROFACIAL CLEFT 11, DARIER DISEASE, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ALAGILLE SYNDROME 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, SPINOCEREBELLAR ATAXIA 17, OHDO SYNDROME, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, PARKINSON DISEASE 4, INFANTILE MYOFIBROMATOSIS 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, OPITZ-KAVEGGIA SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ANDROGEN INSENSITIVITY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, SECKEL SYNDROME 1, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LATERAL MENINGOCELE SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, LUJAN-FRYNS SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, PAPILLARY THYROID CARCINOMA, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, MICROPHTHALMIA, SYNDROMIC 6, ALLAN-HERNDON-DUDLEY SYNDROME, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, IMMUNODEFICIENCY 21, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, NEPHROTIC SYNDROME, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, BANNAYAN-RILEY-RUVALCABA SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, AU-KLINE SYNDROME, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, BARAITSER-WINTER SYNDROME 2, ACROKERATOSIS VERRUCIFORMIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

97

CALM1, TSC2, F2, APPL1, MYC, ACTB, PLCD1, PPARG, EDN1, AKT2, ERBB4, MED13L, PIK3CA, BMP4, WNT4, SMAD4, CREBBP, PRKACG, THRB, PTEN, ACE, SMARCA4, MAP2K2, NKX2-5, AR, ATP1B1, NOTCH1, THRA, GATA2, ATP1A2, PIK3CD, STAT2, SLC9A1, CCND1, NKX2-1, EP300, PRKG1, NOTCH3, RB1, FXYD2, SOS2, ITGB3, CTNNB1, HNF1B, IGF1, DVL3, FOXO1, STAT1, SYN1, BRCA1, NR3C1, AKT1, KRAS, ITPR2, TP53, DYRK1A, MED17, LRPAP1, GLI3, SNCA, IL1B, PRKCG, RAF1, PIK3R5, PLN, MYH6, NRAS, SLC2A1, KCNMA1, HNRNPK, ACTG1, ATR, PIK3R2, PLCE1, ATM, GATA4, TBP, DMPK, PLCB1, STAT3, PRKACA, NOTCH2, AKT3, SOS1, MED12, PLCG2, IL6, ATP1A3, SMAD6, HRAS, SLC16A2, SMAD3, ATP2A2, ESR1, PIK3R1, MTOR, PLCB4

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Focal adhesionYesN5.18938e-143.87373

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, HYPER-IGE RECURRENT INFECTION SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CARDIOMYOPATHY, HYPERTROPHIC, 2, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, CARASIL SYNDROME, MIYOSHI MUSCULAR DYSTROPHY 1, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?RETINAL ARTERIES, TORTUOSITY OF, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ?REYNOLDS SYNDROME, ALPHA-2-MACROGLOBULIN DEFICIENCY, ?STEEL SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, CARDIOMYOPATHY, DILATED, 3B, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?GLYCOPROTEIN IA DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, SYNDACTYLY, TYPE III, BENIGN FAMILIAL HEMATURIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, FAMILIAL COLORECTAL CANCER, EPIDERMOLYSIS BULLOSA, PRETIBIAL, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], BURKITT LYMPHOMA, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, MYOPATHY, MYOFIBRILLAR, 5, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, KERATITIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, HEMOCHROMATOSIS TYPE 1, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, GLAUCOMA 1A, PRIMARY OPEN ANGLE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, ?CATARACT 30, PULVERULENT, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, ABCD SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STICKLER SYNDROME, TYPE III, DEAFNESS, AUTOSOMAL DOMINANT 13, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, X-LINKED 30/47, AMELOGENESIS IMPERFECTA, TYPE IH, HETEROTOPIA, PERIVENTRICULAR, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, AORTIC ANEURYSM, FAMILIAL THORACIC 4, CORTICAL MALFORMATIONS, OCCIPITAL, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, ATELOSTEOGENESIS, TYPE I, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MELNICK-NEEDLES SYNDROME, EPIDERMOLYSIS BULLOSA PRURIGINOSA, SPINOCEREBELLAR ATAXIA 14, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, CLEFT PALATE, ISOLATED, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, CARDIOMYOPATHY, DILATED, 1NN, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DYSTONIA 27, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, DEAFNESS, AUTOSOMAL DOMINANT 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NOONAN SYNDROME 9, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, LONG QT SYNDROME 14, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, DEAFNESS, AUTOSOMAL DOMINANT 56, KNOBLOCH SYNDROME 1, DUCHENNE MUSCULAR DYSTROPHY, ADRENAL CORTICAL CARCINOMA, SPONDYLOPERIPHERAL DYSPLASIA, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BECKER MUSCULAR DYSTROPHY, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, COLOBOMA, OCULAR, FIBROCHONDROGENESIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, LEPRECHAUNISM, EPITHELIAL RECURRENT EROSION DYSTROPHY, HYPERPROINSULINEMIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, PIEBALDISM, TRANSIENT BULLOUS OF THE NEWBORN, LYMPHEDEMA, HEREDITARY, ID, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, AVASCULAR NECROSIS OF THE FEMORAL HEAD, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, DEAFNESS, AUTOSOMAL RECESSIVE 53, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, MENTAL RETARDATION, X-LINKED 46, LEGG-CALVE-PERTHES DISEASE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, AORTIC ANEURYSM, FAMILIAL THORACIC 8, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, PSEUDOACHONDROPLASIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?OSTEOGENESIS IMPERFECTA, TYPE X, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, PORETTI-BOLTSHAUSER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, CONGENITAL DIAPHRAGMATIC HERNIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 2, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CARDIOMYOPATHY, HYPERTROPHIC, 3, TOENAIL DYSTROPHY, ISOLATED, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ALPORT SYNDROME, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE III, HOLOPROSENCEPHALY-3, BOOMERANG DYSPLASIA, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, GREENBERG SKELETAL DYSPLASIA, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, EBD, BART TYPE, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BETHLEM MYOPATHY 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, WAGNER SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, VISCERAL MYOPATHY, CORNEAL DYSTROPHY, GROENOUW TYPE I, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LARSEN SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, KOSAKI OVERGROWTH SYNDROME, FIBROCHONDROGENESIS 2, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, DILATED CARDIOMYOPATHY 1DD, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, SMED STRUDWICK TYPE, CORNEAL DYSTROPHY, AVELLINO TYPE, PORENCEPHALY 2, RENAL ADYSPLASIA, ERYTHROCYTOSIS, FAMILIAL, 2, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, WAARDENBURG SYNDROME, TYPE 2D, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, THROMBOCYTOPENIA 5, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, MARSHALL SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, CARDIOMYOPATHY, DILATED, 1JJ, BARAITSER-WINTER SYNDROME 2, PELGER-HUET ANOMALY, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, GILLESPIE SYNDROME, VESICOURETERAL REFLUX 8, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SUPRAVALVAR AORTIC STENOSIS, AURICULOCONDYLAR SYNDROME 3, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, PIERSON SYNDROME, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, OCULODENTODIGITAL DYSPLASIA, AMELOGENESIS IMPERFECTA, TYPE IA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, NEPHROTIC SYNDROME, TYPE 8, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, STICKLER SYNDROME, TYPE I, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, CAFFEY DISEASE, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, ?DEAFNESS, X-LINKED 6, ?BARDET-BIEDL SYNDROME 11, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, STICKLER SYNDROME, TYPE II, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?MYOSCLEROSIS, CONGENITAL, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, OPTIC NERVE HYPOPLASIA, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, PCWH SYNDROME, OPITZ GBBB SYNDROME, TYPE I, EHLERS-DANLOS SYNDROME, TYPE IV, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, INFANTILE MYOFIBROMATOSIS 1, VON WILLIBRAND DISEASE, TYPE 3, PREMATURE AGING SYNDROME, PENTTINEN TYPE, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, LARYNGOONYCHOCUTANEOUS SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 7, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, SMITH-KINGSMORE SYNDROME, ATELOSTEOGENESIS, TYPE III, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

196

CALM1, COL10A1, CAV1, SMAD3, MYC, MID1, ACTB, LBR, IGBP1, COL3A1, ITGB6, LAMB1, AGT, A2M, COL11A2, CDK5, SPARC, CDH1, DDR2, SOX10, F2, AKT2, HGF, ITGA3, COL4A5, VIM, SPTAN1, LAMB2, ADRB2, TRIM32, VEGFC, PIK3CA, TGFBI, SERPINH1, COL6A3, SNAI2, LAMC2, ARHGDIA, TNXB, CD40, COL2A1, CTNNB1, RAF1, ITGA2, ACE, RASA1, ERBB2, ACAN, MYOC, LAMA4, PAX6, EGFR, COL6A2, IGF2, FLT4, NOS3, IL6, DAG1, COL6A1, TNF, MTOR, LAMA1, MEF2C, COL1A2, PIK3CD, TPM1, COL1A1, COMP, CBL, COL18A1, CCND1, MET, MYOM1, CD40LG, COL4A6, RELN, PDGFRA, TGFBR1, TAF1, COL5A1, ARHGEF6, SPRY2, PTPN1, TNNT2, STAT3, BRAF, INS, TNC, LAMB3, COL7A1, CD44, CAV3, EDN1, FLNC, ITGB3, ITGA8, SOX9, DYSF, IGF1, COL4A1, VWF, PRKG1, COL17A1, MYLK, PDGFRB, LAMA3, DMD, VHL, COL4A4, GRIN2B, BMP2, EDNRB, FN1, CCND2, MMP2, KAT5, PRKDC, FOXO1, IGF1R, MUT, AURKA, DIAPH1, LRP2, RB1CC1, COL27A1, ACTN2, MAPK8IP1, LAMC3, AKT1, SNCA, IL1B, PRKCG, EFNB1, PTEN, MUSK, PIK3R5, PTPRZ1, ITGA6, PLG, MYH6, PFKM, IRS1, FLNA, MYH11, BIN1, PRKCD, COL25A1, TUBG1, ACTG1, KNG1, MYLK2, PIK3R2, TGFB1, LAMA2, COL5A2, CXCR4, SOS2, THBS4, ITGA2B, VCAN, COL11A1, ITGB4, NEB, VPS11, SERPINE1, INSR, NOTCH1, AKT3, PDGFB, SOS1, TP53, ACTN4, COL4A3, DCN, PAK3, PIP5K1C, COL4A2, APP, CD36, ACTN1, FLNB, HRAS, ETV6, GJA1, ITGA7, LRP1, CALR, HTRA1, ALB, HSPG2, ESR1, TGFBR2, PIK3R1, KDR, MTRR, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Influenza AYesN0.0001179323.85273

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, PROSTATE CANCER 1, REVESZ SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, CAMURATI-ENGELMANN DISEASE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPER-IGE RECURRENT INFECTION SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, RETINITIS PIGMENTOSA 11, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, SHORT SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, SELECTIVE T-CELL DEFECT, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, ?IMMUNODEFICIENCY 39, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, BLAU SYNDROME, RETINITIS PIGMENTOSA, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, FECHTNER SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, FRONTOTEMPORAL DEMENTIA, SUPRAVALVAR AORTIC STENOSIS, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, TRIGONOCEPHALY 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, ALZHEIMER DISEASE, TYPE 4, MYXOMA, INTRACARDIAC, {GLIOMA SUSCEPTIBILITY 9}, IMMUNODEFICIENCY 43, ACNE INVERSA, FAMILIAL, 3, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 35, ATRIOVENTRICULAR SEPTAL DEFECT 3, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, HARTSFIELD SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, OCULODENTODIGITAL DYSPLASIA, HYPERPROINSULINEMIA, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SINGLETON-MERTEN SYNDROME 1, SYNDACTYLY, TYPE III, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, NEPHROTIC SYNDROME, TYPE 8, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, LOEYS-DIETZ SYNDROME 3, MUCKLE-WELLS SYNDROME, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, FAMILIAL COLORECTAL CANCER, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, KERATOSIS, SEBORRHEIC, SOMATIC, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SEBASTIAN SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, CORNEAL DYSTROPHY, LATTICE TYPE I, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, EPIDERMAL NEVUS, LEOPARD SYNDROME 1, LONG QT SYNDROME 15, JACKSON-WEISS SYNDROME, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, MYOPATHY, MYOFIBRILLAR, 5, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OSTEOGLOPHONIC DYSPLASIA, LYMPHEDEMA, HEREDITARY, IA, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, THROMBOCYTHEMIA 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOSPADIAS 1, X-LINKED, CARDIOMYOPATHY, DILATED, 1NN, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 15, TRYPSINOGEN DEFICIENCY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, SPINOCEREBELLAR ATAXIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOPLASTIC LEFT HEART SYNDROME 1, {PARKINSON DISEASE 18}, TANGIER DISEASE, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, CALCIUM OXALATE UROLITHIASIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, {LEPROSY, SUSCEPTIBILITY TO}, DEAFNESS, AUTOSOMAL DOMINANT 17, TUBEROUS SCLEROSIS 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LONG QT SYNDROME 14, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, DEAFNESS, AUTOSOMAL DOMINANT 20/26, LOEYS-DIETZ SYNDROME 1, CORNEAL DYSTROPHY, GROENOUW TYPE I, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, INCONTINENTIA PIGMENTI, BARAITSER-WINTER SYNDROME 2, MYOPATHY, DISTAL, 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, ?CATARACT 30, PULVERULENT, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, WOLCOTT-RALLISON SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, METACHONDROMATOSIS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, ANDROGEN INSENSITIVITY, CORNEAL DYSTROPHY, AVELLINO TYPE, CARNEY COMPLEX, TYPE 1, BARAITSER-WINTER SYNDROME 1, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, ?CARDIOMYOPATHY, DILATED, 2A, PAGET DISEASE OF BONE 3, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 7, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, QUEBEC PLATELET DISORDER, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PICK DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LIPOID ADRENAL HYPERPLASIA, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, XERODERMA PIGMENTOSUM, GROUP B, PULMONARY VENOOCCLUSIVE DISEASE 2, CINCA SYNDROME, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, IMMUNODEFICIENCY 36, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, NEPHROTIC SYNDROME, TYPE 6, {CELIAC DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, CARDIOMYOPATHY, DILATED, 1U, SMITH-KINGSMORE SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

155

CALM1, F2, TNNI3, APOB, PRSS1, PRPF31, MAP2K2, POT1, PABPN1, FAS, SQSTM1, IKBKG, CYCS, PSEN1, IGKC, PPARG, CDK5, CD82, PRKAR1A, CDH1, CTNNB1, BTK, EEF1A2, PLAU, B2M, AKT2, CASP8, VIM, FBP1, NFKBIA, PIK3CA, TGFBI, PRF1, ARHGDIA, PDGFRB, DRD2, OAS1, CREBBP, HLA-DQA1, IRS1, ACTA1, PRSS2, ACTB, SMARCA4, APOA1, IL10, CIITA, EGFR, PIK3R5, AR, IFNAR2, IL12B, ERCC3, BAX, LPIN1, MYD88, MTOR, FGFR1, PIK3CD, STAR, EIF4G1, CBL, CCND1, IFNG, STAT1, IRF8, TGFBR1, EP300, HSPD1, TNFRSF1A, SYN1, PTPN1, IFIH1, IGF1, RB1, STAT3, TYK2, INS, IFNGR1, IRF7, GATA1, APP, GJA1, ADAR, LDHA, FLT4, CD40, NEUROD1, HLA-DRB1, TGFB3, IFNGR2, NLRC4, AKT1, EIF2AK4, NGF, DDX58, ATXN1, TP53, HLA-DQB1, IKBKB, DCTN1, HNRNPK, NOS2, CCL2, PTPRO, IL1B, DNAJC3, RAF1, TNFRSF10B, IRF1, NOD2, STAT2, PLG, TLR2, ISG15, TNFSF11, ZAP70, KRT8, PRKCD, AQP5, TLR4, ACTG1, PIK3R2, TGFB1, ATP1B1, PTPN11, CXCR4, MYH9, BCL10, IRF3, NFKB1, NLRP3, CD44, POMC, AKT3, SELE, FADD, BLM, IL6, CDKN1B, TBK1, FLNC, HRAS, FASLG, EIF2AK3, RNASEL, SMAD3, TNF, ESR1, TGFBR2, TINF2, JAK2, SERPINE1, NPM1, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
HTLV-I infectionYesN8.86359e-133.22500

MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, AMYOTROPHIC LATERAL SCLEROSIS 20, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 15, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, SELECTIVE T-CELL DEFECT, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, WAARDENBURG SYNDROME, TYPE 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?IMMUNODEFICIENCY 39, DESMOID DISEASE, HEREDITARY, RETINITIS PIGMENTOSA, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPOPARATHYROIDISM FAMILIAL ISOLATED, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?PROGESTERONE RESISTANCE, MULTIPLE SYNOSTOSES SYNDROME 1, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MACULAR DYSTROPHY, RETINAL, 2, ADAMS-OLIVER SYNDROME 5, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, RIPPLING MUSCLE DISEASE, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, EHLERS-DANLOS SYNDROME, TYPE 3, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, ATRIAL SEPTAL DEFECT 9, ANGELMAN SYNDROME, FAMILIAL COLORECTAL CANCER, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EXUDATIVE VITREORETINOPATHY 1, BURKITT LYMPHOMA, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ?TETRA-AMELIA SYNDROME, VENTRICULAR SEPTAL DEFECT 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HOLT-ORAM SYNDROME, HAY-WELLS SYNDROME, BRACHYDACTYLY, TYPE A1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, CULLER-JONES SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ATRIAL SEPTAL DEFECT 2, BRACHYDACTYLY, TYPE A2, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, TOOTH AGENESIS, SELECTIVE, 1, WITH OR WITHOUT OROFACIAL CLEFT, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HOLOPROSENCEPHALY-3, CRANIOSYNOSTOSIS, TYPE 2, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?FIBROMATOSIS, GINGIVAL, 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, DYSTONIA-PARKINSONISM, X-LINKED, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ?CARDIOMYOPATHY, DILATED, 2A, DEAFNESS, AUTOSOMAL RECESSIVE 39, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, OSTEOGENESIS IMPERFECTA, TYPE XV, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, HETEROTOPIA, PERIVENTRICULAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, CORNEAL DYSTROPHY, AVELLINO TYPE, FOCAL DERMAL HYPOPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMPLEMENT FACTOR D DEFICIENCY, MELNICK-NEEDLES SYNDROME, WEAVER SYNDROME, GLANZMANN THROMBASTHENIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, POLYDACTYLY, PREAXIAL, TYPE IV, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CARDIOMYOPATHY, DILATED, 1NN, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, HOLOPROSENCEPHALY-9, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RETICULATE ACROPIGMENTATION OF KITAMURA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, TOOTH AGENESIS, SELECTIVE, 4, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NOONAN SYNDROME 9, IMMUNODEFICIENCY 19, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, TOOTH AGENESIS, SELECTIVE, 7, LONG QT SYNDROME 14, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, RHEUMATOID ARTHRITIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, TARSAL-CARPAL COALITION SYNDROME, FRAXE, DYSTONIA 9, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SYMPHALANGISM, PROXIMAL, 1A, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, NON-IMMUNE HYDROPS FETALIS, ?IMMUNODEFICIENCY 25, CLEFT PALATE, ISOLATED, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ADRENAL CORTICAL CARCINOMA, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, SPONDYLOPERIPHERAL DYSPLASIA, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CORNEAL DYSTROPHY, GROENOUW TYPE I, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, OROFACIAL CLEFT 11, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PULMONARY HYPERTENSION, PRIMARY, 3, ?IMMUNODEFICIENCY 22, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CORNEAL FLECK DYSTROPHY, AORTIC ANEURYSM, FAMILIAL THORACIC 6, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, HYPERPROINSULINEMIA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, IRIDOGONIODYSGENESIS, TYPE 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AVASCULAR NECROSIS OF THE FEMORAL HEAD, LYMPHEDEMA, HEREDITARY, ID, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, ADULT SYNDROME, ?PARKINSONISM WITH SPASTICITY, X-LINKED, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, PARIETAL FORAMINA 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, LOEYS-DIETZ SYNDROME 4, LEOPARD SYNDROME 1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, DEJERINE-SOTTAS DISEASE, CONGENITAL DIAPHRAGMATIC HERNIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, AORTIC VALVE DISEASE 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, IMMUNODEFICIENCY 43, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, SPLIT-HAND/FOOT MALFORMATION 6, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, RETINITIS PIGMENTOSA 38, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FILS SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {GLIOBLASTOMA 3}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, AXENFELD-RIEGER SYNDROME, TYPE 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, LIMB-MAMMARY SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LISSENCEPHALY 3, SERKAL SYNDROME, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, KAPPA LIGHT CHAIN DEFICIENCY, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, LOEYS-DIETZ SYNDROME 5, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, OCULOECTODERMAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, ODONTOONYCHODERMAL DYSPLASIA, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, CORNELIA DE LANGE SYNDROME 1, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CROUZON SYNDROME, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, [PREMATURE CHROMATID SEPARATION TRAIT], AYME-GRIPP SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 46XY SEX REVERSAL 6, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SMED STRUDWICK TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, RETINITIS PIGMENTOSA 41, RING DERMOID OF CORNEA, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, PREMATURE AGING SYNDROME, PENTTINEN TYPE, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, BRACHYDACTYLY, TYPE B1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, HYPERPARATHYROIDISM 1, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CZECH DYSPLASIA, IMMUNODEFICIENCY 21, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CONE-ROD DYSTROPHY 2, GLUCOCORTICOID RESISTANCE, BARAITSER-WINTER SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, STICKLER SYNDROME, TYPE I, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SUPRAVALVAR AORTIC STENOSIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, APLASIA OF LACRIMAL AND SALIVARY GLANDS, TRIGONOCEPHALY 1, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, PSEUDOHYPOPARATHYROIDISM IC, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEUKODYSTROPHY, HYPOMYELINATING, 4, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, HYPERFERRITINEMIA-CATARACT SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ATRIOVENTRICULAR SEPTAL DEFECT 4, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, JACKSON-WEISS SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, WAARDENBURG SYNDROME, TYPE 3, MYOPATHY, DISTAL, TATEYAMA TYPE, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, SCHOPF-SCHULZ-PASSARGE SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, THROMBOCYTHEMIA 3, CHOREA, HEREDITARY BENIGN, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, IMMUNODEFICIENCY 33, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LI-FRAUMENI SYNDROME, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, SED CONGENITA, KNIEST DYSPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ENCEPHALOPATHY, NEONATAL SEVERE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CHOROID PLEXUS PAPILLOMA, INFANTILE MYOFIBROMATOSIS 1, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, PANCREATIC CANCER/MELANOMA SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CATARACT 21, MULTIPLE TYPES, ?MYOPATHY, SCAPULOHUMEROPERONEAL, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, TIETZ ALBINISM-DEAFNESS SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, DYSAUTONOMIA, FAMILIAL, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, SMITH-KINGSMORE SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 7, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

262

CALM1, SOD1, BRCA2, EZH2, CAV1, TNNI3, CD3D, CTNNA1, MYC, MAP3K1, ACTB, GNAS, KRAS, IKBKG, GLI3, COL1A2, MSX1, SMARCA4, RPL5, FTL, TERT, IGKC, PPARG, LEP, OTX2, ALB, CDH1, WNT5A, CD40, CFD, B2M, AKT2, CDKN2A, NOG, EGR2, HGF, PRF1, RAB7A, TGFBR1, COL1A1, MERTK, HLA-DQA1, NFKBIA, PIK3CA, TGFBI, SOS1, NOTCH1, BMP4, TGFBR2, HNRNPA1, PDGFRB, SMAD4, ADCY6, POMC, MSX2, GNAI2, IL2RG, MUSK, BCKDHA, ACTA1, CSF2RB, TGFB2, ACVR1, CNTN2, RUNX1, CBL, TUBA1A, EGFR, FGF9, IRF1, WRN, TCF7L2, NRAS, THRA, CD3G, LRP1, GLI2, BUB1B, CIITA, MTOR, FGFR1, PRKACG, CD3E, EDA, TAF6, MECP2, PIK3CD, FZD4, IFNG, MRE11A, RASSF1, LYZ, CCND1, CD247, JAK2, PROM1, PIKFYVE, NKX2-1, WNT3, WNT1, MEN1, ITPR1, VEGFC, HSPD1, ROR2, SPRY2, ACTA2, WNT10A, GSC, IL10, TNFRSF11A, IRF8, TP63, ADCY5, AXIN2, PTPRC, INS, LRP6, IRF7, PAX8, GATA1, CAV3, CD44, ITGB3, AGL, SHH, CTNNB1, IL2RA, WNT7A, GABBR2, RB1, EP300, IGF1, DVL3, NOS2, TAF1, PAX2, INSR, HLA-DRB1, TGFB3, FLNA, CASR, NFKB2, CD82, PPP2R1A, BMP2, FOXP3, TNFRSF1A, BRCA1, ITGB2, AKT1, CCND2, FZD6, KAT5, TBX5, CFTR, TNFRSF13C, TP53, GFI1, HLA-C, SLC25A4, IKBKB, AXIN1, EPHB2, IHH, T, HLA-G, POLD1, FN1, CSNK1D, GATA6, IL1B, MITF, BAX, PTEN, PAX3, PIK3R5, MAF, IRS2, TRAC, ITGA6, PLG, RUNX2, COL2A1, USH2A, LCK, RAF1, SLC2A1, ZAP70, NGF, CD40LG, AURKA, CHEK2, PGR, TLR4, ACTG1, ATR, CSF1R, PIK3R2, TGFB1, PRKCSH, PTPN11, ATM, SOS2, JAK3, RRAS2, DVL1, FGF10, IRF3, STAT1, NFKB1, STAT3, MT-CO2, GATA5, FLT3, HLA-B, NOS3, AKT3, POLE, PITX2, UQCRC2, DNMT1, CXCR4, FGFR2, CREBBP, IL6, IKBKAP, ATP6AP2, PIK3R1, ZHX2, GATA4, PDGFRA, PCNA, SERPINA1, SMAD6, SLC9A3R1, TBP, ACTN1, APC, HRAS, GDNF, HLA-DQB1, CDK4, ACTN2, WNT4, SELE, PRKACA, CALR, SMAD3, ADAM10, NR3C1, HSPG2, TNF, ESR1, ADCY1, PDGFB, KDR, SERPINE1, PORCN, GATA2, WNT10B, MMP2

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Hepatitis BYesN0.005065184.6164

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 20, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, IMMUNODEFICIENCY 15, SHORT SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CATARACT 16, MULTIPLE TYPES, IMMUNODEFICIENCY 38, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?IMMUNODEFICIENCY 39, BLAU SYNDROME, SPINOCEREBELLAR ATAXIA 14, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, DEJERINE-SOTTAS DISEASE, SUPRAVALVAR AORTIC STENOSIS, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, RUBINSTEIN-TAYBI SYNDROME, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, INCONTINENTIA PIGMENTI, HYPERPROINSULINEMIA, PERIODIC FEVER, FAMILIAL, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEMOCHROMATOSIS, TYPE 2B, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, KERATOSIS, SEBORRHEIC, SOMATIC, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], BURKITT LYMPHOMA, TUBEROUS SCLEROSIS 2, EPIDERMAL NEVUS, XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, LISSENCEPHALY 3, IMMUNODEFICIENCY 36, LI-FRAUMENI SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, APLASIA OF LACRIMAL AND SALIVARY GLANDS, POLYCYTHEMIA VERA, SOMATIC, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, THROMBOCYTHEMIA 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OCULOECTODERMAL SYNDROME, ALZHEIMER DISEASE-2, IMMUNODEFICIENCY 33, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CARDIOMYOPATHY, DILATED, 1NN, ADRENAL CORTICAL CARCINOMA, CLOVE SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {LEPROSY, SUSCEPTIBILITY TO}, HEMOCHROMATOSIS TYPE 1, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, PLASMA FIBRONECTIN DEFICIENCY, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LOEYS-DIETZ SYNDROME 5, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, LOEYS-DIETZ SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?CATARACT 30, PULVERULENT, 46XY SEX REVERSAL 6, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, THROMBOCYTOPENIA 5, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, MYOPATHY, MYOFIBRILLAR, 2, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, MYHRE SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, THROMBOCYTOPENIA 4, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, SEA-BLUE HISTIOCYTE DISEASE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LOEYS-DIETZ SYNDROME 4, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

103

APOE, MYC, IFIH1, FAS, CDK6, IKBKG, PIK3CA, ACTN1, IRF7, CDK5, CDH1, AKT2, EGR2, CASP8, VIM, NFKBIA, CYCS, PRF1, HNRNPA1, TBK1, PTEN, TGFB2, KRAS, MAP2K2, CREBBP, ISG15, BAX, TNF, MYD88, MTOR, PIK3CD, IFNG, IL10, CCND1, JAK2, TGFBR1, EP300, HSPD1, TNFRSF1A, CDT1, PTPN1, NLRP1, PCNA, STAT3, INS, IRF1, DDX3X, GABBR2, SMAD4, ETV6, DDB2, STAT1, TGFB3, AKT1, SMARCA4, DDX58, AURKA, TP53, FASLG, IKBKB, CD40, TUBA1A, FN1, IL1B, PRKCG, RAF1, PIK3R5, NOD2, STAT2, TLR2, RB1, NRAS, IRF5, NGF, PRKCD, NOS2, TLR4, KNG1, CASP10, TGFB1, PIK3R2, CXCR4, FGF10, IRF3, NFKB1, MAP3K1, HAMP, AKT3, FADD, IL6, CDKN1B, CRYAB, HCFC1, HRAS, EGFR, CDK4, ACTN2, SMAD3, HSPG2, ESR1, PDGFB, SERPINE1, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 22, 3, 4, 5, 6, 7, 8, 9, X0
MeaslesYesN1.75171e-064.5193

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, GLUCOCORTICOID RESISTANCE, ?IMMUNODEFICIENCY 39, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, BARAITSER-WINTER SYNDROME 2, BLAU SYNDROME, RETINITIS PIGMENTOSA, FECHTNER SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, SUPRAVALVAR AORTIC STENOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 35, ATRIOVENTRICULAR SEPTAL DEFECT 3, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, CATARACT 21, MULTIPLE TYPES, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, MENTAL RETARDATION, X-LINKED 102, SINGLETON-MERTEN SYNDROME 1, SYNDACTYLY, TYPE III, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, IMMUNODEFICIENCY 19, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, KERATOSIS, SEBORRHEIC, SOMATIC, LONG QT SYNDROME 14, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SEBASTIAN SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, EPIDERMAL NEVUS, LONG QT SYNDROME 15, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, THROMBOCYTHEMIA 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CLOVE SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOPLASTIC LEFT HEART SYNDROME 1, TANGIER DISEASE, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, CALCIUM OXALATE UROLITHIASIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {LEPROSY, SUSCEPTIBILITY TO}, DEAFNESS, AUTOSOMAL DOMINANT 17, EPSTEIN SYNDROME, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, INFANTILE MYOFIBROMATOSIS 1, AYME-GRIPP SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, LOEYS-DIETZ SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, MAY-HEGGLIN ANOMALY, WOLCOTT-RALLISON SYNDROME, METACHONDROMATOSIS, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, RETINITIS PIGMENTOSA 11, ADRENAL CORTICAL CARCINOMA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AICARDI-GOUTIERES SYNDROME 6, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, OSTEOLYSIS, FAMILIAL EXPANSILE, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, QUEBEC PLATELET DISORDER, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, ATAXIA-OCULOMOTOR APRAXIA 3, IMMUNODEFICIENCY 46, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, PULMONARY VENOOCCLUSIVE DISEASE 2, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

120

CALM1, CD3D, PRPF31, MFN2, FAS, CDK6, MYD88, IRF7, CDK5, CDH1, APOB, BTK, B2M, AKT2, TFRC, CASP8, APRT, NFKBIA, PIK3CA, PRF1, GFI1B, TGFBR2, OAS1, CREBBP, IL2RG, PDGFRB, DNM1, IFIH1, RUNX1, IL10, PLAU, PIK3R5, ISG15, IFNAR2, IL12B, IL6, TNF, MTOR, CD3E, PIK3CD, IFNG, CBL, CCND1, JAK2, CD40LG, IRF8, TGFBR1, HSPD1, TNFRSF1A, IRS1, PTPN1, SH2D1A, TNFRSF11A, STAT3, TYK2, IFNGR1, TAB2, CD44, DDX3X, GJA1, IL2RA, ADAR, CD40, STAT1, TNFAIP3, BRCA1, AKT1, CCND2, CFTR, APOA1, TP53, EGFR, NOS2, CDK4, IL1B, BAX, EIF2AK4, TNFRSF10B, IRF1, MAF, NOD2, STAT2, LYZ, TLR2, RB1, LCK, IRF5, IFNGR2, PRKCD, IL4R, AQP5, TLR4, ACTG1, PIK3R2, TGFB1, PTPN11, CXCR4, JAK3, DDX58, MYH9, BCL10, IRF3, NFKB1, CD46, HLA-B, AKT3, FADD, IL13, FCGR2B, PTPRC, CD3G, CDKN1B, TBK1, PCNA, HRAS, FASLG, EIF2AK3, NR3C1, ESR1, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Rap1 signaling pathwayYesN0.0001663413.63341

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, REVESZ SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CORNEAL DYSTROPHY, LATTICE TYPE I, CATARACT 6, MULTIPLE TYPES, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MYHRE SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, SUPRAVALVAR AORTIC STENOSIS, ACHONDROPLASIA, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA WITH COLOBOMA 5, MIRROR MOVEMENTS 1, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA IIB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SPINOCEREBELLAR ATAXIA 14, MYOTUBULAR MYOPATHY, X-LINKED, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, [NOVELTY SEEKING PERSONALITY], KAPPA LIGHT CHAIN DEFICIENCY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, CATSHL SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, LEOPARD SYNDROME 3, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, CONGENITAL DIAPHRAGMATIC HERNIA, CAMURATI-ENGELMANN DISEASE, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, ?PROGESTERONE RESISTANCE, ?CATARACT 45, AURICULOCONDYLAR SYNDROME 3, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {GLIOMA SUSCEPTIBILITY 9}, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, TRICHOMEGALY, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, MACULAR DYSTROPHY, PATTERNED, 2, SPINOCEREBELLAR ATAXIA 27, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, SADDAN, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, LI-FRAUMENI SYNDROME, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, AMYOTROPHIC LATERAL SCLEROSIS 19, MULTIPLE ENDOCRINE NEOPLASIA IIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BENT BONE DYSPLASIA SYNDROME, GLANZMANN THROMBASTHENIA, HOLOPROSENCEPHALY-3, RIPPLING MUSCLE DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, RETICULATE ACROPIGMENTATION OF KITAMURA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CEREBRAL CAVERNOUS MALFORMATIONS-2, ESSENTIAL HYPERTENSION, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HYPERPROINSULINEMIA, MACROCEPHALY/AUTISM SYNDROME, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, FRONTOMETAPHYSEAL DYSPLASIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PARKINSON DISEASE 1, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, URBACH-WIETHE DISEASE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, ?RENAL HYPODYSPLASIA/APLASIA 2, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 3, FAMILIAL COLORECTAL CANCER, BLEEDING DISORDER, PLATELET-TYPE, 15, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, KERATOSIS, SEBORRHEIC, SOMATIC, LONG QT SYNDROME 14, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, BURKITT LYMPHOMA, OCULOECTODERMAL SYNDROME, LONG QT SYNDROME 15, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, OSSEOUS HETEROPLASIA, PROGRESSIVE, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, LADD SYNDROME, SEGAWA SYNDROME, RECESSIVE, MENTAL RETARDATION, X-LINKED 19, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, PAPILLORENAL SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OSTEOGLOPHONIC DYSPLASIA, CARDIOMYOPATHY, HYPERTROPHIC, 11, LYMPHEDEMA, HEREDITARY, IA, TUMOR PREDISPOSITION SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, CLEFT PALATE, ISOLATED, ATRIAL SEPTAL DEFECT 5, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ALPHA-2-MACROGLOBULIN DEFICIENCY, LEPRECHAUNISM, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, HUNTINGTON DISEASE, RENAL TUBULAR DYSGENESIS, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, NEPHROTIC SYNDROME, TYPE 1, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, MYOPIA 23, AUTOSOMAL RECESSIVE, ALAGILLE SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AURICULOCONDYLAR SYNDROME 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, ?MULTIPLE SYNOSTOSES SYNDROME 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ADRENAL CORTICAL CARCINOMA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, DEAFNESS, AUTOSOMAL RECESSIVE 24, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, MALFORMATION OF THE HEART, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CARDIOMYOPATHY, DILATED, 1NN, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, ?BLEEDING DISORDER, PLATELET-TYPE, 18, PULMONARY HYPERTENSION, PRIMARY, 3, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, PLASMA FIBRONECTIN DEFICIENCY, ?IMMUNODEFICIENCY 22, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOCHONDROPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, DEAFNESS, AUTOSOMAL DOMINANT 20/26, PSEUDOHYPOPARATHYROIDISM IA, CORNEAL DYSTROPHY, GROENOUW TYPE I, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, DYSTONIA-11, MYOCLONIC, BLEEDING DISORDER, PLATELET-TYPE, 11, MYOPATHY, DISTAL, TATEYAMA TYPE, METACHONDROMATOSIS, KOSAKI OVERGROWTH SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, LYMPHEDEMA, HEREDITARY, ID, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, CORNEAL DYSTROPHY, AVELLINO TYPE, HETEROTOPIA, PERIVENTRICULAR, BARAITSER-WINTER SYNDROME 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, METACARPAL 4-5 FUSION, PAPILLARY THYROID CARCINOMA, RENAL ADYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 39, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, NOONAN SYNDROME 7, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MAST CELL DISEASE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, QUEBEC PLATELET DISORDER, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, 46,XX SEX REVERSAL, TYPE 2, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, NEPHROTIC SYNDROME, TYPE 3, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, LEOPARD SYNDROME 1, LOEYS-DIETZ SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

193

CALM1, DRD2, MPDZ, DLL4, CAV1, ADCY1, RASGRP2, CTNNA1, FGFR4, POT1, ADRB2, ACTB, FAS, GNAS, TBX19, ACTN1, F2, KRIT1, AGT, IGKC, GNAI3, CD82, CDH1, DRD4, PLAU, UBB, AKT2, FGF3, EPHA2, ERBB4, TGFBR1, EPS8, SPTAN1, ITGA2B, MYC, DNM2, PIK3CA, TGFBI, NOTCH1, DUSP6, JAG1, TEK, ERBB2, ACTC1, IGF1, ADCY6, ECM1, GNAI2, RBPJ, RAF1, ACTA1, SOX9, ACVR1, KRAS, RUNX1, CBL, MAP2K2, SYN2, POMC, NME1, ACTN4, IGF2, NOS3, TNF, MTOR, EDNRA, MEF2C, MET, LEP, PIK3CD, RASSF1, CCND1, PTH, HTT, GP6, VEGFC, BAP1, SPRY2, PTPN1, FGF23, RPS6KA3, FGF5, ADCY5, BRAF, INS, JAM3, GFAP, FCGR2A, CAV3, EDN1, RET, ITGB3, CTNNB1, GRIN2A, SMAD4, FLT4, PAX2, CCM2, PDGFRB, KNG1, OTX2, GRIN2B, HES7, FOXP3, FGF20, ITGB2, RDX, FN1, CCND2, GNAQ, AXIN1, FGFR1, FOXC2, IGF1R, ATXN1, AURKA, TP53, NPHS1, EGFR, NCF2, SIPA1L3, IKBKB, SLC9A3R1, HGF, PRKCD, A2M, AKT1, SNCA, FGF17, PRKCG, EFNB1, PTEN, FGFR3, MUSK, PIK3R5, TH, GNRH1, PLG, KIT, RUNX2, LCK, NRAS, IRS1, FLNA, FGF14, NGF, GNAO1, EPHB2, PGR, HTR1A, ACTG1, CSF1R, PIK3R2, TGFB1, PLCE1, PTPN11, CXCR4, PIP5K1C, FGF9, LRPAP1, CFTR, FGF10, PCLO, PLCB1, STAT3, KITLG, INSR, TCF7L2, AKT3, PDGFB, SPRY4, FGFR2, FGF16, TINF2, IL6, PIK3R1, ZHX2, PDGFRA, BDNF, APP, HRAS, DCC, LRP2, ACTN2, ADA, SMAD3, ADAM10, HSPG2, ESR1, PLCB4, KDR, SERPINE1, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Ras signaling pathwayYesN8.70687e-053.67338

FAMILIAL COLORECTAL CANCER, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, GLUCOCORTICOID RESISTANCE, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, CATARACT 6, MULTIPLE TYPES, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ANEMIA, SIDEROBLASTIC, 4, BEARE-STEVENSON CUTIS GYRATA SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, OTOPALATODIGITAL SYNDROME, TYPE II, SUPRAVALVAR AORTIC STENOSIS, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, PITUITARY DEPENDENT HYPERCORTISOLISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, ATELOSTEOGENESIS, TYPE I, SELECTIVE T-CELL DEFECT, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LYMPHEDEMA, HEREDITARY, IA, MULTIPLE ENDOCRINE NEOPLASIA IIB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, TUMOR PREDISPOSITION SYNDROME, MELNICK-NEEDLES SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SPINOCEREBELLAR ATAXIA 14, RETINITIS PIGMENTOSA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, OVARIAN DYSGENESIS 1, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, CATSHL SYNDROME, LEOPARD SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, CONGENITAL DIAPHRAGMATIC HERNIA, ALEXANDER DISEASE, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, {LEPROSY, SUSCEPTIBILITY TO}, FRONTOMETAPHYSEAL DYSPLASIA, PAGET DISEASE OF BONE 3, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE XII, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, AORTIC VALVE DISEASE 2, ALPHA-2-MACROGLOBULIN DEFICIENCY, PSEUDOPSEUDOHYPOPARATHYROIDISM, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, TRICHOMEGALY, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, HARTSFIELD SYNDROME, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, AMYOTROPHIC LATERAL SCLEROSIS 19, MICROPHTHALMIA WITH COLOBOMA 5, MULTIPLE ENDOCRINE NEOPLASIA IIA, ?FIBROMATOSIS, GINGIVAL, 1, ACHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, LARSEN SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, LIEBENBERG SYNDROME, RETICULATE ACROPIGMENTATION OF KITAMURA, SPINOCEREBELLAR ATAXIA 15, PLASMA FIBRONECTIN DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ESSENTIAL HYPERTENSION, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, OVARIAN HYPERSTIMULATION SYNDROME, PARKINSON DISEASE 1, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 3, [FLECK RETINA, FAMILIAL BENIGN], SYNDACTYLY, TYPE III, IMMUNODEFICIENCY 33, KERATOSIS, SEBORRHEIC, SOMATIC, NEPHROTIC SYNDROME, TYPE 8, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, PARKINSON DISEASE 4, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BRACHYDACTYLY, TYPE E2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, OCULOECTODERMAL SYNDROME, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, LEFT VENTRICULAR NONCOMPACTION 7, MULTIPLE ENDOCRINE NEOPLASIA 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, EPIDERMAL NEVUS, LEOPARD SYNDROME 1, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LI-FRAUMENI SYNDROME, NEUROFIBROMATOSIS, TYPE 1, LADD SYNDROME, SEGAWA SYNDROME, RECESSIVE, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, PAPILLORENAL SYNDROME, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, INFANTILE NEUROAXONAL DYSTROPHY 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, HETEROTOPIA, PERIVENTRICULAR, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, LEPRECHAUNISM, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, MAST CELL DISEASE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SPINOCEREBELLAR ATAXIA 27, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CARDIOMYOPATHY, DILATED, 1NN, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ALAGILLE SYNDROME, BRACHYDACTYLY, TYPE A2, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, ADRENAL CORTICAL CARCINOMA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, MUENKE SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, MYOTONIC DYSTROPHY 2, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, IMMUNODEFICIENCY 15, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, MALFORMATION OF THE HEART, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, GLYCOGEN STORAGE DISEASE VII, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, METACARPAL 4-5 FUSION, CROUZON SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SPINOCEREBELLAR ATAXIA 17, BLEEDING DISORDER, PLATELET-TYPE, 11, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOCHONDROPLASIA, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, INCONTINENTIA PIGMENTI, DYSTONIA-11, MYOCLONIC, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, HYPOPLASTIC LEFT HEART SYNDROME 1, METACHONDROMATOSIS, KOSAKI OVERGROWTH SYNDROME, PANCREATIC CANCER/MELANOMA SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, HYPERPROINSULINEMIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, THROMBOCYTOPENIA 5, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, BOOMERANG DYSPLASIA, PIEBALDISM, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LYMPHEDEMA, HEREDITARY, ID, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, MYOPIA 23, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WATSON SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, RENAL ADYSPLASIA, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, LEUKEMIA, CHRONIC MYELOID, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 39, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, {MELANOMA, CUTANEOUS MALIGNANT, 2}, NOONAN SYNDROME 7, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, PAPILLARY THYROID CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PSEUDOHYPOALDOSTERONISM, TYPE IIE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, MENTAL RETARDATION, X-LINKED 30/47, PSEUDOHYPOALDOSTERONISM, TYPE 2, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYHRE SYNDROME, NEPHROTIC SYNDROME, TYPE 3, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OVARIAN RESPONSE TO FSH STIMULATION, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, BENT BONE DYSPLASIA SYNDROME, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ATELOSTEOGENESIS, TYPE III, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

191

CALM1, LRPAP1, SQSTM1, NFKB1, RASGRP2, GNB4, FGFR4, CNBP, PRKACA, CUL3, IKBKG, KRIT1, GRIN2B, BAX, LEP, CDK5, ARHGEF9, OTX2, PTHLH, SNCA, CDH1, PITX1, AKT2, CDKN2A, CBL, FGF3, EPHA2, NF1, RAB7A, TGFBR1, SPTAN1, ADRB2, PLA2G6, PIK3CA, ACTN4, AURKA, NOTCH1, PRKCG, JAG1, TEK, ERBB2, IGF1, TBK1, EPHB2, ARHGDIA, PRKACG, RBPJ, PTEN, ACTA1, RASA1, ECHS1, KRAS, ERBB3, FSHR, MAP2K2, LHX3, FGF9, CD40, NME1, PLCG2, PLCE1, FLT4, PLA2G2A, GNB3, TNF, TBX19, MTOR, FGFR1, NOS3, PTH, SCARB2, PIK3CD, BAP1, ZHX2, RASSF1, GNAI2, CCND1, MET, GNAS, AVPR2, MEN1, ITPR1, GLUD1, VEGFC, BCR, SPRY2, FGF23, GP6, FGF5, DUSP6, BRAF, INS, GFAP, PAX8, NCF1, EDN1, MIB1, ALDOA, GJA1, GRIN2A, GABBR2, SMAD4, ETV6, PAX2, INSR, PFKM, PDGFRB, HES7, ACVR1, BMP2, FGF20, VPS11, AKT1, CCND2, DRD2, FOXC2, IGF1R, RUNX1, TP53, EGFR, IKBKB, NOS2, HGF, A2M, FN1, RHO, FGF17, ERBB4, IL1B, HSPA9, EFNB1, TUBB3, RAF1, FGFR3, MUSK, PIK3R5, TH, GNRH1, CHRM3, PLG, KIT, TLR2, LCK, NRAS, IRS1, FLNA, FGF14, ZAP70, NGF, PRKCD, PTS, CSF1R, PIK3R2, TGFB1, PLA2G5, CXCR4, SOS2, RRAS2, MAP3K8, FGF10, SPRY4, STAT3, KITLG, FLT3, PTPN11, AKT3, PDGFB, SOS1, FGFR2, FGF16, IL6, PAK3, PDGFRA, BDNF, APP, RET, TBP, SYNGAP1, SERPINE1, HRAS, FASLG, ACTN2, SMAD6, NR0B2, ADAM10, NR3C1, ESR1, PIK3R1, KDR, FLNB, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Hippo signaling pathwayYesN9.84554e-064.06312

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ACNE INVERSA, FAMILIAL, 3, BRACHYDACTYLY, TYPE A1, D, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, CZECH DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, NON-IMMUNE HYDROPS FETALIS, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA WITH COLOBOMA 5, ECTOPIA LENTIS, FAMILIAL, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, DESMOID DISEASE, HEREDITARY, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EXUDATIVE VITREORETINOPATHY 4, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, BURKITT LYMPHOMA, SPINOCEREBELLAR ATAXIA 14, RETINITIS PIGMENTOSA, OROFACIAL CLEFT 11, CARASIL SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, STICKLER SYNDROME, TYPE I, CAMURATI-ENGELMANN DISEASE, WAARDENBURG SYNDROME, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, MICROPHTHALMIA, SYNDROMIC 6, WAARDENBURG SYNDROME, TYPE 2D, FRONTOTEMPORAL DEMENTIA, CONGENITAL DIAPHRAGMATIC HERNIA, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, FRONTOMETAPHYSEAL DYSPLASIA, MULTIPLE SYNOSTOSES SYNDROME 1, ANEMIA, SIDEROBLASTIC, 4, LOEYS-DIETZ SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ALZHEIMER DISEASE, TYPE 4, TRIGONOCEPHALY 1, ESTROGEN RESISTANCE, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, LEUKEMIA, CHRONIC MYELOID, SOMATIC, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, DIAPHANOSPONDYLODYSOSTOSIS, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BRACHYDACTYLY, TYPE C, POLYDACTYLY, PREAXIAL, TYPE IV, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, VAN BUCHEM DISEASE, TYPE 2, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, GLIOMA SUSCEPTIBILITY 1, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, SVEINSSON CHOREORETINAL ATROPHY, HOLOPROSENCEPHALY-9, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, DU PAN SYNDROME, HOLOPROSENCEPHALY-3, HYPERPROINSULINEMIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MISMATCH REPAIR CANCER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ESSENTIAL HYPERTENSION, DIAMOND-BLACKFAN ANEMIA 8, SYMPHALANGISM, PROXIMAL, 1A, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, BRACHYDACTYLY, TYPE A1, C, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, NAXOS DISEASE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, SPLIT-HAND/FOOT MALFORMATION 6, FUHRMANN SYNDROME, FAMILIAL COLORECTAL CANCER, DENYS-DRASH SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 2, OVARIAN HYPERSTIMULATION SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, PITT-HOPKINS SYNDROME, EXUDATIVE VITREORETINOPATHY 1, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, OTOPALATODIGITAL SYNDROME, TYPE II, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, STIFF SKIN SYNDROME, [HEREDITARY PERSISTENCE OF ALPHA-FETOPROTEIN], ACROCAPITOFEMORAL DYSPLASIA, LEBER CONGENITAL AMAUROSIS 17, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TARSAL-CARPAL COALITION SYNDROME, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, LYNCH SYNDROME I, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, HAY-WELLS SYNDROME, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, FACTOR X DEFICIENCY, JACKSON-WEISS SYNDROME, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, LADD SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, BRACHYDACTYLY, TYPE A1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, SCHOPF-SCHULZ-PASSARGE SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LIMB-MAMMARY SYNDROME, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, CULLER-JONES SYNDROME, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, LOEYS-DIETZ SYNDROME 5, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BLEEDING DISORDER, PLATELET-TYPE, 15, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, MARFAN LIPODYSTROPHY SYNDROME, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, NEPHROTIC SYNDROME, TYPE 1, LI-FRAUMENI SYNDROME, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?DYSTONIA, JUVENILE-ONSET, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, SED CONGENITA, KNIEST DYSPLASIA, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, HETEROTOPIA, PERIVENTRICULAR, SPONDYLOPERIPHERAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, ATRIAL SEPTAL DEFECT 2, GELEOPHYSIC DYSPLASIA 2, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, AVASCULAR NECROSIS OF THE FEMORAL HEAD, MACROCEPHALY/AUTISM SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, NEUROFIBROMATOSIS, TYPE 2, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE IV, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, CALCIUM OXALATE UROLITHIASIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, PULMONARY VENOOCCLUSIVE DISEASE 1, ODONTOONYCHODERMAL DYSPLASIA, 46,XX SEX REVERSAL, TYPE 2, DEAFNESS, AUTOSOMAL RECESSIVE 24, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, TUBEROUS SCLEROSIS-1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, COLOBOMA, OCULAR, OSTEOGENESIS IMPERFECTA, TYPE III, MYHRE SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, DEAFNESS, AUTOSOMAL DOMINANT 20/26, BARAITSER-WINTER SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, [BONE MINERAL DENSITY VARIABILITY 1], SPONDYLOCOSTAL DYSOSTOSIS 5, POLYCYSTIC LIVER DISEASE, FRASIER SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, ?CATARACT 30, PULVERULENT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ALPHA-FETOPROTEIN DEFICIENCY, ERYTHROCYTOSIS, FAMILIAL, 2, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, LEUKOCYTE ADHESION DEFICIENCY, PIEBALDISM, IRIDOGONIODYSGENESIS, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MUIR-TORRE SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, OLIGODONTIA-COLORECTAL CANCER SYNDROME, NEPHROTIC SYNDROME, TYPE 4, CARDIOMYOPATHY, DILATED, 1U, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), ACROMICRIC DYSPLASIA, ADULT SYNDROME, MULLERIAN APLASIA AND HYPERANDROGENISM, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OVARIAN DYSGENESIS 1, PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY, SPINOCEREBELLAR ATAXIA 12, OSTEOGENESIS IMPERFECTA, TYPE XV, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, MENTAL RETARDATION, X-LINKED 90, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PALLISTER-HALL SYNDROME, CHONDRODYSPLASIA, GREBE TYPE, PICK DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, OVARIAN RESPONSE TO FSH STIMULATION, LEGG-CALVE-PERTHES DISEASE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, RING DERMOID OF CORNEA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ADRENAL CORTICAL CARCINOMA, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, NEPHROTIC SYNDROME, TYPE 6, SERKAL SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, BRACHYDACTYLY, TYPE A2, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, BRACHYDACTYLY, TYPE B1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

149

MPDZ, WNT5A, CTNNA1, MYC, ACTB, GDF6, PSEN1, MLH1, GRIN2B, CDK5, OTX2, PTHLH, PTPRO, CDH1, FRZB, PLG, NOG, WT1, ERBB4, VIM, COL1A1, GDF5, NOTCH1, BMP4, BMPER, PRKCG, SNAI2, TGFBR2, COL2A1, RPS7, ACTA1, WNT7A, NF2, ERBB2, TGFB2, ACVR1, SOX2, RUNX1, GLI2, TEAD1, FGF9, FSHR, ACTN1, TCF7L2, BAX, TNF, FGFR1, EDA, COL1A2, FZD4, CTNNA3, BMPR1A, RASSF1, CCND1, JUP, TGFBR1, EP300, RUNX2, ROR2, T, PPP2R2B, GSC, TP63, AXIN2, ADD1, INS, BMPR2, CD44, CTNNB1, SOX9, YAP1, SMAD4, NLGN3, DVL3, PAX2, TJP2, TGFB3, FLNA, PITX2, VHL, KIF1B, PPP2R1A, BMP2, RDX, F10, BRCA1, ITGB2, AKT1, CCND2, FZD6, AXIN1, DVL1, ERBB3, TP53, NPHS1, FBN1, IHH, GLI3, CSNK1D, PSTPIP1, HSPA9, PTEN, MUSK, STAT3, BCR, IRS1, DLG3, HTRA1, NGF, AURKA, NOS2, PAX3, ACTG1, BMPR1B, WNT3, TGFB1, AMH, GATA4, FGF10, AFP, ESR1, SCRIB, GATA5, TCF4, NOS3, WNT10A, DLC1, DNMT1, LRP5, CRB1, WNT1, PCNA, APP, TBX6, APC, CRB2, EGFR, ACTN2, WNT4, GNRH1, SMAD3, NR3C1, TSC1, WNT10B, KDR, SERPINE1, PORCN, PPP2R1B, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Prolactin signaling pathwayYesN0.0001729595.54121

MULTIPLE FIBROADENOMAS OF THE BREAST, HYPER-IGE RECURRENT INFECTION SYNDROME, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, CARDIOFACIOCUTANEOUS SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SUPRAVALVAR AORTIC STENOSIS, ?HYPERPROLACTINEMIA, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY, COMMON VARIABLE, 12, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PREMATURE OVARIAN FAILURE 7, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ATRIOVENTRICULAR SEPTAL DEFECT 4, FANCONI-BICKEL SYNDROME, KERATOSIS, SEBORRHEIC, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, OPSISMODYSPLASIA, VENTRICULAR SEPTAL DEFECT 1, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SEGAWA SYNDROME, RECESSIVE, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, POLYCYTHEMIA VERA, SOMATIC, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, MODY, TYPE II, OCULOECTODERMAL SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GLIOMA SUSCEPTIBILITY 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, SPERMATOGENIC FAILURE 8, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, GALACTOSEMIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ?FIBROMATOSIS, GINGIVAL, 1, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, SHORT SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, OSTEOLYSIS, FAMILIAL EXPANSILE, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, THROMBOCYTOPENIA 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

66

NRAS, IRF1, TNFSF11, APP, NGF, SLC2A2, LHB, MAP2K2, ADRB2, NR3C1, ETV6, BCL10, PIK3R2, STAT1, KRAS, CCND1, TNF, GCK, NFKB1, INSR, GATA5, LEP, ERBB2, POMC, AKT3, MTOR, GALT, CCND2, CTNNB1, INPPL1, SOS1, ESR1, LHCGR, PIK3CD, IL6, PTH, ERBB3, JAK2, PRKCD, ERBB4, AKT2, IGF2, INS, CD40, TH, GATA4, NR5A1, PIK3CA, TP53, AKT1, HRAS, EGFR, SPRY2, POR, TSHR, GNRH1, RAF1, TNFRSF11A, PIK3R5, PRLR, STAT2, SOS2, CYP17A1, STAT3, IRS1, PIK3R1

1, 10, 11, 12, 13, 14, 17, 18, 19, 2, 20, 21, 3, 4, 5, 6, 7, 8, 90
Hematopoietic cell lineageYesN2.53331e-074.97156

CORNEAL DYSTROPHY, LATTICE TYPE I, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPER-IGE RECURRENT INFECTION SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, CZECH DYSPLASIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?NEUTROPHILIA, HEREDITARY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, SELECTIVE T-CELL DEFECT, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MELNICK-NEEDLES SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, {NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO}, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, STICKLER SYNDROME, TYPE I, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, ACUTE MYELOID LEUKEMIA, M6 TYPE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, OTOPALATODIGITAL SYNDROME, TYPE II, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HAJDU-CHENEY SYNDROME, C3 DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ESSENTIAL HYPERTENSION, ?IMMUNODEFICIENCY 22, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ADAMS-OLIVER SYNDROME 3, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, KERATOSIS, SEBORRHEIC, SOMATIC, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BURKITT LYMPHOMA, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, EPIDERMAL NEVUS, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, KAPPA LIGHT CHAIN DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, IMMUNODEFICIENCY 19, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, CARDIAC VALVULAR DYSPLASIA, X-LINKED, HYPOSPADIAS 1, X-LINKED, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, AVASCULAR NECROSIS OF THE FEMORAL HEAD, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, IMMUNODEFICIENCY, COMMON VARIABLE, 5, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ALAGILLE SYNDROME 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PLASMA FIBRONECTIN DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, CORNEAL DYSTROPHY, GROENOUW TYPE I, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, METACHONDROMATOSIS, PIEBALDISM, SMED STRUDWICK TYPE, CORNEAL DYSTROPHY, AVELLINO TYPE, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, VON WILLEBRAND DISEASE, PLATELET-TYPE, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MAST CELL DISEASE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, LEGG-CALVE-PERTHES DISEASE, CD8 DEFICIENCY, FAMILIAL, IMMUNODEFICIENCY 46, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HETEROTOPIA, PERIVENTRICULAR, IMMUNODEFICIENCY, COMMON VARIABLE, 3, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

91

F2, CD3D, MYC, GP1BA, CD8A, AGT, IGKC, FLT3, CD82, ITGA2B, IL4R, ITGA3, TFRC, MMP1, PIK3CA, TGFBI, MS4A1, PRF1, ERBB2, CD40, COL2A1, CD81, CSF2RB, IL10, IL31RA, AR, ZAP70, NOTCH2, GP1BB, CD3G, IL11RA, TNF, CD3E, LEP, ITGA2, IFNG, CBL, THPO, JAK2, IGHM, CD44, C3, RBPJ, GP9, STAT3, PTPRC, APP, ITGB3, IL7R, IL2RA, IGF1, FLT4, HLA-DRB1, FN1, CCND2, KAT5, FASLG, PLAU, AKT1, IL1B, IL1RN, POMC, ITGA6, KIT, NHP2, LCK, CSF3R, FLNA, MYH11, B2M, CD59, CSF1R, PTPN11, CXCR4, CD46, KITLG, CD19, HLA-B, IL13, IL6, PCNA, CALR, CD36, HLA-C, SELE, EPOR, SMAD3, SELP, CR2, KDR, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
MAPK signaling pathwayYesN8.47096e-063.45384

ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ALZHEIMER DISEASE, TYPE 4, SELECTIVE T-CELL DEFECT, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ENDOCRINE-CEREBROOSTEODYSPLASIA, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ALPHA-2-MACROGLOBULIN DEFICIENCY, MANDIBULOACRAL DYSPLASIA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, TRICHOMEGALY, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS, FAMILIAL SPINAL, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY, COMMON VARIABLE, 12, LEPRECHAUNISM, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, EHLERS-DANLOS SYNDROME, TYPE 3, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, CATARACT 16, MULTIPLE TYPES, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, IMMUNODEFICIENCY 44, FAMILIAL COLORECTAL CANCER, PSEUDOHYPOALDOSTERONISM, TYPE I, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HOLT-ORAM SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, NEUROFIBROMATOSIS, TYPE 1, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, TIMOTHY SYNDROME, NOONAN SYNDROME 4, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CARDIOMYOPATHY, DILATED, 1A, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, ?DYSTONIA 23, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?FIBROMATOSIS, GINGIVAL, 1, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME 7, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, PICK DISEASE, HETEROTOPIA, PERIVENTRICULAR, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ANEMIA, SIDEROBLASTIC, 4, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, ATELOSTEOGENESIS, TYPE I, CONE-ROD DYSTROPHY, X-LINKED, 3, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, LEOPARD SYNDROME 3, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIOMYOPATHY, DILATED, 1NN, ?MULTIPLE SYNOSTOSES SYNDROME 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ALAND ISLAND EYE DISEASE, PERIODIC FEVER, FAMILIAL, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NOONAN SYNDROME 9, ?RENAL HYPODYSPLASIA/APLASIA 2, BEARE-STEVENSON CUTIS GYRATA SYNDROME, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MALFORMATION OF THE HEART, MALOUF SYNDROME, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, METACARPAL 4-5 FUSION, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, EVEN-PLUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, CLEFT PALATE, ISOLATED, MUSCULAR DYSTROPHY, CONGENITAL, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, {MELANOMA, CUTANEOUS MALIGNANT, 3}, COMMON VARIABLE IMMUNODEFICIENCY 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, SPINOCEREBELLAR ATAXIA 1, ADRENAL CORTICAL CARCINOMA, SPINOCEREBELLAR ATAXIA 27, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, HYPOCHONDROPLASIA, SPINOCEREBELLAR ATAXIA 17, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LOEYS-DIETZ SYNDROME 5, INCONTINENTIA PIGMENTI, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HYPERPROINSULINEMIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, BOOMERANG DYSPLASIA, IRIDOGONIODYSGENESIS, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LYMPHEDEMA, HEREDITARY, ID, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, ADULT SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, HEART-HAND SYNDROME, SLOVENIAN TYPE, FACTOR XIIIA DEFICIENCY, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, IMMUNODEFICIENCY, COMMON VARIABLE, 10, MYOPATHY, MYOFIBRILLAR, 2, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SYNDACTYLY, TYPE III, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, DEJERINE-SOTTAS DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, AORTIC VALVE DISEASE 2, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, HOLOPROSENCEPHALY-3, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FANCONI RENOTUBULAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, AXENFELD-RIEGER SYNDROME, TYPE 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, LIMB-MAMMARY SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, PAPILLORENAL SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OCULOECTODERMAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, MYOPIA 23, AUTOSOMAL RECESSIVE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, 46XY SEX REVERSAL 6, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, HAY-WELLS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WATSON SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, APERT SYNDROME, RING DERMOID OF CORNEA, THROMBOCYTOPENIA 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PREMATURE AGING SYNDROME, PENTTINEN TYPE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, EPISODIC ATAXIA, TYPE 5, THANATOPHORIC DYSPLASIA, TYPE II, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, GLUCOCORTICOID RESISTANCE, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HUTCHINSON-GILFORD PROGERIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SUPRAVALVAR AORTIC STENOSIS, PAPILLARY THYROID CARCINOMA, EPISODIC ATAXIA, TYPE 2, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, ACNE INVERSA, FAMILIAL, 3, PITT-HOPKINS SYNDROME, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, TRIGONOCEPHALY 1, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, OCULODENTODIGITAL DYSPLASIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, CATSHL SYNDROME, NEUTROPENIA, CYCLIC, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, JACKSON-WEISS SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, SPINOCEREBELLAR ATAXIA 6, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, OSTEOGLOPHONIC DYSPLASIA, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, IMMUNODEFICIENCY 33, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, {LEPROSY, SUSCEPTIBILITY TO}, {PARKINSON DISEASE 18}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, SPONDYLOCOSTAL DYSOSTOSIS 5, DIABETES INSIPIDUS, NEPHROGENIC, ALEXANDER DISEASE, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PAGET DISEASE OF BONE 3, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, RETINAL CONE DYSTROPHY 4, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, SPINOCEREBELLAR ATAXIA 42, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, BRODY MYOPATHY, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ATELOSTEOGENESIS, TYPE III, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

216

CALM1, SLC34A1, CAV1, FGFR1, RASGRP2, HSPB1, MPDZ, MYC, ICK, POT1, ADRB2, MEF2C, FAS, SQSTM1, IKBKG, CACNA1B, PSEN1, CACNA1C, CACNA2D4, NTF3, AGT, GFAP, PPARG, INSR, CDK5, CDH1, WNT5A, PAK3, PLAU, FGF17, MAP3K8, EGR2, ERBB4, RAB7A, EPS8, FGFR4, PIK3CA, NF1, HSPA9, CACNB4, PDGFRB, CREBBP, MECOM, PRKACG, CTNNB1, RAF1, ACTA1, ACE, RASA1, LDHA, TGFB2, FGFR3, SOX2, ERBB3, IL10, MAP2K2, FGF9, CD40, SP7, ERBB2, NOS3, ATP2A1, LRP1, TNF, CACNA1D, EDNRA, SCNN1A, PTH, LEP, ACTN1, AKT2, KRAS, CDKN1B, EIF4G1, RASSF1, TBX5, CCND1, MAP3K1, CRYAB, CACNA1F, TJP2, CACNB2, HTT, PDGFRA, TGFBR1, ITPR1, VEGFC, HSPD1, TLR2, TNFRSF1A, MAX, SPRY2, PTPN1, FGF23, BDNF, RPS6KA3, FGF5, DUSP6, BRAF, INS, PITX2, SOS2, CD44, TAB2, EDN1, FLNC, ITGB3, CACNA1G, SHH, GJA1, GABBR2, SMAD4, DVL3, F13A1, ETV6, PAX2, STAT1, TGFB3, CACNA1A, NFKB2, HES7, ACVR1, PPP2R1A, GRIN2B, BMP2, FGF20, BRCA1, AKT1, KCNMA1, ELANE, PRKDC, TSC2, PLK4, CFTR, ATXN1, RUNX1, TP53, EGFR, IKBKB, AXIN1, HNRNPK, LRPAP1, T, MAPK8IP1, A2M, FN1, IL1B, PRKCG, PTEN, ECHS1, GNRH1, STAT2, KAT5, PLG, STAT3, RUNX2, NRAS, SMAD3, IRS1, FLNA, FGF14, ZAP70, NGF, PRKCD, NOS2, TLR4, NR3C1, EIF2B1, AQP2, NTRK1, LPL, LMNA, RRAS2, FGF10, TGFB1, NFKB1, TP63, PRKACA, GATA5, TCF4, NOTCH1, AKT3, SOS1, SPRY4, FGF3, ATM, FGFR2, FGF16, IL6, NPM1, STAR, RPL11, DCN, CACNA1S, PCNA, APP, TBP, MEF2A, FLNB, HRAS, FASLG, CDK4, ACTN2, MAPT, SELE, SMAD6, SELP, NR0B2, ALB, ESR1, TGFBR2, PIK3R1, MAD1L1, SERPINE1, PPP2R1B, PDGFB

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Thyroid hormone synthesisYesN0.004006735.35130

DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, LONG QT SYNDROME 15, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYOPIA 23, AUTOSOMAL RECESSIVE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, SPINOCEREBELLAR ATAXIA 14, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, THRYOID DYSHORMONOGENESIS 6, SUPRAVALVAR AORTIC STENOSIS, AURICULOCONDYLAR SYNDROME 3, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, PSEUDOHYPOPARATHYROIDISM IC, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, THYROID DYSHORMONOGENESIS 2A, HYPERPROINSULINEMIA, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CAPOS SYNDROME, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSON DISEASE 1, LOEYS-DIETZ SYNDROME 3, DENYS-DRASH SYNDROME, LONG QT SYNDROME 14, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, AURICULOCONDYLAR SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, DYSTONIA-12, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], OSSEOUS HETEROPLASIA, PROGRESSIVE, EPIDERMAL NEVUS, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HYPOMAGNESEMIA 2, RENAL, PENDRED SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, NOONAN SYNDROME 4, CHOREA, HEREDITARY BENIGN, ALZHEIMER DISEASE-2, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLIOMA SUSCEPTIBILITY 1, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, AURICULOCONDYLAR SYNDROME 1, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, SMALL CELL CANCER OF THE LUNG, SOMATIC, THYROTROPIN-RELEASING HORMONE DEFICIENCY, BRACHYDACTYLY, TYPE A2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, THYROID DYSHORMONOGENESIS 3, VENTRICULAR TACHYCARDIA, IDIOPATHIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, HEMOCHROMATOSIS TYPE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SPINOCEREBELLAR ATAXIA 17, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, FRASIER SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, THYROID DYSHORMONOGENESIS 4, PANCREATIC CANCER/MELANOMA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?FIBROMATOSIS, GINGIVAL, 1, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, NEPHROTIC SYNDROME, TYPE 4, HYPERPROLINEMIA, TYPE I, PAPILLARY THYROID CARCINOMA, THYROID DYSHORMONOGENESIS 5, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, THYROID DYSHORMONOGENESIS 1, MENTAL RETARDATION, X-LINKED 90, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, SEA-BLUE HISTIOCYTE DISEASE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

67

CALM1, APOE, LRPAP1, DLG3, PAX7, PPARG, GNAQ, KCNMA1, ITPR1, IGF1, ADCY6, ATP1B1, GNAS, PRODH, ATM, PRKCG, SELP, TBP, IL6, AGT, ITPR3, MTOR, PLCB1, POU1F1, PRKACA, LEP, DUOX2, SNCA, AKT1, BMP2, SLC5A5, ITPR2, SOS1, PAX8, CREBBP, PRKACG, CDKN2A, ATP1A2, SLC26A4, AGRN, TG, WT1, ATP1A3, HCFC1, TRH, HNF1B, DUOXA2, IYD, EDN1, HRAS, LRP2, TSHB, TSHR, GPX1, CFTR, SMAD3, NKX2-1, SLC9A3R1, TNF, FXYD2, ADCY1, ADCY5, TPO, GNAI2, INS, RB1, PLCB4

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 20, 22, 3, 4, 6, 7, 8, 9, X0
Graft-versus-host diseaseNoN0.00893786.2842

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {PSORIASIS SUSCEPTIBILITY 1}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, METACHONDROMATOSIS, ?IMMUNODEFICIENCY 22, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 43, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, CLOVE SYNDROME, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, KERATOSIS, SEBORRHEIC, SOMATIC, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, EPIDERMAL NEVUS, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, LEOPARD SYNDROME 1

24

LCK, PRF1, IL10, HLA-C, POMC, FAS, IL12B, PIK3CA, PTPN11, HLA-DRB1, TNF, HLA-B, TRAC, B2M, IL6, IFNG, IL1B, HLA-DQB1, CALR, HLA-G, FASLG, CD40, HLA-DQA1, PIK3R1

1, 10, 12, 14, 15, 19, 2, 20, 3, 5, 6, 70
PI3K-Akt signaling pathwayYesN4.1646e-162.92583

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, ?NEUTROPHILIA, HEREDITARY, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?IMMUNODEFICIENCY 39, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, RETINITIS PIGMENTOSA, DYSTONIA-11, MYOCLONIC, CANDIDIASIS, FAMILIAL, 9, CAMURATI-ENGELMANN DISEASE, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, CATSHL SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, KOWARSKI SYNDROME, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?PROGESTERONE RESISTANCE, MULTIPLE SYNOSTOSES SYNDROME 1, ?RETINAL ARTERIES, TORTUOSITY OF, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, LARON DWARFISM, ?STEEL SYNDROME, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, TRICHOMEGALY, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, PEPCK DEFICIENCY, MITOCHONDRIAL, ADAMS-OLIVER SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, VON WILLEBRAND DISEASE, TYPE 1, LEPRECHAUNISM, HYPERPROINSULINEMIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, C3 DEFICIENCY, SPINOCEREBELLAR ATAXIA 15, ?GLYCOPROTEIN IA DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, SYNDACTYLY, TYPE III, BENIGN FAMILIAL HEMATURIA, IMMUNODEFICIENCY 44, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, FAMILIAL COLORECTAL CANCER, LONG QT SYNDROME 14, EPIDERMOLYSIS BULLOSA, PRETIBIAL, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], BURKITT LYMPHOMA, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, HAY-WELLS SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, BRACHYDACTYLY, TYPE A1, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, LYSYL HYDROXYLASE 3 DEFICIENCY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, NOONAN SYNDROME 4, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OPSISMODYSPLASIA, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, KERATITIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, GROWTH HORMONE INSENSITIVITY, PARTIAL, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, TUBEROUS SCLEROSIS-1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, GLAUCOMA 1A, PRIMARY OPEN ANGLE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LATERAL MENINGOCELE SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, CORTICAL MALFORMATIONS, OCCIPITAL, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, ABCD SYNDROME, METACARPAL 4-5 FUSION, DEAFNESS, AUTOSOMAL RECESSIVE 39, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STICKLER SYNDROME, TYPE III, DEAFNESS, AUTOSOMAL DOMINANT 13, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, QUEBEC PLATELET DISORDER, AMELOGENESIS IMPERFECTA, TYPE IH, PICK DISEASE, SCHOPF-SCHULZ-PASSARGE SYNDROME, HETEROTOPIA, PERIVENTRICULAR, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, MULTIPLE FIBROADENOMAS OF THE BREAST, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ANEMIA, SIDEROBLASTIC, 4, AORTIC ANEURYSM, FAMILIAL THORACIC 4, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, ?FIBROMATOSIS, GINGIVAL, 1, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, MUIR-TORRE SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, EPIDERMOLYSIS BULLOSA PRURIGINOSA, BLAU SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LISSENCEPHALY 5, WAARDENBURG SYNDROME, TYPE 2D, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MEIER-GORLIN SYNDROME 5, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, ACUTE MYELOID LEUKEMIA, M6 TYPE, CLEFT PALATE, ISOLATED, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, CARDIOMYOPATHY, DILATED, 1NN, ?MULTIPLE SYNOSTOSES SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, RETICULATE ACROPIGMENTATION OF KITAMURA, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, TOOTH AGENESIS, SELECTIVE, 4, DYSTONIA 27, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, CHOANAL ATRESIA AND LYMPHEDEMA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NOONAN SYNDROME 9, ?RENAL HYPODYSPLASIA/APLASIA 2, JOUBERT SYNDROME 5, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, PSEUDOHYPOALDOSTERONISM, TYPE I, RHEUMATOID ARTHRITIS, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, TARSAL-CARPAL COALITION SYNDROME, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, CORNEAL DYSTROPHY, AVELLINO TYPE, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SEGAWA SYNDROME, RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, EVEN-PLUS SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 56, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, HARTSFIELD SYNDROME, KNOBLOCH SYNDROME 1, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 3}, ?OSTEOGENESIS IMPERFECTA, TYPE XII, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ADRENAL CORTICAL CARCINOMA, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, SPINOCEREBELLAR ATAXIA 27, SPONDYLOPERIPHERAL DYSPLASIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ALAGILLE SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, COLOBOMA, OCULAR, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPOTRICHOSIS 8, CORNEAL DYSTROPHY, GROENOUW TYPE I, INCONTINENTIA PIGMENTI, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, EPITHELIAL RECURRENT EROSION DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, PIEBALDISM, IRIDOGONIODYSGENESIS, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, TRANSIENT BULLOUS OF THE NEWBORN, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, LYMPHEDEMA, HEREDITARY, ID, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, POROKERATOSIS 7, MULTIPLE TYPES, ADULT SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, DEAFNESS, AUTOSOMAL RECESSIVE 53, GLYCOGEN STORAGE DISEASE 0, MUSCLE, TUMOR PREDISPOSITION SYNDROME, LEGG-CALVE-PERTHES DISEASE, FACTOR XIIIA DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, LEOPARD SYNDROME 1, LOEYS-DIETZ SYNDROME 4, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, PSEUDOACHONDROPLASIA, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, CALCIUM OXALATE UROLITHIASIS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEUTZ-JEGHERS SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, PORETTI-BOLTSHAUSER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, CONGENITAL DIAPHRAGMATIC HERNIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, HOLOPROSENCEPHALY-3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPLENIC HYPOPLASIA, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, EBD, BART TYPE, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FANCONI RENOTUBULAR SYNDROME 2, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, LIMB-MAMMARY SYNDROME, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AXENFELD-RIEGER SYNDROME, TYPE 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, SENIOR-LOKEN SYNDROME 6, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LISSENCEPHALY 3, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, COLE-CARPENTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, OCULOECTODERMAL SYNDROME, INFANTILE MYOFIBROMATOSIS 1, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?DYSTONIA, JUVENILE-ONSET, GLYCOGEN STORAGE DISEASE 0, LIVER, VISCERAL MYOPATHY, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, BETHLEM MYOPATHY 1, SMALL CELL CANCER OF THE LUNG, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CARDIOMYOPATHY, DILATED, 1JJ, WISKOTT-ALDRICH SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, ODONTOONYCHODERMAL DYSPLASIA, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, KOSAKI OVERGROWTH SYNDROME, FIBROCHONDROGENESIS 2, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, AGAMMAGLOBULINEMIA 4, ?CATARACT 30, PULVERULENT, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, 46,XX SEX REVERSAL, TYPE 2, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CATARACT 6, MULTIPLE TYPES, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, PORENCEPHALY 2, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, SPINOCEREBELLAR ATAXIA 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, SPERMATOGENIC FAILURE 8, APERT SYNDROME, RING DERMOID OF CORNEA, MASA SYNDROME, CRASH SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PREMATURE AGING SYNDROME, PENTTINEN TYPE, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, MARSHALL SYNDROME, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, THANATOPHORIC DYSPLASIA, TYPE II, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, AMYOTROPHIC LATERAL SCLEROSIS 19, MULTIPLE SULFATASE DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ?HYPERPROLACTINEMIA, GLUCOCORTICOID RESISTANCE, ATELEIOTIC DWARFISM, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CARDIOFACIOCUTANEOUS SYNDROME, GILLESPIE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, VESICOURETERAL REFLUX 8, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SUPRAVALVAR AORTIC STENOSIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, TRIGONOCEPHALY 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RUBINSTEIN-TAYBI SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, PIERSON SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, OCULODENTODIGITAL DYSPLASIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MISMATCH REPAIR CANCER SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, PREMATURE OVARIAN FAILURE 7, HYPERFERRITINEMIA-CATARACT SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, AMELOGENESIS IMPERFECTA, TYPE IA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, LYNCH SYNDROME I, JACKSON-WEISS SYNDROME, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, STICKLER SYNDROME, TYPE I, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPLIT-HAND/FOOT MALFORMATION 1, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, ?DEAFNESS, X-LINKED 6, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, THROMBOCYTHEMIA 3, ALZHEIMER DISEASE-2, IMMUNODEFICIENCY 33, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, STICKLER SYNDROME, TYPE II, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?MYOSCLEROSIS, CONGENITAL, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, OPTIC NERVE HYPOPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, ALCOHOL DEPENDENCE, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?MYOFIBROMATOSIS, INFANTILE 2, {LEPROSY, SUSCEPTIBILITY TO}, PCWH SYNDROME, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, EHLERS-DANLOS SYNDROME, TYPE IV, CHOROID PLEXUS PAPILLOMA, ?PRECOCIOUS PUBERTY, CENTRAL, 1, AGAMMAGLOBULINEMIA 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WAGNER SYNDROME 1, VON WILLIBRAND DISEASE, TYPE 3, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, LARYNGOONYCHOCUTANEOUS SYNDROME, THROMBOCYTOPENIA 4, NEPHROTIC SYNDROME, TYPE 12, MAST CELL DISEASE, MECKEL SYNDROME 4, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 3, HEMOCHROMATOSIS, TYPE 2B, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

341

CALM1, SLC34A1, COL27A1, LAMB1, LAMA1, WNT5A, CDK5, CXCR4, APOE, FGFR4, MAP2K2, PRPH, BLK, ACTB, FAS, IGBP1, IKBKG, PIK3CA, COL3A1, MAPT, ITGB6, CR2, IRF7, FTL, F2, MAG, AGT, TP63, COL11A2, PPARG, MYH11, COL5A1, PIK3R5, ARHGEF9, SOX2, OTX2, IL6, ACAN, PCK2, FGF20, GJA1, SOX10, FGA, IL4R, KISS1R, STK11, AKT2, PTPN14, NOG, P4HB, FGF3, HGF, ITGA3, ERBB4, COL4A5, VIM, TGFB2, RAF1, CDC6, LAMB2, MYC, SHOC2, G6PC, TGFBI, AURKA, PAX6, NOTCH3, PRF1, PDGFRA, JAG1, SNAI2, TEK, ERBB2, SMAD4, TBK1, FLT3, MVD, IL13, GNAI2, IL2RG, RBPJ, COL10A1, TNXB, PLOD3, ITGA2, ACTA1, WNT7A, EDNRA, PAX2, T, PPP2R5D, GH1, ITGA8, LAMA4, RUNX1, IL10, PLAU, EGFR, FGF9, LPAR6, IRF1, DRD2, COL6A2, SP7, IFNAR2, KNG1, FLT4, PIK3R2, GNB3, DAG1, COL6A1, TNF, MYD88, MTOR, FGFR1, CD79B, SCNN1A, MMP1, HMGA1, MET, LEP, PKD1, CEP290, PIK3CD, PRLR, VCAN, COMP, CALR, CBL, OSMR, ADAM10, ITGA6, CCND1, PTH, JAK2, STAT1, COL4A6, NRAS, GNAS, RELN, COL4A2, MIB1, ITPR1, VEGFC, HSPD1, BAP1, IRS1, SPRY2, PTPN1, WNT10A, PPP2R2B, NLRP1, LAMB3, FGF23, PCNA, HTR2A, RPS6KA3, FGF5, DDR2, DUSP6, NOTCH1, INS, TNC, PCK1, SOS2, CD44, HCFC1, GNB4, EDN1, RPSA, TGFBR1, ITGB3, SHH, IL7R, IL2RA, CSF2RB, BLNK, SERPINH1, CTNNB1, EP300, IGF1, COL4A1, TUBA1A, VWF, G6PC3, C3, GHR, INSR, COL17A1, CD40, GYS1, KRAS, PDGFRB, CASR, MYOC, LAMA3, HRG, SOX9, VHL, CD82, COL4A4, PPP2R1A, GRIN2B, BMP2, TSC2, HRAS, BRCA1, AKT1, FN1, CCND2, BIN1, KAT5, PRKDC, ACACA, FOXC2, ABCB11, IGF1R, COL18A1, WAS, TP53, IRS2, RB1CC1, GFAP, IKBKB, CYCS, AQP5, IHH, ACTN2, NUP93, LAMC3, CDH1, RHO, FGF17, COL6A3, IL1B, SELE, HSPA9, EFNB1, CDK6, PTEN, FGFR3, TLR4, HAMP, TH, NOD2, STAT2, BTK, DLX5, PLG, KIT, STAT3, RUNX2, PTPRZ1, SUMF1, COL2A1, LCK, CSF3R, GABBR2, CSF1R, FLNA, MSH2, FGF14, NR0B2, NGF, PRKCD, PIK3R1, EPHB2, PGR, TUBG1, RETN, INPPL1, UBB, ALB, LAMC2, NOS3, NR5A1, TGFB1, IGF2, PTPN11, COL1A1, THBS4, ITGA2B, NOS2, COL11A1, ITGB4, IRF3, RB1, NFKB1, TSC1, KITLG, CD19, IL17RC, AKT3, TBXA2R, PDGFB, SOS1, PITX2, GYS2, ITCH, FGFR2, CREBBP, FGF16, COL4A3, COL5A2, EPHA2, CDKN1B, JAK3, DCN, L1CAM, BDNF, APP, CD36, ACTN1, FOXF1, EDNRB, LAMA2, COL1A2, FASLG, CDK4, ITGA7, LRP1, COL25A1, GNRH1, EPOR, F13A1, SMAD3, TLR2, NR3C1, HSPG2, FGF10, ESR1, TGFBR2, COL7A1, KDR, FOXO1, PROK2, SERPINE1, GCGR, PPP2R1B, ATIC, MMP2

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Human DiseasesYesN1.0359e-120.391973

ATROPHODERMA VERMICULATUM, ROBINOW-SORAUF SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, KOWARSKI SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ACHONDROPLASIA, ?NEUTROPHILIA, HEREDITARY, DUCHENNE MUSCULAR DYSTROPHY, ALOPECIA UNIVERSALIS, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?IMMUNODEFICIENCY 39, DESMOID DISEASE, HEREDITARY, CEROID LIPOFUSCINOSIS NEURONAL 6, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, DYSAUTONOMIA, FAMILIAL, SICKLE CELL ANEMIA, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HYPER-IGE RECURRENT INFECTION SYNDROME, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, CHOANAL ATRESIA AND LYMPHEDEMA, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, ALPHA-2-MACROGLOBULIN DEFICIENCY, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, COFFIN-LOWRY SYNDROME, CORNEA PLANA CONGENITA, RECESSIVE, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, C2 DEFICIENCY, JOUBERT SYNDROME 5, ATRIAL SEPTAL DEFECT 8, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, INCONTINENTIA PIGMENTI, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, HYPERPROINSULINEMIA, HAJDU-CHENEY SYNDROME, SPINOCEREBELLAR ATAXIA 15, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, 46XY SEX REVERSAL 9, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, MICROVILLUS INCLUSION DISEASE, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CARDIOMYOPATHY, HYPERTROPHIC, 25, EHLERS-DANLOS SYNDROME, TYPE 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, ATRIAL SEPTAL DEFECT 9, BENIGN FAMILIAL HEMATURIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, EPIDERMOLYSIS BULLOSA, PRETIBIAL, BURKITT LYMPHOMA, PRADER-WILLI SYNDROME, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, HOLT-ORAM SYNDROME, NEUROFIBROMATOSIS, TYPE 1, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, PARKINSON DISEASE 4, LUSCAN-LUMISH SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, BRACHYDACTYLY, TYPE E2, HYPER-IGD SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), HYPOSPADIAS 1, X-LINKED, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, UV-SENSITIVE SYNDROME 2, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MODY, TYPE III, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, CORNELIA DE LANGE SYNDROME 5, HEMOCHROMATOSIS TYPE 1, MALFORMATION OF THE HEART, SPLIT-HAND/FOOT MALFORMATION 4, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, CRANIOLENTICULOSUTURAL DYSPLASIA, FRONTONASAL DYSPLASIA 2, MECONIUM ILEUS, TUBEROUS SCLEROSIS-1, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, FRAGILE X SYNDROME, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HMG-COA SYNTHASE-2 DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIC, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, ?FIBROMATOSIS, GINGIVAL, 1, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, ?CARDIOMYOPATHY, DILATED, 2A, NOONAN SYNDROME 7, DEAFNESS, AUTOSOMAL RECESSIVE 29, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, CURRARINO SYNDROME, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, MARFAN LIPODYSTROPHY SYNDROME, SYMPHALANGISM, PROXIMAL, 1A, XERODERMA PIGMENTOSUM, GROUP B, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, CARDIOMYOPATHY, DILATED, 1V, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, SPONDYLOCOSTAL DYSOSTOSIS 5, MULTIPLE FIBROADENOMAS OF THE BREAST, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, GLUCOCORTICOID DEFICIENCY 2, OPTIC ATROPHY 1, ?SECKEL SYNDROME 6, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, PANHYPOPITUITARISM, X-LINKED, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, NEMALINE MYOPATHY 5, AMISH TYPE, OVALOCYTOSIS, SA TYPE, KABUKI SYNDROME 2, PIERSON SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, POLYDACTYLY, PREAXIAL, TYPE IV, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, ALAND ISLAND EYE DISEASE, PERIODIC FEVER, FAMILIAL, CONGENITAL DISORDER OF DEGLYCOSYLATION, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, CINCA SYNDROME, SOTOS SYNDROME 1, DEAFNESS, AUTOSOMAL DOMINANT 1, RENAL TUBULAR DYSGENESIS, ?SPINOCEREBELLAR ATAXIA 41, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, PSEUDOHYPOALDOSTERONISM, TYPE I, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ACETYL-COA CARBOXYLASE DEFICIENCY, AMYLOIDOSIS, FINNISH TYPE, HYPERPARATHYROIDISM, FAMILIAL PRIMARY, SEGAWA SYNDROME, RECESSIVE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, IMMUNODEFICIENCY 36, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP C, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, ?INFANTILE LIVER FAILURE SYNDROME 1, DEAFNESS, AUTOSOMAL DOMINANT 56, CRIGLER-NAJJAR SYNDROME, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, CATARACT 5, MULTIPLE TYPES, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 2}, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ADRENAL CORTICAL CARCINOMA, FRAGILE X TREMOR/ATAXIA SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, DOYNE HONEYCOMB DEGENERATION OF RETINA, OROFACIAL CLEFT 11, AMYOTROPHY, HEREDITARY NEURALGIC, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, OHDO SYNDROME, X-LINKED, FIBROCHONDROGENESIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?WAISMAN SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, CORNEAL DYSTROPHY, GROENOUW TYPE I, ?N SYNDROME, BRACHYDACTYLY, TYPE B2, PENDRED'S SYNDROME, IRIDOGONIODYSGENESIS, TYPE 2, TRANSIENT BULLOUS OF THE NEWBORN, BRANCHIOOCULOFACIAL SYNDROME, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, RETINITIS PIGMENTOSA 11, DIABETES INSIPIDUS, NEPHROGENIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, 3MC SYNDROME 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ERYTHROCYTOSIS, FAMILIAL, 3, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, CRANIOSYNOSTOSIS, TYPE 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, FAILURE OF TOOTH ERUPTION, PRIMARY, SJOGREN-LARSSON SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, PSEUDOACHONDROPLASIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, SPHEROCYTOSIS, TYPE 4, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, DIARRHEA 6, LONG QT SYNDROME 13, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, LYMPHEDEMA, HEREDITARY, IA, PARTINGTON SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ANGIOEDEMA, HEREDITARY, TYPE III, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, WAARDENBURG SYNDROME, TYPE 3, METATROPIC DYSPLASIA, PARIETAL FORAMINA 2, {HASHIMOTO THYROIDITIS}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, FACTOR XII DEFICIENCY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, CARDIOMYOPATHY, HYPERTROPHIC, 3, HARTSFIELD SYNDROME, PNEUMOTHORAX, PRIMARY SPONTANEOUS, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, CEREBROOCULOFACIOSKELETAL SYNDROME 3, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, MELNICK-FRASER SYNDROME, GREENBERG SKELETAL DYSPLASIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, VAN DER WOUDE SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PHELAN-MCDERMID SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, SICK SINUS SYNDROME 1, OOCYTE MATURATION DEFECT 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, [BOMBAY PHENOTYPE], CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OSSEOUS HETEROPLASIA, PROGRESSIVE, ROBINOW SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PAPILLORENAL SYNDROME, COLE-CARPENTER SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, ATRIAL SEPTAL DEFECT 5, IMMUNODEFICIENCY 14, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, SMALL CELL CANCER OF THE LUNG, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, TRICHOHEPATOENTERIC SYNDROME 2, [BONE MINERAL DENSITY VARIABILITY 1], TANGIER DISEASE, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, PITUITARY ADENOMA, PROLACTIN-SECRETING, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, MEIER-GORLIN SYNDROME 4, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATRIAL FIBRILLATION 15, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FIBROCHONDROGENESIS 2, OPITZ-KAVEGGIA SYNDROME, DE SANCTIS-CACCHIONE SYNDROME, FRASIER SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 1, AGAMMAGLOBULINEMIA 4, 46,XX SEX REVERSAL, TYPE 2, CATARACT 6, MULTIPLE TYPES, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, GILLESPIE SYNDROME, MYHRE SYNDROME, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, RETINITIS PIGMENTOSA 18, CUTIS LAXA, AD, BRACHYDACTYLY, TYPE A1, SPERMATOGENIC FAILURE 7, STEATOCYSTOMA MULTIPLEX, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, LONG QT SYNDROME-3, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, THROMBOCYTOPENIA 5, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MARSHALL SYNDROME, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, WOLFF-PARKINSON-WHITE SYNDROME, LYMPHEDEMA, HEREDITARY, ID, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, IMMUNODEFICIENCY 21, HEPATIC LIPASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO G6PD DEFICIENCY, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, TOURETTE SYNDROME, {GILLES DE LA TOURETTE SYNDROME, SUSCEPTIBILITY TO}, CONE-ROD DYSTROPHY 2, GLUCOCORTICOID RESISTANCE, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, PELGER-HUET ANOMALY, TRANSALDOLASE DEFICIENCY, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), [EOSINOPHIL PEROXIDASE DEFICIENCY], SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ONCOCYTOMA, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, HUNTINGTON DISEASE, MODY, TYPE I, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, CONE-ROD DYSTROPHY, RETINITIS PIGMENTOSA, JUVENILE, LEBER CONGENITAL AMAUROSIS 4, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, ROTHMUND-THOMSON SYNDROME, NEPHROTIC SYNDROME, TYPE 8, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, UV-SENSITIVE SYNDROME 1, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HEREDITARY PYROPOIKILOCYTOSIS, BJORNSTAD SYNDROME, MENTAL RETARDATION, X-LINKED 46, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, FUMARASE DEFICIENCY, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, HUNTINGTON DISEASE-LIKE 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), RENAL TUBULAR ACIDOSIS WITH DEAFNESS, PLATELET GLYCOPROTEIN IV DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, EPISODIC ATAXIA, TYPE 6, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ECTOPIA LENTIS, FAMILIAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, {PARKINSON DISEASE 18}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, DENTIN DYSPLASIA, TYPE II, RENPENNING SYNDROME, SPERMATOGENIC FAILURE 10, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, CARDIOMYOPATHY, HYPERTROPHIC, 17, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, ATAXIA-OCULOMOTOR APRAXIA 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SPINOCEREBELLAR ATAXIA 42, IMMUNODEFICIENCY 46, MYOGLOBINURIA, RECURRENT, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, ENHANCED S-CONE SYNDROME, SUPRANUCLEAR PALSY, PROGRESSIVE, RETINITIS PIGMENTOSA-40, LONG QT SYNDROME 12, DEAFNESS, AUTOSOMAL DOMINANT 4A, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, AICARDI-GOUTIERES SYNDROME 7, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, LONG QT SYNDROME 15, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 38, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, KERATOSIS PALMOPLANTARIS STRIATA I, AD, SPECIFIC GRANULE DEFICIENCY, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, CARASIL SYNDROME, DANON DISEASE, ABLEPHARON-MACROSTOMIA SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 10, MULTIPLE SYNOSTOSES SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, ?REYNOLDS SYNDROME, ?STEEL SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, TRICHOMEGALY, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, INSOMNIA, FATAL FAMILIAL, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, LEUKODYSTROPHY, HYPOMYELINATING, 11, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, MICROPHTHALMIA, SYNDROMIC 2, MULTIPLE ENDOCRINE NEOPLASIA IIA, LARSEN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, C3 DEFICIENCY, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 18, [BILIRUBIN, SERUM LEVEL OF, QTL1], CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFRONTONASAL DYSPLASIA, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, ?OPTIC ATROPHY 9, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, NAXOS DISEASE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, HYPOTRICHOSIS 4, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, MYOPATHY, MYOFIBRILLAR, 5, HAY-WELLS SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, LYSYL HYDROXYLASE 3 DEFICIENCY, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, PARAGANGLIOMAS 3, IMMUNODEFICIENCY 12, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, CULLER-JONES SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, RETINITIS PIGMENTOSA 59, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, CREATINE PHOSPHOKINASE, ELEVATED SERUM, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, ?WEBB-DATTANI SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, PARKINSON DISEASE, JUVENILE, TYPE 2, ELLIPTOCYTOSIS-2, EIKEN SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOKALEMIC PERIODIC PARALYSIS 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, GALACTOSIALIDOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ?DYSTONIA 23, NAIL-PATELLA SYNDROME, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, IMAGE SYNDROME, BARBER-SAY SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, HYPERALDOSTERONISM, FAMILIAL, TYPE III, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, CORTICAL MALFORMATIONS, OCCIPITAL, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, ABCD SYNDROME, KARTAGENER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, STICKLER SYNDROME, TYPE III, AGAMMAGLOBULINEMIA 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), AMELOGENESIS IMPERFECTA, TYPE IH, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, HOLOPROSENCEPHALY-5, DIAMOND-BLACKFAN ANEMIA 3, IMMUNODEFICIENCY 24, [ECULIZUMAB, POOR RESPONSE TO], EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WEILL-MARCHESANI SYNDROME 2, DOMINANT, TYROSINEMIA, TYPE II, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC, ?MIRROR MOVEMENTS 3, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, CONE-ROD DYSTROPHY, X-LINKED, 3, NIJMEGEN BREAKAGE SYNDROME, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, TREACHER COLLINS SYNDROME 2, BLAU SYNDROME, SPINOCEREBELLAR ATAXIA 14, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, ARTHROGRYPOSIS, DISTAL, TYPE 8, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, PERRAULT SYNDROME 4, PYCNODYSOSTOSIS, CARCINOID TUMORS, INTESTINAL, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, ?OTOFACIOCERVICAL SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 2, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, BRACHYDACTYLY, TYPE C, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, SHPRINTZEN-GOLDBERG SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CARDIOMYOPATHY, DILATED, 1NN, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, CILIARY DYSKINESIA, PRIMARY, 33, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, HEMOCHROMATOSIS, TYPE 2B, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, BRACHYDACTYLY, TYPE A1, C, ICHTHYOSIS VULGARIS, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, NOONAN SYNDROME 9, DENYS-DRASH SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 2, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, SEBASTIAN SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, TARSAL-CARPAL COALITION SYNDROME, FRAXE, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, BEHR SYNDROME, MYOPATHY, TUBULAR AGGREGATE, 2, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, CORNEAL DYSTROPHY, AVELLINO TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, METACARPAL 4-5 FUSION, CORTISONE REDUCTASE DEFICIENCY 2, LI-FRAUMENI SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, RETINITIS PIGMENTOSA 37, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, KNOBLOCH SYNDROME 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, VENTRICULAR SEPTAL DEFECT 3, {MELANOMA, CUTANEOUS MALIGNANT, 3}, IMMUNODEFICIENCY 30, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, PRIMARY LATERAL SCLEROSIS, JUVENILE, NOONAN SYNDROME 10, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 9, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, HYPERALPHALIPOPROTEINEMIA, [HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL 10], OVARIAN DYSGENESIS 1, SPINOCEREBELLAR ATAXIA 11, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, GLYCOGEN STORAGE DISEASE VII, ?IMMUNODEFICIENCY 22, COLOBOMA, OCULAR, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, MENTAL RETARDATION, X-LINKED 19, BRANCHIOOTIC SYNDROME 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, ICHTHYOSIS WITH CONFETTI, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, EPITHELIAL RECURRENT EROSION DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LEUKODYSTROPHY, HYPOMYELINATING, 9, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, {OROFACIAL CLEFT 6}, VON WILLEBRAND DISEASE, PLATELET-TYPE, ?PARKINSONISM WITH SPASTICITY, X-LINKED, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, SENIOR-LOKEN SYNDROME 9, HYPEREKPLEXIA HEREDITARY, LEGG-CALVE-PERTHES DISEASE, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CEROID LIPOFUSCINOSIS, NEURONAL, 11, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, CARDIOMYOPATHY, DILATED, 1U, CEROID LIPOFUSCINOSIS, NEURONAL, 10, PULMONARY VENOOCCLUSIVE DISEASE 2, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, BASAL CELL NEVUS SYNDROME, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, BASAL LAMINAR DRUSEN, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, WAARDENBURG SYNDROME, TYPE 4A, ?OSTEOGENESIS IMPERFECTA, TYPE X, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CONGENITAL DIAPHRAGMATIC HERNIA, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, LOEYS-DIETZ SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), ALZHEIMER DISEASE, TYPE 4, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, IMMUNODEFICIENCY 43, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, TOENAIL DYSTROPHY, ISOLATED, SPINOCEREBELLAR ATAXIA 21, CARDIOMYOPATHY, DILATED, 1HH, ATRICHIA WITH PAPULAR LESIONS, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, ESSENTIAL HYPERTENSION, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PARKINSON DISEASE 1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FANCONI RENOTUBULAR SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {KURU, SUSCEPTIBILITY TO}, {BLEPHAROSPASM, PRIMARY BENIGN}, STIFF SKIN SYNDROME, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, MYOTONIC DYSTROPHY 1, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, ?DYSTONIA, JUVENILE-ONSET, VISCERAL MYOPATHY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, ?CHARGE SYNDROME, CHARGE SYNDROME, JOUBERT SYNDROME 4, COMPLEMENT FACTOR H DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, NASU-HAKOLA DISEASE, RENAL TUBULAR ACIDOSIS, DISTAL, AD, ALPORT SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, [PREMATURE CHROMATID SEPARATION TRAIT], OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, HOLOPROSENCEPHALY 11, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, 46XY SEX REVERSAL 6, MAY-HEGGLIN ANOMALY, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AMINOACYLASE 1 DEFICIENCY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, PORENCEPHALY 2, ?SPERMATOGENIC FAILURE 13, ACROMICRIC DYSPLASIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, NEPHROTIC SYNDROME, TYPE 3, PARAGANGLIOMAS 4, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, RETINITIS PIGMENTOSA 41, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, IMMUNODEFICIENCY 9, RETINITIS PIGMENTOSA 60, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 37, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, ATELEIOTIC DWARFISM, INTERSTITIAL LUNG AND LIVER DISEASE, ZIMMERMANN-LABAND SYNDROME 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MYOPATHY, DISTAL, 4, STICKLER SYNDROME, TYPE I, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, HUTCHINSON-GILFORD PROGERIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, BARDET-BIEDL SYNDROME 3, SPINOCEREBELLAR ATAXIA 28, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AURICULOCONDYLAR SYNDROME 3, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, GLYCOGEN STORAGE DISEASE XII, APLASIA OF LACRIMAL AND SALIVARY GLANDS, CALCIFICATION OF JOINTS AND ARTERIES, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEBER OPTIC ATROPHY AND DYSTONIA, BIRT-HOGG-DUBE SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, AORTIC ANEURYSM, FAMILIAL THORACIC 9, ?SPASTIC PARAPLEGIA 63, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MISMATCH REPAIR CANCER SYNDROME, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, BRUCK SYNDROME 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, ACUTE MYELOID LEUKEMIA, M6 TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MULTIPLE ENDOCRINE NEOPLASIA 1, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, IVIC SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, CAFFEY DISEASE, PACHYONYCHIA CONGENITA 2, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?BARDET-BIEDL SYNDROME 11, THROMBOCYTHEMIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, GLYCINE ENCEPHALOPATHY, ALZHEIMER DISEASE-2, IMMUNODEFICIENCY 33, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CORNELIA DE LANGE SYNDROME 3, SED CONGENITA, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), LYMPHOPROLIFERATIVE SYNDROME 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, GENITOPATELLAR SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, {LEPROSY, SUSCEPTIBILITY TO}, EXUDATIVE VITREORETINOPATHY 4, DEAFNESS, AUTOSOMAL RECESSIVE 24, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, LISSENCEPHALY 3, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, INFANTILE MYOFIBROMATOSIS 1, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BLEEDING DISORDER, PLATELET-TYPE, 11, VENTRICULAR SEPTAL DEFECT 2, DIABETES INSIPIDUS, NEPHROGENIC, PEELING SKIN SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, CILIARY DYSKINESIA, PRIMARY, 16, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LARYNGOONYCHOCUTANEOUS SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, [ACETYLATION, SLOW], TIETZ ALBINISM-DEAFNESS SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MAST CELL DISEASE, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RETINAL CONE DYSTROPHY 4, ATAXIA-OCULOMOTOR APRAXIA 3, KABUKI SYNDROME 1, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, ATRIAL FIBRILLATION, FAMILIAL, 10, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, ATELOSTEOGENESIS, TYPE III, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, VERHEIJ SYNDROME, FACTOR V DEFICIENCY, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, MIRROR MOVEMENTS 1, {PARKINSON DISEASE 8}, C8 DEFICIENCY, TYPE II, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, ODONTOONYCHODERMAL DYSPLASIA, RETINITIS PIGMENTOSA, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, DYSKERATOSIS CONGENITA, X-LINKED, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, PORENCEPHALY 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, ?PROGESTERONE RESISTANCE, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, MANDIBULOACRAL DYSPLASIA, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, SPINOCEREBELLAR ATAXIA 27, IMMUNODEFICIENCY 35, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, VAN BUCHEM DISEASE, TYPE 2, COMBINED HYPERLIPIDEMIA, FAMILIAL, BRUGADA SYNDROME 1, IMMUNODEFICIENCY 11, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, BOHRING-OPITZ SYNDROME, WRINKLY SKIN SYNDROME, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MENTAL RETARDATION, X-LINKED 102, CATARACT 16, MULTIPLE TYPES, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, SPLIT-HAND/FOOT MALFORMATION 6, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, DOWLING-DEGOS DISEASE 1, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, SPEECH-LANGUAGE DISORDER-1, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, LEBER OPTIC ATROPHY, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], CARDIOMYOPATHY, HYPERTROPHIC, 4, CRANIOSYNOSTOSIS 3, ?TETRA-AMELIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, WAARDENBURG SYNDROME, TYPE 4C, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, RETINITIS PIGMENTOSA 13, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, CORNEAL DYSTROPHY, SCHNYDER TYPE, ATRIAL SEPTAL DEFECT 2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AGAMMAGLOBULINEMIA 1, BRACHYDACTYLY, TYPE A2, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, IMMUNODEFICIENCY, COMMON VARIABLE, 13, MYOPATHY, MYOFIBRILLAR, 4, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, GROWTH HORMONE INSENSITIVITY, PARTIAL, MEIER-GORLIN SYNDROME 2, POROKERATOSIS 3, MULTIPLE TYPES, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, [GILBERT SYNDROME], DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, MYOPIA 6, PARKINSON DISEASE 6, EARLY ONSET, MYASTHENIC SYNDROME, CONGENITAL, 16, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, HYPERLYSINEMIA, LIPOPROTEIN LIPASE DEFICIENCY, XERODERMA PIGMENTOSUM, VARIANT TYPE, DICARBOXYLIC AMINOACIDURIA, SMITH-MAGENIS SYNDROME, MENTAL RETARDATION, X-LINKED 72, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, DEAFNESS, X-LINKED 5, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT, METACHONDROMATOSIS, SACCHAROPINURIA, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, SED, MAROTEAUX TYPE, TARP SYNDROME, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE XVII, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, DEAFNESS, AUTOSOMAL DOMINANT 13, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, UROFACIAL SYNDROME 1, BRACHIOOTIC SYNDROME 3, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2, IMMUNODEFICIENCY 20, HETEROTOPIA, PERIVENTRICULAR, PARKINSON DISEASE 21, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, ?RETINITIS PIGMENTOSA 67, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BONE MARROW FAILURE SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, COMPLEMENT FACTOR D DEFICIENCY, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, EPIDERMOLYSIS BULLOSA PRURIGINOSA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, MACHADO-JOSEPH DISEASE, DEAFNESS, AUTOSOMAL DOMINANT 23, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, ALBINISM, OCULOCUTANEOUS, TYPE III, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TOOTH AGENESIS, SELECTIVE, 7, MYXOMA, INTRACARDIAC, EPIDERMOLYTIC HYPERKERATOSIS, WIEDEMANN-STEINER SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 37, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, {AUTISM, SUSCEPTIBILITY TO, 18}, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, THYROID DYSHORMONOGENESIS 2A, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, CARDIOMYOPATHY, DILATED, 1E, OLIGODONTIA-COLORECTAL CANCER SYNDROME, DIAMOND-BLACKFAN ANEMIA 8, CARDIOMYOPATHY, HYPERTROPHIC, 12, VELOCARDIOFACIAL SYNDROME, PRIMARY PULMONARY HYPERTENSION, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, IMMUNODEFICIENCY 19, [BLOOD GROUP, DUFFY SYSTEM], HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, COFFIN-SIRIS SYNDROME 3, RHEUMATOID ARTHRITIS, STRIATONIGRAL DEGENERATION, INFANTILE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), CYLINDROMATOSIS, FAMILIAL, EPIDERMAL NEVUS, HYPOMAGNESEMIA 6, RENAL, VAN DEN ENDE-GUPTA SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, ?OSTEOGENESIS IMPERFECTA, TYPE XII, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NON-IMMUNE HYDROPS FETALIS, ?IMMUNODEFICIENCY 25, EVEN-PLUS SYNDROME, MODY, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LAMB-SHAFFER SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, ACNE INVERSA, FAMILIAL, 1, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, KINDLER SYNDROME, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 57, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, SPONDYLOPERIPHERAL DYSPLASIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, DYSTONIA 25, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ANDERSEN SYNDROME, MICROPHTHALMIA, ISOLATED 8, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, HYPOCHONDROPLASIA, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, SPINOCEREBELLAR ATAXIA 17, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, ?PRUNE BELLY SYNDROME, CORNEAL FLECK DYSTROPHY, DEAFNESS, AUTOSOMAL RECESSIVE 53, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, CEREBELLOFACIODENTAL SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, SESAME SYNDROME, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, IMMUNODEFICIENCY 42, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, CHONDRODYSPLASIA, GREBE TYPE, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, DEAFNESS, AUTOSOMAL DOMINANT 25, ATRIAL FIBRILLATION, FAMILIAL, 6, SEA-BLUE HISTIOCYTE DISEASE, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, XERODERMA PIGMENTOSUM, GROUP D, HERMANSKY-PUDLAK SYNDROME 7, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, PEUTZ-JEGHERS SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, COCKAYNE SYNDROME, TYPE B, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, FECHTNER SYNDROME, ?ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, LEBER CONGENITAL AMAUROSIS 9, ATRANSFERRINEMIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OPSISMODYSPLASIA, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, DIGEORGE SYNDROME, MEVALONIC ACIDURIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, BOOMERANG DYSPLASIA, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, CD8 DEFICIENCY, FAMILIAL, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2, FOVEAL HYPOPLASIA 1, PARKINSONISM-DYSTONIA, INFANTILE, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 9, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, AURICULOCONDYLAR SYNDROME 2, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, LIMB-MAMMARY SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ACROCAPITOFEMORAL DYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, BRACHYDACTYLY, TYPE A1, D, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SERKAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, POLYCYTHEMIA VERA, SOMATIC, TOOTH AGENESIS, SELECTIVE, 3, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, OCULOECTODERMAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, BALLER-GEROLD SYNDROME, ALCOHOL DEPENDENCE, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, LEUKODYSTROPHY, HYPOMYELINATING, 12, CARDIOMYOPATHY, DILATED, 1JJ, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, DUANE-RADIAL RAY SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 70, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, PROUD SYNDROME, ALAGILLE SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 2, PLASMA FIBRONECTIN DEFICIENCY, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, INFANTILE CEREBELLAR-RETINAL DEGENERATION, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, MUIR-TORRE SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, ATRIOVENTRICULAR SEPTAL DEFECT 5, RENAL ADYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, C1R/C1S DEFICIENCY, COMBINED, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, HERMANSKY-PUDLAK SYNDROME 1, LONG QT SYNDROME 1, SPERMATOGENIC FAILURE 8, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, RING DERMOID OF CORNEA, KEPPEN-LUBINSKY SYNDROME, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HETEROTAXY, VISCERAL, 5, SPINOCEREBELLAR ATAXIA 5, EMBERGER SYNDROME, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ADAMS-OLIVER SYNDROME 6, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BARAITSER-WINTER SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, {NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO}, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, WELANDER DISTAL MYOPATHY, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SUPRAVALVAR AORTIC STENOSIS, EPISODIC ATAXIA, TYPE 2, STROMME SYNDROME, SINGLETON-MERTEN SYNDROME 1, ACNE INVERSA, FAMILIAL, 3, {GLIOMA SUSCEPTIBILITY 9}, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, TRIGONOCEPHALY 1, MENTAL RETARDATION, X-LINKED 29 AND OTHERS, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, GLIOMA SUSCEPTIBILITY 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, HYPOTRICHOSIS 2, PERRY SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, ?IMMUNODEFICIENCY 16, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PREMATURE OVARIAN FAILURE 7, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PITUITARY DEPENDENT HYPERCORTISOLISM, SPINOCEREBELLAR ATAXIA 36, AMELOGENESIS IMPERFECTA, TYPE IA, URBACH-WIETHE DISEASE, COWCHOCK SYNDROME, KERATOSIS, SEBORRHEIC, SOMATIC, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MIRROR MOVEMENTS 2, HOLOPROSENCEPHALY-2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, SPINOCEREBELLAR ATAXIA 6, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, PANCREATIC AGENESIS 1, OSTEOGLOPHONIC DYSPLASIA, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, RETINITIS PIGMENTOSA 1, CRIGLER-NAJJAR SYNDROME, TYPE II, CORNELIA DE LANGE SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, QUESTION MARK EARS, ISOLATED, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, AGAMMAGLOBULINEMIA 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, AURICULOCONDYLAR SYNDROME 1, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, MACROCEPHALY/AUTISM SYNDROME, NEUROFIBROMATOSIS, TYPE 2, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MYOFIBROMATOSIS, INFANTILE 2, DARIER DISEASE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, GLAUCOMA 1, OPEN ANGLE, E, WAGNER SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, GLYCOGEN STORAGE DISEASE X, WILSON-TURNER SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ALEXANDER DISEASE, CATARACT 21, MULTIPLE TYPES, PROPERDIN DEFICIENCY, X-LINKED, TREACHER COLLINS SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, NEPHROTIC SYNDROME, TYPE 12, MENTAL RETARDATION, X-LINKED 90, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, RETINITIS PIGMENTOSA 70, DIAMOND-BLACKFAN ANEMIA 7, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, BRODY MYOPATHY, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, AMYOTROPHIC LATERAL SCLEROSIS 20, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, ?MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT (AD), ?MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (AR), IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, SELECTIVE T-CELL DEFECT, MULTIPLE ENDOCRINE NEOPLASIA IIB, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, CARDIOMYOPATHY, HYPERTROPHIC, 2, PULMONARY VENOOCCLUSIVE DISEASE 1, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, DYSTONIA-11, MYOCLONIC, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, CANDIDIASIS, FAMILIAL, 9, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, FRONTOTEMPORAL DEMENTIA, POROKERATOSIS 7, MULTIPLE TYPES, VERTICAL TALUS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, ?RETINAL ARTERIES, TORTUOSITY OF, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, NEUTROPENIA, CYCLIC, ATAXIA-TELANGIECTASIA-LIKE DISORDER, MACULAR DYSTROPHY, RETINAL, 2, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATRIAL FIBRILLATION, FAMILIAL, 3, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, RAPADILINO SYNDROME, BECKWITH-WIEDEMANN SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, SECKEL SYNDROME 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, AORTIC ANEURYSM, FAMILIAL THORACIC 8, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, SYNDACTYLY, TYPE III, IMMUNODEFICIENCY 44, BRUNNER SYNDROME, FANCONI-BICKEL SYNDROME, FAMILIAL COLORECTAL CANCER, OVARIAN HYPERSTIMULATION SYNDROME, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, NOONAN SYNDROME 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIANG DISTAL MYOPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 6, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, KERATITIS, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, RETINITIS PIGMENTOSA 45, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, GLAUCOMA 1A, PRIMARY OPEN ANGLE, EXUDATIVE VITREORETINOPATHY 1, TOOTH AGENESIS, SELECTIVE, 1, WITH OR WITHOUT OROFACIAL CLEFT, CARDIOMYOPATHY, DILATED, 1A, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, MYOPATHY, DISTAL, TATEYAMA TYPE, PLEUROPULMONARY BLASTOMA, COENZYME Q10 DEFICIENCY, PRIMARY, 3, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, DYSTONIA-PARKINSONISM, X-LINKED, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, LEUKEMIA, CHRONIC MYELOID, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 39, IMMUNODEFICIENCY, COMMON VARIABLE, 4, OSTEOGENESIS IMPERFECTA, TYPE XV, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, PICK DISEASE, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, BRACHYOLMIA TYPE 3, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, PROSTATE CANCER 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ANEMIA, SIDEROBLASTIC, 4, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, ATELOSTEOGENESIS, TYPE I, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, WAARDENBURG SYNDROME, TYPE 2D, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, FAMILIAL MEDITERRANEAN FEVER, AR, HEPATIC ADENOMA, SOMATIC, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MEIER-GORLIN SYNDROME 5, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, RENAL CYSTS AND DIABETES SYNDROME, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, FOLATE MALABSORPTION, HEREDITARY, RETICULATE ACROPIGMENTATION OF KITAMURA, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, TOOTH AGENESIS, SELECTIVE, 4, BROOKE-SPIEGLER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, LONG QT SYNDROME 14, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, OTOPALATODIGITAL SYNDROME, TYPE I, SADDAN, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, DYSTONIA 9, MYELOPEROXIDASE DEFICIENCY, STICKLER SYNDROME, TYPE II, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, TROYER SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, OPTIC ATROPHY PLUS SYNDROME, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CLEFT PALATE, ISOLATED, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, NEPHROTIC SYNDROME, TYPE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, SPINOCEREBELLAR ATAXIA 1, LACTASE PERSISTENCE/NONPERSISTENCE, AVASCULAR NECROSIS OF THE FEMORAL HEAD, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, DEAFNESS, AUTOSOMAL DOMINANT 64, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CORNELIA DE LANGE SYNDROME 2, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOTRICHOSIS 8, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, C1Q DEFICIENCY, HOLOPROSENCEPHALY-3, ERYTHROCYTOSIS, FAMILIAL, 2, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, COMPLEMENT FACTOR I DEFICIENCY, PAPILLARY THYROID CARCINOMA, HYPOBETALIPOPROTEINEMIA, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, AICARDI-GOUTIERES SYNDROME 6, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, TRYPSINOGEN DEFICIENCY, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, HEART-HAND SYNDROME, SLOVENIAN TYPE, OVARIAN RESPONSE TO FSH STIMULATION, AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, NEUROCUTANEOUS MELANOSIS, SOMATIC, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, LOEYS-DIETZ SYNDROME 4, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, ACROKERATOSIS VERRUCIFORMIS, REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, PCWH SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, FAVISM, POPLITEAL PTERYGIUM SYNDROME 1, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PARKINSON DISEASE 19, JUVENILE-ONSET, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, DEJERINE-SOTTAS DISEASE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, AORTIC VALVE DISEASE 2, DEAFNESS, AUTOSOMAL RECESSIVE 68, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PRION DISEASE WITH PROTRACTED COURSE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC 6, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP A, GIANT AXONAL NEUROPATHY-1, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, PEROXISOME BIOGENESIS DISORDER 2B, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, SPLENIC HYPOPLASIA, USHER SYNDROME TYPE 3B, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, DIAMOND-BLACKFAN ANEMIA 6, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ENCEPHALOPATHY, NEONATAL SEVERE, FILS SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, HYPOPLASTIC LEFT HEART SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, CHYLOMICRON RETENTION DISEASE, HYPOPHOSPHATEMIC RICKETS, AR, {GLIOBLASTOMA 3}, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, AXENFELD-RIEGER SYNDROME, TYPE 1, SENIOR-LOKEN SYNDROME 6, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, C8 DEFICIENCY, TYPE I, JERVELL AND LANGE-NIELSEN SYNDROME 1, {PSORIASIS SUSCEPTIBILITY 1}, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, PARAGANGLIOMAS 5, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 91, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, VITAMIN D-DEPENDENT RICKETS, TYPE I, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, LEFT VENTRICULAR NONCOMPACTION 7, COFFIN-SIRIS SYNDROME 4, DEAFNESS, AUTOSOMAL RECESSIVE 35, CRYOHYDROCYTOSIS, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NIEMANN-PICK DISEASE, TYPE A, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, BERGER DISEASE, NIEMANN-PICK DISEASE, TYPE B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, PREMATURE OVARIAN FAILURE 1, CORNELIA DE LANGE SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, {EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO}, {EPILEPSY, IDIOPATHIC GENERALIZED, 10}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JOUBERT SYNDROME-3, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, ?CATARACT 30, PULVERULENT, FAMILIAL MEDITERRANEAN FEVER, AD, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SMED STRUDWICK TYPE, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, NEPHROTIC SYNDROME, TYPE 4, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, MASP2 DEFICIENCY, MYOCLONUS, FAMILIAL CORTICAL, CEREBROOCULOFACIOSKELETAL SYNDROME 4, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, SORSBY FUNDUS DYSTROPHY, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, MASA SYNDROME, CRASH SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, C4A DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, HUNTINGTON DISEASE-LIKE 2, BRACHYDACTYLY, TYPE B1, ACHROMATOPSIA 7, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, EPISODIC ATAXIA, TYPE 5, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, CEREBROCOSTOMANDIBULAR SYNDROME, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, [NOVELTY SEEKING PERSONALITY], MYOPATHY, MYOFIBRILLAR, 2, VESICOURETERAL REFLUX 8, ACNE INVERSA, FAMILIAL, 2, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, ?HYPERPROLACTINEMIA, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, AGAMMAGLOBULINEMIA, X-LINKED 1, EBD, BART TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, THYROID HORMONE RESISTANCE, PSEUDOHYPOPARATHYROIDISM IC, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 1}, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, SPHEROCYTOSIS, TYPE 3, DU PAN SYNDROME, LIEBENBERG SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, DIGITAL CLUBBING, ISOLATED CONGENITAL, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, HYPERFERRITINEMIA-CATARACT SYNDROME, PYRUVATE KINASE DEFICIENCY, LUJAN-FRYNS SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, CATSHL SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, FUHRMANN SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, LYNCH SYNDROME I, JACKSON-WEISS SYNDROME, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, {BUDD-CHIARI SYNDROME}, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, KOOLEN-DE VRIES SYNDROME, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, PARIETAL FORAMINA 1, FACTOR X DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, SPLIT-HAND/FOOT MALFORMATION 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, SCHOPF-SCHULZ-PASSARGE SYNDROME, SHORT QT SYNDROME 2, ?DEAFNESS, X-LINKED 6, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, BLEEDING DISORDER, PLATELET-TYPE, 15, TREMOR, HEREDITARY ESSENTIAL, 4, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, CHOREA, HEREDITARY BENIGN, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, SENIOR-LOKEN SYNDROME-1, CEREBRAL AMYLOID ANGIOPATHY, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, KNIEST DYSPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, OPTIC NERVE HYPOPLASIA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, HYPERPARATHYROIDISM, NEONATAL, THYROID DYSHORMONOGENESIS 3, CALCIUM OXALATE UROLITHIASIS, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, PARASTREMMATIC DWARFISM, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, PARKINSON DISEASE 20, EARLY-ONSET, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, ?PRECOCIOUS PUBERTY, CENTRAL, 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ANGIOEDEMA, HEREDITARY, TYPES I AND II, NEPHROTIC SYNDROME, TYPE 6, SPINOCEREBELLAR ATAXIA 23, WOLCOTT-RALLISON SYNDROME, MUCKLE-WELLS SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, CRANIOSYNOSTOSIS, TYPE 1, PAGET DISEASE OF BONE 3, MENTAL RETARDATION, X-LINKED 58, DEAFNESS, AUTOSOMAL RECESSIVE 84A, THROMBOCYTOPENIA 4, UTERINE LEIOMYOMA, CARDIOMYOPATHY, HYPERTROPHIC, 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MECKEL SYNDROME 4, MYOTONIC DYSTROPHY 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

1450

CA2, TSC2, IHH, MSH6, VARS2, GP1BA, RPL5, FTL, POLD1, LRRK2, PRPF3, CHD8, EGR2, GAS8, DNAI2, CREBBP, RPS24, RPS7, RASA1, FGFR3, ITGA8, APOA1, FSHR, IFNAR2, CD79A, MLLT10, PAXIP1, C2, DAG1, FSHB, GABBR2, CITED2, MYOM1, NCSTN, NR1I3, SPARC, AP1S2, VPS33B, MIB1, ITPR1, GALNT3, RPS10, LPP, ALDOA, DDR2, IL2RA, GRIN2A, SUFU, DVL3, PDYN, CEP290, C1R, CTDP1, EYA1, NDUFS7, CD82, GLDC, HES7, KAT5, PDSS2, NOS2, CNGB1, A2M, IL1B, HOXA11, EFNB1, RAF1, XRCC4, CALCR, TAT, TNFSF11, HNRNPK, LAMC2, NPHP1, PTPRQ, DICER1, SYNJ1, SCARF2, COL4A3, FCGR3A, ERCC6, GRIN2B, GHRL, HLA-C, ATXN3, POLR3B, TSC1, ACTG2, NDUFS2, CTNNA1, PEX14, DNM2, CYBA, WNT5A, PGK1, ACTN1, ST3GAL3, CYLD, COX6A1, CDKN1B, AKR1C2, CDK4, MYOC, TAF4B, DNAH8, TGFBI, PCNT, PRF1, ERBB2, FOXN1, PSENEN, RP1, SLC6A4, MAOA, CYB5R3, CSF2RB, ADCY6, SLC17A8, HBA1, IL12B, ATP2A1, FGFR1, EPX, FZD4, SLC1A1, PTH, KAT6B, MEN1, GDNF, TNFRSF11A, GPHN, KAT6A, NCF1, ALPL, NDUFB3, FLT4, MYBPC3, FUT2, ALDH3A2, SMC1A, KANSL1, PCSK1, ATXN1, LHX4, OPTN, GLI2, TJP2, IRF1, POLH, MT-ND3, DYRK1A, XPR1, ASCL1, SDHA, CLDN1, MSX1, DRD3, SPTLC1, TUBA4A, CACNA1C, RFX5, SLC2A4, FCGR2B, PHB, PCSK9, CEBPE, FOXF1, PMPCA, ODC1, PDX1, SOD1, F2, SPTA1, ADRB2, FAS, SERPINB6, IKBKG, NDUFA1, NPHS1, CDH1, FRZB, STK11, FGF17, FMR1, KERA, PNPLA2, FGFR4, NOP56, PIK3CA, UGT1A4, PRKCG, NF1, RARB, ACTA1, RAG1, GRIP1, SMARCA4, HTR1A, IL10, IL31RA, AKAP10, IGF2, NOS3, RAB39B, ITGA2, LMNA, CEL, SOX5, CACNB2, SDC3, TALDO1, TSHB, ACVR1, TBX1, LAMP2, CDON, TPO, DDX3X, SGCE, TNPO3, SLC22A5, PAX2, ITGB2, CCL2, CNNM2, CYBB, FHL1, FOXC2, FBN1, PEX19, TBX21, COL27A1, EDN1, NONO, ADH1B, GSN, LARS2, STAT2, RYR2, GABRG2, GPD1, NRAS, DSPP, PRKCD, EPHB2, TLR4, PTGER2, TNFAIP3, PRPF4, TCF4, PDE10A, BAX, SP110, GNAL, PLOD2, COL18A1, EDNRB, ACTN2, CD46, DMP1, PLAU, NDUFS8, KISS1, ST14, NDUFA11, ERCC1, GUCY2C, MLH1, IRF7, AGTR1, GAN, DSG1, PTPRZ1, BMP4, IGLL1, ERCC2, CD40, NDUFB9, SETD2, ATP6V0A2, WNT7A, PRSS2, CHD7, SETD5, TNFRSF13C, DNAJC5, WRN, PLA2G2A, DNAL1, PGR, MECOM, DHDDS, NR0B1, PRX, RELN, NCF2, EP300, THRB, MAX, TNFRSF4, UBB, NOTCH3, JAM3, GDF2, PLIN1, TNFRSF13B, LDHA, IGFBP7, GCK, NUP155, ELANE, CFTR, TAF2, SLC25A4, HOXD10, NUP93, CHRM3, AXIN1, EPOR, NEFH, FZD6, COL25A1, BRF1, IRF3, DISC1, NLRP3, INSR, SERPINH1, PITX2, MSH2, CD3G, COX4I2, FGF20, AMPD2, DNAJC3, NR0B2, CHKB, MTRR, SHH, HBB, HSPB1, PDE4D, BCKDHB, CIITA, KIF11, UBA1, PAFAH1B1, KDM6A, LHX3, PTPN14, RAB7A, JPH1, TRIM32, WNK1, GFI1B, GPX1, HPSE2, BCKDHA, PPP2R1B, VLDLR, IL1RN, SOX2, AXIN2, CDKN3, PAX4, THRA, C5, MTOR, CST3, LEP, PIK3CD, IFNG, AIFM1, DSP, SMARCE1, JAK2, AP2S1, TNNT1, TUBGCP4, ATP6V1B2, TYK2, SMC3, ARG1, IGKC, MT-CO1, CAV3, BANF1, TGFBR1, CTNNB1, SMAD4, CTSK, MRAP, HDAC6, LRP5, LAMA3, PPP2R1A, TUBB, NDUFA2, RIPK4, INPPL1, AIP, DIAPH1, BRIP1, GLI3, CSNK1D, ARL6, GH1, CD59, EIF4A3, NLRP1, PER3, ZFPM2, MLF1, GNAO1, LAMA2, AP4M1, THBS4, RARS, PLCB1, MT-CO2, COL5A2, COL6A1, LPL, PTPRC, STAR, GPX4, BDNF, CD36, LRP6, HLA-DQB1, ALB, SDHB, TAP2, APOB, MMP1, MFN2, HSF4, MS4A2, PDE11A, WT1, NDUFB11, CDT1, SPAST, MVD, NR2E3, SF3B4, DDC, GNAQ, HOXB1, SLC26A4, NPPA, PDE8B, EDNRA, PRKAG2, MEF2C, NR2F2, MSX2, JUP, PIKFYVE, PRKG1, CACNA1A, NLRC4, FANCA, RB1, NFKBIL1, ATF6, CETP, TSG101, MT-ATP6, ADAR, CBS, CTCF, MCPH1, AASS, COL4A4, BMP2, AKAP9, VDR, FIBP, PARK2, ETFA, EGFR, IKBKB, MAPK8IP1, LAMA4, PSTPIP1, KCNQ2, PTPRJ, ABCB11, ESRRB, KIT, SCYL1, COX7B, BARD1, KRT8, JAGN1, NR5A1, ITGB4, TYMP, GATA6, KMT2D, DTNBP1, MAP3K1, BLM, ACTN4, AIPL1, POLR1C, RNASEL, ADA, TIMP3, SMAD3, HSPG2, ESR1, SKI, SERPINE1, GATA2, DYRK1B, CD3D, UGT1A1, SDHC, ATRX, GFI1, CTSA, NTF3, AGT, SEPT9, PPP1R3A, KDM1A, KMT2A, IKZF1, IL21R, BCOR, PPP1R15B, TH, COL10A1, GABRA2, HNRNPA1, SERPING1, ECM1, PRKACG, VRK1, CSF1R, DRD2, ICOS, TWIST2, QDPR, LPAR6, PLCE1, NOTCH2, TIA1, CAD, IL21, SCNN1A, RAI1, RFXAP, GFPT1, DCX, APTX, ANLN, POLR1D, PFKM, FOXO1, TMEM173, PTPN1, MPC1, CLDN16, RPS6KA3, TFG, INS, CD44, KCNN4, PITX3, LMX1B, KCNMB1, CRBN, CNTN1, SNTA1, VHL, SNRPB, TG, TNFRSF1A, TBX5, FN1, NGF, MYH2, DCTN1, HCCS, TERT, TRPM7, DGKE, F13A1, SLC9A3R1, TCF12, KLF6, CHEK2, PUF60, PRNP, JAK3, KITLG, IGBP1, POLE, ATM, MXI1, SUCLG1, STX11, SEPT12, HRAS, KRT10, OCLN, C8A, PRLR, C8B, BRCA2, DRD4, ACP5, SLC1A3, NBN, SLCO1B1, G6PD, COL5A1, ARHGEF9, KISS1R, CDKN2A, VIM, S1PR2, TGM1, DLC1, SIX3, AFG3L2, UNG, HIP1, OAS1, POU1F1, ABCC2, PHOX2A, DLL4, CATSPER1, TUBA1A, NKX2-5, IDH1, CACNA1D, PTCH2, HELLS, SPG20, KRT18, PROM1, COL4A2, TUBG1, SLC4A1, CD81, ITK, GLUD1, MFAP5, PAX8, SFTPA1, REN, MYH3, COL4A1, INF2, SGCA, SPTBN2, MECP2, DNAJC6, POLR2F, CCND2, MRPL3, SRD5A2, C1QB, NEFL, RAG2, ITPR3, SERPINA1, ACVRL1, PLN, PNPT1, LCK, CSF3R, FLNA, POLR3A, PDHA1, CR2, PRKACA, CD19, MASP1, FLG, PLCG2, DRD5, CTNNA3, MYCN, FANCC, MT-ND5, FLNC, DCC, FASLG, DNMT3B, NHP2, MYH11, ATR, SELP, MYH14, PORCN, CALM1, PITX1, RASGRP2, LBR, CUL3, TBXA2R, ATP6V1B1, CACNA2D4, KRIT1, HDC, SLC6A3, CDC6, B2M, RANBP2, FH, PHF8, SEC23A, PRKCH, POR, TGFBR2, CYP2C19, MAFB, PTEN, NF2, PIK3R5, PICALM, DNMT3A, SKIV2L, LAMA1, MT-ND6, HMGA1, BMPR1A, CBL, CCND1, NKX2-1, HSPD1, MT-CYB, GAD1, TNNT2, SH2D1A, HTR2A, PDE6B, SERPINC1, HNF1B, NDUFA12, NLGN3, ETV6, CEP63, CD40LG, PSEN2, CTSD, NUP62, PNKP, TAPBP, PPIB, DNAH14, LHB, KRT17, LRPAP1, PEX13, PDE6G, PEX5, ECHS1, CFP, EIF2B1, SLC2A1, FGF23, SLC9A1, ZNF423, SLC46A1, DIABLO, KNG1, PIK3R2, RFXANK, CXCR4, PDHX, SPRY4, STAT3, SCRIB, FLT3, HLA-B, CENPE, WNT10A, EPHA2, PAK3, HMGA2, MEF2A, TF, TCAP, COL11A1, EXOC8, PIGR, HPGD, MAD1L1, MITF, PARK7, ORC4, MYC, F5, PSEN1, JPH3, NCF4, ACY1, SLC2A2, SPTAN1, MT-CO3, SOS1, CDC73, TYROBP, CACNB4, USP8, GNAI2, TNXB, SOX9, GABRA1, FGF9, PKLR, CABP4, CYP3A5, CORO1A, PLOD3, SCARB2, CFL2, CD247, RBM10, DSC2, TCIRG1, AICDA, FGF5, BRAF, SNAP25, MALT1, BLNK, KRT5, SMAD9, GRM1, KIF2A, CYP27B1, KLC2, EEF2, NFKB2, ALOX5, KCNJ5, CRB2, TNFRSF11B, SLC5A7, SMN2, DVL1, PRSS1, UMOD, MAF, TUBB4A, DYNC1H1, TLR2, SERPINF2, USH2A, IRF5, CHRNE, NODAL, ACTG1, ASXL1, KCNJ10, RNF6, TINF2, IL6, DCN, HCFC1, APC, ADAM17, FCGR2A, PLCB4, UCP1, C3AR1, TNNI3, DNAH11, PRPF31, TPM1, SQSTM1, TBX19, PLCD1, MUC1, ADRB3, GNAI3, CDK5, ZEB2, NEB, LIPE, APRT, JAG1, TEK, C1QC, PRPH, GRID2, COL2A1, RBPJ, RUNX1, STT3A, RB1CC1, LZTR1, DCLRE1C, UBIAD1, KIF5A, HRG, ABCA1, COMP, ITGA6, MMP13, NFKBIA, CLEC7A, C3, ERCC5, BCR, UQCRQ, NDUFA9, DKC1, NDUFV1, ALX4, ABCC8, HAX1, GNB4, SDHD, HLA-DRB1, SYN1, RORC, BCS1L, RAPSN, PLK4, SETX, ITPR2, ACACA, MT-ND1, LAMC3, ISG15, HNF1A, DDB2, TNFRSF10B, NDUFS3, FGF14, SMARCB1, IL17RA, HOXC13, NTRK1, FADD, IL13, DEAF1, SGCG, CYP1B1, CACNA1S, CLASP1, UCHL1, TNC, CD27, HTRA1, TUFM, TSPAN7, IGSF1, TAB2, CLDN14, CNBP, PABPN1, PIGT, MYD88, ITGB6, TAP1, TUBB1, MYO5A, OTX2, PTHLH, EIF2B2, SOX10, ING1, PLG, TFRC, MASP2, NEU1, PIP5K1C, MYL3, SNAI2, PDGFRB, HLA-DQA1, WNT4, ANXA5, PTCH1, ACE, APOA2, KRAS, PAX6, CPOX, EPHX1, GHSR, TARDBP, ALDH2, GNB3, AGRN, IGHM, PDE3A, HTT, AVPR2, CRYAB, RAD51, ARHGEF6, ZBTB16, SART3, CYP24A1, SEC23B, IFNGR1, NUP214, TUBA8, LARS, IL7R, SMARCA2, ZIC2, MYLK, TGFB3, CASR, CTLA4, DMD, CHRNA1, C1QA, EIF2AK4, TUBB2A, PRKDC, NDUFS1, DDX58, CFI, MED12, SEC63, NDUFS6, GPD2, CHRNA4, HLA-G, LDB3, FLCN, SHANK3, DDOST, TRAC, DLX5, NMNAT1, SUMF1, DNAJC13, BIN1, HSD17B4, DHCR7, HPCA, ENTPD1, SCN5A, NSD1, GATA5, TCF7L2, AKT3, NDUFV2, FGFR2, UBE3A, RPL11, NKX3-2, L1CAM, RET, ARX, HACE1, NEK2, SELE, BMPR1B, ANK2, ATIC, TPM3, PKP2, APOE, HGF, LAMB1, NGLY1, GNAS, IGF2R, COL3A1, SFTPA2, DOCK7, PCYT1A, LHCGR, NOG, DST, ITGA3, ARFGEF2, PDGFRA, SBF1, ACTC1, KMT2C, DYNC2H1, IFIH1, BGLAP, KL, ERBB3, POMC, AR, P4HB, GATAD2B, RNF216, BUB1B, ADCY1, TAF6, MRE11A, TUBB2B, MPDZ, PER2, SUCLA2, HNF4A, VEGFC, ROR2, FUS, NOL3, T, PPP2R2B, TP63, DUSP6, NDUFA10, GATA1, AGL, TRAF3IP1, EFEMP1, TPM2, CFB, PQBP1, CASQ2, AKT1, TPI1, AURKA, PINK1, EZH2, TWIST1, ERCC8, PTPRO, DNAH1, HSPA9, HAMP, NOD2, POLA1, AQP5, PTPN11, PTPN12, SPG7, DMPK, VPS11, DNAL4, NDUFS4, FGF3, PAX9, GATA4, MBL2, CALR, LRP2, FBP1, ATP2A2, EPM2A, SURF1, NR4A2, ACTB, GRN, CACNA1B, COL1A2, GFAP, CTPS1, FGA, IL4R, MYO1E, COL4A5, BAG3, PROK2, GDF5, DES, CYCS, MPO, MEFV, ARHGDIA, AHSG, CAPN3, HSD11B1, IKBKAP, IL2RG, PLS3, MMP2, SGCD, GABRD, NME1, SP7, VWF, NOTCH1, ERCC3, NPM1, GPI, CD3E, ATN1, VCAN, SNRNP200, MVK, RASSF1, CARD9, PAX7, COL4A6, LIPC, GP6, HARS, ACTA2, ARNT2, SOS2, SMAD6, DPH1, IGF1, SRP72, JPH2, NEUROD1, PTH1R, NDN, LIG4, FOXP1, TP53, EPS8, TUBB8, CASP8, SNCA, HK1, ERBB4, MYH6, AIRE, DLG3, KCNMA1, PTS, PAX3, KRT1, PRKCSH, TGFB1, PRPF6, FTH1, RRAS2, IGF1R, EIF2AK3, APPL1, LDLR, CYP2A6, DNMT1, PCNA, PHOX2B, MAPT, ALOXE3, SLC25A20, CFD, WNT10B, GCGR, SLC34A1, PHEX, FGG, PKD1, SALL1, RAD21, CDK6, CENPF, EFTUD2, KCNJ6, TRAPPC2, DNAH5, RECQL4, MCM6, EGLN1, SALL4, ITCH, LAMB2, DNAI1, COX8A, TBK1, GATA3, ADAM10, HMGCS2, DNM1, PGAM2, HR, COL1A1, CD8A, TNF, SOX3, EDA, ATP1A2, CACNA1F, ORAI1, SNCAIP, MET, IRF8, DNM1L, EEF1A2, MAG, RUNX2, FKBP14, IRS1, SPRY2, GSC, SLC22A4, WAS, VCP, TYRP1, COL11A2, COL7A1, SMPD1, RPS14, TGFB2, HSD17B10, FOXP2, DSG2, PPM1D, CSRP3, GNA11, RDX, BRCA1, NR3C1, TUBB3, KLF1, MNX1, ACKR1, ATP5A1, ALDH1A3, RPSA, DBT, ITGA2B, RHO, TTN, TSHR, RPS19, AQP2, TRPV4, CFH, AHI1, SSR4, KCNQ1, HDAC8, MYH7, STUB1, MT-ND4, WNT3, BCL10, MED25, ANK3, TBP, MYH9, FGF10, POMT1, FGF16, ATP6AP2, ZHX2, TRH, APP, F12, MT-ND4L, F10, IRS2, ZAP70, IRF6, FLNB, PTPRF, PDGFB, CAV1, POLR1A, PRPF8, TTBK2, POT1, NT5E, BCAP31, ITGB3, TBX3, PPARG, PRKAR1A, CDSN, BTK, COX6B1, SGCB, NEUROG3, EFEMP2, EMD, MT-ND2, SYN2, ATP1B1, GCH1, LRP1, LPIN1, RYR1, AKT2, MARS, EIF4G1, COPA, CLDN19, C4A, STAT1, WNT1, TAF1, CEBPA, MYO6, PCBD1, FERMT1, ADCY5, BMPR2, GPC3, KCNJ11, CACNA1G, GJA1, CCL11, IL10RB, ALS2, IL12RB1, COL17A1, KPTN, ACAN, LAMB3, MYO5B, FOXP3, SIX1, CNTN2, TRPC3, UQCRC2, ACO2, ELN, MAP2K2, CYP2C9, CDKN1C, MUSK, TFAP2A, ADH1C, LYZ, ERLIN2, NR2F1, SAR1B, SCO2, IFNGR2, STX16, RETN, CASP10, IL17RC, AMH, NFKB1, ORC1, NAT2, CARD11, IL10RA, TRIM28, PACS1, HOXA2, OPA1, TBX6, ANK1, ITGA7, GNRH1, CYC1, KDR, UQCRB, HFE, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Organismal SystemsYesN0.0001536240.341970

ATROPHODERMA VERMICULATUM, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, PULMONARY ALVEOLAR MICROLITHIASIS, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, ACHONDROPLASIA, ?NEUTROPHILIA, HEREDITARY, DUCHENNE MUSCULAR DYSTROPHY, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?IMMUNODEFICIENCY 39, DESMOID DISEASE, HEREDITARY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, DYSAUTONOMIA, FAMILIAL, SICKLE CELL ANEMIA, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ALPHA-2-MACROGLOBULIN DEFICIENCY, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, CARDIOMYOPATHY, HYPERTROPHIC, 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, COFFIN-LOWRY SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, C2 DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, JOUBERT SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, INCONTINENTIA PIGMENTI, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, HYPERPROINSULINEMIA, HAJDU-CHENEY SYNDROME, SPINOCEREBELLAR ATAXIA 15, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, HOLOPROSENCEPHALY-4, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, FAZIO-LONDE DISEASE, MICROVILLUS INCLUSION DISEASE, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, EHLERS-DANLOS SYNDROME, TYPE 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, ATRIAL SEPTAL DEFECT 9, BENIGN FAMILIAL HEMATURIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, EPIDERMOLYSIS BULLOSA, PRETIBIAL, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL, SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, BURKITT LYMPHOMA, PRADER-WILLI SYNDROME, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, NEUROFIBROMATOSIS, TYPE 1, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MYOPATHY, MYOFIBRILLAR, 1, TRICHORHINOPHALANGEAL SYNDROME, TYPE III, LUSCAN-LUMISH SYNDROME, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ALPHA-METHYLACETOACETIC ACIDURIA, GHOSAL HEMATODIAPHYSEAL SYNDROME, BRACHYDACTYLY, TYPE E2, HYPER-IGD SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, HYPOSPADIAS 1, X-LINKED, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, UV-SENSITIVE SYNDROME 2, TRIGONOCEPHALY 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MODY, TYPE III, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, OPSISMODYSPLASIA, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, MENTAL RETARDATION, X-LINKED 63, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ABLEPHARON-MACROSTOMIA SYNDROME, HEMOCHROMATOSIS TYPE 1, MALFORMATION OF THE HEART, SPLIT-HAND/FOOT MALFORMATION 4, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, CRANIOLENTICULOSUTURAL DYSPLASIA, MECONIUM ILEUS, TUBEROUS SCLEROSIS-1, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, FRAGILE X SYNDROME, LEBER CONGENITAL AMAUROSIS 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, ?DEAFNESS, AUTOSOMAL RECESSIVE 61, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CPT DEFICIENCY, HEPATIC, TYPE II, NEUTROPENIA, CYCLIC, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, ?FIBROMATOSIS, GINGIVAL, 1, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, THRYOID DYSHORMONOGENESIS 6, ?CARDIOMYOPATHY, DILATED, 2A, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, MYOCLONIC-ATONIC EPILEPSY, {PANIC DISORDER, SUSCEPTIBILITY TO}, DEAFNESS, AUTOSOMAL RECESSIVE 29, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, CURRARINO SYNDROME, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, MARFAN LIPODYSTROPHY SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, ?DIARRHEA 7, CARDIOMYOPATHY, DILATED, 1V, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MULTIPLE FIBROADENOMAS OF THE BREAST, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, GLUCOCORTICOID DEFICIENCY 2, OPTIC ATROPHY 1, ?SECKEL SYNDROME 6, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, NEMALINE MYOPATHY 5, AMISH TYPE, STORMORKEN SYNDROME, RETINITIS PIGMENTOSA 35, RETINITIS PIGMENTOSA 17, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, POLYDACTYLY, PREAXIAL, TYPE IV, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, ALAND ISLAND EYE DISEASE, PERIODIC FEVER, FAMILIAL, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, DYSTONIA 27, CINCA SYNDROME, ACHROMATOPSIA-2, CONE-ROD DYSTROPHY 14, CONE DYSTROPHY-3, OCCIPITAL HORN SYNDROME, HEMOPHILIA A, ?SPINOCEREBELLAR ATAXIA 41, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, PSEUDOHYPOALDOSTERONISM, TYPE I, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ACETYL-COA CARBOXYLASE DEFICIENCY, AMYLOIDOSIS, FINNISH TYPE, HYPERPARATHYROIDISM, FAMILIAL PRIMARY, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, SEGAWA SYNDROME, RECESSIVE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, IMMUNODEFICIENCY 36, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ?INFANTILE LIVER FAILURE SYNDROME 1, PROLIDASE DEFICIENCY, DEAFNESS, AUTOSOMAL DOMINANT 56, HYPOMAGNESEMIA 3, RENAL, MUSCULAR DYSTROPHY, CONGENITAL, CATARACT 5, MULTIPLE TYPES, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 2}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, PARKINSON DISEASE, JUVENILE, TYPE 2, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, DOYNE HONEYCOMB DEGENERATION OF RETINA, OROFACIAL CLEFT 11, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, AMYOTROPHY, HEREDITARY NEURALGIC, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, OHDO SYNDROME, X-LINKED, FIBROCHONDROGENESIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 89, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?WAISMAN SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, CORNEAL DYSTROPHY, GROENOUW TYPE I, ?N SYNDROME, BRACHYDACTYLY, TYPE B2, POROKERATOSIS 1, MULTIPLE TYPES, IRIDOGONIODYSGENESIS, TYPE 2, TRANSIENT BULLOUS OF THE NEWBORN, DIABETES INSIPIDUS, NEPHROGENIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, 3MC SYNDROME 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, CRANIOSYNOSTOSIS, TYPE 2, CODAS SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, FAILURE OF TOOTH ERUPTION, PRIMARY, RETINITIS PIGMENTOSA 70, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, PSEUDOACHONDROPLASIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, SPHEROCYTOSIS, TYPE 4, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, DIARRHEA 6, SENIOR-LOKEN SYNDROME 4, LONG QT SYNDROME 13, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, LYMPHEDEMA, HEREDITARY, IA, ?NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ANGIOEDEMA, HEREDITARY, TYPE III, WAARDENBURG SYNDROME, TYPE 3, METATROPIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, {HASHIMOTO THYROIDITIS}, SENIOR-LOKEN SYNDROME 5, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, FACTOR XII DEFICIENCY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, CARDIOMYOPATHY, HYPERTROPHIC, 3, HARTSFIELD SYNDROME, IMMUNODEFICIENCY 21, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, CEREBROOCULOFACIOSKELETAL SYNDROME 3, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3, MELNICK-FRASER SYNDROME, GREENBERG SKELETAL DYSPLASIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, VAN DER WOUDE SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PHELAN-MCDERMID SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, SICK SINUS SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PARKINSON DISEASE 4, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OSSEOUS HETEROPLASIA, PROGRESSIVE, COMBINED SAP DEFICIENCY, IMMUNODEFICIENCY 11, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PAPILLORENAL SYNDROME, COLE-CARPENTER SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, ATRIAL SEPTAL DEFECT 5, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, XERODERMA PIGMENTOSUM, GROUP C, IMMUNODEFICIENCY 14, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8}, {EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2}, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SMALL CELL CANCER OF THE LUNG, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, MEGALOCORNEA 1, X-LINKED, HYPEREKPLEXIA 3, OLMSTED SYNDROME, TANGIER DISEASE, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, PITUITARY ADENOMA, PROLACTIN-SECRETING, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PARAMYOTONIA CONGENITA, OPITZ-KAVEGGIA SYNDROME, FRASIER SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 1, AGAMMAGLOBULINEMIA 4, ALPHA-FETOPROTEIN DEFICIENCY, 46,XX SEX REVERSAL, TYPE 2, CATARACT 6, MULTIPLE TYPES, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, CORNEAL DYSTROPHY, AVELLINO TYPE, MYHRE SYNDROME, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, HYPERPROLINEMIA, TYPE I, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, RETINITIS PIGMENTOSA 18, CUTIS LAXA, AD, SPERMATOGENIC FAILURE 7, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, LONG QT SYNDROME-3, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, THROMBOCYTOPENIA 5, CONE-ROD DYSTROPHY 6, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MARSHALL SYNDROME, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, WOLFF-PARKINSON-WHITE SYNDROME, LYMPHEDEMA, HEREDITARY, ID, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, LEBER CONGENITAL AMAUROSIS 14, RETINITIS PIGMENTOSA, JUVENILE, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, HEPATIC LIPASE DEFICIENCY, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, TOURETTE SYNDROME, {GILLES DE LA TOURETTE SYNDROME, SUSCEPTIBILITY TO}, CONE-ROD DYSTROPHY 2, GLUCOCORTICOID RESISTANCE, PELGER-HUET ANOMALY, TRANSALDOLASE DEFICIENCY, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, GILLESPIE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MENTAL RETARDATION, X-LINKED 99, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, VON WILLEBRAND DISEASE, PLATELET-TYPE, ?DEAFNESS, AUTOSOMAL DOMINANT 68, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, HUNTINGTON DISEASE, MODY, TYPE I, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 13, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, ALLAN-HERNDON-DUDLEY SYNDROME, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, ENDOCRINE-CEREBROOSTEODYSPLASIA, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, CONE-ROD DYSTROPHY, RETINITIS PIGMENTOSA, JUVENILE, LEBER CONGENITAL AMAUROSIS 4, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, GLUCOSE/GALACTOSE MALABSORPTION, NEPHROTIC SYNDROME, TYPE 8, CHOROIDEREMIA, DYSTONIA-12, MENTAL RETARDATION, X-LINKED 96, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, BJORNSTAD SYNDROME, HYPEREKPLEXIA HEREDITARY, MENTAL RETARDATION, X-LINKED 46, FUMARASE DEFICIENCY, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, MENTAL RETARDATION, X-LINKED 41, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, DEAFNESS, AUTOSOMAL RECESSIVE 30, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), ?MYOSCLEROSIS, CONGENITAL, GLIOMA SUSCEPTIBILITY 1, PLATELET GLYCOPROTEIN IV DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, EPISODIC ATAXIA, TYPE 6, IMMUNODEFICIENCY 10, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ECTOPIA LENTIS, FAMILIAL, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, {PARKINSON DISEASE 18}, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, GALACTOSEMIA, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, DENTIN DYSPLASIA, TYPE II, DEAFNESS, AUTOSOMAL RECESSIVE 48, RENPENNING SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, GM1-GANGLIOSIDOSIS, TYPE II, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, LYMPHOPROLIFERATIVE SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, HAMAMY SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SPINOCEREBELLAR ATAXIA 42, IMMUNODEFICIENCY 46, MYOGLOBINURIA, RECURRENT, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, ENHANCED S-CONE SYNDROME, SUPRANUCLEAR PALSY, PROGRESSIVE, RETINITIS PIGMENTOSA-40, LONG QT SYNDROME 12, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, BEHR SYNDROME, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LONG QT SYNDROME 15, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 38, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, ACRODERMATITIS ENTEROPATHICA, SPECIFIC GRANULE DEFICIENCY, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, CARASIL SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 19, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, ?CARDIOMYOPATHY, HYPERTROPHIC, 19, MULTIPLE SYNOSTOSES SYNDROME 1, ?REYNOLDS SYNDROME, ?STEEL SYNDROME, DEMENTIA, FAMILIAL DANISH, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CARDIOMYOPATHY, DILATED, 1E, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, NEUROFIBROMATOSIS, FAMILIAL SPINAL, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, LEUKODYSTROPHY, HYPOMYELINATING, 11, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, MULTIPLE ENDOCRINE NEOPLASIA IIA, LARSEN SYNDROME, C3 DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 18, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFRONTONASAL DYSPLASIA, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, NAXOS DISEASE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, KAPPA LIGHT CHAIN DEFICIENCY, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1B, AUTOSOMAL RECESSIVE, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, MYOPATHY, MYOFIBRILLAR, 5, HAY-WELLS SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, LYSYL HYDROXYLASE 3 DEFICIENCY, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, EMBERGER SYNDROME, IMMUNODEFICIENCY 12, INFANTILE NEUROAXONAL DYSTROPHY 1, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, CREATINE PHOSPHOKINASE, ELEVATED SERUM, NEURODEGENERATION WITH BRAIN IRON ACCULULATION 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE IA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, WIEDEMANN-STEINER SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, EIKEN SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, HYPOKALEMIC PERIODIC PARALYSIS 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, ?EPILEPSY, FAMILIAL TEMPORAL LOBE, 8, IMMUNODEFICIENCY, COMMON VARIABLE, 5, VENTRICULAR TACHYCARDIA, IDIOPATHIC, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, HMG-COA SYNTHASE-2 DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, GALACTOSIALIDOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ?DYSTONIA 23, IMAGE SYNDROME, CHERUBISM, BARBER-SAY SYNDROME, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, LATERAL MENINGOCELE SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, ABCD SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, STICKLER SYNDROME, TYPE III, AGAMMAGLOBULINEMIA 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), {AUTISM SUSCEPTIBILITY, X-LINKED 3}, [ECULIZUMAB, POOR RESPONSE TO], EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WEILL-MARCHESANI SYNDROME 2, DOMINANT, TYROSINEMIA, TYPE II, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC, ?MIRROR MOVEMENTS 3, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, NIJMEGEN BREAKAGE SYNDROME, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, FLETCHER FACTOR (PREKALLIKREIN) DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, TREACHER COLLINS SYNDROME 2, BLAU SYNDROME, SPINOCEREBELLAR ATAXIA 14, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, ARTHROGRYPOSIS, DISTAL, TYPE 8, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, PYCNODYSOSTOSIS, CARCINOID TUMORS, INTESTINAL, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, ?OTOFACIOCERVICAL SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 2, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CEREBROTENDINOUS XANTHOMATOSIS, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS, NOONAN SYNDROME 7, CARDIOMYOPATHY, DILATED, 1NN, ?MULTIPLE SYNOSTOSES SYNDROME 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LONG QT SYNDROME 6, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, HEMOCHROMATOSIS, TYPE 2B, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, NOONAN SYNDROME 9, DENYS-DRASH SYNDROME, SEBASTIAN SYNDROME, [HEREDITARY PERSISTENCE OF ALPHA-FETOPROTEIN], HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, TARSAL-CARPAL COALITION SYNDROME, FRAXE, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, MYOPATHY, TUBULAR AGGREGATE, 2, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, ?PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SYMPHALANGISM, PROXIMAL, 1A, LI-FRAUMENI SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, RETINITIS PIGMENTOSA 37, OVALOCYTOSIS, SA TYPE, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, KNOBLOCH SYNDROME 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, VENTRICULAR SEPTAL DEFECT 3, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, CONE-ROD DYSTROPHY, X-LINKED, 3, HYPERALPHALIPOPROTEINEMIA, [HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL 10], 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, OVARIAN DYSGENESIS 1, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, GLYCOGEN STORAGE DISEASE VII, ?IMMUNODEFICIENCY 22, COLOBOMA, OCULAR, APPARENT MINERALOCORTICOID EXCESS, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, MENTAL RETARDATION, X-LINKED 19, BRANCHIOOTIC SYNDROME 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, KOSAKI OVERGROWTH SYNDROME, FIBROCHONDROGENESIS 2, EPITHELIAL RECURRENT EROSION DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, DOWLING-DEGOS DISEASE 1, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, SPLENIC HYPOPLASIA, LEUKODYSTROPHY, HYPOMYELINATING, 9, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, {OROFACIAL CLEFT 6}, GALLBLADDER DISEASE 1, CYSTINURIA, RETT SYNDROME, CONGENITAL VARIANT, ?PARKINSONISM WITH SPASTICITY, X-LINKED, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, NEUROFIBROMATOSIS, TYPE 2, GLYCOGEN STORAGE DISEASE 0, MUSCLE, LEGG-CALVE-PERTHES DISEASE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, HYPERCHYLOMICRONEMIA, LATE-ONSET, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, CEROID LIPOFUSCINOSIS, NEURONAL, 11, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, DILATED, 1U, CEROID LIPOFUSCINOSIS, NEURONAL, 10, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], PULMONARY VENOOCCLUSIVE DISEASE 2, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, WARBURG MICRO SYNDROME 3, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, ?ACAT2 DEFICIENCY, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, BASAL LAMINAR DRUSEN, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, DIAMOND-BLACKFAN ANEMIA 6, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, WAARDENBURG SYNDROME, TYPE 4A, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CONGENITAL DIAPHRAGMATIC HERNIA, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, ?BARDET-BIEDL SYNDROME 19, LOEYS-DIETZ SYNDROME 2, ALZHEIMER DISEASE, TYPE 4, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, IMMUNODEFICIENCY 43, PCWH SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, TOENAIL DYSTROPHY, ISOLATED, SPINOCEREBELLAR ATAXIA 21, NORUM DISEASE, CARDIOMYOPATHY, DILATED, 1HH, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, OPITZ GBBB SYNDROME, TYPE I, ESSENTIAL HYPERTENSION, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PARKINSON DISEASE 1, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FANCONI RENOTUBULAR SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, ?IMMUNODEFICIENCY 13, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {BLEPHAROSPASM, PRIMARY BENIGN}, STIFF SKIN SYNDROME, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, ?DYSTONIA, JUVENILE-ONSET, VISCERAL MYOPATHY, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1D, AUTOSOMAL RECESSIVE, ?CHARGE SYNDROME, CHARGE SYNDROME, JOUBERT SYNDROME 4, COMPLEMENT FACTOR H DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32, NASU-HAKOLA DISEASE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, RENAL TUBULAR ACIDOSIS, DISTAL, AD, ALPORT SYNDROME, IMINOGLYCINURIA, DIGENIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, [PREMATURE CHROMATID SEPARATION TRAIT], OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PACHYONYCHIA CONGENITA 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, HOLOPROSENCEPHALY 11, 46XY SEX REVERSAL 6, MCARDLE DISEASE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, PORENCEPHALY 2, ACROMICRIC DYSPLASIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, HYPOPHOSPHATEMIC RICKETS, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, NEPHROTIC SYNDROME, TYPE 3, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, PANCREATIC LIPASE DEFICIENCY, RETINITIS PIGMENTOSA 41, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, IMMUNODEFICIENCY 9, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, EPILEPSY, PROGRESSIVE MYOCLONIC 7, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, 3-M SYNDROME 1, ?IMMUNODEFICIENCY 37, ATELEIOTIC DWARFISM, ZIMMERMANN-LABAND SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE IA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MYOPATHY, DISTAL, 4, STICKLER SYNDROME, TYPE I, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, HUTCHINSON-GILFORD PROGERIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SPINOCEREBELLAR ATAXIA 28, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AURICULOCONDYLAR SYNDROME 3, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, GLYCOGEN STORAGE DISEASE XII, APLASIA OF LACRIMAL AND SALIVARY GLANDS, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, MYXOMA, INTRACARDIAC, AORTIC ANEURYSM, FAMILIAL THORACIC 9, ?SPASTIC PARAPLEGIA 63, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MISMATCH REPAIR CANCER SYNDROME, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MUSCLE GLYCOGENOSIS, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, BRUCK SYNDROME 2, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, ACUTE MYELOID LEUKEMIA, M6 TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, PITT-HOPKINS-LIKE SYNDROME 2, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MULTIPLE ENDOCRINE NEOPLASIA 1, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CORPUS CALLOSUM AGENESIS, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, IVIC SYNDROME, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, THYROID DYSHORMONOGENESIS 1, HYPERGLYCINURIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, CAFFEY DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?BARDET-BIEDL SYNDROME 11, THROMBOCYTHEMIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, GLYCINE ENCEPHALOPATHY, ALZHEIMER DISEASE-2, IMMUNODEFICIENCY 33, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CORNELIA DE LANGE SYNDROME 3, SED CONGENITA, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), LYMPHOPROLIFERATIVE SYNDROME 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, GENITOPATELLAR SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, LATHOSTEROLOSIS, {LEPROSY, SUSCEPTIBILITY TO}, EXUDATIVE VITREORETINOPATHY 4, DEAFNESS, AUTOSOMAL RECESSIVE 24, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, LISSENCEPHALY 3, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, INFANTILE MYOFIBROMATOSIS 1, ABETALIPOPROTEINEMIA, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BLEEDING DISORDER, PLATELET-TYPE, 11, DIABETES INSIPIDUS, NEPHROGENIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, TIETZ ALBINISM-DEAFNESS SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MAST CELL DISEASE, OLIGODONTIA-COLORECTAL CANCER SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, RETINAL CONE DYSTROPHY 4, ATAXIA-OCULOMOTOR APRAXIA 3, ATRIAL FIBRILLATION, FAMILIAL, 10, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, [SHORT SLEEPER], ATELOSTEOGENESIS, TYPE III, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VERHEIJ SYNDROME, FACTOR V DEFICIENCY, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, ?STICKLER SYNDROME, TYPE V, MIRROR MOVEMENTS 1, {PARKINSON DISEASE 8}, C8 DEFICIENCY, TYPE II, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, ODONTOONYCHODERMAL DYSPLASIA, RETINITIS PIGMENTOSA, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, PORENCEPHALY 1, ?PROGESTERONE RESISTANCE, MANDIBULOACRAL DYSPLASIA, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 35, VAN BUCHEM DISEASE, TYPE 2, COMBINED HYPERLIPIDEMIA, FAMILIAL, BRUGADA SYNDROME 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, BOHRING-OPITZ SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, WRINKLY SKIN SYNDROME, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MENTAL RETARDATION, X-LINKED 102, CATARACT 16, MULTIPLE TYPES, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, SPLIT-HAND/FOOT MALFORMATION 6, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, SPEECH-LANGUAGE DISORDER-1, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, LEBER OPTIC ATROPHY, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], CARDIOMYOPATHY, HYPERTROPHIC, 4, ?TETRA-AMELIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, BRACHYDACTYLY, TYPE A1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, WAARDENBURG SYNDROME, TYPE 4C, AROMATASE EXCESS SYNDROME, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, {HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, KLEEFSTRA SYNDROME, [URIC ACID CONCENTRATION, SERUM, QTL1], TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, RETINITIS PIGMENTOSA 13, ATRIAL SEPTAL DEFECT 2, AGAMMAGLOBULINEMIA 1, BRACHYDACTYLY, TYPE A2, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, COWDEN SYNDROME 7, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, CARPAL TUNNEL SYNDROME, FAMILIAL, [BONE MINERAL DENSITY VARIABILITY 1], MYOPATHY, MYOFIBRILLAR, 4, GLYCOGEN STORAGE DISEASE IC, HYPOTRICHOSIS 12, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, MEIER-GORLIN SYNDROME 2, POROKERATOSIS 3, MULTIPLE TYPES, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, PARKINSON DISEASE 6, EARLY ONSET, MYASTHENIC SYNDROME, CONGENITAL, 16, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, LIPOPROTEIN LIPASE DEFICIENCY, XERODERMA PIGMENTOSUM, VARIANT TYPE, DICARBOXYLIC AMINOACIDURIA, MENTAL RETARDATION, X-LINKED 72, DEAFNESS, X-LINKED 5, METACHONDROMATOSIS, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, SED, MAROTEAUX TYPE, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, MAY-HEGGLIN ANOMALY, ECTOPIA LENTIS ET PUPILLAE, OSTEOGENESIS IMPERFECTA, TYPE XVII, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, DEAFNESS, AUTOSOMAL DOMINANT 13, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, JERVELL AND LANGE-NIELSEN SYNDROME 2, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, IMMUNODEFICIENCY 20, EPISODIC PAIN SYNDROME, FAMILIAL, HETEROTOPIA, PERIVENTRICULAR, PARKINSON DISEASE 21, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, GLUTAMINE DEFICIENCY, CONGENITAL, ?RETINITIS PIGMENTOSA 67, GLYCOGEN STORAGE DISEASE VI, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ?CATARACT 43, MYOTONIC DYSTROPHY 1, COMPLEMENT FACTOR D DEFICIENCY, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, LEBER CONGENITAL AMAUROSIS 16, EPIDERMOLYSIS BULLOSA PRURIGINOSA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MACHADO-JOSEPH DISEASE, AMINOACYLASE 1 DEFICIENCY, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, ALBINISM, OCULOCUTANEOUS, TYPE III, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TOOTH AGENESIS, SELECTIVE, 7, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, EPIDERMOLYTIC HYPERKERATOSIS, DEAFNESS, AUTOSOMAL RECESSIVE 37, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, THYROID DYSHORMONOGENESIS 2A, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LEUKOENCEPHALOPATHY WITH ATAXIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, CARDIOMYOPATHY, HYPERTROPHIC, 12, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, PRIMARY PULMONARY HYPERTENSION, EPISODIC PAIN SYNDROME, FAMILIAL, 2, IMMUNODEFICIENCY 19, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, COFFIN-SIRIS SYNDROME 3, RHEUMATOID ARTHRITIS, STRIATONIGRAL DEGENERATION, INFANTILE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, [PHENYLTHIOCARBAMIDE TASTING], EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), CYLINDROMATOSIS, FAMILIAL, EPIDERMAL NEVUS, VAN DEN ENDE-GUPTA SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NON-IMMUNE HYDROPS FETALIS, ?IMMUNODEFICIENCY 25, EVEN-PLUS SYNDROME, [GLYCEROL QUANTITATIVE TRAIT LOCUS], MODY, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, ACNE INVERSA, FAMILIAL, 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 57, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, SPONDYLOPERIPHERAL DYSPLASIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DYSTONIA 25, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ANDERSEN SYNDROME, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, ADRENAL CORTICAL CARCINOMA, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, LEFT VENTRICULAR NONCOMPACTION 1, WITH OR WITHOUT CONGENITAL HEART DEFECTS, SPINOCEREBELLAR ATAXIA 17, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, PENDRED'S SYNDROME, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, C4A DEFICIENCY, CEREBELLOFACIODENTAL SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, SESAME SYNDROME, IMMUNODEFICIENCY 42, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, DEAFNESS, AUTOSOMAL DOMINANT 25, ATRIAL FIBRILLATION, FAMILIAL, 6, SEA-BLUE HISTIOCYTE DISEASE, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, XERODERMA PIGMENTOSUM, GROUP D, BRODY MYOPATHY, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, FECHTNER SYNDROME, ?ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, ATRANSFERRINEMIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2), SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, MEVALONIC ACIDURIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MOYAMOYA 6 WITH ACHALASIA, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, HYPOCHONDROPLASIA, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, CD8 DEFICIENCY, FAMILIAL, TRANSCOBALAMIN II DEFICIENCY, FOVEAL HYPOPLASIA 1, PARKINSONISM-DYSTONIA, INFANTILE, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 9, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, AURICULOCONDYLAR SYNDROME 2, LIMB-MAMMARY SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, KRABBE DISEASE, ATYPICAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, BRACHYDACTYLY, TYPE A1, D, ATRIAL FIBRILLATION, FAMILIAL, 7, SERKAL SYNDROME, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, OSTEOGENESIS IMPERFECTA, TYPE I, POLYCYTHEMIA VERA, SOMATIC, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, BURN-MCKEOWN SYNDROME, ?PRUNE BELLY SYNDROME, OCULOECTODERMAL SYNDROME, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, GLYCOGEN STORAGE DISEASE IXC, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ALCOHOL DEPENDENCE, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, TRYPSINOGEN DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, LEUKODYSTROPHY, HYPOMYELINATING, 12, CARDIOMYOPATHY, HYPERTROPHIC, 25, DUANE-RADIAL RAY SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, HYPOMAGNESEMIA 1, INTESTINAL, ALAGILLE SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 2, PLASMA FIBRONECTIN DEFICIENCY, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, CHILBLAIN LUPUS, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, GALACTOSE EPIMERASE DEFICIENCY, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LIDDLE SYNDROME, PHYTANIC ACID STORAGE DISEASE, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, BARTTER SYNDROME, TYPE 3, MUIR-TORRE SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, ATRIOVENTRICULAR SEPTAL DEFECT 5, {PARKINSON DISEASE 17}, RENAL ADYSPLASIA, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, [C3HEX, ABILITY TO SMELL], PALLISTER-HALL SYNDROME, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, ACROCAPITOFEMORAL DYSPLASIA, LONG QT SYNDROME 1, SPERMATOGENIC FAILURE 8, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, RING DERMOID OF CORNEA, KEPPEN-LUBINSKY SYNDROME, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HETEROTAXY, VISCERAL, 5, SPINOCEREBELLAR ATAXIA 5, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ?RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES, LYSINURIC PROTEIN INTOLERANCE, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EPISODIC PAIN SYNDROME, FAMILIAL, 3, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, {NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO}, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, PSORIASIS 2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SUPRAVALVAR AORTIC STENOSIS, EPISODIC ATAXIA, TYPE 2, STROMME SYNDROME, SINGLETON-MERTEN SYNDROME 1, ACNE INVERSA, FAMILIAL, 3, {GLIOMA SUSCEPTIBILITY 9}, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, THYROID HORMONE RESISTANCE, LONG QT SYNDROME 5, PERRY SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, FEINGOLD SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PREMATURE OVARIAN FAILURE 7, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PITUITARY DEPENDENT HYPERCORTISOLISM, SPINOCEREBELLAR ATAXIA 36, COWCHOCK SYNDROME, KERATOSIS, SEBORRHEIC, SOMATIC, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, SPINOCEREBELLAR ATAXIA 6, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, HYPOMAGNESEMIA 2, RENAL, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, OSTEOGLOPHONIC DYSPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 2A, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, RETINITIS PIGMENTOSA 1, GM1-GANGLIOSIDOSIS, TYPE I, CORNELIA DE LANGE SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, QUESTION MARK EARS, ISOLATED, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, AURICULOCONDYLAR SYNDROME 1, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, MACROCEPHALY/AUTISM SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MYOFIBROMATOSIS, INFANTILE 2, DARIER DISEASE, [SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN], [SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN], {UV-INDUCED SKIN DAMAGE}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, AMYOTROPHIC LATERAL SCLEROSIS 8, AGAMMAGLOBULINEMIA 6, GLAUCOMA 1, OPEN ANGLE, E, WAGNER SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, PARIETAL FORAMINA 1, THYROID DYSHORMONOGENESIS 4, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 2, FEBRILE SEIZURES, FAMILIAL, 3A, ALEXANDER DISEASE, CATARACT 21, MULTIPLE TYPES, PROPERDIN DEFICIENCY, X-LINKED, TREACHER COLLINS SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, SNOWFLAKE VITREORETINAL DEGENERATION, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, NEPHROTIC SYNDROME, TYPE 12, MENTAL RETARDATION, X-LINKED 90, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, DIAMOND-BLACKFAN ANEMIA 7, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HERMANSKY-PUDLAK SYNDROME 7, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C, AMYOTROPHIC LATERAL SCLEROSIS 20, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, SELECTIVE T-CELL DEFECT, MULTIPLE ENDOCRINE NEOPLASIA IIB, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, PULMONARY VENOOCCLUSIVE DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, COLE-CARPENTER SYNDROME 2, DYSTONIA-11, MYOCLONIC, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, FRONTOTEMPORAL DEMENTIA, PANCREATIC AGENESIS 1, POROKERATOSIS 7, MULTIPLE TYPES, ?RETINAL ARTERIES, TORTUOSITY OF, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BILE ACID MALABSORPTION, PRIMARY, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14}, MACULAR DYSTROPHY, RETINAL, 2, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATRIAL FIBRILLATION, FAMILIAL, 3, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, BECKWITH-WIEDEMANN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, SECKEL SYNDROME 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, AORTIC ANEURYSM, FAMILIAL THORACIC 8, PEUTZ-JEGHERS SYNDROME, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, SYNDACTYLY, TYPE III, IMMUNODEFICIENCY 44, BRUNNER SYNDROME, FANCONI-BICKEL SYNDROME, FAMILIAL COLORECTAL CANCER, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, OVARIAN HYPERSTIMULATION SYNDROME, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, HARTNUP DISORDER, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WELANDER DISTAL MYOPATHY, NOONAN SYNDROME 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?JOUBERT SYNDROME 22, TRIFUNCTIONAL PROTEIN DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIANG DISTAL MYOPATHY, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SEIZURES, BENIGN NEONATAL, TYPE 2, KERATITIS, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, BARTTER SYNDROME, TYPE 4B, DIGENIC, OGDEN SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, RETINITIS PIGMENTOSA 45, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, GLAUCOMA 1A, PRIMARY OPEN ANGLE, EXUDATIVE VITREORETINOPATHY 1, TOOTH AGENESIS, SELECTIVE, 1, WITH OR WITHOUT OROFACIAL CLEFT, CARDIOMYOPATHY, DILATED, 1A, TYROSINEMIA, TYPE I, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, GABA-TRANSAMINASE DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, MENKES DISEASE, PLEUROPULMONARY BLASTOMA, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PLASMA TRIGLYCERIDE LEVEL QTL, LOW, CPT DEFICIENCY, HEPATIC, TYPE IA, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, DYSTONIA-PARKINSONISM, X-LINKED, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, LEUKEMIA, CHRONIC MYELOID, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 39, THYROID DYSHORMONOGENESIS 5, IMMUNODEFICIENCY, COMMON VARIABLE, 4, {METABOLIC SYNDROME, PROTECTION AGAINST}, OSTEOGENESIS IMPERFECTA, TYPE XV, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PICK DISEASE, HYPOMYELINATION, GLOBAL CEREBRAL, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, TENORIO SYNDROME, CHEDIAK-HIGASHI SYNDROME, BRACHYOLMIA TYPE 3, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, PROSTATE CANCER 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ANEMIA, SIDEROBLASTIC, 4, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, FACTOR XIIIB DEFICIENCY, ATELOSTEOGENESIS, TYPE I, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, NEPHROLITHIASIS, TYPE I, WEAVER SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, WAARDENBURG SYNDROME, TYPE 2D, ATRIAL SEPTAL DEFECT 6, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, FAMILIAL MEDITERRANEAN FEVER, AR, HEPATIC ADENOMA, SOMATIC, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MEIER-GORLIN SYNDROME 5, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, RENAL CYSTS AND DIABETES SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, CHOREA, HEREDITARY BENIGN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, FOLATE MALABSORPTION, HEREDITARY, RETICULATE ACROPIGMENTATION OF KITAMURA, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, TOOTH AGENESIS, SELECTIVE, 4, BROOKE-SPIEGLER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, LONG QT SYNDROME 14, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, OTOPALATODIGITAL SYNDROME, TYPE I, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, DYSTONIA 9, MYELOPEROXIDASE DEFICIENCY, STICKLER SYNDROME, TYPE II, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, OPTIC ATROPHY PLUS SYNDROME, LACTASE DEFICIENCY, CONGENITAL, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CLEFT PALATE, ISOLATED, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, NEPHROTIC SYNDROME, TYPE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, SPINOCEREBELLAR ATAXIA 1, LACTASE PERSISTENCE/NONPERSISTENCE, HYPERTENSION AND BRACHYDACTYLY SYNDROME, DEMENTIA, FAMILIAL BRITISH, AVASCULAR NECROSIS OF THE FEMORAL HEAD, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, DEAFNESS, AUTOSOMAL DOMINANT 64, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CORNELIA DE LANGE SYNDROME 2, BIOTINIDASE DEFICIENCY, ROBINOW SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, AORTIC ANEURYSM, FAMILIAL THORACIC 6, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, CARDIOMYOPATHY, HYPERTROPHIC, 11, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, C1Q DEFICIENCY, HOLOPROSENCEPHALY-3, ERYTHROCYTOSIS, FAMILIAL, 2, BOOMERANG DYSPLASIA, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, COMPLEMENT FACTOR I DEFICIENCY, PAPILLARY THYROID CARCINOMA, DYSTONIA 16, HYPOBETALIPOPROTEINEMIA, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, AICARDI-GOUTIERES SYNDROME 6, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, DEAFNESS, AUTOSOMAL RECESSIVE 53, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, HEART-HAND SYNDROME, SLOVENIAN TYPE, TUMOR PREDISPOSITION SYNDROME, OVARIAN RESPONSE TO FSH STIMULATION, NEUROCUTANEOUS MELANOSIS, SOMATIC, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, CPT II DEFICIENCY, LETHAL NEONATAL, LOEYS-DIETZ SYNDROME 4, ACROKERATOSIS VERRUCIFORMIS, REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, POPLITEAL PTERYGIUM SYNDROME 1, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, WERNER SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, DENT DISEASE, DEJERINE-SOTTAS DISEASE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, AORTIC VALVE DISEASE 2, DEAFNESS, AUTOSOMAL RECESSIVE 68, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP A, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, PEROXISOME BIOGENESIS DISORDER 2B, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, CAPOS SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?THROMBOXANE SYNTHASE DEFICIENCY, IMMUNODEFICIENCY 40, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ENCEPHALOPATHY, NEONATAL SEVERE, FILS SYNDROME, [FLECK RETINA, FAMILIAL BENIGN], HYPOPLASTIC LEFT HEART SYNDROME 2, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, CHYLOMICRON RETENTION DISEASE, HYPOPHOSPHATEMIC RICKETS, AR, AXENFELD-RIEGER SYNDROME, TYPE 1, SENIOR-LOKEN SYNDROME 6, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, C8 DEFICIENCY, TYPE I, JERVELL AND LANGE-NIELSEN SYNDROME 1, {PSORIASIS SUSCEPTIBILITY 1}, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 91, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, LEFT VENTRICULAR NONCOMPACTION 7, COFFIN-SIRIS SYNDROME 4, CRYOHYDROCYTOSIS, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, BERGER DISEASE, INTRINSIC FACTOR DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, PREMATURE OVARIAN FAILURE 1, CORNELIA DE LANGE SYNDROME 1, {EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO}, {EPILEPSY, IDIOPATHIC GENERALIZED, 10}, FISH-EYE DISEASE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, ?SPINOCEREBELLAR ATAXIA 26, NEPHRONOPHTHISIS 15, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, ?CATARACT 30, PULVERULENT, FACTOR VII DEFICIENCY, FAMILIAL MEDITERRANEAN FEVER, AD, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SMED STRUDWICK TYPE, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, NEPHROTIC SYNDROME, TYPE 4, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, MASP2 DEFICIENCY, CEREBROOCULOFACIOSKELETAL SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, ?46XY SEX REVERSAL 5, ?RETINITIS PIGMENTOSA 66, ATRIAL FIBRILLATION, FAMILIAL, 9, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MASA SYNDROME, CRASH SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, BRACHYDACTYLY, TYPE B1, ACHROMATOPSIA 7, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, EPISODIC ATAXIA, TYPE 5, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, EPILEPSY, PROGRESSIVE MYOCLONIC 6, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, [NOVELTY SEEKING PERSONALITY], MYOPATHY, MYOFIBRILLAR, 2, MYOPATHY, TUBULAR AGGREGATE, 1, HERMANSKY-PUDLAK SYNDROME 1, USHER SYNDROME, TYPE IJ, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, ?HYPERPROLACTINEMIA, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, AGAMMAGLOBULINEMIA, X-LINKED 1, EBD, BART TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, PSEUDOHYPOPARATHYROIDISM IC, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, {MACULAR DEGENERATION, AGE-RELATED, 2}, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, NEPHRONOPHTHISIS 4, PITYRIASIS RUBRA PILARIS, LIEBENBERG SYNDROME, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, HYPERFERRITINEMIA-CATARACT SYNDROME, PYRUVATE KINASE DEFICIENCY, LUJAN-FRYNS SYNDROME, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, CATSHL SYNDROME, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, FUHRMANN SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, LYNCH SYNDROME I, JACKSON-WEISS SYNDROME, {BUDD-CHIARI SYNDROME}, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FACTOR X DEFICIENCY, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, SCHOPF-SCHULZ-PASSARGE SYNDROME, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, SHORT QT SYNDROME 2, ?DEAFNESS, X-LINKED 6, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, BLEEDING DISORDER, PLATELET-TYPE, 15, TREMOR, HEREDITARY ESSENTIAL, 4, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, HAILEY-HAILEY DISEASE, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, SENIOR-LOKEN SYNDROME-1, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, CEREBRAL AMYLOID ANGIOPATHY, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, GLYCOGEN STORAGE DISEASE 0, LIVER, SECKEL SYNDROME 5, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, KNIEST DYSPLASIA, OPTIC NERVE HYPOPLASIA, XERODERMA PIGMENTOSUM, TYPE 1, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, HYPERPARATHYROIDISM, NEONATAL, THYROID DYSHORMONOGENESIS 3, CALCIUM OXALATE UROLITHIASIS, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, PARASTREMMATIC DWARFISM, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, ?PRECOCIOUS PUBERTY, CENTRAL, 1, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, CONE-ROD DYSTROPHY 10, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, MYOPATHY DUE TO CPT II DEFICIENCY, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, WOLCOTT-RALLISON SYNDROME, MUCKLE-WELLS SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, HEMOPHILIA B, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, PAGET DISEASE OF BONE 3, DEAFNESS, AUTOSOMAL RECESSIVE 84A, THROMBOCYTOPENIA 4, UTERINE LEIOMYOMA, CARDIOMYOPATHY, HYPERTROPHIC, 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MECKEL SYNDROME 4, MYOTONIC DYSTROPHY 2, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEPHROTIC SYNDROME, TYPE 6, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

1436

CA2, TSC2, IHH, MSH6, GP1BA, AGRP, RPL5, FTL, LRRK2, PRPF3, SEMA4A, UNC45B, SCARF2, DNM2, MS4A1, CREBBP, MSX2, STXBP1, RASA1, APOA1, GK, ABCD3, IFNAR2, CD79A, CARD9, DAG1, PAX7, NCSTN, NR1I3, SPARC, AP1S2, VPS33B, MIB1, ITPR1, RPS10, LPP, ALDOA, PRKRA, DDR2, IL2RA, GABBR2, NOS1AP, CEP290, C1R, CTDP1, PCK1, CD82, GLDC, KAT5, KCNA2, ABCB4, NOS2, CNGB1, A2M, IL1B, SI, EFNB1, RAF1, XRCC4, CALCR, TAT, TNFSF11, HINT1, HNRNPK, LAMC2, NPHP1, PTPRQ, PDE4D, RPL21, IFT27, COMT, P2RY12, EGR2, COL4A3, EHHADH, FCGR3A, SLC26A3, KCNB1, GHRL, LIPA, ATXN3, POLR3B, TSC1, CNGA1, MC1R, ACTG2, CTNNA1, PEX14, CYBA, WNT5A, NAA10, MTNR1B, PGK1, ACTN1, ANK2, CYLD, COX6A1, CDK4, MYOC, TRPM6, ROBO3, TGFBI, PCNT, PRF1, ERBB2, RP1, SLC6A4, MAOA, CYB5R3, COL9A1, CSF2RB, ADCY6, SLC17A8, SHOC2, PYGL, IL12B, ATP2A1, CA4, PITX1, FZD4, SLC1A1, TGIF1, PTH, SEMA3D, KAT6B, MEN1, GDNF, TNFRSF11A, STAT3, KAT6A, NCF1, ALPL, SLC2A2, EMD, FLT4, MYBPC3, SC5D, ALOX5, SMC1A, ATXN1, KARS, OPTN, GLI2, TJP2, IRF1, POLH, BCR, DDX41, DYRK1A, XPR1, FOXG1, NTRK1, MSX1, DRD3, SPTLC1, TUBA4A, CACNA1C, RFX5, COL9A3, PMVK, GYS2, FCGR2B, ITM2B, PCSK9, CEBPE, PMPCA, CD8A, ODC1, PDX1, SOD1, F2, MED13L, FAS, SERPINB6, IKBKG, NRXN1, BSND, CDH1, CC2D1A, FRZB, STK11, LCAT, MBL2, SIM1, FGFR4, NOP56, PIK3CA, BMPER, PRKCG, NF1, ACTA1, GRIP1, MYOM1, PTPRJ, SMARCA4, HTR1A, IL10, IL31RA, EGFR, IRAK3, IGF2, NOS3, CCND1, SH3BP2, CHRDL1, ITGA2, CEL, CACNB2, SDC3, TALDO1, SLC6A5, GLIS3, ABCG8, TSHB, ACVR1, CDON, TPO, GDI1, ADCY10, SGCE, IRF5, PAX2, SLC9A6, ITGB2, CCL2, CYBB, FBN1, TBX21, PPP2R5D, COL27A1, NONO, FGFR3, GSN, STAT2, GABRG2, GPD1, FAH, NRAS, PRKCD, EPHB2, TLR4, BAAT, PTGER2, TNFAIP3, PRPF4, ATP7A, TCF4, KCNE2, BAX, SP110, GNAL, PLOD2, COL18A1, SEMA3A, EDNRB, ACTN2, AGPAT2, SLC25A12, CD46, PLAU, KISS1, ACOX1, SLC52A3, ERCC1, COL9A2, IRF7, AGTR1, PHYH, EDN1, RYR2, BMP4, SLC24A1, SCN8A, SNAI2, COL13A1, CD40, CNTNAP1, THRB, WNT7A, PRSS2, DVL3, TNFRSF13C, DNAJC5, WRN, PLA2G2A, GLUL, PTGIS, PGR, NR0B1, PRX, RELN, NCF2, EP300, ATP6V0A2, UBB, NOTCH3, PCNA, LRP6, GDF2, PLIN1, TNFRSF13B, TTR, SERPIND1, SLC7A9, IGFBP7, GCK, SLC4A4, VPS35, CIB2, ELANE, CFTR, NUP93, PHKA1, SYP, SLC12A5, CHRM3, AXIN1, FZD6, COL25A1, BRF1, IRF3, STX1B, NEB, INSR, MYLK2, PITX2, MSH2, CD3G, COX4I2, UNC119, POLR2F, ITGB3, WDR45, DNAJC3, NR0B2, MTHFD1, PPP2R1B, SHH, HBB, PROS1, HSPB1, LMNA, CYP2C19, NALCN, CIITA, ACAT2, UBA1, KCNH2, LHX3, PEX13, RAB7A, JPH1, TRIM32, G6PC, WNK1, GFI1B, GPX1, DMP1, VLDLR, IL1RN, SOX2, AXIN2, THRA, C5, MTOR, BLK, LEP, PIK3CD, IFNG, AIFM1, DSP, SMARCE1, JAK2, ANK1, TNNT1, TUBGCP4, ATP6V1B2, DEAF1, SMC3, ARG1, KCNC1, IGKC, MT-CO1, TAB2, TGFBR1, CTNNB1, SMAD4, CTSK, YARS, LRP5, CLCN2, PPP2R1A, TUBB, RIPK4, INPPL1, AIP, UBE3A, ARID1B, GLI3, CSNK1D, CD59, MCM6, EYA1, PER3, GIF, GNAO1, AP4M1, GATA4, RARS, PLCB1, MT-CO2, COL5A2, COL6A1, LPL, SEC23B, STAR, BDNF, CD36, JAM3, HLA-DQB1, FMN2, ALB, APOA5, TAP2, DICER1, APOB, MMP1, CPT2, HSF4, MS4A2, AP4B1, IRX5, WT1, ACSL4, NDUFB11, MVD, NR2E3, CALR3, SF3B4, LDHA, DDC, CNTN2, TRPC3, SLC26A4, NPPA, SLC19A3, IL11RA, EDNRA, MEF2C, NR2F2, MYO18B, KIF5C, NLRP3, JUP, PRKG1, CACNA1A, CASR, FANCA, RB1, NFKBIL1, ATF6, CETP, STIM1, GRIN2B, TSG101, MT-ATP6, ADAR, BHLHE41, CBS, MEF2A, OR2J3, COL4A4, BMP2, HSD11B2, AKAP9, VDR, FIBP, PARK2, ETFA, HLA-C, IKBKB, SCNN1G, ARL6IP1, MAPK8IP1, PSTPIP1, KCNQ2, NT5C2, ABCB11, GUCY1A3, KIT, SCYL1, COX7B, BARD1, KRT8, FBLN1, DSPP, CYP19A1, NR5A1, ITGB4, PEPD, DARS, DTNBP1, MAP3K1, DUOX2, ACTN4, AIPL1, POLR1C, SLC6A1, SLC10A2, SORT1, RNASEL, ADA, SMAD3, HSPG2, ESR1, SERPINE1, IL21, DYRK1B, CD3D, FSHB, F7, CYP27A1, CTSA, NTF3, AGT, SEPT9, PPP1R3A, KDM1A, NPHP4, KMT2A, MAP3K8, IL21R, TH, RFXAP, GABRA2, HNRNPA1, SERPING1, PRKAG2, PRKACG, DRD2, TWIST2, PLCE1, NOTCH2, RBP3, TIA1, CAD, GATA2, SCNN1A, GALT, GFPT1, ICOS, GNAQ, LRSAM1, POLR1D, PFKM, FOXO1, TMEM173, PTPN1, MPC1, CLDN16, RPS6KA3, INS, DNM1L, KCNA5, CD44, KCNN4, PITX3, CPT1C, KCNMB1, CNTN1, SNTA1, VHL, CCT5, HNF4A, TG, FN1, PSAP, ALOX12B, DCTN1, HCCS, TRPM7, ABCG2, PTEN, F13A1, SLC9A3R1, PLG, KLF6, CHEK2, PUF60, PHKG2, JAK3, AFP, STAMBP, KITLG, POLE, ATM, MXI1, STX11, TCN2, HRAS, OCLN, C8A, GRIK2, PRLR, C8B, AVP, PNLIP, DISC1, DRD4, FXN, ACP5, GLB1, SLC1A3, NBN, HAX1, ACAT1, COL5A1, ARHGEF9, SLC11A2, KISS1R, DOCK2, CDKN2A, VIM, TGM1, AFG3L2, HIP1, POU1F1, ABCC2, IRS1, CATSPER1, TUBA1A, NKX2-5, TCF7L2, GP1BB, CACNA1D, CRX, NHLRC1, ARFGEF2, HELLS, AQP7, KRT18, THPO, PROM1, COL4A2, TUBG1, SLC4A1, CD81, SLC7A7, ITK, GLUD1, PAX8, QARS, PLA2G6, REN, VAPB, MYH3, COL4A1, VWF, PEX19, MECP2, PDCD1, MUC7, CCND2, MRPL3, IGF1R, C1QB, NEFL, GABRA1, AMPD2, TBC1D7, GATA6, SLC37A4, IFT80, ADAM10, ITPR3, FGF9, SNAP29, PLN, LCK, CSF3R, FLNA, POLR3A, HBA1, GOSR2, PRKACA, CD19, TRPS1, MASP1, PLCG2, DRD5, CDKN1B, MYCN, WNT1, FLNC, DCC, FASLG, DNMT3B, NHP2, MYH11, ATR, SELP, PORCN, CALM1, FGFR1, RASGRP2, LBR, CUL3, TBXA2R, ATP6V1B1, CACNA2D4, KRIT1, HDC, SLC6A3, CDC6, SLC5A5, B2M, RANBP2, FH, WNT4, SEC23A, PRKCH, POR, TGFBR2, NGF, MAFB, SLC6A19, AQP2, NF2, SCN4A, PIK3R5, F9, PICALM, LAMA1, CFH, HMGA1, BMPR1A, CBL, KCNJ1, NKX2-1, CNTN5, HSPD1, MT-CYB, GAD1, TNNT2, SH2D1A, HTR2A, FXYD2, PDE6B, ACVR1B, TAS2R16, HNF1B, SETD2, ETV6, CEP63, CD40LG, PSEN2, CTSD, NUP62, MMACHC, TAPBP, PPIB, PCYT1A, LHB, SLC5A1, LRPAP1, SLC19A1, LRAT, PDE6G, PEX5, ECHS1, XPC, SCGB1A1, CFP, CSF1R, SLC2A1, AICDA, SLC9A1, SLC46A1, DIABLO, KNG1, PIK3R2, RFXANK, CXCR4, SPRY4, GPHN, SCRIB, FLT3, HLA-B, CENPE, WNT10A, EPHA2, PAK3, CTCF, CUBN, TF, TCAP, P2RX1, COL11A1, PIGR, MAD1L1, MITF, TREX1, ORC4, MYC, F5, SEMA3E, PSEN1, ASCC1, NCF4, ACY1, FGF23, CDK5RAP2, SPTAN1, MT-CO3, KCNE3, SOS1, S1PR2, TYROBP, CACNB4, USP8, CD79B, GNAI2, ATN1, SOX9, FOXL2, SERPINA1, GUCY2D, HOMER2, PKLR, CABP4, CYP3A5, CORO1A, PLOD3, SCARB2, CFL2, KCNE1, EARS2, CD247, TCIRG1, PPP1R17, RAB18, BRAF, SNAP25, MALT1, UBE2A, BLNK, C2, KRT5, SMAD9, GUCA1A, KIF2A, KLC2, EEF2, NFKB2, KCNJ5, MFAP5, TNFRSF11B, SCN4B, SIK1, SLC5A7, DVL1, CNGA3, SLC16A2, ATP2B2, SEC24D, MAF, LYZ, DYNC1H1, TLR2, SERPINF2, USH2A, SH2B3, AR, CHRNE, VPS45, NODAL, ACTG1, ASXL1, KCNJ10, ABCG5, CYP1B1, PCLO, TINF2, IL6, DCN, HCFC1, APC, ADAM17, FCGR2A, PLCB4, UCP1, C3AR1, TNNI3, LCT, CST3, TPM1, SQSTM1, TBX19, PLCD1, MUC1, ADRB3, GNAI3, CDK5, LIPE, PDE6D, ABCA4, JAG1, C1QC, PRPH, GRID2, COL2A1, BAP1, PRSS1, RUNX1, RB1CC1, SLC39A4, MAPT, KIF5A, MSMO1, HRG, ABCA1, COMP, ITGA6, MMP13, NFKBIA, DSE, C3, ERCC5, UQCRQ, TSHR, CYP2D6, ERCC8, ABCC8, SLCO1B1, GNB4, MUC5B, SDHD, HLA-DRB1, SYN1, GAL, CARD14, BCS1L, RAPSN, PLK4, PRKAR1A, ITPR2, ACACA, ISG15, HNF1A, TNFRSF10B, MTTP, FADD, GRIN2A, SLC40A1, SMARCB1, IL17RA, CLDN1, GRM6, IL13, TYK2, CBX2, SGCG, TLL1, CACNA1S, IYD, TNC, CD27, HTRA1, TUFM, F13B, CAV3, CLDN14, CNBP, MYD88, TAP1, TUBB1, MYO5A, OTX2, PTHLH, EIF2B2, SOX10, ING1, COL6A3, MRAP, EFEMP2, MASP2, NEU1, PIP5K1C, MYL3, ERCC2, SLC3A1, PDGFRB, EIF2B4, HLA-DQA1, FGD1, ANXA5, GRM1, ACE, APOA2, KRAS, PAX6, EPHX1, MID1, GNB3, AGRN, IGHM, PDE3A, HTT, AVPR2, CRYAB, ARHGEF6, ZBTB16, NLRP1, PTPRC, IFNGR1, NUP214, TUBA8, LARS, DUOXA2, PQBP1, IL7R, SMARCA2, PRODH, MYLK, TGFB3, NLRC4, CTLA4, DMD, CHRNA1, PYGM, C1QA, EIF2AK4, TUBB2A, PRKDC, NDUFS1, DDX58, CFI, MED12, SEC63, ATP1A3, MPDZ, CHRNA4, HLA-G, LDB3, ACADM, SHANK3, DDOST, TRAC, LMBRD1, SUMF1, DNAJC13, BIN1, PLA2G5, DHCR7, HPCA, ATP1B1, SCN5A, MC4R, CASK, IKBKAP, GATA5, AKT3, DLC1, FGFR2, NPHS1, CPT1A, RPL11, NKX3-2, L1CAM, RET, SPTBN2, KCNJ2, KCNQ4, HACE1, NEK2, RNF125, BMPR1B, CR2, ATIC, TPM3, APOE, HGF, LAMB1, GNAS, IGF2R, COL3A1, VMA21, SCN10A, LHCGR, NOG, DST, ITGA3, ADRB2, ACTC1, DYNC2H1, PHKB, IFIH1, KL, ERBB3, PHKA2, HAMP, COL6A2, LONP1, P4HB, RNF216, GNRHR, BUB1B, ABAT, ADCY1, TAF6, BTD, TUBB2B, SERPINC1, KLKB1, PER2, SUCLA2, VEGFC, ROR2, FUS, DDX3X, T, TAS2R38, PPP2R2B, TP63, DUSP6, GATA1, AGL, SLC35A2, EFEMP1, SCNN1B, TPM2, SLC19A2, CFB, NARS2, AKT1, TPI1, AURKA, PINK1, EZH2, PCK2, PTPRO, HSPA9, POMC, NOD2, POLA1, AQP5, PTPN11, PTPN12, SPG7, DMPK, VPS11, DNAL4, IQCB1, FMR1, SNRNP200, CLCNKB, SMAD6, SYNGAP1, EPS8, DGAT1, FBP1, ATP2A2, HADHB, WNT10B, NR4A2, ACTB, GRN, CACNA1B, COL1A2, GFAP, ITGA2B, G6PC3, FGA, IL4R, MYO1E, COL4A5, NPR2, PROK2, DES, CYCS, MPO, MEFV, ARHGDIA, AHSG, CAPN3, SLC9A3, CUL7, ANGPTL4, SCN1B, SCN11A, GABRD, NME1, FSHR, SGCA, NOTCH1, ERCC3, ATP2B3, NPM1, GPI, CD3E, VCAN, MVK, RASSF1, SPINT2, SCP2, COL4A6, LIPC, GP6, RBPJ, ACTA2, SLC26A5, SOS2, CALR, DPH1, IGF1, TREM2, FGB, CHAT, NEUROD1, PTH1R, NDN, TXNL4A, TP53, LRP2, CASP8, SNCA, HK1, ERBB4, MYH6, DLG3, KCNMA1, PTS, PAX3, KRT1, PRKCSH, TGFB1, PGM1, FTH1, RRAS2, CARD11, EIF2AK3, APPL1, F8, LDLR, CYP2A6, DNMT1, ADAMTSL4, HSD3B2, EPOR, SLC25A20, CFD, GCGR, SLC34A1, CHM, PKD1, SALL1, RAD21, CENPF, AP2S1, KCNJ6, RAB39B, TRAPPC2, EIF4A3, MTPAP, MYO3A, SALL4, ITCH, COX8A, TBK1, GATA3, HMGCS2, DNM1, CLCN5, FERMT3, TNF, EDA, ATP1A2, GNAT1, CACNA1F, CEP152, PROC, ORAI1, SNCAIP, MET, ICK, IRF8, KRT16, EEF1A2, MAG, NR2F1, TNFRSF1A, SPRY2, GSC, GP9, WAS, VCP, ACD, TYRP1, COL11A2, COL7A1, SLCO1B3, RPS14, HSD17B10, FOXP2, PPM1D, CSRP3, GNA11, USP9X, SLC34A2, CEP164, RDX, BRCA1, NR3C1, TUBB3, KLF1, MNX1, ATP5A1, RPSA, SCN1A, RHO, GUCY2C, RPS19, TRPV3, TRPV4, THBD, KCNJ13, SSR4, KCNQ1, KCNQ3, MYH7, STUB1, EIF2B1, WNT3, BCL10, MED25, ANK3, TBP, MYH9, FGF10, CD244, ATP6AP2, ZHX2, TRH, APP, F12, F10, IRS2, ZAP70, BAG3, IRF6, PEX7, CYP17A1, FLNB, PTPRF, PDGFB, CAV1, POLR1A, PRPF8, COL1A1, POT1, TYR, TBX3, PPARG, HIBCH, BTK, COX6B1, CLASP1, ARHGAP26, TFRC, FGG, SLC2A4, TRPA1, SYN2, GLUD2, LYST, LRP1, RYR1, AKT2, CTNNA3, EIF4G1, COPA, CLDN19, C4A, STAT1, ATP2C1, PDGFRA, TAF1, MYO6, NR3C2, PCBD1, ADCY5, RORC, BMPR2, GPC3, KCNJ11, CACNA1G, GJA1, CCL11, COL17A1, TGFB2, MYO5B, FOXP3, MMP2, GALE, HOXB1, UQCRC2, GYS1, ELN, MED17, MAP2K2, CYP2C9, CDKN1C, OGDH, MUSK, WDR34, RUNX2, SAR1B, IFNGR2, STX16, TRPM4, RETN, CASP10, NFKB1, SELE, PACS1, OPA1, TBX6, DTNA, TBXAS1, ITGA7, GNRH1, CYC1, KDR, UQCRB, HFE, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Global and overview mapsYesN7.22984e-201.341180

{HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, LONG QT SYNDROME 12, ?DEAFNESS, AUTOSOMAL RECESSIVE 103, ?EPILEPSY, FAMILIAL TEMPORAL LOBE, 8, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, HYPER-IGE RECURRENT INFECTION SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, SPINOCEREBELLAR ATAXIA 38, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, 46,XX SEX REVERSAL, TYPE 2, OTOPALATODIGITAL SYNDROME, TYPE II, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, ACHONDROPLASIA, LEUKOTRIENE C4 SYNTHASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, CAPOS SYNDROME, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ?IMMUNODEFICIENCY 39, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, GLUTARICACIDURIA, TYPE I, PULMONARY VENOOCCLUSIVE DISEASE 1, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, MYOPIA 6, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, RETINITIS PIGMENTOSA, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, CATSHL SYNDROME, MIYOSHI MUSCULAR DYSTROPHY 1, POROKERATOSIS 3, MULTIPLE TYPES, MOLYBDENUM COFACTOR DEFICIENCY A, SICKLE CELL ANEMIA, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, FRONTOTEMPORAL DEMENTIA, CEREBROTENDINOUS XANTHOMATOSIS, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, MEDULLARY CYSTIC KIDNEY DISEASE 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ?PROGESTERONE RESISTANCE, ?UROCANASE DEFICIENCY, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, ?REYNOLDS SYNDROME, EXOSTOSES, MULTIPLE, TYPE 1, MANDIBULOACRAL DYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, MUIR-TORRE SYNDROME, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, ?IMMUNODEFICIENCY 22, ATAXIA-TELANGIECTASIA-LIKE DISORDER, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, [FRUCTOSURIA], CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, VAN BUCHEM DISEASE, TYPE 2, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 4, CORNELIA DE LANGE SYNDROME 1, LEUKODYSTROPHY, HYPOMYELINATING, 11, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MEND SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, PEPCK DEFICIENCY, MITOCHONDRIAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, RIPPLING MUSCLE DISEASE, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 15, PYRUVATE CARBOXYLASE DEFICIENCY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, [BILIRUBIN, SERUM LEVEL OF, QTL1], AORTIC ANEURYSM, FAMILIAL THORACIC 8, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, EHLERS-DANLOS SYNDROME, TYPE 3, ?OPTIC ATROPHY 9, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, SYNDACTYLY, TYPE III, NAXOS DISEASE, IMMUNODEFICIENCY 44, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, BRUNNER SYNDROME, ANGELMAN SYNDROME, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, FAMILIAL COLORECTAL CANCER, DOWLING-DEGOS DISEASE 1, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, LEBER OPTIC ATROPHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, CITRULLINEMIA, [FLECK RETINA, FAMILIAL BENIGN], VENTRICULAR SEPTAL DEFECT 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, LONG QT SYNDROME 15, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, GLUTAMINE DEFICIENCY, CONGENITAL, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, PENDRED'S SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, PARAGANGLIOMAS 3, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, LUSCAN-LUMISH SYNDROME, KLEEFSTRA SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, IMMUNODEFICIENCY 38, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CATARACT 38, AUTOSOMAL RECESSIVE, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, ARTS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, GHOSAL HEMATODIAPHYSEAL SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, MIRROR MOVEMENTS 2, GLYCOGEN STORAGE DISEASE IA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RETINITIS PIGMENTOSA 13, HYPOSPADIAS 1, X-LINKED, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?N-ACETYLASPARTATE DEFICIENCY, UV-SENSITIVE SYNDROME 2, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, ATRIAL SEPTAL DEFECT 2, MUCOPOLYSACCHARIDOSIS VII, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, TRIGONOCEPHALY 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, CILIARY DYSKINESIA, PRIMARY, 6, BRACHYDACTYLY, TYPE A2, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, XANTHINURIA, TYPE I, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, CARDIOMYOPATHY, HYPERTROPHIC, 2, NICOLAIDES-BARAITSER SYNDROME, MENTAL RETARDATION, X-LINKED 63, KERATITIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, DEAFNESS, AUTOSOMAL DOMINANT 17, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, CORNELIA DE LANGE SYNDROME 5, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, GLYCOGEN STORAGE DISEASE VI, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, OGDEN SYNDROME, [GILBERT SYNDROME], {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, RETINITIS PIGMENTOSA 45, HYPERPROLINEMIA, TYPE II, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), GLAUCOMA 1A, PRIMARY OPEN ANGLE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYASTHENIC SYNDROME, CONGENITAL, 16, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, TYROSINEMIA, TYPE I, MALONYL-COA DECARBOXYLASE DEFICIENCY, HYPERLYSINEMIA, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), PSEUDOHYPOPARATHYROIDISM IA, PEROXISOME BIOGENESIS DISORDER 11B, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, HMG-COA SYNTHASE-2 DEFICIENCY, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, MYOPATHY, DISTAL, TATEYAMA TYPE, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CPT DEFICIENCY, HEPATIC, TYPE IA, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, LEUKOCYTE ADHESION DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), PSEUDOHYPOALDOSTERONISM, TYPE IIC, CRANIOSYNOSTOSIS, TYPE 2, CPT DEFICIENCY, HEPATIC, TYPE II, DEAFNESS, X-LINKED 5, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, COENZYME Q10 DEFICIENCY, PRIMARY, 3, SACCHAROPINURIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, {PANIC DISORDER, SUSCEPTIBILITY TO}, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?CARDIOMYOPATHY, DILATED, 2A, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, PREMATURE OVARIAN FAILURE 7, CROUZON SYNDROME, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, ALPHA-METHYLACETOACETIC ACIDURIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, GAUCHER DISEASE, TYPE I, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, HPRT-RELATED GOUT, ANEMIA, SIDEROBLASTIC, 1, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, IMMUNODEFICIENCY 24, ?DIARRHEA 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, HETEROTOPIA, PERIVENTRICULAR, COLE DISEASE, TYROSINEMIA, TYPE II, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, FANCONI ANEMIA, COMPLEMENTATION GROUP C, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, ?LICHTENSTEIN-KNORR SYNDROME, NEPHRONOPHTHISIS 1, JUVENILE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, AORTIC ANEURYSM, FAMILIAL THORACIC 4, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BARTH SYNDROME, NON-IMMUNE HYDROPS FETALIS, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, IMMUNODEFICIENCY 8, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PARAGANGLIOMAS 5, MYOTONIC DYSTROPHY 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, [AMP DEAMINASE DEFICIENCY, ERYTHROCYTIC], ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WEAVER SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, D-BIFUNCTIONAL PROTEIN DEFICIENCY, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, LACTASE DEFICIENCY, CONGENITAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AMINOACYLASE 1 DEFICIENCY, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V, CEREBROOCULOFACIOSKELETAL SYNDROME 4, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, FARBER LIPOGRANULOMATOSIS, LEOPARD SYNDROME 3, CEROID LIPOFUSCINOSIS NEURONAL 6, HYPOPHOSPHATASIA, INFANTILE, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, CARCINOID TUMORS, INTESTINAL, ALBINISM, OCULOCUTANEOUS, TYPE III, CORNEAL DYSTROPHY, CONGENITAL STROMAL, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, TYROSINEMIA, TYPE III, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, CLEFT PALATE, ISOLATED, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, ATAXIA-TELANGIECTASIA, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, CARDIOMYOPATHY, DILATED, 1NN, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?PERRAULT SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE IV, DIAMOND-BLACKFAN ANEMIA 9, GM1-GANGLIOSIDOSIS, TYPE I, MYOCLONUS, FAMILIAL CORTICAL, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, THYROID DYSHORMONOGENESIS 2A, LOEYS-DIETZ SYNDROME 3, COENZYME Q10 DEFICIENCY, PRIMARY, 7, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CUTIS LAXA, AUTOSOMAL DOMINANT 3, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, PELGER-HUET ANOMALY, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, PRIMARY PULMONARY HYPERTENSION, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, WRINKLY SKIN SYNDROME, IMMUNODEFICIENCY 33, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COFFIN-SIRIS SYNDROME 3, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, STRIATONIGRAL DEGENERATION, INFANTILE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, GAUCHER DISEASE, TYPE IIIC, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, CORTISONE REDUCTASE DEFICIENCY 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, MALFORMATION OF THE HEART, MALOUF SYNDROME, HARP SYNDROME, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, CARDIOMYOPATHY, HYPERTROPHIC, 3, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SEGAWA SYNDROME, RECESSIVE, PAROXYSMAL NONKINESIGENIC DYSKINESIA, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, CORTISONE REDUCTASE DEFICIENCY 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, IMMUNODEFICIENCY 36, LI-FRAUMENI SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETICULAR DYSGENESIS, DIHYDROPYRIMIDINURIA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, MENTAL RETARDATION, X-LINKED 30/47, MEDNIK SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, HYPEROXALURIA, PRIMARY, TYPE II, UROFACIAL SYNDROME 1, EVEN-PLUS SYNDROME, GALACTOSEMIA, RETINITIS PIGMENTOSA 37, DUCHENNE MUSCULAR DYSTROPHY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PARKINSON DISEASE 20, EARLY-ONSET, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, MODY, TYPE II, CRIGLER-NAJJAR SYNDROME, TYPE I, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, PICK DISEASE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, FRUCTOSE INTOLERANCE, RUBINSTEIN-TAYBI SYNDROME 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, NEPHROTIC SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, SPINOCEREBELLAR ATAXIA 1, PARAGANGLIOMAS 4, LACTASE PERSISTENCE/NONPERSISTENCE, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, CHIME SYNDROME, ?MUCOPOLYSACCHARIDOSIS TYPE IX, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, 46XY SEX REVERSAL 3, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, SMITH-LEMLI-OPITZ SYNDROME, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, ADRENAL CORTICAL CARCINOMA, MICROPHTHALMIA, ISOLATED 8, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, GLYCOGEN STORAGE DISEASE VII, PULMONARY HYPERTENSION, PRIMARY, 3, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, HYPOCHONDROPLASIA, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, COLOBOMA, OCULAR, SPINOCEREBELLAR ATAXIA 17, CORNELIA DE LANGE SYNDROME 2, BIOTINIDASE DEFICIENCY, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, KRABBE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 89, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, NESTOR-GUILLERMO PROGERIA SYNDROME, ?WAISMAN SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, EPILEPSY, PYRIDOXINE-DEPENDENT, ?N SYNDROME, [HISTIDINEMIA], LEPRECHAUNISM, BLOOM SYNDROME, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, HEMOLYTIC ANEMIA DUE TO G6PD DEFICIENCY, HYPERPROINSULINEMIA, MUCOPOLYSACCHARIDOSIS, MPS-III-A, POROKERATOSIS 1, MULTIPLE TYPES, ERYTHROCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, RESTRICTIVE DERMOPATHY, LETHAL, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LEUKODYSTROPHY, HYPOMYELINATING, 9, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, ANEMIA, SIDEROBLASTIC, 4, GABA-TRANSAMINASE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, HYPOPLASTIC LEFT HEART SYNDROME 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, POROKERATOSIS 7, MULTIPLE TYPES, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, HYPOBETALIPOPROTEINEMIA, COPROPORPHYRIA, HARDEROPORPHYRIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ?HYDROXYKYNURENINURIA, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, HEART-HAND SYNDROME, SLOVENIAN TYPE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ?MICROPHTHALMIA, SYNDROMIC 1, CHOROID PLEXUS PAPILLOMA, NEUROCUTANEOUS MELANOSIS, SOMATIC, METHYLMALONIC ACIDURIA, MUT(0) TYPE, GAUCHER DISEASE, TYPE III, ATRIAL FIBRILLATION, FAMILIAL, 6, CEROID LIPOFUSCINOSIS, NEURONAL, 11, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, XERODERMA PIGMENTOSUM, GROUP D, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SJOGREN-LARSSON SYNDROME, LEOPARD SYNDROME 1, ACROKERATOSIS VERRUCIFORMIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, GLYCOGEN STORAGE DISEASE IV, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, BETA-UREIDOPROPIONASE DEFICIENCY, CAMURATI-ENGELMANN DISEASE, ?ACAT2 DEFICIENCY, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, LATHOSTEROLOSIS, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, FAVISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, CK SYNDROME, AMISH INFANTILE EPILEPSY SYNDROME, GALACTOSE EPIMERASE DEFICIENCY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, DESBUQUOIS DYSPLASIA 2, COENZYME Q10 DEFICIENCY, PRIMARY, 6, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, CEROID LIPOFUSCINOSIS, NEURONAL, 1, PARKINSON DISEASE 1, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, EPIDERMAL NEVUS, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FECHTNER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, DEJERINE-SOTTAS DISEASE, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, CONGENITAL DIAPHRAGMATIC HERNIA, LEBER CONGENITAL AMAUROSIS 9, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, ATRANSFERRINEMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RETINITIS PIGMENTOSA 73, DEAFNESS, X-LINKED 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, METHYLMALONYL-COA EPIMERASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, COLE-CARPENTER SYNDROME 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, GAUCHER DISEASE, PERINATAL LETHAL, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, OROTIC ACIDURIA, HARTSFIELD SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEVALONIC ACIDURIA, CARDIOMYOPATHY, HYPERTROPHIC 6, HMG-COA LYASE DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), MENTAL RETARDATION, X-LINKED SYNDROMIC 5, DYSKERATOSIS CONGENITA, X-LINKED, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, OSTEOGENESIS IMPERFECTA, TYPE III, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HOLOPROSENCEPHALY-3, PEROXISOME BIOGENESIS DISORDER 2B, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, POLYCYTHEMIA VERA, SOMATIC, USHER SYNDROME TYPE 3B, GREENBERG SKELETAL DYSPLASIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, NEU-LAXOVA SYNDROME 1, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, ?THROMBOXANE SYNTHASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, FRONTOMETAPHYSEAL DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, CATARACT 13 WITH ADULT I PHENOTYPE, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FILS SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, CALCIFICATION OF JOINTS AND ARTERIES, AURICULOCONDYLAR SYNDROME 2, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SPINOCEREBELLAR ATAXIA 21, [BOMBAY PHENOTYPE], CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, OSSEOUS HETEROPLASIA, PROGRESSIVE, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, MENTAL RETARDATION, X-LINKED 19, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CATARACT 44, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, OSTEOGENESIS IMPERFECTA, TYPE I, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), GRISCELLI SYNDROME, TYPE 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, MILLER SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, VITAMIN D-DEPENDENT RICKETS, TYPE I, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, OCULOECTODERMAL SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, OSTEOGENESIS IMPERFECTA, TYPE II, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, COFFIN-SIRIS SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, VISCERAL MYOPATHY, D-GLYCERIC ACIDURIA, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, MUCOPOLYSACCHARIDOSIS TYPE IIID, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, [SARCOSINEMIA], MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, NIEMANN-PICK DISEASE, TYPE B, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], MAY-HEGGLIN ANOMALY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, JOUBERT SYNDROME 4, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, POLYGLUCOSAN BODY DISEASE, ADULT FORM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, TREACHER COLLINS SYNDROME 2, GLOMUVENOUS MALFORMATIONS, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, COENZYME Q10 DEFICIENCY, PRIMARY, 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, GALACTOKINASE DEFICIENCY WITH CATARACTS, PARKINSON DISEASE 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CANAVAN DISEASE, CYSTATHIONINURIA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, ?SPINOCEREBELLAR ATAXIA 26, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, KOSAKI OVERGROWTH SYNDROME, [BONE MINERAL DENSITY VARIABILITY 1], SENGERS SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, ?CATARACT 30, PULVERULENT, PHYTANIC ACID STORAGE DISEASE, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, MCARDLE DISEASE, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, ?SECKEL SYNDROME 8, SMITH-KINGSMORE SYNDROME, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CATEL-MANZKE SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, RETINITIS PIGMENTOSA 10, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS IS, HYPEROXALURIA, PRIMARY, TYPE 1, MYHRE SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, ?MICROPHTHALMIA, SYNDROMIC 13, HYPERPROLINEMIA, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, RETINITIS PIGMENTOSA 18, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, FEINGOLD SYNDROME, NEPHROTIC SYNDROME, TYPE 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), SPERMATOGENIC FAILURE 8, APERT SYNDROME, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, PANCREATIC LIPASE DEFICIENCY, EXOSTOSES, MULTIPLE, TYPE 2, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, GLUTATHIONE SYNTHETASE DEFICIENCY, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AROMATASE EXCESS SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, WOLFF-PARKINSON-WHITE SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, MENTAL RETARDATION, X-LINKED 72, THANATOPHORIC DYSPLASIA, TYPE II, HYPERPARATHYROIDISM 1, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, MULTIPLE SULFATASE DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, HYPOPHOSPHATASIA, CHILDHOOD, HEPATIC LIPASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, ADENYLOSUCCINASE DEFICIENCY, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, INFANTILE NEUROAXONAL DYSTROPHY 1, TOURETTE SYNDROME, {GILLES DE LA TOURETTE SYNDROME, SUSCEPTIBILITY TO}, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CONE-ROD DYSTROPHY 2, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, GLUCOCORTICOID RESISTANCE, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ZIMMERMANN-LABAND SYNDROME 2, BARAITSER-WINTER SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE IA, ATRIAL STANDSTILL 2, TRANSALDOLASE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, NONAKA MYOPATHY, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, TREACHER COLLINS SYNDROME 3, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, GILLESPIE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HUTCHINSON-GILFORD PROGERIA, LESCH-NYHAN SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, SUPRAVALVAR AORTIC STENOSIS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, AU-KLINE SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, BURN-MCKEOWN SYNDROME, {GLIOMA SUSCEPTIBILITY 9}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, NEU-LAXOVA SYNDROME 2, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, [PENTOSURIA], MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, {MACULAR DEGENERATION, AGE-RELATED, 2}, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, ONCOCYTOMA, GM1-GANGLIOSIDOSIS, TYPE III, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, JALILI SYNDROME, LEBER OPTIC ATROPHY AND DYSTONIA, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, MODY, TYPE I, GLIOMA SUSCEPTIBILITY 1, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, TATTON-BROWN-RAHMAN SYNDROME, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), ?SPASTIC PARAPLEGIA 63, LIEBENBERG SYNDROME, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, ENHANCED S-CONE SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PYRUVATE KINASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 8, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, NEUTROPENIA, CYCLIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, LOWE SYNDROME, ADAMS-OLIVER SYNDROME 3, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, ALKAPTONURIA, KERATOSIS, SEBORRHEIC, SOMATIC, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, LYNCH SYNDROME I, JACKSON-WEISS SYNDROME, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, DYSTONIA-12, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), HYPER-IGD SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), TUBEROUS SCLEROSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, WAARDENBURG SYNDROME, TYPE 3, PARIETAL FORAMINA 1, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, BJORNSTAD SYNDROME, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, FUMARASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, THROMBOCYTHEMIA 3, MENTAL RETARDATION, X-LINKED 41, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, HAILEY-HAILEY DISEASE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, CRIGLER-NAJJAR SYNDROME, TYPE II, GLYCINE ENCEPHALOPATHY, GLYCOGEN STORAGE DISEASE II, SENIOR-LOKEN SYNDROME-1, LEBER CONGENITAL AMAUROSIS 13, CARDIAC VALVULAR DYSPLASIA, X-LINKED, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, QUESTION MARK EARS, ISOLATED, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, PLATELET GLYCOPROTEIN IV DEFICIENCY, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, OPTIC NERVE HYPOPLASIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), CHONDROSARCOMA, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, XERODERMA PIGMENTOSUM, TYPE 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, ALCOHOL DEPENDENCE, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CALCIUM OXALATE UROLITHIASIS, TANGIER DISEASE, PERRAULT SYNDROME 5, CHILD SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, EXUDATIVE VITREORETINOPATHY 4, PULMONARY HYPERTENSION, PRIMARY, 2, DARIER DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, {PARKINSON DISEASE 18}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ENCEPHALOPATHY, NEONATAL SEVERE, INFANTILE MYOFIBROMATOSIS 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, BLEEDING DISORDER, PLATELET-TYPE, 17, ADERMATOGLYPHIA, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, FOCAL FACIAL DERMAL DYSPLASIA 4, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, GLAUCOMA 1, OPEN ANGLE, E, WAGNER SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, MUCOPOLYSACCHARIDOSIS II, GLYCOGEN STORAGE DISEASE X, MYOPATHY DUE TO CPT II DEFICIENCY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, WILSON-TURNER SYNDROME, ISOVALERIC ACIDEMIA, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, CPT II DEFICIENCY, LETHAL NEONATAL, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, MISMATCH REPAIR CANCER SYNDROME, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, GLUCOCORTICOID DEFICIENCY 4, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, THROMBOCYTOPENIA 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, [ACETYLATION, SLOW], ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, CARDIOMYOPATHY, HYPERTROPHIC, 7, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, MENTAL RETARDATION, X-LINKED 90, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, MUENKE SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, BREAST-OVARIAN CANCER, FAMILIAL 1, HAWKINSINURIA, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, MUCOPOLYSACCHARIDOSIS IH/S, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ASPARAGINE SYNTHETASE DEFICIENCY, MYOGLOBINURIA, RECURRENT, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, COFFIN-LOWRY SYNDROME, CODAS SYNDROME, ?GLYCOGEN STORAGE DISEASE XIII, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, MUCOPOLYSACCHARIDOSIS IVA, DENT DISEASE 2, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY, ?HEMOCHROMATOSIS, TYPE 5

869

CALM1, LSS, UROD, RPL5, LRPAP1, HBB, PITX1, GLMN, LMNA, GPT2, ACADS, DNM2, LBR, GNAS, ACAT2, ATP6V1B1, GUSB, ENPP1, POLD1, GSS, B3GAT3, HDC, ALG3, PCYT1A, NSDHL, LCT, GLYCTK, GALK1, PGR, RANBP2, PEX13, FH, H6PD, AGK, G6PC, AR, ARSE, GFI1B, HARS, SBF1, HPSE2, CYP2C19, PIGM, GNE, HGD, LIPT1, EIF4G1, WWOX, PMS2, HYAL1, UPB1, PHKB, FGFR3, KL, ISG15, ENO3, NDUFA1, IDS, ALDH7A1, PAXIP1, ASNS, MTOR, ASAH1, MT-ND6, HMGA1, MGAT2, ALG11, PGM1, ALAD, ASS1, MRE11A, AIFM1, STT3A, DNA2, CCND1, TALDO1, JAK2, GNS, EFTUD2, SUCLA2, AP1S2, MAT1A, SGSH, GALNT3, HSPD1, TECR, NOL3, PRPF3, EZH2, ATP6V1B2, GAD1, TNNT2, ALAS2, CYP21A2, HTR2A, NAGS, NAT8L, KMT2A, CYB5R3, NDUFA10, GAMT, ALDH3A2, PMM2, MT-CO1, POLR2F, SLC35A2, MAN1B1, BANF1, ALDOA, AGL, CTNNB1, PMVK, TAT, SUFU, NDUFA12, SETD2, SMAD4, PIGY, NCF4, RPIA, RAD51, AK2, SLC34A1, TNFSF11, LEP, PYCR1, ALDH2, NARS2, VMA21, GLDC, PPP2R1A, DBH, NDUFA2, SSR4, AKT1, SLC9A1, INPPL1, PAPSS2, UBA1, DLAT, PRKCD, TANGO2, NPHS1, ABCB7, COX15, AGPS, HGF, KARS, CNGB1, CDH1, B4GAT1, IL1B, DHODH, SI, HSPA9, ALOX12B, PPP2R1B, ECHS1, POMC, CYP2U1, MTM1, ADK, POLA1, HMBS, MT-ND4, SPTLC2, NDST1, MLF1, HINT1, HNRNPK, EIF2B3, GRHPR, UBE2A, LHCGR, NPHP1, PIGL, PLA2G5, CXCR4, GMPPA, HPD, RARS, PLCB1, MT-CO2, PLCE1, PTPN11, HMGB3, PCCA, ALG1, BRAF, DCXR, TUBGCP4, PAK3, GATA4, GPX4, RAB7A, CALR, AMT, MEF2A, AKR1D1, GHRL, EGFR, DGAT1, TF, POLR3B, RDH11, FBP1, ALB, SDHB, GCH1, DMPK, SURF1, MMAB, GPI, PEX14, MLYCD, APOB, COQ9, QARS, MYC, NAA10, PGAM2, AGRN, DDC, PGK1, MOCS2, PKLR, DGUOK, GBA2, ALPL, ST3GAL3, GFAP, COX6A1, CCT5, WNK1, HARS2, ACAN, CTPS1, BMP2, MCCC2, REN, IDUA, BAAT, NDUFS4, HADH, ASPM, NDUFB11, DYSF, PGAP1, DES, MT-CO3, BCKDHB, TPK1, AKR1C4, GAL, CYP11B1, CDC73, POR, DLD, ERBB2, INPP5E, CAPN3, HSD11B1, MVD, NR2E3, UQCRB, GNAI2, MAOA, RYR2, ATN1, IVD, SOX9, PCCB, RRM2B, TNNT3, SCP2, MMP2, ALDOB, SLC26A4, NPPA, DRD3, PSPH, XPA, DPAGT1, CLIC5, HBA1, IL12B, NOTCH1, IDH2, GCNT2, CYP3A5, PIGT, CBS, CORO1A, AMACR, EGR2, PRODH, CFL2, VCAN, SP110, MSX2, EHHADH, ESR1, GK, EARS2, PTH, PAX7, FUT2, JUP, LRP5, NRAS, LIPC, ERLIN2, TCIRG1, KDR, PRKG1, TAZ, FANCA, XDH, FGF23, STAT3, HMGCS2, ADD1, SLC26A3, BCO1, NDUFS3, DMD, PIGR, CD81, NCF1, NT5C3A, DPH1, TSG101, NDUFB3, MT-ATP6, IGF1, KRT5, SMAD9, CD36, CYP27B1, SC5D, TXNL4A, GMPPB, EEF2, AASS, B4GALNT1, TGDS, HMGCL, GLUL, SMC1A, DMGDH, GBE1, SLC5A7, VDR, FGFR1, NAGLU, ATXN1, ETFA, LIPA, ITPA, CYCS, CLIC2, ACTN2, SNTA1, PDSS2, AMPD3, SNCA, SLCO1B1, DHCR24, HK1, NT5C2, COQ4, GCLC, NME8, GALE, MT-ND3, SCYL1, COX7B, NDUFV1, OTC, RAF1, BARD1, IRF5, DLG3, KRT8, PTS, PDHX, PAX3, ACTG1, ATP2A2, JAGN1, CYP19A1, PRKCSH, XYLT1, P4HB, TYMP, CYP1B1, DDX58, MTR, SPTLC1, MUT, PLG, CERS3, LDLR, NDUFB9, DNMT1, FCGR2B, ACTN4, AMPD1, PIK3R1, PHB, SHMT1, DCN, B4GALT1, CYP17A1, PCNA, NEFL, POLR1C, TUFM, HSD3B2, NAT2, ASPA, ADA, SMAD3, ALDH18A1, HSPG2, TNF, EXT2, NDUFS2, ODC1, SERPINE1, SKIV2L, ATIC, PEX5, MPDZ, ARL6IP1, F2, TNFRSF1A, TNNI3, PAFAH1B1, UGT1A1, STT3B, ADSL, SDHC, TPM1, CYP27A1, IKBKG, HEXB, PLCD1, MUC1, CYP11B2, CAV1, CTH, AGT, VPS53, MOGS, CDK5, TRAPPC2, KDM1A, BTD, PCK2, SMN2, MCM6, PIGC, SDHA, DPYS, SIM1, COL1A1, FANCM, PIK3CA, GALT, UGT1A4, ST3GAL5, SIL1, HADHA, COX8A, POT1, CYP26C1, PRKAG2, GFPT1, GATA3, RBPJ, CTSD, NUBPL, SMARCA4, UROC1, CASP8, NDUFS7, IGF2, GRN, NOS3, NR1I3, MAPT, CAD, AK1, ALDH6A1, THPO, MET, HEXA, ACTN1, ABAT, NNT, MSMO1, TK2, ABCA1, ARG1, HGSNAT, CEL, CNNM4, HSD17B3, SDC3, IMPAD1, MCPH1, CD44, DSE, FOXO1, MYH6, DPYD, UQCRQ, PTPN1, IFNG, ALG6, POLR1D, COX14, RPS6KA3, DKC1, ERCC8, VCP, HAO1, INS, PAM16, TYRP1, MYO5A, TPO, COMT, ACO2, GDI1, PFKM, TYR, DAO, ACAT1, SMPD1, RPS14, HSD17B10, PTDSS1, EXT1, G6PC3, PITX3, CPT1C, B4GALT7, TGFB1, VHL, HNF4A, RDX, FKBP14, PPOX, ITGB2, NR3C1, FN1, POLR3A, SMS, MT-CYB, ATP5A1, ALDH1A3, PHGDH, FECH, RPS10, DBT, ACY1, MCCC1, TRPM7, NDUFA9, ACADSB, NONO, ADH1B, SLC9A3R1, POLG2, ALDH5A1, ADAMTS10, STAT2, COX10, RDH12, GPD1, FAH, LIAS, ATXN2, FTH1, SUCLG1, MCEE, SMARCB1, MTHFR, HDAC8, MYH7, NOS2, DHCR7, TLR4, IL4R, EIF2B1, PNKD, SYNJ1, PANK2, TBP, MYH9, TAF6, PDGFRA, SARDH, POLE, GATM, SLC33A1, PNPLA2, DNMT3A, PPT1, GBA, ABCA4, NUP62, PIP5K1C, TRH, APP, MT-ND4L, MOCS1, HRAS, KHK, POLG, MTAP, NDUFS6, CD27, AGPAT2, SPTAN1, ALDH4A1, PEX7, TINF2, TMEM199, DHFR, ALG13, CASK, PNLIP, SMARCAD1, NDUFS8, HLCS, PIGV, NFKB1, POLR1A, PRPF8, CAV3, APRT, PRPH, ACOX1, NDUFA11, NT5E, ERCC1, COQ7, GATA5, EBP, ITGB3, MLH1, ALG10, IRF7, PPARG, G6PD, CERS1, OAT, OTX2, HIBCH, GALNS, EIF2B2, HPRT1, BTK, OCRL, PRPS1, COX6B1, PNPO, CLASP1, VIM, SCO2, NEU1, ALG2, DLC1, DARS, HAL, ERCC2, PDGFRB, XYLT2, CD40, AUH, ARHGDIA, FUT1, BLM, MT-ND2, DNMT3B, IMPDH1, IRS1, CYP2R1, SELP, SMARCA2, HAX1, SDHD, APOA2, TAF1, PIGO, KRAS, TP53, SLC25A32, PAX6, PLA2G7, GLUD2, IDH1, ZHX2, CPOX, LMNB1, IL6, LRP1, ACACA, LPIN1, RYR1, LTC4S, UMPS, COQ6, CRX, LHX3, AGXT, HELLS, CPT1A, BCKDHA, LONP1, MRPL44, UCHL1, NR0B1, ATP2C1, HTT, LDHA, FANCC, TUBG1, EP300, NR5A1, EPHX2, AP1S1, ATP6V0A2, GCDH, CLPB, EIF2B5, PCBD1, ACADVL, CYP24A1, CTDP1, GLUD1, BPGM, ALOX5, PCK1, BMPR2, TUBA8, LARS, EDN1, PLA2G6, RAB39B, GJA1, DPM2, FTCD, PIGW, AHSG, BCS1L, SPR, VWF, IRS2, MECP2, MVK, TGFB2, CYP2A6, GCK, PYGM, DPM1, TSC2, PYCR2, PMPCA, UROS, ELANE, HADHB, NDUFS1, MRPL3, BRCA1, IGF1R, UQCRC2, CPT2, SEC63, FASLG, ATP1A3, KYNU, AXIN1, PLAU, CYP2C9, COASY, CHSY1, CCL2, PSAT1, ARSB, GCSH, OGDH, B3GALT6, ACADM, TH, ADH1C, DDOST, TPI1, GAA, LYRM4, PAH, NMNAT1, SUMF1, CYC1, LCK, NME1, FLNA, MSH2, NR0B2, NGF, COQ2, HCCS, MPI, ATR, HSD17B4, ASL, HPCA, PDHA1, PYGL, ATM, GLB1, QDPR, ETFB, STX1B, AHCY, PTGIS, FXN, INSR, GALC, PLA2G2A, TUSC3, SELE, NDUFV2, CPS1, FGFR2, PLCG2, C10orf2, CDKN1B, GNPAT, MYCN, COX4I2, MT-ND5, ELOVL5, GPC3, PEX19, GALNT14, PNP, DGKE, TBXAS1, DOLK, AMPD2, ACSL4, PIGA, GNRH1, RUNX2, COL4A3BP, MYH11, MT-ND1, MTHFD1, NHP2, CHKB, PLCB4, HSD3B7, PC, PIGN, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
MetabolismYesN9.14561e-210.981453

ATROPHODERMA VERMICULATUM, ?DEAFNESS, AUTOSOMAL RECESSIVE 103, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, ACHONDROPLASIA, {THIOPURINES, POOR METABOLISM OF, 1}, LEUKOTRIENE C4 SYNTHASE DEFICIENCY, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?IMMUNODEFICIENCY 39, CEROID LIPOFUSCINOSIS NEURONAL 6, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, SICKLE CELL ANEMIA, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, EXOSTOSES, MULTIPLE, TYPE 1, CATEL-MANZKE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, COFFIN-LOWRY SYNDROME, CORNEA PLANA CONGENITA, RECESSIVE, PEPCK DEFICIENCY, MITOCHONDRIAL, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, INCONTINENTIA PIGMENTI, HYPERPROINSULINEMIA, HAJDU-CHENEY SYNDROME, SPINOCEREBELLAR ATAXIA 15, HYPERCHLORHIDROSIS, ISOLATED, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, EHLERS-DANLOS SYNDROME, TYPE 3, CK SYNDROME, ATRIAL SEPTAL DEFECT 9, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, FLOATING-HARBOR SYNDROME, BURKITT LYMPHOMA, PRADER-WILLI SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, NEUROFIBROMATOSIS, TYPE 1, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, KAHRIZI SYNDROME, LUSCAN-LUMISH SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ALPHA-METHYLACETOACETIC ACIDURIA, GHOSAL HEMATODIAPHYSEAL SYNDROME, HYPER-IGD SYNDROME, HYPOSPADIAS 1, X-LINKED, CLOVE SYNDROME, SOMATIC, UV-SENSITIVE SYNDROME 2, MUCOPOLYSACCHARIDOSIS VII, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, XANTHINURIA, TYPE I, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, MENTAL RETARDATION, X-LINKED 63, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, CORNELIA DE LANGE SYNDROME 5, HEMOCHROMATOSIS TYPE 1, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, MECONIUM ILEUS, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, LEBER CONGENITAL AMAUROSIS 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HMG-COA SYNTHASE-2 DEFICIENCY, PONTOCEREBELLAR HYPOPLASIA TYPE 2D, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CPT DEFICIENCY, HEPATIC, TYPE II, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, ?CARDIOMYOPATHY, DILATED, 2A, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, NOONAN SYNDROME 7, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, 46,XX SEX REVERSAL, TYPE 2, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ?DIARRHEA 7, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, BARTH SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, ?SECKEL SYNDROME 6, DONNAI-BARROW SYNDROME, COMBINED FACTOR V AND VIII DEFICIENCY, NEUROFIBROMATOSIS-NOONAN SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, FARBER LIPOGRANULOMATOSIS, OVALOCYTOSIS, SA TYPE, KABUKI SYNDROME 2, PROPIONICACIDEMIA, RETINITIS PIGMENTOSA 17, ALPHA-2-MACROGLOBULIN DEFICIENCY, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, PERIODIC FEVER, FAMILIAL, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, CUTIS LAXA, AUTOSOMAL DOMINANT 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, SOTOS SYNDROME 1, CONE-ROD DYSTROPHY 14, CONE DYSTROPHY-3, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, GALACTOKINASE DEFICIENCY WITH CATARACTS, {MELANOMA, CUTANEOUS MALIGNANT, 3}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ACETYL-COA CARBOXYLASE DEFICIENCY, HARP SYNDROME, SEGAWA SYNDROME, RECESSIVE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, IMMUNODEFICIENCY 36, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, FANCONI ANEMIA, COMPLEMENTATION GROUP C, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, [HISTIDINEMIA], ?INFANTILE LIVER FAILURE SYNDROME 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, CRIGLER-NAJJAR SYNDROME, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, STARGARDT DISEASE 3, OROFACIAL CLEFT 11, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, OHDO SYNDROME, X-LINKED, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 89, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?WAISMAN SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, ?N SYNDROME, SPINOCEREBELLAR ATAXIA 38, POROKERATOSIS 1, MULTIPLE TYPES, PENDRED'S SYNDROME, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, LESCH-NYHAN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ?MICROPHTHALMIA, SYNDROMIC 1, PARIETAL FORAMINA 1, ISOVALERIC ACIDEMIA, SJOGREN-LARSSON SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, SPHEROCYTOSIS, TYPE 4, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, DIARRHEA 6, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), CEROID LIPOFUSCINOSIS, NEURONAL, 1, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, GLYCINE N-METHYLTRANSFERASE DEFICIENCY, BETA-UREIDOPROPIONASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, FUCOSIDOSIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, CARDIOMYOPATHY, HYPERTROPHIC, 3, OROTIC ACIDURIA, HARTSFIELD SYNDROME, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, OSTEOGENESIS IMPERFECTA, TYPE III, CEREBROOCULOFACIOSKELETAL SYNDROME 3, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, GREENBERG SKELETAL DYSPLASIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, VAN DER WOUDE SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, [BOMBAY PHENOTYPE], CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, OSSEOUS HETEROPLASIA, PROGRESSIVE, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, COLE-CARPENTER SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, USHER SYNDROME, TYPE 1F, IMMUNODEFICIENCY 14, METHYLMALONIC ACIDURIA CBLB TYPE, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SMALL CELL CANCER OF THE LUNG, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, USHER SYNDROME, TYPE 1D/F DIGENIC, USHER SYNDROME, TYPE 1D, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, POLYGLUCOSAN BODY DISEASE, ADULT FORM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ?ATRIAL FIBRILLATION 15, COPROPORPHYRIA, HARDEROPORPHYRIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, KOSAKI OVERGROWTH SYNDROME, OPITZ-KAVEGGIA SYNDROME, SENGERS SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 1, DEAFNESS, X-LINKED 1, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, MYHRE SYNDROME, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, HYPERPROLINEMIA, TYPE I, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, RETINITIS PIGMENTOSA 18, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, RUBINSTEIN-TAYBI SYNDROME 2, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 3, CONE-ROD DYSTROPHY 6, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, WOLFF-PARKINSON-WHITE SYNDROME, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, LEBER CONGENITAL AMAUROSIS 14, RETINITIS PIGMENTOSA, JUVENILE, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, HEPATIC LIPASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO G6PD DEFICIENCY, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, TOURETTE SYNDROME, {GILLES DE LA TOURETTE SYNDROME, SUSCEPTIBILITY TO}, CONE-ROD DYSTROPHY 2, GLUCOCORTICOID RESISTANCE, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRANSALDOLASE DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, GILLESPIE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, ONCOCYTOMA, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, HUNTINGTON DISEASE, MODY, TYPE I, TATTON-BROWN-RAHMAN SYNDROME, [GLYOXALASE II DEFICIENCY], OCULODENTODIGITAL DYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, COENZYME Q10 DEFICIENCY, PRIMARY, 2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, MUCOPOLYSACCHARIDOSIS II, NEPHROTIC SYNDROME, TYPE 8, DYSTONIA-12, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BJORNSTAD SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, FUMARASE DEFICIENCY, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, MENTAL RETARDATION, X-LINKED 41, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, [SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES], [SKIN/HAIR/EYE PIGMENTATION 1, BLOND/BROWN HAIR], PLATELET GLYCOPROTEIN IV DEFICIENCY, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, CATARACT 13 WITH ADULT I PHENOTYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, {PARKINSON DISEASE 18}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, GALACTOSEMIA, FOCAL FACIAL DERMAL DYSPLASIA 4, ANDROGEN INSENSITIVITY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, NEU-LAXOVA SYNDROME 1, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, GM1-GANGLIOSIDOSIS, TYPE II, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GAUCHER DISEASE, TYPE II, LYMPHOPROLIFERATIVE SYNDROME 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, HAMAMY SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, IMMUNODEFICIENCY 46, MYOGLOBINURIA, RECURRENT, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, DENT DISEASE 2, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY, PREMATURE OVARIAN FAILURE 7, SUPRANUCLEAR PALSY, PROGRESSIVE, RETINITIS PIGMENTOSA-40, LONG QT SYNDROME 12, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, LONG QT SYNDROME 15, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 38, GLUTARICACIDURIA, TYPE I, HPRT-RELATED GOUT, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, GAUCHER DISEASE, TYPE IIIC, NEUROFIBROMATOSIS, FAMILIAL SPINAL, LEUKODYSTROPHY, HYPOMYELINATING, 11, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, ICHTHYOSIS, X-LINKED, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, [BILIRUBIN, SERUM LEVEL OF, QTL1], CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, RETINITIS PIGMENTOSA 10, ?OPTIC ATROPHY 9, NAXOS DISEASE, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, LYSYL HYDROXYLASE 3 DEFICIENCY, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, PARAGANGLIOMAS 3, INFANTILE NEUROAXONAL DYSTROPHY 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, RETINITIS PIGMENTOSA 59, CREATINE PHOSPHOKINASE, ELEVATED SERUM, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, MIRROR MOVEMENTS 2, GLYCOGEN STORAGE DISEASE IA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, WIEDEMANN-STEINER SYNDROME, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, ?EPILEPSY, FAMILIAL TEMPORAL LOBE, 8, VENTRICULAR TACHYCARDIA, IDIOPATHIC, HYPERPROLINEMIA, TYPE II, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, LEBER CONGENITAL AMAUROSIS 2, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, CHERUBISM, ASPARTYLGLUCOSAMINURIA, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, DESBUQUOIS DYSPLASIA 1, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, KANZAKI DISEASE, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, EHLERS-DANLOS SYNDROME, TYPE VI, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, AGAMMAGLOBULINEMIA 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), {AUTISM SUSCEPTIBILITY, X-LINKED 3}, 2-METHYLBUTYRYLGLYCINURIA, IMMUNODEFICIENCY 24, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, TYROSINEMIA, TYPE II, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 4, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, TREACHER COLLINS SYNDROME 2, CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3, SPINOCEREBELLAR ATAXIA 14, D-BIFUNCTIONAL PROTEIN DEFICIENCY, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, CEREBROOCULOFACIOSKELETAL SYNDROME 4, LISSENCEPHALY 5, LEOPARD SYNDROME 3, CARCINOID TUMORS, INTESTINAL, ARGININOSUCCINIC ACIDURIA, PSEUDOHYPOPARATHYROIDISM IC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PULMONARY HYPERTENSION, PRIMARY, 2, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, CEREBROTENDINOUS XANTHOMATOSIS, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, {PANIC DISORDER, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, 1NN, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, CRANIOSYNOSTOSIS, TYPE 2, SEBASTIAN SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, CORTISONE REDUCTASE DEFICIENCY 1, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, MALFORMATION OF THE HEART, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, CORTISONE REDUCTASE DEFICIENCY 2, LI-FRAUMENI SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, RETICULAR DYSGENESIS, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, MEDNIK SYNDROME, RETINITIS PIGMENTOSA 37, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, FRUCTOSE INTOLERANCE, SPINOCEREBELLAR ATAXIA 21, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, GLYCOGEN STORAGE DISEASE VII, ?IMMUNODEFICIENCY 22, COLOBOMA, OCULAR, APPARENT MINERALOCORTICOID EXCESS, KRABBE DISEASE, MENTAL RETARDATION, X-LINKED 19, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BLOOM SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ASPARAGINE SYNTHETASE DEFICIENCY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LEUKODYSTROPHY, HYPOMYELINATING, 9, ADAMS-OLIVER SYNDROME 4, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, {OROFACIAL CLEFT 6}, ?PARKINSONISM WITH SPASTICITY, X-LINKED, MACROCEPHALY/AUTISM SYNDROME, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, GLYCOGEN STORAGE DISEASE 0, MUSCLE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CEROID LIPOFUSCINOSIS, NEURONAL, 11, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, CARDIOMYOPATHY, DILATED, 1U, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, CEROID LIPOFUSCINOSIS, NEURONAL, 10, BASAL CELL NEVUS SYNDROME, ?ACAT2 DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, MACULAR DYSTROPHY, PATTERNED, 2, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CONGENITAL DIAPHRAGMATIC HERNIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, ALZHEIMER DISEASE, TYPE 4, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, METHYLMALONYL-COA EPIMERASE DEFICIENCY, IMMUNODEFICIENCY 43, PCWH SYNDROME, GLUTAMINE DEFICIENCY, CONGENITAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, HMG-COA LYASE DEFICIENCY, NORUM DISEASE, ESSENTIAL HYPERTENSION, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, PARKINSON DISEASE 1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FANCONI RENOTUBULAR SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CATARACT 44, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, ?DYSTONIA, JUVENILE-ONSET, VISCERAL MYOPATHY, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MARINESCO-SJOGREN SYNDROME, JOUBERT SYNDROME 4, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, RENAL TUBULAR ACIDOSIS, DISTAL, AD, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CYSTATHIONINURIA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, MAY-HEGGLIN ANOMALY, ?SECKEL SYNDROME 8, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS IS, ?MICROPHTHALMIA, SYNDROMIC 13, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, SPINOCEREBELLAR ATAXIA 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, NEPHROTIC SYNDROME, TYPE 3, PARAGANGLIOMAS 4, APERT SYNDROME, PANCREATIC LIPASE DEFICIENCY, EXOSTOSES, MULTIPLE, TYPE 2, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, GLUTATHIONE SYNTHETASE DEFICIENCY, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, ADENYLOSUCCINASE DEFICIENCY, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, [SARCOSINEMIA], INTERSTITIAL LUNG AND LIVER DISEASE, ZIMMERMANN-LABAND SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE IA, DIAMOND-BLACKFAN ANEMIA 3, HUTCHINSON-GILFORD PROGERIA, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AURICULOCONDYLAR SYNDROME 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, GLYCOGEN STORAGE DISEASE XII, PETERS-PLUS SYNDROME, CALCIFICATION OF JOINTS AND ARTERIES, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, GLUCOCORTICOID DEFICIENCY 4, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEBER OPTIC ATROPHY AND DYSTONIA, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 8, BRUCK SYNDROME 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MULTIPLE ENDOCRINE NEOPLASIA 1, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, ACHROMATOPSIA 6, RETINAL CONE DYSTROPHY 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WEAVER SYNDROME, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, THROMBOCYTHEMIA 3, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, GLYCINE ENCEPHALOPATHY, IMMUNODEFICIENCY 33, OTOPALATODIGITAL SYNDROME, TYPE I, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CORNELIA DE LANGE SYNDROME 3, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, EXUDATIVE VITREORETINOPATHY 4, METACHROMATIC LEUKODYSTROPHY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, INFANTILE MYOFIBROMATOSIS 1, CODAS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, DIABETES INSIPIDUS, NEPHROGENIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, [ACETYLATION, SLOW], MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, KABUKI SYNDROME 1, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, CARDIOMYOPATHY, HYPERTROPHIC, 7, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), MANNOSIDOSIS, ALPHA-, TYPES I AND II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, RETINITIS PIGMENTOSA, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, X-LINKED, ?PROGESTERONE RESISTANCE, ?UROCANASE DEFICIENCY, MANDIBULOACRAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, RENAL TUBULAR DYSGENESIS, VAN BUCHEM DISEASE, TYPE 2, COMBINED HYPERLIPIDEMIA, FAMILIAL, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MEND SYNDROME, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, DOWLING-DEGOS DISEASE 1, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LEBER OPTIC ATROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, HYPERBILIVERDINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, CITRULLINEMIA, {AUTISM, SUSCEPTIBILITY TO, X-LINKED 6}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 4C, AROMATASE EXCESS SYNDROME, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, PELGER-HUET ANOMALY, KLEEFSTRA SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, RETINITIS PIGMENTOSA 13, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ATRIAL SEPTAL DEFECT 2, BRACHYDACTYLY, TYPE A2, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, CARPAL TUNNEL SYNDROME, FAMILIAL, [BONE MINERAL DENSITY VARIABILITY 1], HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, POROKERATOSIS 3, MULTIPLE TYPES, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, [GILBERT SYNDROME], MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, MYASTHENIC SYNDROME, CONGENITAL, 16, CORNELIA DE LANGE SYNDROME 1, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, HYPERLYSINEMIA, LIPOPROTEIN LIPASE DEFICIENCY, RETINITIS PIGMENTOSA 20, MENTAL RETARDATION, X-LINKED 72, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, DEAFNESS, X-LINKED 5, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT, METACHONDROMATOSIS, SACCHAROPINURIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, MCARDLE DISEASE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, CROUZON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, UROFACIAL SYNDROME 1, ANEMIA, SIDEROBLASTIC, 1, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2, HETEROTOPIA, PERIVENTRICULAR, COLE DISEASE, MUCOPOLYSACCHARIDOSIS IVA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, DIHYDROPYRIMIDINURIA, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, GLYCOGEN STORAGE DISEASE VI, PERRAULT SYNDROME 1, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, MYOTONIC DYSTROPHY 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, [AMP DEAMINASE DEFICIENCY, ERYTHROCYTIC], ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, AMINOACYLASE 1 DEFICIENCY, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, ALBINISM, OCULOCUTANEOUS, TYPE III, ?REYNOLDS SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NEU-LAXOVA SYNDROME 2, MYXOMA, INTRACARDIAC, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, TYROSINEMIA, TYPE III, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, ?PERRAULT SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, THYROID DYSHORMONOGENESIS 2A, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, CARDIOMYOPATHY, HYPERTROPHIC, 12, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, PRIMARY PULMONARY HYPERTENSION, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, WRINKLY SKIN SYNDROME, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, COFFIN-SIRIS SYNDROME 3, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, RHEUMATOID ARTHRITIS, STRIATONIGRAL DEGENERATION, INFANTILE, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, EPIDERMAL NEVUS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, PAROXYSMAL NONKINESIGENIC DYSKINESIA, GAUCHER DISEASE, TYPE I, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NON-IMMUNE HYDROPS FETALIS, EVEN-PLUS SYNDROME, MODY, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, RETINITIS PIGMENTOSA 57, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 23, ADRENAL CORTICAL CARCINOMA, MICROPHTHALMIA, ISOLATED 8, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, HYPOCHONDROPLASIA, SPINOCEREBELLAR ATAXIA 17, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, ?PRUNE BELLY SYNDROME, CORNEAL FLECK DYSTROPHY, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, CEREBELLOFACIODENTAL SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?SPINOCEREBELLAR ATAXIA 34, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ATRIAL FIBRILLATION, FAMILIAL, 6, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, XERODERMA PIGMENTOSUM, GROUP D, BARDET-BIEDL SYNDROME 10, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, AMISH INFANTILE EPILEPSY SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, COENZYME Q10 DEFICIENCY, PRIMARY, 6, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, FECHTNER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, LEBER CONGENITAL AMAUROSIS 9, ATRANSFERRINEMIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, RETINITIS PIGMENTOSA 73, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, MEVALONIC ACIDURIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MOYAMOYA 6 WITH ACHALASIA, ATRIAL STANDSTILL 2, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, FOVEAL HYPOPLASIA 1, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 9, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, AURICULOCONDYLAR SYNDROME 2, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, OSTEOGENESIS IMPERFECTA, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, POLYCYTHEMIA VERA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BURN-MCKEOWN SYNDROME, OCULOECTODERMAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, GLYCOGEN STORAGE DISEASE 0, LIVER, ALCOHOL DEPENDENCE, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, ATELEIOTIC DWARFISM, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], DEAFNESS, AUTOSOMAL RECESSIVE 70, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, GLOMUVENOUS MALFORMATIONS, ALAGILLE SYNDROME 2, PLASMA FIBRONECTIN DEFICIENCY, PARKINSON DISEASE 4, GALACTOSE EPIMERASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CPT DEFICIENCY, HEPATIC, TYPE IA, PHYTANIC ACID STORAGE DISEASE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MUIR-TORRE SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ATRIOVENTRICULAR SEPTAL DEFECT 5, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), SPERMATOGENIC FAILURE 8, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, AGAMMAGLOBULINEMIA, X-LINKED 1, SUPRAVALVAR AORTIC STENOSIS, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, ACNE INVERSA, FAMILIAL, 3, {GLIOMA SUSCEPTIBILITY 9}, [PENTOSURIA], TRIGONOCEPHALY 1, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, JALILI SYNDROME, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, THYROID HORMONE RESISTANCE, DESMOSTEROLOSIS, ?JOUBERT SYNDROME 22, FEINGOLD SYNDROME, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, ENHANCED S-CONE SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, COWCHOCK SYNDROME, ALKAPTONURIA, KERATOSIS, SEBORRHEIC, SOMATIC, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), MACULAR CORNEAL DYSTROPHY, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, GM1-GANGLIOSIDOSIS, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE II, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, QUESTION MARK EARS, ISOLATED, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, L-2-HYDROXYGLUTARIC ACIDURIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, CHONDROSARCOMA, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, GAUCHER DISEASE, TYPE III, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MYOFIBROMATOSIS, INFANTILE 2, PERRAULT SYNDROME 5, CHILD SYNDROME, DARIER DISEASE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, [CHITOTRIOSIDASE DEFICIENCY], BLEEDING DISORDER, PLATELET-TYPE, 17, ADERMATOGLYPHIA, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, GLAUCOMA 1, OPEN ANGLE, E, WAGNER SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, GLYCOGEN STORAGE DISEASE X, WILSON-TURNER SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, ?SPASTIC PARAPLEGIA 63, ALEXANDER DISEASE, SULFITE OXIDASE DEFICIENCY, TREACHER COLLINS SYNDROME 3, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), CILIARY DYSKINESIA, PRIMARY, 6, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MENTAL RETARDATION, X-LINKED 90, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, CONE DYSTROPHY 4, HAWKINSINURIA, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, DOWLING-DEGOS DISEASE 4, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?GLYCOGEN STORAGE DISEASE XIII, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, NONAKA MYOPATHY, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C, OTOPALATODIGITAL SYNDROME, TYPE II, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, CARDIOMYOPATHY, HYPERTROPHIC, 2, PULMONARY VENOOCCLUSIVE DISEASE 1, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, MYOPIA 6, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, MIYOSHI MUSCULAR DYSTROPHY 1, MOLYBDENUM COFACTOR DEFICIENCY A, FRONTOTEMPORAL DEMENTIA, POROKERATOSIS 7, MULTIPLE TYPES, BOUCHER-NEUHAUSER SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, OGDEN SYNDROME, NEUTROPENIA, CYCLIC, ATAXIA-TELANGIECTASIA-LIKE DISORDER, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, BECKWITH-WIEDEMANN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, SECKEL SYNDROME 1, LIPOYLTRANSFERASE 1 DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, AORTIC ANEURYSM, FAMILIAL THORACIC 8, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, SYNDACTYLY, TYPE III, IMMUNODEFICIENCY 44, BRUNNER SYNDROME, FAMILIAL COLORECTAL CANCER, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, EPILEPSY, PYRIDOXINE-DEPENDENT, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ?RETINAL DYSTROPHY AND OBESITY, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], CATARACT 38, AUTOSOMAL RECESSIVE, ARTS SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LIANG DISTAL MYOPATHY, ?N-ACETYLASPARTATE DEFICIENCY, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, KERATITIS, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, RETINITIS PIGMENTOSA 45, TRIMETHYLAMINURIA, GLAUCOMA 1A, PRIMARY OPEN ANGLE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CARDIOMYOPATHY, DILATED, 1A, TYROSINEMIA, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, GABA-TRANSAMINASE DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DOWLING-DEGOS DISEASE 2, COENZYME Q10 DEFICIENCY, PRIMARY, 3, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, DYSTONIA-PARKINSONISM, X-LINKED, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, DEAFNESS, AUTOSOMAL RECESSIVE 39, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, PICK DISEASE, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ANEMIA, SIDEROBLASTIC, 4, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, CAFFEY DISEASE, AMYOTROPHIC LATERAL SCLEROSIS 19, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, PARKINSON DISEASE 20, EARLY-ONSET, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, LONG QT SYNDROME 14, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, OPSISMODYSPLASIA, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE II, LACTASE DEFICIENCY, CONGENITAL, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2, CLEFT PALATE, ISOLATED, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, LACTASE PERSISTENCE/NONPERSISTENCE, ?MUCOPOLYSACCHARIDOSIS TYPE IX, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, DESBUQUOIS DYSPLASIA 2, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CORNELIA DE LANGE SYNDROME 2, BIOTINIDASE DEFICIENCY, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, POLYCYSTIC LIVER DISEASE, HOLOPROSENCEPHALY-3, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, PYRUVATE CARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, HYPOBETALIPOPROTEINEMIA, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, ?HYDROXYKYNURENINURIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, HEART-HAND SYNDROME, SLOVENIAN TYPE, NEUROCUTANEOUS MELANOSIS, SOMATIC, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, CPT II DEFICIENCY, LETHAL NEONATAL, LOEYS-DIETZ SYNDROME 4, ACROKERATOSIS VERRUCIFORMIS, REVESZ SYNDROME, GLYCOGEN STORAGE DISEASE IV, SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE, CAMURATI-ENGELMANN DISEASE, LATHOSTEROLOSIS, FAVISM, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, POPLITEAL PTERYGIUM SYNDROME 1, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, DEJERINE-SOTTAS DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC 6, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP A, USHER SYNDROME, TYPE 1G, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, PEROXISOME BIOGENESIS DISORDER 2B, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, USHER SYNDROME TYPE 3B, CAPOS SYNDROME, ?THROMBOXANE SYNTHASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, FILS SYNDROME, [FLECK RETINA, FAMILIAL BENIGN], MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHIME SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, PARAGANGLIOMAS 5, MILLER SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, COFFIN-SIRIS SYNDROME 4, ?LAURENCE-MOON SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 5, CRYOHYDROCYTOSIS, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, BERGER DISEASE, NIEMANN-PICK DISEASE, TYPE B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, [FRUCTOSURIA], FISH-EYE DISEASE, 5-OXOPROLINASE DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, CANAVAN DISEASE, ?SPINOCEREBELLAR ATAXIA 26, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, ?CATARACT 30, PULVERULENT, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, HYPEROXALURIA, PRIMARY, TYPE 1, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, MYOCLONUS, FAMILIAL CORTICAL, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, GAUCHER DISEASE, PERINATAL LETHAL, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, THANATOPHORIC DYSPLASIA, TYPE II, HYPERPARATHYROIDISM 1, MANNOSIDOSIS, BETA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, COENZYME Q10 DEFICIENCY, PRIMARY, 7, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, PSEUDOHYPOPARATHYROIDISM IA, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 23, {MACULAR DEGENERATION, AGE-RELATED, 2}, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, LIEBENBERG SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PYRUVATE KINASE DEFICIENCY, LUJAN-FRYNS SYNDROME, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, CATSHL SYNDROME, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, LYNCH SYNDROME I, JACKSON-WEISS SYNDROME, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, WAARDENBURG SYNDROME, TYPE 3, FACTOR X DEFICIENCY, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, ETHYLMALONIC ENCEPHALOPATHY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, BLEEDING DISORDER, PLATELET-TYPE, 15, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, HAILEY-HAILEY DISEASE, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], SENIOR-LOKEN SYNDROME-1, LEBER CONGENITAL AMAUROSIS 13, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OLIVER-MCFARLANE SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, HYPERTENSION AND BRACHYDACTYLY SYNDROME, OPTIC NERVE HYPOPLASIA, XERODERMA PIGMENTOSUM, TYPE 1, CALCIUM OXALATE UROLITHIASIS, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, CHOROID PLEXUS PAPILLOMA, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, MALONYL-COA DECARBOXYLASE DEFICIENCY, MYOPATHY DUE TO CPT II DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, THROMBOCYTOPENIA 4, UTERINE LEIOMYOMA, MUCOPOLYSACCHARIDOSIS IH/S, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ?MYOPATHY, SCAPULOHUMEROPERONEAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

1085

CALM1, CA2, UROD, RPL5, LRPAP1, LAMB1, HBB, EPHX1, GLMN, VARS2, TSC2, PSPH, GPT2, ACADS, DNM2, LBR, CPT2, CUL3, ACAT2, ATP6V1B1, CAV3, SUOX, GUSB, HAGH, POGLUT1, POLD1, GSS, B3GAT3, HDC, PRPF3, SLC33A1, GGCX, NSDHL, LCT, GLYCTK, B2M, GALK1, PGR, RANBP2, LRAT, FH, H6PD, PNPT1, AGK, PDE6G, G6PC, POMGNT1, ARFGEF2, WNK1, ARSE, GFI1B, GYS2, HARS, ATN1, HPSE2, CYP2C19, CREBBP, HGD, LIPT1, CANT1, WWOX, GATM, PMS2, HYAL1, PTEN, PHKB, VLDLR, THRB, FGFR3, KL, KDM6A, APOA1, DHDDS, IFNG, CALCR, AR, ENO3, IDS, CDK6, NDUFS6, ALDH7A1, PAXIP1, HS6ST1, ABAT, ADCY1, MT-ND6, ADCY10, HMGA1, MGAT2, ALG11, PIK3CD, ALAD, ASS1, MRE11A, TAT, AIFM1, CBL, DNA2, CCND1, TALDO1, JAK2, GNS, EFTUD2, SUCLA2, AP1S2, MAT1A, PDE3A, TECR, ITPR1, TGFB1, GALNT3, HSPD1, BMP4, FCGR2B, PIKFYVE, NOL3, EZH2, NDUFA1, GAD1, RYR1, PPP2R2B, ALAS2, CYP21A2, HTR2A, NAGS, ENPP1, NAT8L, KMT2A, DPAGT1, FAH, NDUFA10, SMC3, ALDH3A2, PDE6C, VPS53, MT-CO1, CHST6, CP, BANF1, TCIRG1, ALDOA, AGL, SLC35A2, PMVK, HMBS, SUFU, NDUFA12, BCS1L, SETD2, SMAD4, PIGY, RPIA, GNMT, CHST14, EPHX2, CEP63, AK2, YARS, TNFSF11, HPRT1, PYCR1, ALDH2, NARS2, VMA21, GLDC, PPP2R1A, DBH, NDUFA2, AKT1, SLC9A1, INPPL1, PPIB, PAPSS2, PCYT1A, SETD1A, DLAT, PRKCD, TANGO2, UBE3A, ABCB7, COX15, AGPS, HGF, KARS, CNGB1, A2M, CDH1, IRF5, PEX13, DHODH, FANCA, HSPA9, GNE, PPP2R1B, BGLAP, POMC, ETFB, STS, SDHA, CTH, CYP2U1, MTM1, ADK, CHIT1, POLA1, CHST3, CUL4B, MT-ND4, SPTLC2, MOGS, NDST1, MLF1, GNAO1, IL1B, HNRNPK, PYGL, GRHPR, LHCGR, NPHP1, NONO, PCDH15, LPL, NDUFA9, GATA4, NUP155, CDKN3, HPD, RARS, PLCB1, MT-CO2, PLCE1, SRD5A2, PLA2G5, HMGB3, PCCA, LIPE, CXCR4, BRAF, DCXR, PAK3, AMPD3, NDUFS8, B4GALT1, ZMPSTE24, GNAS, KERA, CALR, AMT, CHAT, BCO1, GHRL, EGFR, DHCR24, TF, POLR3B, NCF1, RDH11, SIM1, ALB, SDHB, IL4R, PDE4D, GCH1, DMPK, SURF1, MMAB, GPI, PEX14, MLYCD, TBXAS1, APOB, COQ9, QARS, MYC, CYP3A5, NAA10, ACP2, AGRN, DDC, PGK1, MOCS2, MEF2A, PSEN1, ELOVL4, GBA2, ALPL, B3GLCT, GFAP, PDSS1, COX6A1, PIGT, TAF1, CCT5, PNPO, HARS2, ECHS1, CDK4, BMP2, MCCC2, MYOC, IDUA, BAAT, PITX1, NDUFS4, HADH, ASPM, NAGA, NPR2, DYSF, PGAP1, EOGT, DES, MT-CO3, BCKDHB, TPK1, AKR1C4, GAL, PTPN1, CYP11B1, ACY1, CDC73, POR, DLD, ERBB2, COQ2, INPP5E, APOA2, HSD11B1, MVD, NR2E3, IL13, GNAI2, MAOA, RYR2, CYB5R3, TUB, MCEE, IVD, SOX9, PCCB, RRM2B, ACAN, SCP2, MMP2, ALDOB, PGAM2, NPPA, DRD3, CYP7B1, XPA, MPI, CLIC5, PDE8B, IL12B, NOTCH1, IDH2, PPT1, POFUT1, CA4, CBS, CORO1A, AMACR, UPB1, GBA, EGR2, PRODH, CFL2, VCAN, SP110, MSX2, EHHADH, ESR1, GK, KMT2C, EARS2, PTH, PAX7, FUT2, JUP, LRP5, NRAS, LIPC, LCAT, ERLIN2, MEN1, KDR, PRKG1, L2HGDH, ALG3, TAZ, SI, XDH, RB1, UGT1A1, FGF23, PIGM, STAT3, PKLR, HMGCS2, ADD1, SLC26A3, ADCY6, NDUFS3, DMD, PIGR, CD81, PIGA, MED12, NT5C3A, DPH1, LSS, TSG101, NDUFB3, MT-ATP6, IGF1, EMD, GCNT2, KRT5, RASA1, SMAD9, CD36, G6PD, CYP27B1, SC5D, TXNL4A, GMPPB, EEF2, AASS, DARS, B4GALNT1, TGDS, HRAS, HMGCL, GLUL, NDN, BBS10, SMC1A, DMGDH, LIG4, SLC5A7, VDR, SMN2, FGFR1, HSD11B2, NAGLU, ATXN1, ETFA, LIPA, ITPA, LRP2, CYCS, CASP8, CLIC2, SNTA1, PDSS2, MUC7, SNCA, CA12, OPTN, SLCO1B1, DGAT1, PRKCG, HK1, NF1, NT5C2, COQ4, GCLC, NME8, GALE, GUCY1A3, MT-ND3, SCYL1, COX7B, NDUFV1, OTC, DDX41, BARD1, ISG15, DLG3, KRT8, MTFMT, TPMT, PDHX, PAX3, ACTG1, ATP2A2, JAGN1, CYP19A1, PRKCSH, UBA1, XYLT1, P4HB, TYMP, ACAT1, GATA6, KMT2D, VCP, MTR, ALOX12B, SPTLC1, MUT, SLC34A1, IGF1R, NOTCH2, PLG, WHSC1L1, C10orf2, CERS3, LDLR, BLM, DNMT1, GBE1, ACTN4, AMPD1, CPS1, PIK3R1, PHB, THRA, DCN, CYP17A1, PCNA, ATP1A3, POLR1C, AGA, TUFM, HSD3B2, FTH1, ASPA, ADA, SMAD3, ALDH18A1, HSPG2, TNF, EXT2, TNNI3, NDUFS2, ODC1, GPD1, SERPINE1, GPD1L, MTOR, ATIC, PEX5, MPDZ, SDC3, ARL6IP1, F2, TNFRSF1A, ASAH1, PAFAH1B1, CTNNA1, ADRB2, STT3B, ADSL, ALDH6A1, TPM1, AKT3, CYP27A1, IKBKG, HEXB, PLCD1, MUC1, CYP11B2, CAV1, ATP6V1B2, AGT, PMM2, HEXA, CDK5, TRAPPC2, NOTCH3, DKC1, KDM1A, GALT, BTD, PCK2, BTK, IRX5, MCM6, PLAU, MANBA, OPLAH, ALG1, PDE6D, SEPSECS, FBP1, KAT5, COL1A1, FANCM, PIK3CA, PTPN11, UGT1A4, ST3GAL5, SIL1, COX4I2, HADHA, COX8A, FMO3, CYP26C1, PRKAG2, GFPT1, GATA3, PRKACG, CASK, RBPJ, CTSD, ERBB4, NUBPL, BCKDHA, ACTA1, ACTB, SMARCA4, UROC1, IL10, RB1CC1, NDUFS7, IGF2, GRN, NOS3, SELP, NR1I3, MAPT, CAD, MYD88, AK1, ADH1C, SH3BP2, THPO, MET, ATP1A2, ACTN1, NNT, MSMO1, TK2, ABCA1, TNNT2, PLOD1, DGUOK, ARG1, PLOD3, HGSNAT, LMNA, RPS24, CEL, ACO2, CNNM4, EBP, GMPPA, HSD17B3, LYRM4, POLR1D, MCPH1, EEF1A2, DSE, FOXO1, ERCC5, MYH6, DPYD, UQCRQ, ST3GAL3, GUCY2C, ALDH5A1, ALG6, IMPAD1, CYP2D6, RPS6KA3, MLLT11, ERCC8, TMLHE, HAO1, INS, PAM16, TYRP1, IRF7, TPO, COMT, GUCA1A, FASLG, GDI1, CD79A, CD44, TYR, DAO, MT-CYB, SMPD1, RPS14, TGFB2, PDE6H, HSD17B10, PTDSS1, EXT1, RAB7A, G6PC3, PITX3, CPT1C, CSRP3, SYN1, B4GALT7, TXN2, ETHE1, VHL, LIAS, GRIN2B, RDX, FKBP14, PPOX, ITGB2, HIBCH, FN1, RPE65, POLR3A, SMS, AIMP1, TUBGCP4, ATP5A1, AKT2, ALDH1A3, PHGDH, PTS, FECH, RPS10, DBT, CTPS1, CD19, PDE6B, MCCC1, TRPM7, TSHR, ACADSB, CA8, ATR, AQP2, STX1B, ADH1B, SLC9A3R1, POLG2, IRS2, STAT2, COX10, EHMT1, RBP4, VKORC1, PFKM, SSR4, PGM1, ATXN2, SUCLG1, SLC40A1, SMARCB1, MTHFR, HDAC8, MYH7, NOS2, DHCR7, TLR4, SLC25A32, COX14, EIF2B1, GAMT, PNKD, AKR1C2, PANK2, TBP, MYH9, TAF6, SARDH, REN, PNPLA6, POMT1, LEP, ENTPD1, POLE, UQCRB, HERC2, PDE10A, PNPLA2, DNMT3A, BAX, ATP6AP2, ABCA4, MARS2, CYP1B1, RDH5, PLOD2, TRH, APP, PYCR2, EIF2B3, HNMT, MT-ND4L, MOCS1, F10, KHK, POLG, MTAP, ACTN2, CD27, AGPAT2, SPTAN1, IRF6, PEX7, NDUFB11, TINF2, TMEM199, DHFR, ALG13, NSD1, PNLIP, SRCAP, SMARCAD1, FUCA1, LMAN1, HLCS, PIGV, NFKB1, POLR1A, PRPF8, MAN1B1, APRT, PRPH, ACOX1, SRD5A3, NDUFA11, NT5E, ERCC1, COQ7, BCAP31, GATA5, ACP5, SEMA3A, ITGB3, MLH1, ALG10, MYO5A, PPARG, INSR, CERS1, OAT, OTX2, PRKAR1A, GALNS, SYNJ1, EIF2B2, CTNNB1, SOX10, NUP62, OCRL, MAN2B1, PRPS1, COX6B1, NCF4, TFRC, CLASP1, SDHC, VIM, RAF1, SCO2, NEU1, ALG2, TRIM32, DLC1, PIGL, PIP5K1C, SBF1, HAL, ERCC2, PDGFRB, ALDH4A1, XYLT2, CD40, CPT1A, ARHGDIA, PIGG, NDUFB9, MT-ND2, DNMT3B, IMPDH1, IRS1, CYP2R1, PGM3, SMARCA2, HAX1, SDHD, ASNS, SHMT1, STT3A, PIGO, KRAS, TP53, TERT, PAX6, CAPN3, PLA2G7, GLUD2, ATP1B1, IDH1, ZHX2, AUH, CPOX, LMNB1, IL6, LRP1, ACACA, LPIN1, AKR1D1, ARSA, LTC4S, FUT1, UMPS, COQ6, CRX, LHX3, NR3C1, XRCC4, AGXT, PDE11A, HELLS, CDKN1B, EIF4G1, COPA, HINT1, LONP1, MRPL44, UCHL1, GNPAT, NR0B1, KCNMB1, ATP2C1, HTT, LDHA, PDGFRA, TUBG1, EP300, NR5A1, SLC4A1, AP1S1, ATP6V0A2, GCDH, CLPB, POMT2, EIF2B5, PCBD1, HCFC1, ACADVL, CYP24A1, CTDP1, GLUD1, ADCY5, BPGM, ALOX5, PCK1, BMPR2, TUBA8, LARS, EDN1, TTR, PLA2G6, RAB39B, GJA1, DPM2, FTCD, PIGW, AHSG, HNF4A, SPR, MYCN, VWF, MECP2, MVK, TNNT3, CYP2A6, GCK, PYGM, DPM1, FOXP3, PMPCA, UROS, MLH3, ELANE, HADHB, NDUFS1, MRPL3, BRCA1, DDX58, UQCRC2, GYS1, SEC63, NME1, NEFL, GPD2, AXIN1, SLC26A4, CYP2C9, COASY, CHSY1, CCL2, PSAT1, SGSH, ARSB, GCSH, OGDH, B3GALT6, ACADM, KYNU, TH, CHRM3, DDOST, TPI1, GAA, SKIV2L, GPX4, PAH, NMNAT1, SUMF1, CYC1, LCK, GUCY2D, FLNA, MYH11, NGF, TUBGCP6, HCCS, DPYS, ADAMTS10, HSD17B4, ASL, HPCA, PDHA1, HBA1, PIGC, ATM, AHCY, GLB1, POT1, BRF1, QDPR, AVP, DISC1, B4GAT1, PTGIS, FXN, NAT2, GALC, PLA2G2A, BLVRA, TUSC3, SELE, NDUFV2, MSH2, FGFR2, PLCG2, RDH12, GPX1, NPHS1, MARS, GLA, CA5A, FANCC, MT-ND5, ELOVL5, RAD51, GPC3, PEX19, GALNT14, PNP, DGKE, POLR2F, DOLK, AMPD2, ACSL4, DNAJC3, GNRH1, RUNX2, COL4A3BP, CFTR, NR0B2, MT-ND1, MTHFD1, NHP2, CHKB, PLCB4, HSD3B7, PC, PIGN, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Cellular ProcessesYesN2.31884e-190.931595

ATROPHODERMA VERMICULATUM, ROBINOW-SORAUF SYNDROME, PEROXISOME BIOGENESIS DISORDER 5B, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), ACHONDROPLASIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?IMMUNODEFICIENCY 39, DESMOID DISEASE, HEREDITARY, CEROID LIPOFUSCINOSIS NEURONAL 6, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, DYSAUTONOMIA, FAMILIAL, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, LARON DWARFISM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, ALPHA-2-MACROGLOBULIN DEFICIENCY, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, COFFIN-LOWRY SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, INCONTINENTIA PIGMENTI, HYPERPROINSULINEMIA, SPINOCEREBELLAR ATAXIA 15, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, MICROVILLUS INCLUSION DISEASE, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, C2 DEFICIENCY, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, CK SYNDROME, ATRIAL SEPTAL DEFECT 9, BENIGN FAMILIAL HEMATURIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, EPIDERMOLYSIS BULLOSA, PRETIBIAL, BURKITT LYMPHOMA, PRADER-WILLI SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, HOLT-ORAM SYNDROME, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, ?ATRIAL FIBRILLATION 15, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, BRACHYDACTYLY, TYPE E2, HYPER-IGD SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, HYPOSPADIAS 1, X-LINKED, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, CLOVE SYNDROME, SOMATIC, MUCOPOLYSACCHARIDOSIS VII, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MODY, TYPE III, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, OPSISMODYSPLASIA, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, MENTAL RETARDATION, X-LINKED 63, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, CRANIOLENTICULOSUTURAL DYSPLASIA, FRONTONASAL DYSPLASIA 2, TUBEROUS SCLEROSIS-1, FRAGILE X SYNDROME, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIC, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, ?FIBROMATOSIS, GINGIVAL, 1, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?CARDIOMYOPATHY, DILATED, 2A, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, NOONAN SYNDROME 7, DEAFNESS, AUTOSOMAL RECESSIVE 29, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE, MARFAN LIPODYSTROPHY SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, CARDIOMYOPATHY, DILATED, 1V, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, COMBINED FACTOR V AND VIII DEFICIENCY, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, PANHYPOPITUITARISM, X-LINKED, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, FARBER LIPOGRANULOMATOSIS, NEMALINE MYOPATHY 5, AMISH TYPE, OVALOCYTOSIS, SA TYPE, MENTAL RETARDATION, X-LINKED 1, PIERSON SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, ACUTE MYELOID LEUKEMIA, M6 TYPE, POLYDACTYLY, PREAXIAL, TYPE IV, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, PERIODIC FEVER, FAMILIAL, DYSTONIA 27, SOTOS SYNDROME 1, DEAFNESS, AUTOSOMAL DOMINANT 1, RENAL TUBULAR DYSGENESIS, HEMOPHILIA A, ?SPINOCEREBELLAR ATAXIA 41, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, PSEUDOHYPOALDOSTERONISM, TYPE I, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, AMYLOIDOSIS, FINNISH TYPE, HERMANSKY-PUDLAK SYNDROME 2, SEGAWA SYNDROME, RECESSIVE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, IMMUNODEFICIENCY 36, FANCONI ANEMIA, COMPLEMENTATION GROUP C, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, DEAFNESS, AUTOSOMAL DOMINANT 56, MUSCULAR DYSTROPHY, CONGENITAL, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 2}, ADRENAL CORTICAL CARCINOMA, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, DOYNE HONEYCOMB DEGENERATION OF RETINA, OROFACIAL CLEFT 11, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, KRABBE DISEASE, ATYPICAL, FIBROCHONDROGENESIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?WAISMAN SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, CORNEAL DYSTROPHY, GROENOUW TYPE I, ?N SYNDROME, BRACHYDACTYLY, TYPE B2, DEAFNESS, AUTOSOMAL RECESSIVE 1B, POROKERATOSIS 1, MULTIPLE TYPES, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, DIABETES INSIPIDUS, NEPHROGENIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, 3MC SYNDROME 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, FACTOR XIIIA DEFICIENCY, ?MICROPHTHALMIA, SYNDROMIC 1, CRANIOSYNOSTOSIS, TYPE 2, PARIETAL FORAMINA 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, FAILURE OF TOOTH ERUPTION, PRIMARY, MARSHALL SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PSEUDOACHONDROPLASIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, SPHEROCYTOSIS, TYPE 4, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SENIOR-LOKEN SYNDROME 4, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), LYMPHEDEMA, HEREDITARY, IA, CEROID LIPOFUSCINOSIS, NEURONAL, 1, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, WAARDENBURG SYNDROME, TYPE 3, METATROPIC DYSPLASIA, SC PHOCOMELIA SYNDROME, PARIETAL FORAMINA 2, {HASHIMOTO THYROIDITIS}, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), SENIOR-LOKEN SYNDROME 5, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, FUCOSIDOSIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, CARDIOMYOPATHY, HYPERTROPHIC, 3, HARTSFIELD SYNDROME, IMMUNODEFICIENCY 21, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, GREENBERG SKELETAL DYSPLASIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SICK SINUS SYNDROME 1, OOCYTE MATURATION DEFECT 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OSSEOUS HETEROPLASIA, PROGRESSIVE, COMBINED SAP DEFICIENCY, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PAPILLORENAL SYNDROME, COLE-CARPENTER SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, ATRIAL SEPTAL DEFECT 5, USHER SYNDROME, TYPE 1F, IMMUNODEFICIENCY 14, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, SMALL CELL CANCER OF THE LUNG, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, MUCOPOLYSACCHARIDOSIS IH/S, RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE, USHER SYNDROME, TYPE 1D/F DIGENIC, USHER SYNDROME, TYPE 1D, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, MEIER-GORLIN SYNDROME 4, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FIBROCHONDROGENESIS 2, FRASIER SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 1, AGAMMAGLOBULINEMIA 4, 46,XX SEX REVERSAL, TYPE 2, CATARACT 6, MULTIPLE TYPES, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, DEAFNESS, AUTOSOMAL DOMINANT 3B, CORNEAL DYSTROPHY, AVELLINO TYPE, MYHRE SYNDROME, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, RETINITIS PIGMENTOSA 18, CUTIS LAXA, AD, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, {PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO}, LONG QT SYNDROME-3, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, THROMBOCYTOPENIA 5, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, LYMPHEDEMA, HEREDITARY, ID, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, CEROID LIPOFUSCINOSIS, NEURONAL, 7, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CONE-ROD DYSTROPHY 2, GLUCOCORTICOID RESISTANCE, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRANSALDOLASE DEFICIENCY, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, GILLESPIE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MENTAL RETARDATION, X-LINKED 99, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, HUNTINGTON DISEASE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, MUCOPOLYSACCHARIDOSIS II, NEPHROTIC SYNDROME, TYPE 8, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, MENTAL RETARDATION, X-LINKED 46, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, DEAFNESS, AUTOSOMAL RECESSIVE 30, DEAFNESS, AUTOSOMAL DOMINANT 3A, LI-FRAUMENI SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), ?MYOSCLEROSIS, CONGENITAL, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, PLATELET GLYCOPROTEIN IV DEFICIENCY, RESTRICTIVE DERMOPATHY, LETHAL, ECTOPIA LENTIS, FAMILIAL, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, {PARKINSON DISEASE 18}, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, DENTIN DYSPLASIA, TYPE II, CARDIOMYOPATHY, HYPERTROPHIC, 4, DEAFNESS, AUTOSOMAL RECESSIVE 48, SPONDYLOCOSTAL DYSOSTOSIS 5, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, PERRY SYNDROME, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, XANTHINURIA, TYPE I, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, IMMUNODEFICIENCY 46, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DEAFNESS, AUTOSOMAL RECESSIVE 2, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, PREMATURE OVARIAN FAILURE 7, SUPRANUCLEAR PALSY, PROGRESSIVE, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, LONG QT SYNDROME 15, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 38, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, CARASIL SYNDROME, DANON DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, CEROID LIPOFUSCINOSIS, NEURONAL, 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MULTIPLE SYNOSTOSES SYNDROME 1, SALLA DISEASE, ?REYNOLDS SYNDROME, ?STEEL SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, TRICHOMEGALY, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, ?RENAL HYPODYSPLASIA/APLASIA 2, GAUCHER DISEASE, TYPE IIIC, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, LEUKODYSTROPHY, HYPOMYELINATING, 11, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, MULTIPLE ENDOCRINE NEOPLASIA IIA, ICHTHYOSIS, X-LINKED, LARSEN SYNDROME, C3 DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 18, CRANIOFRONTONASAL DYSPLASIA, ?OPTIC ATROPHY 9, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, NAXOS DISEASE, ENCEPHALOPATHY, NEONATAL SEVERE, FRANK-TER HAAR SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, MYOPATHY, MYOFIBRILLAR, 5, HAY-WELLS SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, CULLER-JONES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, RETINITIS PIGMENTOSA 59, CREATINE PHOSPHOKINASE, ELEVATED SERUM, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, NEURODEGENERATION WITH BRAIN IRON ACCULULATION 5, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, EIKEN SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, HMG-COA SYNTHASE-2 DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, NAIL-PATELLA SYNDROME, IMAGE SYNDROME, ASPARTYLGLUCOSAMINURIA, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, KANZAKI DISEASE, PEROXISOME BIOGENESIS DISORDER 7B, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, CORTICAL MALFORMATIONS, OCCIPITAL, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, ABCD SYNDROME, KARTAGENER SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, STICKLER SYNDROME, TYPE III, AGAMMAGLOBULINEMIA 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), AMELOGENESIS IMPERFECTA, TYPE IH, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, HOLOPROSENCEPHALY-5, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC, ?MIRROR MOVEMENTS 3, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, BLAU SYNDROME, SPINOCEREBELLAR ATAXIA 14, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, ARTHROGRYPOSIS, DISTAL, TYPE 8, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, PYCNODYSOSTOSIS, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PEELING SKIN SYNDROME 4, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, BRACHYDACTYLY, TYPE C, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS, CARDIOMYOPATHY, DILATED, 1NN, ?MULTIPLE SYNOSTOSES SYNDROME 3, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, BRACHYDACTYLY, TYPE A1, C, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, NOONAN SYNDROME 9, DENYS-DRASH SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 2, TOOTH AGENESIS, SELECTIVE, 7, SEBASTIAN SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, TARSAL-CARPAL COALITION SYNDROME, FRAXE, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALFORMATION OF THE HEART, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, METACARPAL 4-5 FUSION, MUCOLIPIDOSIS IV, SYMPHALANGISM, PROXIMAL, 1A, HEIMLER SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, MEDNIK SYNDROME, RETINITIS PIGMENTOSA 37, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, KNOBLOCH SYNDROME 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, PEROXISOME BIOGENESIS DISORDER 3B, VENTRICULAR SEPTAL DEFECT 3, {MELANOMA, CUTANEOUS MALIGNANT, 3}, SPINOCEREBELLAR ATAXIA 21, NOONAN SYNDROME 10, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, OVARIAN DYSGENESIS 1, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, GLYCOGEN STORAGE DISEASE VII, ?IMMUNODEFICIENCY 22, COLOBOMA, OCULAR, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, KRABBE DISEASE, MENTAL RETARDATION, X-LINKED 19, BRANCHIOOTIC SYNDROME 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, EPITHELIAL RECURRENT EROSION DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, CEROID LIPOFUSCINOSIS, NEURONAL, 3, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LEUKODYSTROPHY, HYPOMYELINATING, 9, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, ?PARKINSONISM WITH SPASTICITY, X-LINKED, BOWEN-CONRADI SYNDROME, NEUROFIBROMATOSIS, TYPE 2, HYPEREKPLEXIA HEREDITARY, LEGG-CALVE-PERTHES DISEASE, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, MUCOPOLYSACCHARIDOSIS IVA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, CARDIOMYOPATHY, DILATED, 1U, GAUCHER DISEASE, TYPE II, CEROID LIPOFUSCINOSIS, NEURONAL, 10, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, BASAL CELL NEVUS SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, DIAMOND-BLACKFAN ANEMIA 5, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, WAARDENBURG SYNDROME, TYPE 4A, ?OSTEOGENESIS IMPERFECTA, TYPE X, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CONGENITAL DIAPHRAGMATIC HERNIA, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), ALZHEIMER DISEASE, TYPE 4, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), IMMUNODEFICIENCY 43, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, PCWH SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, TOENAIL DYSTROPHY, ISOLATED, HMG-COA LYASE DEFICIENCY, OPITZ GBBB SYNDROME, TYPE I, MECKEL SYNDROME 10, ESSENTIAL HYPERTENSION, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, PARKINSON DISEASE 1, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, DEMENTIA, FAMILIAL, NONSPECIFIC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FANCONI RENOTUBULAR SYNDROME 2, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {BLEPHAROSPASM, PRIMARY BENIGN}, STIFF SKIN SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, OSTEOGENESIS IMPERFECTA, TYPE II, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, ?DYSTONIA, JUVENILE-ONSET, VISCERAL MYOPATHY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, MARINESCO-SJOGREN SYNDROME, MIRROR MOVEMENTS 1, ODONTOONYCHODERMAL DYSPLASIA, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, NASU-HAKOLA DISEASE, RENAL TUBULAR ACIDOSIS, DISTAL, AD, ALPORT SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), [PREMATURE CHROMATID SEPARATION TRAIT], ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, 46XY SEX REVERSAL 6, MAY-HEGGLIN ANOMALY, PEROXISOME BIOGENESIS DISORDER 6B, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, PORENCEPHALY 2, ACROMICRIC DYSPLASIA, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, RETINITIS PIGMENTOSA 41, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, RETINITIS PIGMENTOSA 60, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, HYPOPHOSPHATASIA, INFANTILE, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, ADENYLOSUCCINASE DEFICIENCY, ?IMMUNODEFICIENCY 37, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, DILATED, 1JJ, ZIMMERMANN-LABAND SYNDROME 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, EPILEPSY, PROGRESSIVE MYOCLONIC 1A (UNVERRICHT AND LUNDBORG), STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AURICULOCONDYLAR SYNDROME 3, GLYCOGEN STORAGE DISEASE XII, APLASIA OF LACRIMAL AND SALIVARY GLANDS, CALCIFICATION OF JOINTS AND ARTERIES, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, BRUCK SYNDROME 2, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], SYNDACTYLY, TYPE V, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, IVIC SYNDROME, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, CAFFEY DISEASE, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?BARDET-BIEDL SYNDROME 11, THROMBOCYTHEMIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, ALZHEIMER DISEASE-2, IMMUNODEFICIENCY 33, OTOPALATODIGITAL SYNDROME, TYPE I, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, SED CONGENITA, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), DEAFNESS, AUTOSOMAL RECESSIVE 53, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, {LEPROSY, SUSCEPTIBILITY TO}, EXUDATIVE VITREORETINOPATHY 4, DEAFNESS, AUTOSOMAL RECESSIVE 24, PREMATURE OVARIAN FAILURE 5, VOHWINKEL SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, LISSENCEPHALY 3, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, INFANTILE MYOFIBROMATOSIS 1, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BLEEDING DISORDER, PLATELET-TYPE, 11, DIABETES INSIPIDUS, NEPHROGENIC, PEELING SKIN SYNDROME 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LARYNGOONYCHOCUTANEOUS SYNDROME, GM1-GANGLIOSIDOSIS, TYPE III, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, TIETZ ALBINISM-DEAFNESS SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MAST CELL DISEASE, OLIGODONTIA-COLORECTAL CANCER SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, ATAXIA-OCULOMOTOR APRAXIA 3, ATRIAL FIBRILLATION, FAMILIAL, 10, CARDIOMYOPATHY, HYPERTROPHIC, 7, ATELOSTEOGENESIS, TYPE III, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, FACTOR V DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, MANNOSIDOSIS, ALPHA-, TYPES I AND II, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, {PARKINSON DISEASE 8}, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, DEAFNESS, AUTOSOMAL DOMINANT 11, RETINITIS PIGMENTOSA, PORENCEPHALY 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, DEAFNESS, AUTOSOMAL DOMINANT 4A, ?PROGESTERONE RESISTANCE, MANDIBULOACRAL DYSPLASIA, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, SPINOCEREBELLAR ATAXIA 27, IMMUNODEFICIENCY 35, VAN BUCHEM DISEASE, TYPE 2, BRUGADA SYNDROME 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, BOHRING-OPITZ SYNDROME, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CARDIOMYOPATHY, HYPERTROPHIC, 25, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, CATARACT 16, MULTIPLE TYPES, ?MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT (AD), ?MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (AR), LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, SPLIT-HAND/FOOT MALFORMATION 6, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, MELNICK-FRASER SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ?TETRA-AMELIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, HEIMLER SYNDROME 2, BRACHYDACTYLY, TYPE A1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, WAARDENBURG SYNDROME, TYPE 4C, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, PELGER-HUET ANOMALY, TIMOTHY SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), RETINITIS PIGMENTOSA 13, ATRIAL SEPTAL DEFECT 2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), BRACHYDACTYLY, TYPE A2, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, [BONE MINERAL DENSITY VARIABILITY 1], MYOPATHY, MYOFIBRILLAR, 4, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, GROWTH HORMONE INSENSITIVITY, PARTIAL, MEIER-GORLIN SYNDROME 2, POROKERATOSIS 3, MULTIPLE TYPES, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, MUCOLIPIDOSIS III ALPHA/BETA, VAN MALDERGEM SYNDROME 2, MENTAL RETARDATION, X-LINKED 72, DEAFNESS, X-LINKED 5, METACHONDROMATOSIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SED, MAROTEAUX TYPE, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, ECTOPIA LENTIS ET PUPILLAE, OSTEOGENESIS IMPERFECTA, TYPE XVII, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY, DEAFNESS, AUTOSOMAL DOMINANT 13, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, BRACHIOOTIC SYNDROME 3, IMMUNODEFICIENCY 20, HETEROTOPIA, PERIVENTRICULAR, PARKINSON DISEASE 21, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, ?RETINITIS PIGMENTOSA 67, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, ?CATARACT 43, BONE MARROW FAILURE SYNDROME 1, MYOTONIC DYSTROPHY 1, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, EPIDERMOLYSIS BULLOSA PRURIGINOSA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, MACHADO-JOSEPH DISEASE, DEAFNESS, AUTOSOMAL DOMINANT 23, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V, AARSKOG-SCOTT SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 16, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, ALBINISM, OCULOCUTANEOUS, TYPE III, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DUANE-RADIAL RAY SYNDROME, MYXOMA, INTRACARDIAC, EPIDERMOLYTIC HYPERKERATOSIS, WIEDEMANN-STEINER SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 37, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, CARDIOMYOPATHY, DILATED, 1E, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, CARDIOMYOPATHY, HYPERTROPHIC, 12, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, PRIMARY PULMONARY HYPERTENSION, WRINKLY SKIN SYNDROME, [BLOOD GROUP, DUFFY SYSTEM], COFFIN-SIRIS SYNDROME 3, RHEUMATOID ARTHRITIS, EPIDERMAL NEVUS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 15 (CABEZAS TYPE), VAN DEN ENDE-GUPTA SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, GAUCHER DISEASE, TYPE I, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NON-IMMUNE HYDROPS FETALIS, EVEN-PLUS SYNDROME, ?EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, COMMON VARIABLE IMMUNODEFICIENCY 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, SPONDYLOPERIPHERAL DYSPLASIA, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, PEROXISOME BIOGENESIS DISORDER 8B, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, HYPOCHONDROPLASIA, SPINOCEREBELLAR ATAXIA 17, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ?PRUNE BELLY SYNDROME, CORNEAL FLECK DYSTROPHY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, CHONDRODYSPLASIA, GREBE TYPE, ATRIAL FIBRILLATION, FAMILIAL, 6, SEA-BLUE HISTIOCYTE DISEASE, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, XERODERMA PIGMENTOSUM, GROUP D, HERMANSKY-PUDLAK SYNDROME 7, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, USHER SYNDROME, TYPE 1B, PEUTZ-JEGHERS SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, FECHTNER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, ATRANSFERRINEMIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, 3MC SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, RETINITIS PIGMENTOSA 73, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MOYAMOYA 6 WITH ACHALASIA, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, BOOMERANG DYSPLASIA, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, FOVEAL HYPOPLASIA 1, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER), FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 9, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, AURICULOCONDYLAR SYNDROME 2, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, LIMB-MAMMARY SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, BRACHYDACTYLY, TYPE A1, D, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SERKAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, POLYCYTHEMIA VERA, SOMATIC, CORNELIA DE LANGE SYNDROME 3, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, OCULOECTODERMAL SYNDROME, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ALCOHOL DEPENDENCE, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, LEUKODYSTROPHY, HYPOMYELINATING, 12, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, MUCOLIPIDOSIS III GAMMA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, PLASMA FIBRONECTIN DEFICIENCY, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PHYTANIC ACID STORAGE DISEASE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MYOPATHY, MYOFIBRILLAR, 2, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, MUIR-TORRE SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ATRIOVENTRICULAR SEPTAL DEFECT 5, {PARKINSON DISEASE 17}, RENAL ADYSPLASIA, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, ACNE INVERSA, FAMILIAL, 2, MOHR-TRANEBJAERG SYNDROME, SPERMATOGENIC FAILURE 8, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, IRIDOGONIODYSGENESIS, TYPE 2, RING DERMOID OF CORNEA, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HETEROTAXY, VISCERAL, 5, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, SPINOCEREBELLAR ATAXIA 5, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, ADAMS-OLIVER SYNDROME 6, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ATRIAL FIBRILLATION, FAMILIAL, 11, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SUPRAVALVAR AORTIC STENOSIS, ACNE INVERSA, FAMILIAL, 3, {GLIOMA SUSCEPTIBILITY 9}, TRIGONOCEPHALY 1, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, PAPILLON-LEFEVRE SYNDROME, GLIOMA SUSCEPTIBILITY 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, HYPOTRICHOSIS 2, GM1-GANGLIOSIDOSIS, TYPE II, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, FEINGOLD SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ENHANCED S-CONE SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, SPINOCEREBELLAR ATAXIA 36, AMELOGENESIS IMPERFECTA, TYPE IA, URBACH-WIETHE DISEASE, COWCHOCK SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, KERATOSIS, SEBORRHEIC, SOMATIC, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, HOLOPROSENCEPHALY-2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, GALACTOSIALIDOSIS, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, GM1-GANGLIOSIDOSIS, TYPE I, PREMATURE OVARIAN FAILURE 8, CORNELIA DE LANGE SYNDROME 4, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, QUESTION MARK EARS, ISOLATED, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, GAUCHER DISEASE, TYPE III, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?MYOFIBROMATOSIS, INFANTILE 2, PERRAULT SYNDROME 5, CHILD SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, ADERMATOGLYPHIA, GLAUCOMA 1, OPEN ANGLE, E, WAGNER SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, VON WILLIBRAND DISEASE, TYPE 3, ALEXANDER DISEASE, TREACHER COLLINS SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, NEPHROTIC SYNDROME, TYPE 12, MENTAL RETARDATION, X-LINKED 90, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, DIAMOND-BLACKFAN ANEMIA 7, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, AMYOTROPHIC LATERAL SCLEROSIS 20, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, DEAFNESS, DIGENIC GJB2/GJB6, DEAFNESS, AUTOSOMAL RECESSIVE 1A, DEAFNESS, DIGENIC, GJB2/GJB3, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, SELECTIVE T-CELL DEFECT, MULTIPLE ENDOCRINE NEOPLASIA IIB, CARDIOMYOPATHY, HYPERTROPHIC, 2, PULMONARY VENOOCCLUSIVE DISEASE 1, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, DYSTONIA-11, MYOCLONIC, CANDIDIASIS, FAMILIAL, 9, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, MIYOSHI MUSCULAR DYSTROPHY 1, FRONTOTEMPORAL DEMENTIA, PERIODONTITIS 1, JUVENILE, ?RETINAL ARTERIES, TORTUOSITY OF, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, NEUTROPENIA, CYCLIC, HAIM-MUNK SYNDROME, MACULAR DYSTROPHY, RETINAL, 2, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, BECKWITH-WIEDEMANN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, SECKEL SYNDROME 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, AORTIC ANEURYSM, FAMILIAL THORACIC 8, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, SYNDACTYLY, TYPE III, PEROXISOME BIOGENESIS DISORDER 14B, IMMUNODEFICIENCY 44, FAMILIAL COLORECTAL CANCER, OVARIAN HYPERSTIMULATION SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, ?DYSTONIA 23, WELANDER DISTAL MYOPATHY, NOONAN SYNDROME 4, ?JOUBERT SYNDROME 22, GM2-GANGLIOSIDOSIS, AB VARIANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, LIANG DISTAL MYOPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 6, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, KERATITIS, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, MULTIPLE ENDOCRINE NEOPLASIA 1, OGDEN SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, GLAUCOMA 1A, PRIMARY OPEN ANGLE, EXUDATIVE VITREORETINOPATHY 1, TOOTH AGENESIS, SELECTIVE, 1, WITH OR WITHOUT OROFACIAL CLEFT, CARDIOMYOPATHY, DILATED, 1A, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, MYOPATHY, DISTAL, TATEYAMA TYPE, PLEUROPULMONARY BLASTOMA, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, DYSTONIA-PARKINSONISM, X-LINKED, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, LEUKEMIA, CHRONIC MYELOID, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 39, OSTEOGENESIS IMPERFECTA, TYPE XV, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, PICK DISEASE, BRACHYOLMIA TYPE 3, ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ANEMIA, SIDEROBLASTIC, 4, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, ATELOSTEOGENESIS, TYPE I, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, RETINITIS PIGMENTOSA 27, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, VACTERL ASSOCIATION, X-LINKED, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, WAARDENBURG SYNDROME, TYPE 2D, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, MUCOLIPIDOSIS II ALPHA/BETA, CORNEAL DYSTROPHY, CONGENITAL STROMAL, BART-PUMPHREY SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MEIER-GORLIN SYNDROME 5, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, ATAXIA-TELANGIECTASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, SVEINSSON CHOREORETINAL ATROPHY, PARKINSON DISEASE 20, EARLY-ONSET, RETICULATE ACROPIGMENTATION OF KITAMURA, TOOTH AGENESIS, SELECTIVE, 4, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, KENNY-CAFFEY SYNDROME, TYPE 1, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, LONG QT SYNDROME 14, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, CYSTINOSIS, OCULAR NONNEPHROPATHIC, MYELOPEROXIDASE DEFICIENCY, STICKLER SYNDROME, TYPE II, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, LACTASE DEFICIENCY, CONGENITAL, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CLEFT PALATE, ISOLATED, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, MEVALONIC ACIDURIA, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, LACTASE PERSISTENCE/NONPERSISTENCE, MEIER-GORLIN SYNDROME 3, ?MUCOPOLYSACCHARIDOSIS TYPE IX, AVASCULAR NECROSIS OF THE FEMORAL HEAD, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, DEAFNESS, AUTOSOMAL DOMINANT 64, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CORNELIA DE LANGE SYNDROME 2, IMMUNODEFICIENCY 11, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, C1Q DEFICIENCY, HOLOPROSENCEPHALY-3, SIALIC ACID STORAGE DISORDER, INFANTILE, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, HYPOBETALIPOPROTEINEMIA, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, HEART-HAND SYNDROME, SLOVENIAN TYPE, TUMOR PREDISPOSITION SYNDROME, OVARIAN RESPONSE TO FSH STIMULATION, NEUROCUTANEOUS MELANOSIS, SOMATIC, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, LOEYS-DIETZ SYNDROME 4, REVESZ SYNDROME, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, CAMURATI-ENGELMANN DISEASE, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PARKINSON DISEASE 19, JUVENILE-ONSET, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE, PORETTI-BOLTSHAUSER SYNDROME, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, DEJERINE-SOTTAS DISEASE, METACHROMATIC LEUKODYSTROPHY, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, AORTIC VALVE DISEASE 2, DEAFNESS, AUTOSOMAL RECESSIVE 68, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), MENTAL RETARDATION, X-LINKED SYNDROMIC 5, GIANT AXONAL NEUROPATHY-1, USHER SYNDROME, TYPE 1G, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, STUTTERING, FAMILIAL PERSISTENT, 1, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, PEROXISOME BIOGENESIS DISORDER 2B, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, SPLENIC HYPOPLASIA, USHER SYNDROME TYPE 3B, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 6, CEROID LIPOFUSCINOSIS, NEURONAL, 5, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, HYPOPLASTIC LEFT HEART SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, CHYLOMICRON RETENTION DISEASE, HYPOPHOSPHATEMIC RICKETS, AR, AXENFELD-RIEGER SYNDROME, TYPE 1, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, 3-M SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ROBERTS SYNDROME, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, LEFT VENTRICULAR NONCOMPACTION 7, COFFIN-SIRIS SYNDROME 4, DEAFNESS, AUTOSOMAL RECESSIVE 35, CRYOHYDROCYTOSIS, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, WISKOTT-ALDRICH SYNDROME, NIEMANN-PICK DISEASE, TYPE B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, PREMATURE OVARIAN FAILURE 1, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, AMYOTROPHIC LATERAL SCLEROSIS 17, LOEYS-DIETZ SYNDROME 1, NEPHRONOPHTHISIS 15, EHLERS-DANLOS SYNDROME, TYPE 3, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, ?CATARACT 30, PULVERULENT, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SMED STRUDWICK TYPE, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, NEPHROTIC SYNDROME, TYPE 4, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, ?46XY SEX REVERSAL 5, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MASA SYNDROME, CRASH SYNDROME, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, BRACHYDACTYLY, TYPE D, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, BRACHYDACTYLY, TYPE B1, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, THANATOPHORIC DYSPLASIA, TYPE II, HYPERPARATHYROIDISM 1, CZECH DYSPLASIA, MANNOSIDOSIS, BETA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, HEPATIC ADENOMA, SOMATIC, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, CARDIOFACIOCUTANEOUS SYNDROME, [NOVELTY SEEKING PERSONALITY], DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, VESICOURETERAL REFLUX 8, HERMANSKY-PUDLAK SYNDROME 1, USHER SYNDROME, TYPE IJ, AGAMMAGLOBULINEMIA, X-LINKED 1, EBD, BART TYPE, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, PSEUDOHYPOPARATHYROIDISM IC, DEAFNESS, AUTOSOMAL RECESSIVE 23, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 1}, ?OTOFACIOCERVICAL SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PULMONARY HYPERTENSION, PRIMARY, 2, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, NEPHRONOPHTHISIS 4, DU PAN SYNDROME, ?ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2, LIEBENBERG SYNDROME, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, HYPERFERRITINEMIA-CATARACT SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, CATSHL SYNDROME, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, FUHRMANN SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, LYNCH SYNDROME I, JACKSON-WEISS SYNDROME, {BUDD-CHIARI SYNDROME}, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, BRACHYDACTYLY, TYPE E, FACTOR X DEFICIENCY, SPLIT-HAND/FOOT MALFORMATION 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, SCHOPF-SCHULZ-PASSARGE SYNDROME, MUCOPOLYSACCHARIDOSIS IS, ?DEAFNESS, X-LINKED 6, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, BLEEDING DISORDER, PLATELET-TYPE, 15, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, CHOREA, HEREDITARY BENIGN, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, NIEMANN-PICK DISEASE, TYPE C2, KNIEST DYSPLASIA, OPTIC NERVE HYPOPLASIA, HYPERPARATHYROIDISM, NEONATAL, CALCIUM OXALATE UROLITHIASIS, PARASTREMMATIC DWARFISM, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, ?PRECOCIOUS PUBERTY, CENTRAL, 1, MALONYL-COA DECARBOXYLASE DEFICIENCY, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, LEUKOCYTE ADHESION DEFICIENCY, WEAVER SYNDROME, HYPOPHOSPHATASIA, CHILDHOOD, CRANIOSYNOSTOSIS, TYPE 1, PAGET DISEASE OF BONE 3, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, THROMBOCYTOPENIA 4, UTERINE LEIOMYOMA, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, MYOTONIC DYSTROPHY 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEPHROTIC SYNDROME, TYPE 6, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, TANGIER DISEASE, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

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CA2, CALM1, TSC2, RPL5, LRPAP1, LAMB1, GLI2, SQSTM1, PITX1, CLN3, LMNA, PKD1, NTRK1, POMC, LBR, CUL3, IGF2R, GLI3, COL3A1, TECR, MCOLN1, ATP6V1B1, IRF7, FTL, PHEX, GUSB, LAMC3, TUBA1A, LRRK2, ITGA8, SOX2, VMA21, CASR, PTPRO, CSTA, CDC6, LCT, B2M, SLC17A5, PGR, ENG, SCARF2, ITGA3, PEX13, RAB7A, WNT4, GNPTAB, TRPM7, FZD4, WNK1, ASPM, PRKCH, GFI1B, PMS2, PEX2, ATN1, DNAI2, SALL1, CREBBP, NRL, GHR, MAFB, DYNC2H1, DDB2, SMARCA2, RASA1, T, TRPV4, KL, NFKB2, APOA1, DHDDS, ANLN, NALCN, DLX5, ISG15, IFNAR2, IDS, GNAS, PICALM, GSN, DRD4, DAG1, FSHB, BUB1B, CIITA, MTOR, LAMA1, CASK, PPT1, LEP, PEX6, PIK3CD, CTSF, ORC6, SCP2, AIFM1, CBL, AMACR, IRAK3, CCND1, TALDO1, JAK2, GNS, AP2S1, TNNT1, AP1S2, UNC45B, COL4A6, MIB1, ITPR1, VEGFC, HSPD1, ROR2, BMP4, CD36, TUBGCP4, ABCD4, NTF3, KRAS, TNNT2, GPD1, GDF5, AVPR2, HTR2A, ADRB3, TP63, THBS4, DUSP6, TYK2, SMC3, SYN2, ACVR1B, GATA1, SLC35A2, CAV3, MEN1, ALDOA, AGL, CTNNB1, IL2RA, NRAS, GABBR2, SMAD4, NLGN3, DVL3, CSF2RB, RPL11, STAG3, ETV6, PLS3, PRKG1, C1R, CD40LG, HDAC6, LRP5, SRP72, LAMA3, HRG, SOX9, PRPF3, GP6, PPP2R1A, TUBB, MYO7A, AKT1, INPPL1, FGF3, ADAMTS10, MASP1, DIAPH1, UBE3A, DYRK1A, SPTBN2, HFE, SH3PXD2B, AGPS, HGF, MYH14, SFTPA2, TWIST1, A2M, NSDHL, CSNK1D, CTNS, IL1B, AARS, NOTCH3, HSPA9, EFNB1, FAR1, LAMP2, BCR, CALCR, SCGB1A1, XDH, NOD2, PSTPIP1, MCM6, COL6A3, EYA1, POLA1, CUL4B, CSF1R, GNAQ, FGF23, SLC9A1, AURKA, FRZB, AQP5, TUBG1, LIPA, DIABLO, HADHB, KNG1, RASSF1, LHCGR, LAMA2, SEC23A, FAT4, DNAL4, CXCR4, SOS2, GATA4, SPG7, MXI1, BMPR1B, RARS, SPRY4, STAT3, MT-CO2, NOG, FLT3, IGFBP7, SOD1, AP4M1, WNT10A, ADCY5, EGR2, PDGFRB, PEX12, COL4A3, EPHA2, PAK3, PTPN12, FCGR3A, HLA-DQB1, BDNF, MBL2, CALR, CTCF, MLYCD, KAT6A, EGFR, ATXN3, AP3B1, TF, POLR3B, FBP1, ALB, FGF10, TSC1, ADCY1, HRAS, PAX8, GM2A, ODC1, ACTG2, DMPK, WNT10B, TUBA8, CTNNA1, GPI, PEX14, TRIM32, GJB6, CDKN1C, APOB, ORC4, MMP1, NAA10, VPS11, ACP2, PGK1, MEF2A, COL1A2, TCF7L2, MANBA, ALPL, AP4B1, GFAP, TNXB, VPS37A, ESCO2, DDOST, NPC1, GNAI2, ACAN, ITGA2B, TSG101, IDUA, HNRNPK, FGA, BAAT, COL6A1, FGF20, WT1, ERBB4, COL4A5, IKBKAP, SPTAN1, PROK2, SFTPA1, LMAN1, DES, CDT1, TGFBI, PCNT, GALNS, PRF1, CDC73, TYROBP, EMD, ERBB2, KCNMB1, MYH3, DIAPH3, EPHB2, CYC1, NR2E3, CLDN19, IL2RG, CUL7, PLCB1, SF3B4, TGFBR2, NCF4, SHOC2, RRM2B, TEAD1, LIMS2, ACTC1, PEX26, HOXB1, MAP2K2, HLA-C, NPPA, DRD3, ADCY6, NME1, SP7, HBA1, IL12B, ZIC2, NOTCH1, AGPAT2, IDH2, MYO5A, ERCC3, CTSC, NAGA, CBS, CSTB, EDNRA, MEF2C, GBA, SCARB2, RAD54B, KIF2A, CFL2, GCGR, VCAN, STAR, MSX2, KIF5C, COL17A1, B9D2, COL18A1, COL2A1, C2, MAP3K1, PTH, CRYAB, MYOM1, JUP, PIKFYVE, ACTA2, TCIRG1, FGFR3, HARS, RBPJ, AP4E1, EEF2, HOXA11, STS, PMVK, RB1, TNFRSF11A, STX11, GRIN2A, GPHN, HMGCS2, BRAF, SNAP25, NOBOX, DMD, USP8, CD81, NCF1, SMAD6, DPH1, GNPTG, MYOC, FOLR1, NECAP1, BLNK, IGF1, F13A1, FLT4, SMAD9, SYNGAP1, MYBPC3, PTH1R, GMPPB, PEX11B, F5, STX16, COL4A4, COL1A1, BMP2, GFPT1, F10, HMGCL, NDN, SMC1A, AP1S3, SMARCA4, VDR, FGFR1, NAGLU, ATXN1, ERBB3, TP53, LRP2, HCFC1, NCF2, IKBKB, CASP8, SH3GL1, MAPK8IP1, MET, LAMA4, SNCA, OPTN, SCGB3A2, PRKCG, FGF5, MYH2, TJP2, PTPRJ, AKAP10, ESRRB, TUBB2A, TUBB4A, DYNC1H1, MYH6, SCYL1, TCAP, USH2A, PEX1, BARD1, AR, DLG3, VPS45, KCNMA1, NODAL, PPP2R5D, ACVRL1, PAX3, TRAC, ACTG1, IQSEC2, COL5A2, NR5A1, ITGB4, P4HB, PRPF6, GATA6, RRAS2, DDX58, EMG1, CD79A, SPTLC1, STAT1, APPL1, F8, CACNA1C, MUT, SLC34A1, SLC2A4, EFEMP2, LDLR, BLM, DNMT1, FCGR2B, TIMM8A, TAP2, IL6, PIK3R1, PHB, THRA, DCN, PCSK9, ADAMTSL4, POLR1C, SLC9A3R1, AGA, ACTN1, APC, TUFM, PMPCA, PEX16, GDNF, TIA1, MFSD8, EPOR, PROM1, SMAD3, TUBB8, SLC25A20, HSPG2, TNF, NEB, ITGA6, C10orf2, SCRIB, SERPINE1, IL21, ATIC, DICER1, PEX5, MSR1, DYRK1B, ARL6IP1, F2, TNNI3, PAFAH1B1, MAD1L1, ADRB2, IGBP1, ADSL, RAD21, GAA, TPM1, AKT3, FAS, CDK6, IKBKG, HLA-G, HEXB, MSX1, HMGA1, MUC1, CAV1, ATP6V1B2, AGT, CLDN14, GNAI3, RAB39B, CDK5, CTNNA3, KDM1A, MCM4, NPHP4, CDH1, BTK, KMT2A, CC2D1A, SOS1, GJA5, STK11, FGF17, MYO3A, IL10, FMR1, SALL4, ARSB, PDE6D, KRT8, PNPLA2, KAT5, LAMB2, FGFR4, COL10A1, NOP56, PIK3CA, PTPN11, ABCD1, RYR2, ACSL4, WNT1, SIL1, JAG1, HNRNPA1, EHHADH, C1QC, POT1, FZD6, GRID2, ECM1, ASAH1, GATA3, TFRC, PRKACG, BAP1, CTSD, MUSK, RARB, ACTA1, DNM1, ACTB, ACVR1, DRD2, RUNX1, TUBB2B, RB1CC1, LZTR1, FIBP, IRF1, IGF2, NEK2, NOS3, SORT1, FANCC, MYD88, GATA2, CDSN, KIF5A, CHRM3, SOX3, EDA, MMP13, HEXA, ASXL1, PSEN1, ITGA2, KRT1, MSH6, ABCA1, COMP, PLOD3, GUCY1A3, DLL4, CEL, NFKBIA, ACP5, ICK, KIT, IRF8, MCPH1, POR, SPARC, EEF1A2, FOXO1, NR2F1, TNFRSF1A, TMEM173, SPRY2, TSHR, ESR1, GSC, NKX2-1, CLDN16, NPC2, RPS6KA3, WAS, VCP, AXIN2, HAO1, INS, PAM16, EZH2, TYRP1, COL11A2, COL7A1, FASLG, APOE, CHMP2B, CD44, ITGB3, DAO, SMPD1, RPS14, SERPINH1, AGTR1, PPM1D, C3, PAX2, LMX1B, HLA-DRB1, TLR2, SYN1, TGFB1, VHL, OTX2, COL4A1, RAPSN, GRIN2B, CEP164, RDX, STEAP3, BRCA1, ITGB2, NR3C1, FN1, CYBA, TUBB3, BIN1, ITPR2, CYBB, FOXC2, PHYH, KLF1, EPHX2, BMPR1A, IDH1, ACKR1, RUNX2, FBN1, AKT2, PC, RAF1, DCTN1, COL25A1, IHH, RPS10, POLD1, CDK4, RHO, TINF2, PDE4D, HNF1A, PTPN1, AP4S1, MYC, AQP2, TNFRSF10B, ABCD3, CLEC7A, PPP2R2B, STAT2, PTPRZ1, GABRG2, PFKM, SSR4, IRS1, FGD1, CORO1A, FGF14, SMARCB1, PRKCD, MYH7, NOS2, TLR4, IL4R, FLNB, EIF2B1, WNT3, BCL10, STXBP1, HOXC13, JAK3, FGF9, TBP, MAN2B1, MYH9, COL11A1, CLDN1, REN, STAMBP, TCF4, IL17RC, FSHR, FADD, IL13, ATM, FGF16, ALX4, BAX, NPM1, ATP6AP2, CRB1, PIP5K1C, DTNBP1, PLOD2, APP, TEK, GRM1, TNC, EDNRB, IRS2, CD82, ACTN2, MYH8, SFTPC, OCLN, HTRA1, HMGA2, GFI1, PEX7, PTS, DHFR, PTPRF, NSD1, PDGFB, SMARCAD1, FUCA1, NEU1, TPP1, NF2, POLR1A, PRPF8, KISS1, PRKAR1A, PRPH, ACOX1, TBCE, CHEK2, NT5E, DNM2, CYCS, MAPT, ITGB6, TAP1, TUBB1, GLB1, TBX3, MPO, HAX1, PPARG, COL5A1, PIK3R5, ARHGEF9, DSPP, DMP1, PTHLH, SLC11A2, GAN, EFEMP1, KISS1R, DDR2, SOX10, COL27A1, PLG, CDKN2A, ARFGEF2, PEX3, MYL3, CLASP1, VIM, MPV17, S1PR2, ALG2, MMP2, DARS, SIX3, ERCC2, SNAI2, LAMC2, HIP1, HOXD13, CD40, ARHGDIA, HLA-DQA1, LRP6, HTR1A, ATP6V0A2, MITF, ANXA5, PTCH1, WNT7A, HSD17B4, CTSK, TAF1, CIB2, FGFR2, PAX6, NKX2-5, CAPN3, PIK3R2, ACTN4, WRN, ZAP70, CDAN1, ZHX2, CPOX, LMNB1, LRP1, ARSA, MID1, GNPAT, CACNA1B, LHX3, AGXT, SYNJ1, CDKN1B, EIF4G1, COPA, KRT18, SLC9A3, HOXB13, UCHL1, HOXA2, IFNG, PRX, CSRP3, HTT, RELN, DVL1, COL4A2, TGFBR1, EP300, PSEN2, SLC4A1, AP1S1, THRB, ARHGEF6, MAX, COLEC11, MYO6, ZBTB16, NLRP1, EDN1, PCBD1, PCNA, CLN5, GLUD1, IQCB1, PTPRC, PSENEN, JAM3, PITX2, BMPR2, PLIN1, QARS, PLK4, RET, KCNJ11, GNA11, GJA1, PEX10, ACE, DYSF, AHSG, TBK1, USP9X, LDHA, VWF, PEX19, MECP2, MVK, MYLK, TGFB3, TGFB2, DNAJC6, CTLA4, LAMB3, MYO5B, NUP155, FOXP3, VPS35, SIX1, C1QA, CCND2, CNTN2, ELANE, PCDH15, PRKDC, HACE1, WNT5A, MRPL3, TBX5, IGF1R, TRPC3, C1QB, SEC63, ABCC2, ELN, SLC25A4, MPDZ, PLAU, PPP2R1B, ITGA7, NUP93, CCL2, COL6A2, SGSH, ITCH, UBQLN2, SELE, OGDH, LDB3, ITPR3, SERPINA1, TH, GNRH1, SNAP29, PLN, AXIN1, HGSNAT, POLR2F, GJB1, SUMF1, SAR1B, LCK, HESX1, FLNA, TUBA4A, DNAJC13, NR0B2, PSAP, LYZ, GJB2, ATR, ATXN2, NGF, CASP10, ATP1B1, RPL35A, SCN5A, AHCY, IRF3, HLA-B, NFKB1, FCGR2A, ORC1, GATA5, INSR, GALC, CARD11, HYAL1, MYLK2, TBXA2R, DLC1, AP5Z1, MSH2, TRIM28, PACS1, SPAST, DRD5, SNRNP200, NPHS1, LIFR, GLA, MYCN, PDGFRA, SCNN1A, L1CAM, CNBP, ZIC3, ATP5A1, FLNC, TBX6, PTEN, ZFHX3, DCC, ACO2, WDR45, DNAJC3, PRKACA, CBX2, CTSA, CFTR, MYH11, ADAM10, MTHFD1, SELP, CR2, PLCB4, KDR, MTRR, PORCN, TPM3, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Environmental Information ProcessingYesN3.11794e-150.631783

ATROPHODERMA VERMICULATUM, ROBINOW-SORAUF SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, KOWARSKI SYNDROME, USHER SYNDROME, TYPE 1D/F DIGENIC, USHER SYNDROME, TYPE 1D, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ACHONDROPLASIA, ?NEUTROPHILIA, HEREDITARY, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?IMMUNODEFICIENCY 39, DESMOID DISEASE, HEREDITARY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, DYSAUTONOMIA, FAMILIAL, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, HYPER-IGE RECURRENT INFECTION SYNDROME, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, CHOANAL ATRESIA AND LYMPHEDEMA, LARON DWARFISM, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, ALPHA-2-MACROGLOBULIN DEFICIENCY, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, COFFIN-LOWRY SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, PEPCK DEFICIENCY, MITOCHONDRIAL, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, INCONTINENTIA PIGMENTI, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, HYPERPROINSULINEMIA, HAJDU-CHENEY SYNDROME, SPINOCEREBELLAR ATAXIA 15, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, 46XY SEX REVERSAL 9, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, MICROVILLUS INCLUSION DISEASE, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CARDIOMYOPATHY, HYPERTROPHIC, 25, EHLERS-DANLOS SYNDROME, TYPE 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, ATRIAL SEPTAL DEFECT 9, BENIGN FAMILIAL HEMATURIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, EPIDERMOLYSIS BULLOSA, PRETIBIAL, SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE, BURKITT LYMPHOMA, PRADER-WILLI SYNDROME, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, HOLT-ORAM SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, NEUROFIBROMATOSIS, TYPE 1, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, [HEREDITARY PERSISTENCE OF ALPHA-FETOPROTEIN], EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, RETINITIS PIGMENTOSA 60, BRACHYDACTYLY, TYPE E2, HYPER-IGD SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, HYPOSPADIAS 1, X-LINKED, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, CLOVE SYNDROME, SOMATIC, UV-SENSITIVE SYNDROME 2, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MODY, TYPE III, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, OPSISMODYSPLASIA, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, MENTAL RETARDATION, X-LINKED 63, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, HEMOCHROMATOSIS TYPE 1, MALFORMATION OF THE HEART, SPLIT-HAND/FOOT MALFORMATION 4, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, CRANIOLENTICULOSUTURAL DYSPLASIA, MECONIUM ILEUS, TUBEROUS SCLEROSIS-1, FRAGILE X SYNDROME, LEBER CONGENITAL AMAUROSIS 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PEROXISOME BIOGENESIS DISORDER 11B, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE IA, PSEUDOHYPOALDOSTERONISM, TYPE IIC, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, ?FIBROMATOSIS, GINGIVAL, 1, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?CARDIOMYOPATHY, DILATED, 2A, NOONAN SYNDROME 7, DEAFNESS, AUTOSOMAL RECESSIVE 29, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, CAUDAL REGRESSION SYNDROME, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, MARFAN LIPODYSTROPHY SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, CARDIOMYOPATHY, DILATED, 1V, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MULTIPLE FIBROADENOMAS OF THE BREAST, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, RETINITIS PIGMENTOSA 62, OPTIC ATROPHY 1, ?SECKEL SYNDROME 6, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, NEMALINE MYOPATHY 5, AMISH TYPE, STORMORKEN SYNDROME, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, PIERSON SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, POLYDACTYLY, PREAXIAL, TYPE IV, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, ALAND ISLAND EYE DISEASE, PERIODIC FEVER, FAMILIAL, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, DYSTONIA 27, ACHROMATOPSIA-2, RENAL TUBULAR DYSGENESIS, ?SPINOCEREBELLAR ATAXIA 41, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, PSEUDOHYPOALDOSTERONISM, TYPE I, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ACETYL-COA CARBOXYLASE DEFICIENCY, AMYLOIDOSIS, FINNISH TYPE, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, LEGIUS SYNDROME, SEGAWA SYNDROME, RECESSIVE, IMMUNODEFICIENCY 36, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, SCLEROSTEOSIS 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 56, MUSCULAR DYSTROPHY, CONGENITAL, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 2}, LACTASE PERSISTENCE/NONPERSISTENCE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ADRENAL CORTICAL CARCINOMA, FRAGILE X TREMOR/ATAXIA SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, OROFACIAL CLEFT 11, CHUDLEY-MCCULLOUGH SYNDROME, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, KRABBE DISEASE, ATYPICAL, FIBROCHONDROGENESIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LOEYS-DIETZ SYNDROME 5, DEAFNESS, AUTOSOMAL DOMINANT 20/26, CORNEAL DYSTROPHY, GROENOUW TYPE I, ?N SYNDROME, BRACHYDACTYLY, TYPE B2, IRIDOGONIODYSGENESIS, TYPE 2, TRANSIENT BULLOUS OF THE NEWBORN, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, RETINITIS PIGMENTOSA 11, JOUBERT SYNDROME 5, DIABETES INSIPIDUS, NEPHROGENIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ERYTHROCYTOSIS, FAMILIAL, 3, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, IRIS HYPOPLASIA AND GLAUCOMA, IRIDOGONIODYSGENESIS, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, FACTOR XIIIA DEFICIENCY, ?MICROPHTHALMIA, SYNDROMIC 1, CRANIOSYNOSTOSIS, TYPE 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, FAILURE OF TOOTH ERUPTION, PRIMARY, RETINITIS PIGMENTOSA 70, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, PSEUDOACHONDROPLASIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, C2 DEFICIENCY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, DIARRHEA 6, SENIOR-LOKEN SYNDROME 4, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, LYMPHEDEMA, HEREDITARY, IA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ANGIOEDEMA, HEREDITARY, TYPE III, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, WAARDENBURG SYNDROME, TYPE 3, METATROPIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, {HASHIMOTO THYROIDITIS}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, FACTOR XII DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, CARDIOMYOPATHY, HYPERTROPHIC, 3, HARTSFIELD SYNDROME, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, OSTEOGENESIS IMPERFECTA, TYPE III, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, GREENBERG SKELETAL DYSPLASIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, VAN DER WOUDE SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PHELAN-MCDERMID SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, DEAFNESS, AUTOSOMAL DOMINANT 41, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, SICK SINUS SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OSSEOUS HETEROPLASIA, PROGRESSIVE, COMBINED SAP DEFICIENCY, IMMUNODEFICIENCY 11, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, PAPILLORENAL SYNDROME, COLD-INDUCED SWEATING SYNDROME 2, COLE-CARPENTER SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, ATRIAL SEPTAL DEFECT 5, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, USHER SYNDROME, TYPE 1F, IMMUNODEFICIENCY 14, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SMALL CELL CANCER OF THE LUNG, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, MEGALOCORNEA 1, X-LINKED, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, TRICHOHEPATOENTERIC SYNDROME 2, [BONE MINERAL DENSITY VARIABILITY 1], TANGIER DISEASE, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, PITUITARY ADENOMA, PROLACTIN-SECRETING, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FIBROCHONDROGENESIS 2, FRASIER SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 1, AGAMMAGLOBULINEMIA 4, ALPHA-FETOPROTEIN DEFICIENCY, 46,XX SEX REVERSAL, TYPE 2, CATARACT 6, MULTIPLE TYPES, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, CORNEAL DYSTROPHY, AVELLINO TYPE, MYHRE SYNDROME, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CUTIS LAXA, AD, BRACHYDACTYLY, TYPE A1, SPERMATOGENIC FAILURE 7, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, PSEUDOHYPOALDOSTERONISM, TYPE IIE, ESCOBAR SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, LONG QT SYNDROME-3, HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, ACUTE MYELOID LEUKEMIA, M6 TYPE, THROMBOCYTOPENIA 5, CONE-ROD DYSTROPHY 6, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MARSHALL SYNDROME, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, WOLFF-PARKINSON-WHITE SYNDROME, LYMPHEDEMA, HEREDITARY, ID, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, IMMUNODEFICIENCY 21, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, TOURETTE SYNDROME, {GILLES DE LA TOURETTE SYNDROME, SUSCEPTIBILITY TO}, CONE-ROD DYSTROPHY 2, GLUCOCORTICOID RESISTANCE, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, TRANSALDOLASE DEFICIENCY, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, GILLESPIE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, ?CATARACT 45, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MENTAL RETARDATION, X-LINKED 99, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, VON WILLEBRAND DISEASE, PLATELET-TYPE, ?DEAFNESS, AUTOSOMAL DOMINANT 68, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, HUNTINGTON DISEASE, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, CEREBRAL CAVERNOUS MALFORMATIONS-2, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, NEPHROTIC SYNDROME, TYPE 8, DYSTONIA-12, MENTAL RETARDATION, X-LINKED 96, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HEREDITARY PYROPOIKILOCYTOSIS, GLYCOGEN STORAGE DISEASE 0, MUSCLE, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, MENTAL RETARDATION, X-LINKED 41, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, DEAFNESS, AUTOSOMAL RECESSIVE 30, DEAFNESS, AUTOSOMAL DOMINANT 3A, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, MODY, TYPE I, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), ?MYOSCLEROSIS, CONGENITAL, PLATELET GLYCOPROTEIN IV DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, EPISODIC ATAXIA, TYPE 6, SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 10, ECTOPIA LENTIS, FAMILIAL, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, {PARKINSON DISEASE 18}, PSEUDOHYPOALDOSTERONISM, TYPE IIB, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, DEAFNESS, AUTOSOMAL RECESSIVE 48, SPONDYLOCOSTAL DYSOSTOSIS 5, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, HAMAMY SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SPINOCEREBELLAR ATAXIA 42, IMMUNODEFICIENCY 46, MYOGLOBINURIA, RECURRENT, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, DENT DISEASE 2, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, ENHANCED S-CONE SYNDROME, SUPRANUCLEAR PALSY, PROGRESSIVE, RETINITIS PIGMENTOSA-40, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, LONG QT SYNDROME 15, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 38, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, SPECIFIC GRANULE DEFICIENCY, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, CARASIL SYNDROME, VAN BUCHEM DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, MULTIPLE SYNOSTOSES SYNDROME 1, ?REYNOLDS SYNDROME, ?STEEL SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, TRICHOMEGALY, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, LEUKODYSTROPHY, HYPOMYELINATING, 11, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, MICROPHTHALMIA, SYNDROMIC 2, MULTIPLE ENDOCRINE NEOPLASIA IIA, SICK SINUS SYNDROME 2, LARSEN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, C3 DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, CARDIOMYOPATHY, HYPERTROPHIC, 18, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFRONTONASAL DYSPLASIA, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, NAXOS DISEASE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1B, AUTOSOMAL RECESSIVE, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, CARPENTER SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, HAY-WELLS SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, IMMUNODEFICIENCY 12, INFANTILE NEUROAXONAL DYSTROPHY 1, CULLER-JONES SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, CREATINE PHOSPHOKINASE, ELEVATED SERUM, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE IA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, ?WEBB-DATTANI SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, PARKINSON DISEASE, JUVENILE, TYPE 2, ELLIPTOCYTOSIS-2, EIKEN SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOKALEMIC PERIODIC PARALYSIS 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, IMMUNODEFICIENCY, COMMON VARIABLE, 5, VENTRICULAR TACHYCARDIA, IDIOPATHIC, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, NAIL-PATELLA SYNDROME, IMAGE SYNDROME, CHERUBISM, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, CORTICAL MALFORMATIONS, OCCIPITAL, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, ABCD SYNDROME, THROMBOCYTHEMIA 2, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, STICKLER SYNDROME, TYPE III, AGAMMAGLOBULINEMIA 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), AMELOGENESIS IMPERFECTA, TYPE IH, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, HOLOPROSENCEPHALY-5, IMMUNODEFICIENCY 24, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WEILL-MARCHESANI SYNDROME 2, DOMINANT, TYROSINEMIA, TYPE II, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, CONE-ROD DYSTROPHY, X-LINKED, 3, NIJMEGEN BREAKAGE SYNDROME, TREACHER COLLINS SYNDROME 2, BLAU SYNDROME, SPINOCEREBELLAR ATAXIA 14, D-BIFUNCTIONAL PROTEIN DEFICIENCY, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, ARTHROGRYPOSIS, DISTAL, TYPE 8, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, PYCNODYSOSTOSIS, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PULMONARY HYPERTENSION, PRIMARY, 2, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, BRACHYDACTYLY, TYPE C, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CARDIOMYOPATHY, DILATED, 1NN, ?MULTIPLE SYNOSTOSES SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, CILIARY DYSKINESIA, PRIMARY, 33, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, HEMOCHROMATOSIS, TYPE 2B, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4, BRACHYDACTYLY, TYPE A1, C, ICHTHYOSIS VULGARIS, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, NOONAN SYNDROME 9, DENYS-DRASH SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 2, TOOTH AGENESIS, SELECTIVE, 7, SEBASTIAN SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, TARSAL-CARPAL COALITION SYNDROME, FRAXE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, BEHR SYNDROME, MYOPATHY, TUBULAR AGGREGATE, 2, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, METACARPAL 4-5 FUSION, SYMPHALANGISM, PROXIMAL, 1A, LI-FRAUMENI SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, RETINITIS PIGMENTOSA 37, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, KNOBLOCH SYNDROME 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, VENTRICULAR SEPTAL DEFECT 3, {MELANOMA, CUTANEOUS MALIGNANT, 3}, IMMUNODEFICIENCY 30, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, OVARIAN DYSGENESIS 1, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, GLYCOGEN STORAGE DISEASE VII, ?IMMUNODEFICIENCY 22, COLOBOMA, OCULAR, APPARENT MINERALOCORTICOID EXCESS, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, MENTAL RETARDATION, X-LINKED 19, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, KOSAKI OVERGROWTH SYNDROME, EPITHELIAL RECURRENT EROSION DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, CEROID LIPOFUSCINOSIS, NEURONAL, 3, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LEUKODYSTROPHY, HYPOMYELINATING, 9, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, {OROFACIAL CLEFT 6}, GALLBLADDER DISEASE 1, RETT SYNDROME, CONGENITAL VARIANT, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ?CANDIDIASIS, FAMILIAL, 8, NEUROFIBROMATOSIS, TYPE 2, HYPEREKPLEXIA HEREDITARY, LEGG-CALVE-PERTHES DISEASE, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, ACHROMATOPSIA-3, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, CEROID LIPOFUSCINOSIS, NEURONAL, 11, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, CARDIOMYOPATHY, DILATED, 1U, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, WAARDENBURG SYNDROME, TYPE 4A, ?OSTEOGENESIS IMPERFECTA, TYPE X, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CONGENITAL DIAPHRAGMATIC HERNIA, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), ALZHEIMER DISEASE, TYPE 4, IMMUNODEFICIENCY 43, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, TOENAIL DYSTROPHY, ISOLATED, CARDIOMYOPATHY, DILATED, 1HH, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, MECKEL SYNDROME 10, ESSENTIAL HYPERTENSION, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, PARKINSON DISEASE 1, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, TRANSCOBALAMIN II DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, TEMPLE-BARAITSER SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {BLEPHAROSPASM, PRIMARY BENIGN}, STIFF SKIN SYNDROME, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, BEARE-STEVENSON CUTIS GYRATA SYNDROME, AL-RAQAD SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, ?DYSTONIA, JUVENILE-ONSET, VISCERAL MYOPATHY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, MIRROR MOVEMENTS 1, ODONTOONYCHODERMAL DYSPLASIA, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, ALPORT SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, HOLOPROSENCEPHALY 11, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, 46XY SEX REVERSAL 6, MAY-HEGGLIN ANOMALY, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, PORENCEPHALY 2, ACROMICRIC DYSPLASIA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, NEPHROTIC SYNDROME, TYPE 3, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, RETINITIS PIGMENTOSA 41, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, EXOSTOSES, MULTIPLE, TYPE 2, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, IMMUNODEFICIENCY 9, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, ADENYLOSUCCINASE DEFICIENCY, ?IMMUNODEFICIENCY 37, ATELEIOTIC DWARFISM, INTERSTITIAL LUNG AND LIVER DISEASE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MYOPATHY, DISTAL, 4, STICKLER SYNDROME, TYPE I, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, HUTCHINSON-GILFORD PROGERIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SPINOCEREBELLAR ATAXIA 28, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AURICULOCONDYLAR SYNDROME 3, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, GLYCOGEN STORAGE DISEASE XII, APLASIA OF LACRIMAL AND SALIVARY GLANDS, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, PROGRESSIVE MYOCLONUS EPILEPSY WITH ATAXIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, MYXOMA, INTRACARDIAC, ATRIAL FIBRILLATION, FAMILIAL, 12, ?SPASTIC PARAPLEGIA 63, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MISMATCH REPAIR CANCER SYNDROME, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, 46XY SEX REVERSAL 7, MUSCLE GLYCOGENOSIS, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, VESICOURETERAL REFLUX 3, BRUCK SYNDROME 2, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, PITT-HOPKINS-LIKE SYNDROME 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MULTIPLE ENDOCRINE NEOPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, IVIC SYNDROME, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, CAFFEY DISEASE, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, THROMBOCYTHEMIA 3, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, ALZHEIMER DISEASE-2, IMMUNODEFICIENCY 33, OTOPALATODIGITAL SYNDROME, TYPE I, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CORNELIA DE LANGE SYNDROME 3, SED CONGENITA, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), LYMPHOPROLIFERATIVE SYNDROME 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {LEPROSY, SUSCEPTIBILITY TO}, EXUDATIVE VITREORETINOPATHY 4, DEAFNESS, AUTOSOMAL RECESSIVE 24, VOHWINKEL SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, LISSENCEPHALY 3, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, INFANTILE MYOFIBROMATOSIS 1, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, BLEEDING DISORDER, PLATELET-TYPE, 11, DIABETES INSIPIDUS, NEPHROGENIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LARYNGOONYCHOCUTANEOUS SYNDROME, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, TIETZ ALBINISM-DEAFNESS SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MAST CELL DISEASE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RETINAL CONE DYSTROPHY 4, ATAXIA-OCULOMOTOR APRAXIA 3, LADD SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 10, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, [SHORT SLEEPER], ATELOSTEOGENESIS, TYPE III, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, {PARKINSON DISEASE 8}, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LONG QT SYNDROME 12, RETINITIS PIGMENTOSA, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, PORENCEPHALY 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, ?PROGESTERONE RESISTANCE, EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 2, MANDIBULOACRAL DYSPLASIA, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, SPINOCEREBELLAR ATAXIA 27, IMMUNODEFICIENCY 35, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, VAN BUCHEM DISEASE, TYPE 2, COMBINED HYPERLIPIDEMIA, FAMILIAL, BRUGADA SYNDROME 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MENTAL RETARDATION, X-LINKED 102, CATARACT 16, MULTIPLE TYPES, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, SPLIT-HAND/FOOT MALFORMATION 6, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], CARDIOMYOPATHY, HYPERTROPHIC, 4, ?TETRA-AMELIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, LEBER CONGENITAL AMAUROSIS 17, WAARDENBURG SYNDROME, TYPE 4C, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, PELGER-HUET ANOMALY, KLEEFSTRA SYNDROME, [URIC ACID CONCENTRATION, SERUM, QTL1], TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ENDOCRINE-CEREBROOSTEODYSPLASIA, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, CORNEAL DYSTROPHY, SCHNYDER TYPE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I, ATRIAL SEPTAL DEFECT 2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AGAMMAGLOBULINEMIA 1, BRACHYDACTYLY, TYPE A2, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, CARPAL TUNNEL SYNDROME, FAMILIAL, IMMUNODEFICIENCY, COMMON VARIABLE, 13, CARDIOMYOPATHY, HYPERTROPHIC, 2, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, GROWTH HORMONE INSENSITIVITY, PARTIAL, POROKERATOSIS 3, MULTIPLE TYPES, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, HYPERLYSINEMIA, LIPOPROTEIN LIPASE DEFICIENCY, XERODERMA PIGMENTOSUM, VARIANT TYPE, DICARBOXYLIC AMINOACIDURIA, SMITH-MAGENIS SYNDROME, DEAFNESS, X-LINKED 5, METACHONDROMATOSIS, SACCHAROPINURIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SED, MAROTEAUX TYPE, TARP SYNDROME, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, ECTOPIA LENTIS ET PUPILLAE, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, OSTEOGENESIS IMPERFECTA, TYPE XVII, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY, DEAFNESS, AUTOSOMAL DOMINANT 13, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, HETEROTOPIA, PERIVENTRICULAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, ?RETINITIS PIGMENTOSA 67, GLYCOGEN STORAGE DISEASE VI, AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, MYOTONIC DYSTROPHY 1, COMPLEMENT FACTOR D DEFICIENCY, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, EPIDERMOLYSIS BULLOSA PRURIGINOSA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, MACHADO-JOSEPH DISEASE, AMINOACYLASE 1 DEFICIENCY, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DUANE-RADIAL RAY SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, WIEDEMANN-STEINER SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 37, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, HEMOCHROMATOSIS, TYPE 2A, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, {AUTISM, SUSCEPTIBILITY TO, 18}, CENANI-LENZ SYNDACTYLY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, CARDIOMYOPATHY, DILATED, 1E, OLIGODONTIA-COLORECTAL CANCER SYNDROME, DIAMOND-BLACKFAN ANEMIA 8, CARDIOMYOPATHY, HYPERTROPHIC, 12, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, PRIMARY PULMONARY HYPERTENSION, [BLOOD GROUP, DUFFY SYSTEM], COFFIN-SIRIS SYNDROME 3, RHEUMATOID ARTHRITIS, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), CYLINDROMATOSIS, FAMILIAL, EPIDERMAL NEVUS, HYPOMAGNESEMIA 6, RENAL, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, ?OSTEOGENESIS IMPERFECTA, TYPE XII, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NON-IMMUNE HYDROPS FETALIS, ?IMMUNODEFICIENCY 25, EVEN-PLUS SYNDROME, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, MODY, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LAMB-SHAFFER SYNDROME, CRYPTORCHIDISM, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, ACNE INVERSA, FAMILIAL, 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, SPONDYLOPERIPHERAL DYSPLASIA, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DYSTONIA 25, ?MYASTHENIC SYNDROME, CONGENITAL, 17, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, HYPOCHONDROPLASIA, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, SPINOCEREBELLAR ATAXIA 17, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ?PRUNE BELLY SYNDROME, CORNEAL FLECK DYSTROPHY, DEAFNESS, AUTOSOMAL RECESSIVE 53, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CEREBELLOFACIODENTAL SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, SESAME SYNDROME, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, IMMUNODEFICIENCY 42, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, CHONDRODYSPLASIA, GREBE TYPE, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, ATRIAL FIBRILLATION, FAMILIAL, 6, SEA-BLUE HISTIOCYTE DISEASE, XERODERMA PIGMENTOSUM, GROUP D, BRODY MYOPATHY, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, PEUTZ-JEGHERS SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, FECHTNER SYNDROME, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, ATRANSFERRINEMIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, MEVALONIC ACIDURIA, GINGIVAL FIBROMATOSIS WITH HYPERTRICHOSIS, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MOYAMOYA 6 WITH ACHALASIA, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, BOOMERANG DYSPLASIA, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, CD8 DEFICIENCY, FAMILIAL, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2, FOVEAL HYPOPLASIA 1, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, AURICULOCONDYLAR SYNDROME 2, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, LIMB-MAMMARY SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ACROCAPITOFEMORAL DYSPLASIA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, BRACHYDACTYLY, TYPE A1, D, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SERKAL SYNDROME, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, OSTEOGENESIS IMPERFECTA, TYPE I, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, POLYCYTHEMIA VERA, SOMATIC, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, OCULOECTODERMAL SYNDROME, GLYCOGEN STORAGE DISEASE IXC, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ALCOHOL DEPENDENCE, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, TRYPSINOGEN DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, LEUKODYSTROPHY, HYPOMYELINATING, 12, CARDIOMYOPATHY, DILATED, 1JJ, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, DEAFNESS, AUTOSOMAL RECESSIVE 70, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, ALAGILLE SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 2, PLASMA FIBRONECTIN DEFICIENCY, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, LIDDLE SYNDROME, PHYTANIC ACID STORAGE DISEASE, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, MUIR-TORRE SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, ATRIOVENTRICULAR SEPTAL DEFECT 5, {PARKINSON DISEASE 17}, RENAL ADYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, ACNE INVERSA, FAMILIAL, 2, SPERMATOGENIC FAILURE 8, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, RING DERMOID OF CORNEA, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HETEROTAXY, VISCERAL, 5, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, SPINOCEREBELLAR ATAXIA 5, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ADAMS-OLIVER SYNDROME 6, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, {NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO}, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SUPRAVALVAR AORTIC STENOSIS, EPISODIC ATAXIA, TYPE 2, ACNE INVERSA, FAMILIAL, 3, {GLIOMA SUSCEPTIBILITY 9}, TRIGONOCEPHALY 1, BARDET-BIEDL SYNDROME 16, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, GLIOMA SUSCEPTIBILITY 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, PERRY SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, ?IMMUNODEFICIENCY 16, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PREMATURE OVARIAN FAILURE 7, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PITUITARY DEPENDENT HYPERCORTISOLISM, SPINOCEREBELLAR ATAXIA 36, AMELOGENESIS IMPERFECTA, TYPE IA, URBACH-WIETHE DISEASE, COWCHOCK SYNDROME, KERATOSIS, SEBORRHEIC, SOMATIC, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, KEUTEL SYNDROME, SPINOCEREBELLAR ATAXIA 6, GALACTOSIALIDOSIS, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, HYPOMAGNESEMIA 2, RENAL, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, OSTEOGLOPHONIC DYSPLASIA, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CORNELIA DE LANGE SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, QUESTION MARK EARS, ISOLATED, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, AURICULOCONDYLAR SYNDROME 1, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, MACROCEPHALY/AUTISM SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, OSTEOGENESIS IMPERFECTA, TYPE XIII, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MYOFIBROMATOSIS, INFANTILE 2, DARIER DISEASE, [SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN], [SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN], {UV-INDUCED SKIN DAMAGE}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, AMYOTROPHIC LATERAL SCLEROSIS 8, AGAMMAGLOBULINEMIA 6, GLAUCOMA 1, OPEN ANGLE, E, WAGNER SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, PARIETAL FORAMINA 1, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ALEXANDER DISEASE, CATARACT 21, MULTIPLE TYPES, TREACHER COLLINS SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, NEPHROTIC SYNDROME, TYPE 12, MENTAL RETARDATION, X-LINKED 90, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, DIAMOND-BLACKFAN ANEMIA 7, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, {ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO}, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HERMANSKY-PUDLAK SYNDROME 7, ?GLYCOGEN STORAGE DISEASE XIII, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, AMYOTROPHIC LATERAL SCLEROSIS 20, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, DEAFNESS, DIGENIC GJB2/GJB6, DEAFNESS, AUTOSOMAL RECESSIVE 1A, DEAFNESS, DIGENIC, GJB2/GJB3, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, SELECTIVE T-CELL DEFECT, MULTIPLE ENDOCRINE NEOPLASIA IIB, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, PULMONARY VENOOCCLUSIVE DISEASE 1, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, DYSTONIA-11, MYOCLONIC, CANDIDIASIS, FAMILIAL, 9, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, FRONTOTEMPORAL DEMENTIA, POROKERATOSIS 7, MULTIPLE TYPES, ?RETINAL ARTERIES, TORTUOSITY OF, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, OGDEN SYNDROME, NEUTROPENIA, CYCLIC, MACULAR DYSTROPHY, RETINAL, 2, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, BECKWITH-WIEDEMANN SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, SECKEL SYNDROME 1, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, AORTIC ANEURYSM, FAMILIAL THORACIC 8, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, SYNDACTYLY, TYPE III, IMMUNODEFICIENCY 44, FAMILIAL COLORECTAL CANCER, OVARIAN HYPERSTIMULATION SYNDROME, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, KEPPEN-LUBINSKY SYNDROME, ?DYSTONIA 23, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, TYROSINEMIA, TYPE I, NOONAN SYNDROME 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, LIANG DISTAL MYOPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 6, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, KERATITIS, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, RETINITIS PIGMENTOSA 45, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, GLAUCOMA 1A, PRIMARY OPEN ANGLE, EXUDATIVE VITREORETINOPATHY 1, TOOTH AGENESIS, SELECTIVE, 1, WITH OR WITHOUT OROFACIAL CLEFT, CARDIOMYOPATHY, DILATED, 1A, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, MYOPATHY, DISTAL, TATEYAMA TYPE, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, DYSTONIA-PARKINSONISM, X-LINKED, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, ROUSSY-LEVY SYNDROME, LEUKEMIA, CHRONIC MYELOID, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 39, IMMUNODEFICIENCY, COMMON VARIABLE, 4, OSTEOGENESIS IMPERFECTA, TYPE XV, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PICK DISEASE, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, BRACHYOLMIA TYPE 3, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, PROSTATE CANCER 1, ?NARCOLEPSY 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ANEMIA, SIDEROBLASTIC, 4, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, ATELOSTEOGENESIS, TYPE I, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, NEUROPATHY, INFLAMMATORY DEMYELINATING, WEAVER SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7, WAARDENBURG SYNDROME, TYPE 2D, ATRIAL SEPTAL DEFECT 6, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, HEPATIC ADENOMA, SOMATIC, CORNEAL DYSTROPHY, CONGENITAL STROMAL, NEUROPATHY, RECURRENT, WITH PRESSURE PALSIES, BART-PUMPHREY SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MEIER-GORLIN SYNDROME 5, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, RENAL CYSTS AND DIABETES SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, SVEINSSON CHOREORETINAL ATROPHY, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, RETICULATE ACROPIGMENTATION OF KITAMURA, TOOTH AGENESIS, SELECTIVE, 4, BROOKE-SPIEGLER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, LONG QT SYNDROME 14, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, DYSTONIA 9, MYELOPEROXIDASE DEFICIENCY, STICKLER SYNDROME, TYPE II, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, OPTIC ATROPHY PLUS SYNDROME, LACTASE DEFICIENCY, CONGENITAL, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CLEFT PALATE, ISOLATED, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, AVASCULAR NECROSIS OF THE FEMORAL HEAD, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, DEAFNESS, AUTOSOMAL DOMINANT 64, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CORNELIA DE LANGE SYNDROME 2, ROBINOW SYNDROME, CHOPS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOTRICHOSIS 8, AORTIC ANEURYSM, FAMILIAL THORACIC 6, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, CARDIOMYOPATHY, HYPERTROPHIC, 11, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, HOLOPROSENCEPHALY-3, ERYTHROCYTOSIS, FAMILIAL, 2, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, HYPOBETALIPOPROTEINEMIA, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, AICARDI-GOUTIERES SYNDROME 6, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, HEART-HAND SYNDROME, SLOVENIAN TYPE, TUMOR PREDISPOSITION SYNDROME, OVARIAN RESPONSE TO FSH STIMULATION, NEUROCUTANEOUS MELANOSIS, SOMATIC, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], LOEYS-DIETZ SYNDROME 4, ACROKERATOSIS VERRUCIFORMIS, REVESZ SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CAMURATI-ENGELMANN DISEASE, PCWH SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, POPLITEAL PTERYGIUM SYNDROME 1, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PARKINSON DISEASE 19, JUVENILE-ONSET, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, DEJERINE-SOTTAS DISEASE, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, PARASTREMMATIC DWARFISM, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, AORTIC VALVE DISEASE 2, DEAFNESS, AUTOSOMAL RECESSIVE 68, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), GIANT AXONAL NEUROPATHY-1, USHER SYNDROME, TYPE 1G, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, PEROXISOME BIOGENESIS DISORDER 2B, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPLENIC HYPOPLASIA, CAPOS SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, DIAMOND-BLACKFAN ANEMIA 6, ENCEPHALOPATHY, NEONATAL SEVERE, FILS SYNDROME, [FLECK RETINA, FAMILIAL BENIGN], HYPOPLASTIC LEFT HEART SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, SCLEROSTEOSIS 2, HYPOPHOSPHATEMIC RICKETS, AR, AXENFELD-RIEGER SYNDROME, TYPE 1, SENIOR-LOKEN SYNDROME 6, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, {AUTISM SUSCEPTIBILITY, X-LINKED 2}, MENTAL RETARDATION, X-LINKED, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, LEFT VENTRICULAR NONCOMPACTION 7, COFFIN-SIRIS SYNDROME 4, DEAFNESS, AUTOSOMAL RECESSIVE 35, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, PREMATURE OVARIAN FAILURE 1, CORNELIA DE LANGE SYNDROME 1, {EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO}, {EPILEPSY, IDIOPATHIC GENERALIZED, 10}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, AMYOTROPHIC LATERAL SCLEROSIS 21, ?SPINOCEREBELLAR ATAXIA 26, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, ?CATARACT 30, PULVERULENT, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 2}, SMED STRUDWICK TYPE, WATSON SYNDROME, NEPHROTIC SYNDROME, TYPE 4, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SORSBY FUNDUS DYSTROPHY, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MASA SYNDROME, CRASH SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, HUNTINGTON DISEASE-LIKE 2, BRACHYDACTYLY, TYPE B1, ACHROMATOPSIA 7, CARDIOMYOPATHY, HYPERTROPHIC, 7, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, EPISODIC ATAXIA, TYPE 5, THANATOPHORIC DYSPLASIA, TYPE II, HYPERPARATHYROIDISM 1, {OBESITY, SEVERE, SUSCEPTIBILITY TO, BMIQ9}, FRASER SYNDROME, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, [NOVELTY SEEKING PERSONALITY], MYOPATHY, MYOFIBRILLAR, 2, VESICOURETERAL REFLUX 8, MYOPATHY, TUBULAR AGGREGATE, 1, HERMANSKY-PUDLAK SYNDROME 1, USHER SYNDROME, TYPE IJ, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, ?HYPERPROLACTINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, EBD, BART TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, PSEUDOHYPOPARATHYROIDISM IC, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 23, {MACULAR DEGENERATION, AGE-RELATED, 2}, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 1}, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, SPHEROCYTOSIS, TYPE 3, NEPHRONOPHTHISIS 4, DU PAN SYNDROME, IRIS HYPOPLASIA AND GLAUCOMA, LIEBENBERG SYNDROME, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, HYPERFERRITINEMIA-CATARACT SYNDROME, PYRUVATE KINASE DEFICIENCY, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, CATSHL SYNDROME, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, ?TRICHOTILLOMANIA, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, LYNCH SYNDROME I, JACKSON-WEISS SYNDROME, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FACTOR X DEFICIENCY, SPLIT-HAND/FOOT MALFORMATION 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, SCHOPF-SCHULZ-PASSARGE SYNDROME, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, ?DEAFNESS, X-LINKED 6, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, CHOREA, HEREDITARY BENIGN, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, GLYCOGEN STORAGE DISEASE 0, LIVER, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, KNIEST DYSPLASIA, OPTIC NERVE HYPOPLASIA, HERMANSKY-PUDLAK SYNDROME 9, HYPERPARATHYROIDISM, NEONATAL, CALCIUM OXALATE UROLITHIASIS, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, SECKEL SYNDROME 9, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, PARKINSON DISEASE 20, EARLY-ONSET, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, ?PRECOCIOUS PUBERTY, CENTRAL, 1, MALONYL-COA DECARBOXYLASE DEFICIENCY, WOLCOTT-RALLISON SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, LEUKOCYTE ADHESION DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2, HYPOPHOSPHATASIA, CHILDHOOD, CRANIOSYNOSTOSIS, TYPE 1, PAGET DISEASE OF BONE 3, DEAFNESS, AUTOSOMAL RECESSIVE 84A, THROMBOCYTOPENIA 4, UTERINE LEIOMYOMA, CRANIOSYNOSTOSIS 6, MECKEL SYNDROME 4, MYOTONIC DYSTROPHY 2, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEPHROTIC SYNDROME, TYPE 6, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE, DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

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CALM1, TSC2, DCPS, LRPAP1, LAMB1, SQSTM1, PITX1, RASGRP2, VARS2, PDE4D, PKD1, CD3E, GP1BA, GNA11, LBR, GNAS, CIITA, CNGB1, COL3A1, TECR, CR2, RPL5, FTL, PHEX, KRIT1, A2M, HDC, SOX2, CD82, CASR, PTPRO, UBA1, CDC6, CHD8, PAFAH1B1, GNRHR, LYZ, B2M, LHCGR, PGR, PTPN14, NOG, HSPB1, DST, ITGA3, IL1B, RAB7A, JPH1, ITGA2B, ADRB2, GAS8, HLA-DQA1, G6PC, FZD4, WNK1, MS4A1, OPTN, ASPM, PRKCH, GFI1B, GYS2, ATN1, ACTC1, SALL1, NGF, PTPRQ, BCKDHA, MAFB, GAS1, AQP2, SMARCA2, VLDLR, ERBB2, TNFRSF10B, KL, NFKB2, AXIN2, RASSF1, TEAD1, FAS, CNGB3, PHKA2, CALCR, AR, ENO3, THBS4, CD79A, CUL3, DNMT3A, THRA, GNB3, DAG1, FSHB, TBX19, HCN4, ADCY1, BLK, CASK, HMGA1, PTH, GABBR2, LAMA1, AGRP, PIK3CD, POLH, AGRN, SCNN1G, AIFM1, CBL, TBX5, NCSTN, GABRG2, CCND1, TALDO1, JAK2, ANK1, SPARC, SHANK3, PFKM, JUP, MIB1, ITPR1, BMP1, VEGFC, HSPD1, ROR2, CD36, TUBGCP4, NKX2-5, ABCD4, NTF3, KRAS, RYR1, TNNT2, GPD1, RELN, HTR2A, ADRB3, FXYD2, KMT2A, DUSP6, TYK2, SMC3, SYN2, MT-CO1, GATA1, TAB2, TGFBR1, ALDOA, CHRDL1, IMPAD1, GNAI3, CTNNB1, IL2RA, HMMR, SUFU, AP4M1, CDAN1, NLGN3, LRRK2, DVL3, CSF2RB, INPP5E, PRKG1, CEP290, TRAPPC2, FOXC1, HDAC6, TNFSF11, HBA1, LEP, LAMA3, HRG, SOX9, GP6, NKX2-1, HES7, CHRNA1, OSMR, AKT1, RIPK4, KAT5, AIP, PPIB, AKAP10, SIPA1L3, PRKCD, COL1A1, UBE3A, TNFRSF4, DYRK1A, SPTBN2, COL4A3BP, TNFRSF11A, ZNF423, HGF, GRIK2, TWIST1, KIF11, PCK2, CSNK1D, TUBA1A, EDAR, NOTCH3, HSPA9, EFNB1, PLCB4, RAF1, GH1, BCR, HAMP, SCGB1A1, NOD2, PSTPIP1, CC2D1A, MTM1, COL6A3, PER2, TTC19, SART3, POLA1, GRM6, TAT, EIF2B1, ZFPM2, PAX7, ITK, SLC9A1, GNAO1, IKZF1, AQP5, PYGL, TUBG1, HTR1A, INPPL1, KNG1, ADAM10, LAMA2, SEC23A, NONO, PCDH15, MSX2, LPL, SOS2, GATA4, EGLN1, SPG7, PHKG2, RARS, STXBP1, SPRY4, SLC9A3, MT-CO2, EPHA2, EDN1, FLT3, HLA-B, COL5A2, WNT10A, ABCA12, RANBP2, CXCR4, RASA1, PTPRC, COL4A3, FLG, SALL4, EDARADD, ANK3, PLOD2, HLA-DQB1, BDNF, CALR, TBP, CTCF, MLYCD, IFNGR1, GHRL, EPS8, ATXN3, CNBP, POLR3B, CSRP3, ALB, ATF6, FGF10, TSC1, CNGA1, MALT1, TAP2, FGF5, PCK1, DMPK, WNT10B, MAD1L1, GPI, PEX14, TRIM32, CYBA, PLCB1, IRX5, TRAIP, CNTNAP1, MMP1, MAP2K2, NAA10, VPS11, MTNR1B, WNT7A, GRN, MEF2A, PSEN1, JPH3, ALPL, DNM1, GFAP, TNXB, GPSM2, ZIC1, CDKN1B, CCT5, BMP4, CEBPE, ECHS1, CDK4, DCX, GJA1, G6PC3, HNRNPK, FGA, MYH7, FGF23, MYO1E, WT1, ERBB4, COL4A5, IKBKAP, NPR2, PROK2, GDF5, DES, CYCS, TGFBI, FADD, KCNJ11, PTPN1, PRF1, ACY1, CDC73, CACNB4, CACNA1D, RXFP2, MITF, KCNMB1, FOXN1, MYH3, CAPN3, EPHB2, TEK, MVD, ASCC1, NR2E3, ISG15, GNAI2, IL2RG, CD81, RYR2, SF3B4, SBF1, AURKA, VAPB, TGFB2, LRP6, CNTN2, ABCA7, GABRA1, HLA-C, SERPINA1, GABRD, CREBBP, GUCY2D, SHOC2, SP7, TRPV4, HOMER2, IL12B, ZIC2, PKLR, GRID2, ATP2A1, MYO5A, CABP4, MXI1, IL11RA, ATP2B3, NPM1, EDNRA, ECM1, MEF2C, NR2F2, SCARB2, EGR2, IL12RB1, CFL2, COPA, AFF4, CRB1, MYO18B, KIF5C, COL17A1, B9D2, PRKACG, TRAF3IP2, CD247, SPRED1, RBM10, MC2R, CDH3, LRP5, PIKFYVE, TIMP3, MEN1, GDNF, CACNA1A, RBPJ, TF, PRICKLE2, IGFBP7, FANCA, GLRA1, RB1, TNFRSF13B, AICDA, STX11, GRIN2A, GPHN, ACTA2, ADD1, SNAP25, NDUFS3, DMD, MC1R, SOS1, NCF1, STIM1, SMAD6, DPH1, HRAS, TSG101, PHKB, BLNK, C2, ADAR, BHLHE41, TPI1, F13A1, FLT4, SMAD9, GRM1, MYBPC3, NEUROD1, KLC2, GRIP1, EEF2, ABCG5, ITPR3, AASS, BMP2, COL4A4, TNFAIP3, POMC, DLL3, ALOX5, F10, HSD11B2, NDN, SMC1A, PIK3R5, AKAP9, DRD2, EIF4G1, VDR, FGFR1, ASCL1, DVL1, P2RX1, PARK2, APOA1, TP53, CNGA3, EGFR, SOX18, HCFC1, NCF2, LRP2, IKBKB, MFN2, ARL6IP1, VPS33B, MAPK8IP1, SNTA1, MET, TNFRSF11B, VANGL2, ATP2B2, HAX1, KCNQ2, HK1, NF1, TJP2, NT5C2, UMOD, KCNH1, MAF, BCL10, ESRRB, TUBB2A, ITGA6, KIT, TLR2, MPDZ, TCAP, CLCF1, POLD1, LCK, SH2B3, IRF5, DLG3, CHRNE, ZAP70, KCNMA1, NODAL, PPP2R5D, PDHX, IL7R, XPR1, TRAC, ACTG1, ATP2A2, FOXG1, MRPL3, KCNJ10, RORC, ITGB4, P4HB, SOST, PRPF6, GATA6, RRAS2, DDX58, TACR3, SPTLC1, STAT1, APPL1, EXOC8, TUBA4A, CACNA1C, ATXN1, SLC34A1, KCNJ8, NOTCH2, SLC2A4, LCT, NUP214, UQCRC2, PLA2G2A, DNMT1, LRP4, ACTN4, TINF2, IL6, DCN, PIK3R1, PHB, CRYAB, PCSK9, ADAMTSL4, NEFL, POLR1C, SLC9A3R1, CHRNB1, ACTN1, FOXF1, FLNB, VPS35, FTH1, PDE3A, CD8A, AP2S1, WNT4, RNASEL, DRD3, MGP, PTPRF, ALOXE3, SMAD3, CHRNA2, SLC25A20, ADAM17, HSPG2, TNF, CFD, NDUFS2, ODC1, SCRIB, SERPINE1, IL21, ATIC, STAR, ERBB3, DYRK1B, C3AR1, ADRA2B, F2, TNNI3, SPTA1, CTNNA1, PRPF31, IGBP1, ADSL, IL10RB, RAD21, SCNN1A, TPM1, AKT3, WAS, PHYH, CDK6, IKBKG, WNK4, CTSA, MSX1, PLCD1, DEAF1, MUC1, NRXN1, CYP11B2, PARK7, MAG, AGT, IGKC, MCM6, KCNJ6, TAF6, CDK5, CTNNA3, PPP1R3A, KDM1A, SNCA, NPHP4, CDH1, BTK, APOB, ZEB2, PDCD1, PAK3, NEB, FRZB, STK11, FGF17, MYO3A, IL10, SELP, LIPE, IGHM, IL21R, CDKN1C, BCOR, COL2A1, CACNB2, KRT8, FBP1, FGF3, FGFR4, COL10A1, NOP56, PIK3CA, ABCD1, GNAL, GABRA2, BMPER, PRKCG, JAG1, HNRNPA1, GFPT1, CD59, POT1, FZD6, SLITRK1, PRKAG2, GATA3, PEX13, ACOX1, BAP1, CTSD, MUSK, ARNT2, NTRK1, ACTA1, VRK1, EIF2B2, PAX2, ACTB, CSF1R, MYOM1, PTPRJ, SMARCA4, ADA, RUNX1, DSP, RB1CC1, RPS7, ACSL4, QDPR, LPAR6, FIBP, IRF1, WNT1, SMARCE1, IGF2, MAP3K8, NEK2, NOS3, CTPS1, NR1I3, UBIAD1, CAD, MYD88, GATA2, CCM2, KIF5A, ACVRL1, SH3BP2, EDA, DHH, ATP1A2, LMNA, COL1A2, ITGA2, DDOST, MSH6, ABCA1, COMP, LAMB2, ICOS, PLOD3, ORAI1, GUCY1A3, NLGN4X, MMP13, GNAQ, CACNA1F, SOX5, LRSAM1, SDC3, POLR1D, PRICKLE1, DNM1L, TNNT1, EEF1A2, DSE, GLUD1, ABCG8, UCP1, RUNX2, TNFRSF1A, MPO, TMEM173, SPRY2, MLH1, GUCY2C, ABCB7, GSC, GP9, IRF8, CLDN16, RPS6KA3, MLLT11, ERCC8, VCP, USH2A, LAMB3, INS, GLIS3, CDON, EZH2, CYLD, COL7A1, FCGR2A, GDI1, CD44, ITGB3, SGCE, AMHR2, GLE1, PRSS1, GLI3, CNTN5, AGTR1, IFNAR2, PPM1D, C3, SDCCAG8, LMX1B, TSHB, HLA-DRB1, CRBN, SYN1, PEX5, CNTN1, TGFB1, TP63, OTX2, HNF4A, RAPSN, GRIN2B, KIF1B, RDX, FKBP14, FLNA, HFE2, ITGB2, NR3C1, FN1, CNNM2, PSAP, ITPR2, CYBB, ACACA, DIABLO, FOXC2, ABCB11, KLF1, COL18A1, BMPR1A, ACKR1, FBN1, AKT2, PEX19, TBX21, NR5A1, DCTN1, COL25A1, RPSA, DTNBP1, T, LAMC3, VANGL1, RHO, SYNGAP1, HNF1A, TSHR, ABCG2, MYC, ZHX2, PTEN, FGFR3, PAX3, ABCD3, GSN, PPP2R2B, THBD, STAT2, PTPRZ1, CHRND, STAT3, ABCC6, FAH, F12, CLN3, SERPINC1, HSD17B4, CORO1A, FGF14, SMARCB1, CD40LG, LHB, IL4R, NOS2, TLR4, STAMBP, PTGER2, COL4A6, WNT3, ABCA3, PRKCSH, MED25, JAK3, FGF9, PRPF4, PCBD1, MYH9, COL11A1, CLDN1, AFP, ACVR1, KITLG, APOE, TCF4, TAF2, FSHR, CAV3, POLE, IL13, EIF4A3, ATM, ESR1, FGF16, PDE6B, BAX, ABCA4, ABCC9, PIP5K1C, TLL1, CACNA1S, STRADA, COL4A1, TRH, CLASP1, APP, TCN2, PTH1R, ABCC8, EDNRB, HCRT, ACTN2, EIF2AK3, SCGB3A2, CD27, OCLN, SLC2A1, HTRA1, SPTAN1, IRF6, HMGA2, GFI1, CD46, NDUFB11, ACVR1B, PTS, TUFM, GCGR, PCLO, PSENEN, GHSR, DLL4, CAV1, NF2, DISC1, POLR1A, GNB4, KISS1, PRKAR1A, ICK, PRPH, CHRNG, MAP3K1, RAG1, ARG1, GDF6, DNM2, ROBO3, MAPT, ITGB6, TAP1, SEMA3A, ADCY10, SLC1A3, NBN, IRF7, PPARG, INSR, COL5A1, TBX3, ARHGEF9, AGL, DMP1, PTHLH, SYNJ1, GAN, KISS1R, PGK1, ELN, DDR2, SOX10, PAX8, COL27A1, PLG, CDKN2A, ARFGEF2, RPS14, THPO, NCF4, TFRC, CASP8, VIM, SERPINH1, DACT1, HNF1B, PTPN11, IL10RA, PLA2G6, S1PR2, CLDN14, ITGA8, DARS, NFKBIA, CPT1C, MYL3, BLOC1S6, ERCC2, SNAI2, LAMC2, PDGFRB, CTLA4, SMAD4, CD40, CPT1A, ARHGDIA, POU1F1, PMP22, OCRL, PLCE1, THRB, MATR3, DDX3X, IRS1, ANXA5, PTCH1, ACE, PRSS2, CTSK, APOA2, CIB2, GHR, TNFRSF13C, GLI2, PAX6, MC3R, EIF2B4, PIK3R2, TNC, WRN, TBC1D7, ETV6, TCF7L2, GP1BB, CPOX, LRP1, COL6A1, PITX3, TPM3, EPHX1, CD79B, CRX, CACNA1B, CEP63, LHX3, NHLRC1, PTCH2, LIFR, MECOM, PAX4, COL11A2, CLDN19, MPL, NR0B1, PRX, PROM1, IFNGR2, HTT, PRLR, AVPR2, FMR1, PDGFRA, MPZ, EP300, PSEN2, TAF1, PHOX2A, MAX, MYO6, UBB, ZBTB16, IGF1, NLRP1, ABCA5, PCNA, IL17RA, ADCY5, NUP93, FOXO1, CACNA2D4, JAM3, GDF2, BMPR2, PLIN1, QARS, PLK4, TTR, RET, DRD4, CACNA1G, VHL, REN, CCL11, CATSPER1, AHSG, TBK1, USP9X, LDHA, MYCN, VWF, IRS2, MECP2, MVK, PPP2R1A, MYLK, TGFB3, ACAN, DNAJC6, MYOC, P2RX2, APC, GCK, NFKB1, MYO5B, TUBB, MAK, NRAS, FOXP3, MTOR, PLAU, IL1RN, LAMA4, BAG3, CCND2, MMP2, ELANE, PRKDC, WNT5A, IHH, BRCA1, IGF1R, TRPC3, LDLR, GYS1, SEC63, ABCC2, ATP1A3, SLC25A4, SOX17, AXIN1, FOXL2, CHRNA4, SLC1A1, AMPD2, HLA-G, IFNG, CCL2, COL6A2, PHKA1, ITCH, UBQLN2, SELE, SYP, TUBB3, RAG2, ACADM, NPPA, TH, BRAF, CHRM3, PLN, TUBB4A, PNPT1, SKIV2L, CRB2, NR2F1, SUMF1, EPOR, ABCC11, CSF3R, GPC3, NME1, YAP1, NR0B2, BIN1, RAB23, GJB2, RETN, RAI1, HPCA, BMPR1B, PLA2G5, DHCR7, CASP10, PDHA1, ATP1B1, IL17RC, SCN5A, MC4R, SETD1A, BRF1, VCAN, IRF3, STX1B, EXT2, POLR3A, DLX5, GATA5, CD19, CARD11, NOTCH1, MYLK2, TBXA2R, PDGFB, DLC1, PITX2, MSH2, FGFR2, AMH, PLCG2, DRD5, NPHS1, MARS, RPL11, GCH1, COL4A2, PTPN12, L1CAM, OPA1, ATP5A1, FLNC, ERCC3, TBX6, DGKE, FGF20, DCC, ABCB4, FASLG, ITGA7, AFG3L2, DNMT3B, PRKACA, GNRH1, ABCB6, CFTR, MYH11, ADCY6, ATR, NHP2, ANK2, TGFBR2, KDR, HFE, PORCN, PPP2R1B, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Energy metabolismYesN0.002301844.93104

GLUTAMINE DEFICIENCY, CONGENITAL, SPHEROCYTOSIS, TYPE 4, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, LONG QT SYNDROME 15, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PARAGANGLIOMAS 5, GLUCOCORTICOID RESISTANCE, ZIMMERMANN-LABAND SYNDROME 2, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 3, MYOPIA 6, ZIMMERMANN-LABAND SYNDROME 1, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, CARCINOID TUMORS, INTESTINAL, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RETINITIS PIGMENTOSA 17, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CARDIOMYOPATHY, HYPERTROPHIC, 3, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEBER OPTIC ATROPHY AND DYSTONIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, GLIOMA SUSCEPTIBILITY 1, THROMBOCYTOPENIA 4, HYPERPROINSULINEMIA, SULFITE OXIDASE DEFICIENCY, HYPERCHLORHIDROSIS, ISOLATED, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, ?OPTIC ATROPHY 9, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, WRINKLY SKIN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, LEBER OPTIC ATROPHY, LONG QT SYNDROME 14, ALTERNATING HEMIPLEGIA OF CHILDHOOD, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, ONCOCYTOMA, PARAGANGLIOMAS 3, BJORNSTAD SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OVALOCYTOSIS, SA TYPE, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, LI-FRAUMENI SYNDROME, ETHYLMALONIC ENCEPHALOPATHY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, ADRENAL CORTICAL CARCINOMA, CRYOHYDROCYTOSIS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, RENAL TUBULAR ACIDOSIS, DISTAL, AR, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, GLYCOGEN STORAGE DISEASE VII, RENAL TUBULAR ACIDOSIS, DISTAL, AD, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MYASTHENIC SYNDROME, CONGENITAL, 16, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, PARKINSON DISEASE 4, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, INFANTILE CEREBELLAR-RETINAL DEGENERATION, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, RETINITIS PIGMENTOSA 18, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, PARAGANGLIOMAS 4, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, MYOGLOBINURIA, RECURRENT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PROTEUS SYNDROME, SOMATIC

87

CALM1, CA2, SUOX, MYC, MT-ND6, TPM1, NDUFA11, MT-CO3, ATP6V1B1, NDUFA1, ETHE1, PRPF3, CTNNB1, COX10, COX6B1, NDUFB11, SCO2, NDUFS8, CYCS, COX8A, CPS1, MT-ND2, ATP6V0A2, GLUL, CA4, SDHC, ATP1A2, IMPAD1, TCIRG1, SLC4A1, HSPD1, NDUFA2, MT-CYB, UQCRQ, ATP6V1B2, NDUFA9, PAPSS2, COX14, RPS6KA3, GLUD1, NDUFA10, INS, MT-CO1, LARS, PFKM, NDUFB3, MT-ATP6, NDUFA12, COX6A1, SDHD, NDUFS7, BCS1L, AKT1, AXIN1, NDUFS1, TP53, NDUFS6, MT-ND1, COX15, SNCA, CA8, DDOST, MT-ND3, COX7B, NDUFV1, NDUFS3, MT-ND4, SDHA, MT-CO2, NDUFS4, NDUFV2, UQCRC2, NDUFB9, GLUD2, CA12, CA5A, COX4I2, MT-ND5, ATP5A1, MT-ND4L, PMPCA, ACO2, CYC1, NR3C1, SDHB, UQCRB, NDUFS2

1, 10, 11, 12, 14, 15, 16, 17, 18, 19, 2, 20, 22, 3, 4, 5, 7, 8, 9, MT, X0
Valine, leucine and isoleucine degradationYesN7.75222e-056.0968

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, GALACTOSE EPIMERASE DEFICIENCY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, HMG-COA LYASE DEFICIENCY, GLIOMA SUSCEPTIBILITY 1, HYPERPARATHYROIDISM 1, ?ACAT2 DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, GABA-TRANSAMINASE DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, VON WILLEBRAND DISEASE, TYPE 1, 2-METHYLBUTYRYLGLYCINURIA, HYPERPROINSULINEMIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, TRIFUNCTIONAL PROTEIN DEFICIENCY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, ESSENTIAL HYPERTENSION, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, LI-FRAUMENI SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, NAXOS DISEASE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, ALCOHOL DEPENDENCE, ACETYL-COA CARBOXYLASE DEFICIENCY, TANGIER DISEASE, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, BURKITT LYMPHOMA, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ALPHA-METHYLACETOACETIC ACIDURIA, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ADRENAL CORTICAL CARCINOMA, ?FANCONI RENOTUBULAR SYNDROME 3, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, EPILEPSY, PYRIDOXINE-DEPENDENT, ISOVALERIC ACIDEMIA, METHYLMALONYL-COA EPIMERASE DEFICIENCY, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, TYROSINEMIA, TYPE II, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SJOGREN-LARSSON SYNDROME, CHOROID PLEXUS PAPILLOMA, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

48

TUBA8, TAT, ECHS1, MYC, HSD17B10, ACADS, ALDH6A1, VWF, MCEE, NOS3, ALDH7A1, PCCB, ACAT1, MT-CO2, ALDH3A2, ABCA1, HIBCH, HMGCL, PCCA, ALDH2, HADHA, TP53, BCKDHA, HADHB, ACACA, HADH, CPS1, MUT, EHHADH, JUP, ACAT2, DBT, MCCC1, CDC73, ACADSB, OGDH, DLD, MCCC2, IVD, ACADM, BCKDHB, AUH, UMPS, GALE, INS, CTSD, ABAT, HMGCS2

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Central carbon metabolism in cancerYesN5.39113e-066.0133

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ACHONDROPLASIA, FAVISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, HEMOLYTIC ANEMIA DUE TO G6PD DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MULTIPLE ENDOCRINE NEOPLASIA IIB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYOPIA 6, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, CONGENITAL DIAPHRAGMATIC HERNIA, SUPRAVALVAR AORTIC STENOSIS, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, TRIGONOCEPHALY 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, SADDAN, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, FANCONI-BICKEL SYNDROME, CARDIOMYOPATHY, DILATED, 1NN, BENT BONE DYSPLASIA SYNDROME, HYPERPROINSULINEMIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, HYPOCHONDROPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, CATSHL SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, THANATOPHORIC DYSPLASIA, TYPE I, MULTIPLE ENDOCRINE NEOPLASIA IIA, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, KERATOSIS, SEBORRHEIC, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, OPSISMODYSPLASIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, JACKSON-WEISS SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, CLEFT PALATE, ISOLATED, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, MODY, TYPE II, OCULOECTODERMAL SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLIOMA SUSCEPTIBILITY 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, DYSTONIA 9, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, KOSAKI OVERGROWTH SYNDROME, GLYCOGEN STORAGE DISEASE X, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, SHORT SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, RENAL ADYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 39, CROUZON SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MAST CELL DISEASE, LADD SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, APERT SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

55

PFKM, NRAS, RASA1, PGAM2, SLC2A1, FGFR3, NGF, SLC2A2, HSPB1, SCO2, MAP2K2, EIF2B1, AKT3, PIK3R2, NTRK1, IDH1, LEP, TNF, PDHA1, GCK, FGFR1, G6PD, CDK5, FLT3, ERBB2, AKT2, MTOR, AKT1, KRAS, INPPL1, FGFR2, PIK3CD, CCND1, MET, TP53, PDGFRA, INS, RAF1, MYC, RET, PIK3CA, CDH1, HRAS, EGFR, HGF, PTPN1, HK1, PTEN, LDHA, PCNA, PIK3R5, STAT3, KIT, PDGFRB, PIK3R1

1, 10, 11, 12, 13, 14, 16, 17, 19, 2, 20, 22, 3, 4, 5, 6, 7, 8, X0
Neuroactive ligand-receptor interactionYesN0.002882593.69290

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, ATROPHODERMA VERMICULATUM, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, MULTIPLE FIBROADENOMAS OF THE BREAST, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, ACNE INVERSA, FAMILIAL, 3, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, DIABETES INSIPIDUS, NEPHROGENIC, HYPER-IGE RECURRENT INFECTION SYNDROME, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, IMMUNODEFICIENCY 21, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GROWTH HORMONE INSENSITIVITY, PARTIAL, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, DEAFNESS, AUTOSOMAL DOMINANT 41, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA 14, DYSTONIA-11, MYOCLONIC, [NOVELTY SEEKING PERSONALITY], POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, FRONTOTEMPORAL DEMENTIA, KOWARSKI SYNDROME, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SUPRAVALVAR AORTIC STENOSIS, OTOPALATODIGITAL SYNDROME, TYPE II, FRASER SYNDROME, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ?HYPERPROLACTINEMIA, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, LARON DWARFISM, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 2, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, PSEUDOHYPOPARATHYROIDISM IA, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, RENAL TUBULAR DYSGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, {OBESITY, SEVERE, SUSCEPTIBILITY TO, BMIQ9}, ESCOBAR SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CORPUS CALLOSUM, PARTIAL AGENESIS OF, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, TRYPSINOGEN DEFICIENCY, DEAFNESS, AUTOSOMAL RECESSIVE 68, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, HYPERPROINSULINEMIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, PLASMA FIBRONECTIN DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ESSENTIAL HYPERTENSION, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, SPERMATOGENIC FAILURE 8, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FAMILIAL COLORECTAL CANCER, BLEEDING DISORDER, PLATELET-TYPE, 15, OVARIAN HYPERSTIMULATION SYNDROME, LONG QT SYNDROME 14, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, PARKINSON DISEASE 4, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, OTOPALATODIGITAL SYNDROME, TYPE I, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1B, AUTOSOMAL RECESSIVE, OSSEOUS HETEROPLASIA, PROGRESSIVE, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, EPIDERMAL NEVUS, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MASA SYNDROME, CRASH SYNDROME, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {BLEPHAROSPASM, PRIMARY BENIGN}, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, EMBERGER SYNDROME, NON-IMMUNE HYDROPS FETALIS, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, THROMBOCYTHEMIA 3, ATRIAL SEPTAL DEFECT 5, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, CRYPTORCHIDISM, ALZHEIMER DISEASE-2, HUNTINGTON DISEASE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, {MELANOMA, CUTANEOUS MALIGNANT, 2}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, AURICULOCONDYLAR SYNDROME 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, GLIOMA SUSCEPTIBILITY 1, ALCOHOL DEPENDENCE, ADRENAL CORTICAL CARCINOMA, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, CARDIOMYOPATHY, HYPERTROPHIC, 11, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, CHONDRODYSPLASIA, BLOMSTRAND TYPE, FRAGILE X TREMOR/ATAXIA SYNDROME, THYROTROPIN-RELEASING HORMONE DEFICIENCY, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ATELEIOTIC DWARFISM, OVARIAN DYSGENESIS 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, VENTRICULAR TACHYCARDIA, IDIOPATHIC, {LEPROSY, SUSCEPTIBILITY TO}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PREMATURE OVARIAN FAILURE 1, DEAFNESS, AUTOSOMAL RECESSIVE 24, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, HYPERTHYROIDISM, NONAUTOIMMUNE, {EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO}, {EPILEPSY, IDIOPATHIC GENERALIZED, 10}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, FRONTOMETAPHYSEAL DYSPLASIA, FRAGILE X SYNDROME, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?PRECOCIOUS PUBERTY, CENTRAL, 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, HYPOTRICHOSIS 8, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, METACHONDROMATOSIS, AMYOTROPHIC LATERAL SCLEROSIS 19, MACROCEPHALY/AUTISM SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, HETEROTOPIA, PERIVENTRICULAR, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, EIKEN SYNDROME, ABCD SYNDROME, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, PAGET DISEASE OF BONE 3, LEUKEMIA, CHRONIC MYELOID, SOMATIC, THYROID HORMONE RESISTANCE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ESTROGEN RESISTANCE, PREMATURE OVARIAN FAILURE 7, MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, HYPEREKPLEXIA HEREDITARY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, PICK DISEASE, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, OVARIAN RESPONSE TO FSH STIMULATION, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, SEA-BLUE HISTIOCYTE DISEASE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, CARDIOMYOPATHY, DILATED, 1U, [SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN], [SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN], {UV-INDUCED SKIN DAMAGE}, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, FAILURE OF TOOTH ERUPTION, PRIMARY, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

173

CALM1, MPDZ, C3AR1, CHRNA4, F2, KIF5A, DRD4, APOE, MYC, CHRNG, MTNR1B, SQSTM1, MYD88, PSEN1, ACTN2, AGT, PPARG, AGTR1, CSNK1D, ALB, EDN1, KISS1R, LHCGR, MMP1, CDKN2A, FMR1, ADRB2, GABRA2, S1PR2, RXFP2, ERBB2, ACTC1, SMAD4, ADCY6, GRID2, GHSR, GNAI2, HTR1A, THRB, ERBB4, DNM1, PRSS2, GRIP1, GNAQ, ERBB3, COPA, GABRA1, ACTN1, MC3R, GABRD, CHRNA2, IGF2, GNAS, NOS3, MC1R, THRA, DRD5, GNRHR, FSHB, TNF, GATA2, EDNRA, POU1F1, LEP, TBXA2R, ARFGEF2, CALR, FSHR, CHRND, CCND1, JAK2, MC2R, LRSAM1, HTT, AVPR2, CD44, BCR, IRS1, TSHB, PCNA, HTR2A, ADRB3, GPHN, INS, MC4R, GLRA1, PTGER2, TSG101, PRSS1, IGF1, CHRNB1, GHR, KLC2, CASR, P2RX2, GRIN2B, CHRNA1, FOXP3, EDNRB, ITGB2, RDX, FN1, TUBB3, DRD2, KAT5, PRKDC, ACACA, IGF1R, RUNX1, TP53, ADRA2B, GRIK2, AKT1, SNCA, TSHR, PRKCG, PTEN, GH1, MUSK, POMC, CHRM3, LPAR6, GABRG2, STAT3, TLR2, GRIN2A, GABBR2, EIF2B1, FLNA, CHRNE, NGF, LHB, NOS2, RETN, GNAO1, KNG1, PIK3R2, TGFB1, NR5A1, PTPN11, CFTR, TACR3, GCGR, PRLR, PRKACA, PLG, GRM6, IL13, ACTN4, IL6, L1CAM, BDNF, TRH, APP, GRM1, PTH1R, HRAS, EGFR, ITGA7, LRP1, DRD3, GNRH1, SELP, SMAD3, NR3C1, ADAM17, HSPG2, ESR1, CALCR, KDR, P2RX1, MTOR, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Signaling pathways regulating pluripotency of stem cellsYesN9.02569e-084.32294

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ROBINOW-SORAUF SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, OSTEOGENESIS IMPERFECTA, TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, HYPERPARATHYROIDISM 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, ACHONDROPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, NON-IMMUNE HYDROPS FETALIS, THANATOPHORIC DYSPLASIA, TYPE I, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MICROPHTHALMIA WITH COLOBOMA 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, DESMOID DISEASE, HEREDITARY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, OROFACIAL CLEFT 11, VACTERL ASSOCIATION, X-LINKED, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIOFACIOCUTANEOUS SYNDROME, SHORT SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 23, GILLESPIE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, WAARDENBURG SYNDROME, TYPE 3, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, MICROPHTHALMIA, SYNDROMIC 6, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, BRACHIOOTIC SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, SUPRAVALVAR AORTIC STENOSIS, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEPATIC ADENOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AURICULOCONDYLAR SYNDROME 3, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, TOOTH AGENESIS, SELECTIVE, 7, TRIGONOCEPHALY 1, AORTIC VALVE DISEASE 2, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PULMONARY HYPERTENSION, PRIMARY, 2, THYROID HORMONE RESISTANCE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, IMMUNODEFICIENCY 36, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, POLYDACTYLY, PREAXIAL, TYPE IV, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, GLIOMA SUSCEPTIBILITY 1, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, OSTEOGENESIS IMPERFECTA, TYPE IV, MALFORMATION OF THE HEART, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BENT BONE DYSPLASIA SYNDROME, HOLOPROSENCEPHALY-3, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, SPLENIC HYPOPLASIA, DENYS-DRASH SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, TOOTH AGENESIS, SELECTIVE, 4, RUBINSTEIN-TAYBI SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, FOVEAL HYPOPLASIA 1, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, LOEYS-DIETZ SYNDROME 3, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, SPLIT-HAND/FOOT MALFORMATION 6, FUHRMANN SYNDROME, FAMILIAL COLORECTAL CANCER, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, HYPOPLASTIC LEFT HEART SYNDROME 2, KERATOSIS, SEBORRHEIC, SOMATIC, DUANE-RADIAL RAY SYNDROME, ADAMS-OLIVER SYNDROME 5, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, OSTEOGENESIS IMPERFECTA, TYPE XV, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, SADDAN, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, HETEROTAXY, VISCERAL, 5, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, VENTRICULAR SEPTAL DEFECT 1, EXUDATIVE VITREORETINOPATHY 1, EPIDERMAL NEVUS, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, OLIGODONTIA-COLORECTAL CANCER SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RETINITIS PIGMENTOSA 27, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, IVIC SYNDROME, SPLIT-HAND/FOOT MALFORMATION 1, BRACHYDACTYLY, TYPE A1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SCHOPF-SCHULZ-PASSARGE SYNDROME, LI-FRAUMENI SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, PAPILLORENAL SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MULLERIAN APLASIA AND HYPERANDROGENISM, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, THROMBOCYTHEMIA 3, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OCULOECTODERMAL SYNDROME, VENTRICULAR SEPTAL DEFECT 3, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CARDIOMYOPATHY, DILATED, 1NN, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?MULTIPLE SYNOSTOSES SYNDROME 3, ATRIAL SEPTAL DEFECT 2, OPTIC NERVE HYPOPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, PULMONARY HYPERTENSION, PRIMARY, 3, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, MODY, TYPE III, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, PREMATURE AGING SYNDROME, PENTTINEN TYPE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 35, KERATITIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, PULMONARY VENOOCCLUSIVE DISEASE 1, ODONTOONYCHODERMAL DYSPLASIA, HEMOCHROMATOSIS TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, PITT-HOPKINS SYNDROME, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, HYPOCHONDROPLASIA, PLASMA FIBRONECTIN DEFICIENCY, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, COLOBOMA, OCULAR, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, ADERMATOGLYPHIA, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, JACKSON-WEISS SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, MELNICK-FRASER SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, IRIDOGONIODYSGENESIS, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, CATARACT 6, MULTIPLE TYPES, BRACHYDACTYLY, TYPE A1, D, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, NEPHROTIC SYNDROME, TYPE 4, CRANIOSYNOSTOSIS, TYPE 1, ULNAR-MAMMARY SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, LADD SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, PARIETAL FORAMINA 2, MENTAL RETARDATION, X-LINKED 30/47, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, DEJERINE-SOTTAS DISEASE, RING DERMOID OF CORNEA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, SERKAL SYNDROME, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, HETEROTOPIA, PERIVENTRICULAR, PALLISTER-HALL SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, BRACHYDACTYLY, TYPE B1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

140

SMARCAD1, EZH2, CAV1, WNT5A, FSHB, FGFR4, TWIST1, COL1A2, TBX3, FLT3, OTX2, CDH1, PAFAH1B1, WT1, FRZB, WNT10A, EGR2, EPHA2, TGFBR1, MYC, SMARCA4, PIK3CA, BMP4, PDGFRB, SMAD4, CREBBP, NRL, GATA3, SOX2, THRB, SF3B4, MUSK, WNT7A, KRAS, ERBB3, PAX6, NKX2-5, WNT10B, TCF7L2, PIK3CD, MTOR, FGFR1, MEF2C, EDA, BMPR1A, LHX3, FZD4, LIFR, CCND1, JAK2, ZIC3, MEN1, GDNF, MYH6, ROR2, T, GSC, STAT3, KMT2A, AXIN2, ALX4, IGF1, ACVR1B, EDN1, SMAD6, CTNNB1, NRAS, RUNX1, DVL3, SMAD9, PAX2, PITX2, BMP2, ZFHX3, BRCA1, FN1, FZD6, AXIN1, VDR, SIX1, IGF1R, HOXB1, TP53, AKT2, RAF1, MAP2K2, IHH, SPRY2, GLI3, AKT1, HNF1A, EFNB1, KAT6A, PTEN, FGFR3, FGF9, PIK3R5, ESRRB, DLX5, RUNX2, RB1, HESX1, FLNA, SMAD3, NGF, NODAL, CHEK2, PAX3, BMPR1B, PIK3R2, WNT3, JAK3, TBP, DVL1, FGF10, ACVR1, GATA5, TCF4, NOTCH1, AKT3, DNMT1, BMPR2, FGFR2, SALL4, PAK3, GATA4, WNT1, APP, APC, LRP6, HRAS, EGFR, WNT4, NR0B2, NR3C1, ESR1, PIK3R1, KDR, PORCN, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
cGMP-PKG signaling pathwayYesN3.67611e-054.14250

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, RETINITIS PIGMENTOSA-40, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 20, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?FIBROMATOSIS, GINGIVAL, 1, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, SHORT SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, LONG QT SYNDROME 15, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, PARKINSON DISEASE 1, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, RETINITIS PIGMENTOSA, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, CARDIOFACIOCUTANEOUS SYNDROME, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, AURICULOCONDYLAR SYNDROME 3, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, ACNE INVERSA, FAMILIAL, 3, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MYXOMA, INTRACARDIAC, PSEUDOHYPOPARATHYROIDISM IA, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 2, LEBER CONGENITAL AMAUROSIS 1, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ATRIOVENTRICULAR SEPTAL DEFECT 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, MOYAMOYA 6 WITH ACHALASIA, ATRIAL STANDSTILL 2, OCULODENTODIGITAL DYSPLASIA, ALAND ISLAND EYE DISEASE, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ABCD SYNDROME, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 18, CARDIOMYOPATHY, HYPERTROPHIC, 12, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ATRIOVENTRICULAR SEPTAL DEFECT 4, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, FAMILIAL COLORECTAL CANCER, SYNDACTYLY, TYPE III, KERATOSIS, SEBORRHEIC, SOMATIC, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, PLASMA FIBRONECTIN DEFICIENCY, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, BURKITT LYMPHOMA, DYSTONIA-12, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, OSSEOUS HETEROPLASIA, PROGRESSIVE, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HYPOMAGNESEMIA 2, RENAL, CONE-ROD DYSTROPHY, X-LINKED, 3, PARKINSON DISEASE 4, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2, TIMOTHY SYNDROME, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOSPADIAS 1, X-LINKED, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CARDIOMYOPATHY, DILATED, 1NN, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, LIANG DISTAL MYOPATHY, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ATRIAL SEPTAL DEFECT 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, DYSTONIA 25, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, HYPERPARATHYROIDISM, NEONATAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ADRENAL CORTICAL CARCINOMA, DARIER DISEASE, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, AURICULOCONDYLAR SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, RETINITIS PIGMENTOSA 45, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, ?IMMUNODEFICIENCY 22, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, LOEYS-DIETZ SYNDROME 5, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, POLYCYSTIC LIVER DISEASE, BLEEDING DISORDER, PLATELET-TYPE, 11, HYPOPLASTIC LEFT HEART SYNDROME 1, LEPRECHAUNISM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPERPROINSULINEMIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, METACHONDROMATOSIS, 46,XX SEX REVERSAL, TYPE 2, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GLIOMA SUSCEPTIBILITY 1, ANDROGEN INSENSITIVITY, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, THROMBOCYTOPENIA 4, LONG QT SYNDROME 14, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, AORTIC ANEURYSM, FAMILIAL THORACIC 7, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PICK DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, ESSENTIAL HYPERTENSION, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ATRIAL FIBRILLATION, FAMILIAL, 6, BRODY MYOPATHY, LOEYS-DIETZ SYNDROME 1, CONE-ROD DYSTROPHY 6, CARDIOMYOPATHY, DILATED, 1U, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, AORTIC ANEURYSM, FAMILIAL THORACIC 8, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, ACHROMATOPSIA 7, ACROKERATOSIS VERRUCIFORMIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

142

CALM1, PDE4D, MMP2, ADCY1, ATP2B3, GNAS, CYCS, PSEN1, AGT, GNAI3, AGTR1, PPP1R3A, PRKAR1A, CALCR, EDN1, MYH7, AKT2, IL1B, NPR2, MYC, PIK3CA, HNRNPA1, ERBB2, ADCY6, GNAI2, RAF1, IRS1, GNAQ, HTR1A, MAP2K2, NPPA, POMC, GUCY2D, ATP1B1, TCF7L2, ATP2A1, CABP4, BAX, TNF, CACNA1D, EDNRA, MEF2C, ATP1A2, PIK3CD, KIF5C, GABRG2, PTH, CACNA1F, MYLK, PDE3A, GP6, ITPR1, PRKG1, CASR, RB1, HCFC1, ADRB3, FXYD2, ADCY5, PDE6B, INS, ABCC8, CAV3, TGFBR1, KCNJ11, PPARG, GJA1, SOX9, GABBR2, EP300, IGF1, FOXO1, KCNMB1, TGFB3, SYN1, GNA11, GRIN2B, HNF1B, FOXP3, FN1, TUBB3, PRKACG, KAT5, CFTR, TP53, ATP1A3, SLC25A4, ADRA2B, CNGB1, AKT1, SNCA, ATP2B2, STXBP1, ITPR3, PIK3R5, PLN, ITPR2, GUCY1A3, RUNX2, LCK, AR, KCNMA1, PRKCD, TLR4, KNG1, MYLK2, PIK3R2, TGFB1, PRKCSH, PTPN11, ATM, GNAL, IGF1R, PLCB1, STAT3, PRKACA, CACNA1C, INSR, KCNJ8, NOS3, AKT3, SOS1, ACTN4, IL6, ADRB2, GATA4, CACNA1S, STX11, APP, MEF2A, ATF6, EDNRB, IRS2, ACTN2, CSRP3, SMAD3, ATP2A2, ESR1, CNGA1, PLCB4, MTOR, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Calcium signaling pathwayYesN1.69204e-064.14265

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), CONE-ROD DYSTROPHY, X-LINKED, 3, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, EMBERGER SYNDROME, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, IMMUNODEFICIENCY 21, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, WAARDENBURG SYNDROME, TYPE 4A, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYOPIA 23, AUTOSOMAL RECESSIVE, DEAFNESS, AUTOSOMAL DOMINANT 41, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, DARIER DISEASE, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, SPINOCEREBELLAR ATAXIA 14, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, EPISODIC ATAXIA, TYPE 2, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, MYOPATHY, TUBULAR AGGREGATE, 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, CONGENITAL DIAPHRAGMATIC HERNIA, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SUPRAVALVAR AORTIC STENOSIS, ?DYSTONIA 23, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, STORMORKEN SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, IMMUNODEFICIENCY 43, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, CLEFT PALATE, ISOLATED, IMMUNODEFICIENCY 35, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, ?FIBROMATOSIS, GINGIVAL, 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, MYXOMA, INTRACARDIAC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CARDIOMYOPATHY, DILATED, 3B, ALAND ISLAND EYE DISEASE, RIPPLING MUSCLE DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, ESSENTIAL HYPERTENSION, CARDIOMYOPATHY, HYPERTROPHIC, 18, ?IMMUNODEFICIENCY 22, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, MUSCLE GLYCOGENOSIS, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ANGELMAN SYNDROME, FAMILIAL COLORECTAL CANCER, ?SPINOCEREBELLAR ATAXIA 41, GLIOMA SUSCEPTIBILITY 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, AURICULOCONDYLAR SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MYOPATHY, MYOFIBRILLAR, 1, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, MYOPATHY, TUBULAR AGGREGATE, 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, SPINOCEREBELLAR ATAXIA 6, EPIDERMAL NEVUS, MYOPATHY, DISTAL, TATEYAMA TYPE, CARDIOMYOPATHY, HYPERTROPHIC, 3, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {BLEPHAROSPASM, PRIMARY BENIGN}, IMMUNODEFICIENCY 36, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, TIMOTHY SYNDROME, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, BRACHYDACTYLY, TYPE E2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, GLYCOGEN STORAGE DISEASE IXC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, AURICULOCONDYLAR SYNDROME 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOSPADIAS 1, X-LINKED, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CARDIOMYOPATHY, DILATED, 1NN, ALCOHOL DEPENDENCE, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, IMMUNODEFICIENCY 8, AURICULOCONDYLAR SYNDROME 1, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, THYROTROPIN-RELEASING HORMONE DEFICIENCY, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, DYSTONIA 25, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 2, BECKER MUSCULAR DYSTROPHY, MIRROR MOVEMENTS 1, VENTRICULAR TACHYCARDIA, IDIOPATHIC, OROFACIAL CLEFT 11, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, PARKINSON DISEASE 4, ?PRUNE BELLY SYNDROME, INFANTILE MYOFIBROMATOSIS 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, PSEUDOHYPOPARATHYROIDISM IA, DILATED CARDIOMYOPATHY 1DD, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, ?CATARACT 30, PULVERULENT, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, HYPERPROINSULINEMIA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ABCD SYNDROME, PAPILLARY THYROID CARCINOMA, DIABETES INSIPIDUS, NEPHROGENIC, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, NOONAN SYNDROME 7, LONG QT SYNDROME 14, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, AORTIC ANEURYSM, FAMILIAL THORACIC 7, LYMPHOPROLIFERATIVE SYNDROME 2, PSEUDOHYPOALDOSTERONISM, TYPE IIE, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, ANDROGEN INSENSITIVITY, NEPHROTIC SYNDROME, TYPE 3, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SPINOCEREBELLAR ATAXIA 42, LEOPARD SYNDROME 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, IMMUNODEFICIENCY 10, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, IMMUNODEFICIENCY 9, ACROKERATOSIS VERRUCIFORMIS, BRODY MYOPATHY, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

147

CALM1, PDE4D, CHRNA4, F2, ADCY1, MYC, TPM1, CUL3, MYD88, TBXA2R, PLCD1, AGT, HAX1, PPARG, AGTR1, PRKAR1A, EDN1, RYR2, B2M, LHCGR, IL1B, VIM, ATP2B3, DES, CACNA1B, CACNA1F, BMP4, CDC73, ERBB2, ADCY6, PRKACG, RAF1, PHKB, GNAQ, ERBB3, PHKA2, SLC9A3R1, AR, ACTN4, PLCE1, GNAS, NOS3, ATP2A1, CABP4, BAX, TNF, CACNA1D, EDNRA, MEF2C, ATP1A2, DRD5, JAK2, CBL, ORAI1, GNAI2, CCND1, CD27, PDE3A, AVPR2, EEF1A2, ITPR1, CACNA1A, CASR, PTPN1, RYR1, TNNT2, HTR2A, ADRB3, TYK2, INS, CAV3, STIM1, GRIN2B, CACNA1G, CTNNB1, GABBR2, CDK5, GRM1, MYLK, PDGFRB, SYN1, P2RX2, DMD, GNA11, HRAS, MTOR, PTHLH, AKT1, AKAP9, ITPR2, VDR, CFTR, APOA1, UBE3A, SLC25A4, LRPAP1, CCL2, SNCA, ATP2B2, PRKCG, TUBB3, ERBB4, ITPR3, POMC, CHRM3, PLN, LCK, GRIN2A, CORO1A, NOS2, TUBG1, P2RX1, EIF2B1, PHKG2, HBA1, ATM, GNAL, TACR3, TGFB1, PLCB1, ANK2, PRKACA, CACNA1C, MYLK2, SOS1, IL13, TRPC3, PLCG2, BRAF, IL6, ADRB2, PDGFRA, CACNA1S, TRH, APP, PHKA1, EDNRB, DCC, EGFR, ACTN2, ADA, SELP, ATP2A2, NEB, PIK3R1, GATA2, PLCB4

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 3, 4, 5, 6, 7, 8, 9, X0
Cellular communityYesN1.47376e-182.2887

MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, ATROPHODERMA VERMICULATUM, ROBINOW-SORAUF SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, HYPER-IGE RECURRENT INFECTION SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 4A, OTOPALATODIGITAL SYNDROME, TYPE II, SUPRANUCLEAR PALSY, PROGRESSIVE, DEAFNESS, DIGENIC GJB2/GJB6, DEAFNESS, AUTOSOMAL RECESSIVE 1A, DEAFNESS, DIGENIC, GJB2/GJB3, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, IMMUNODEFICIENCY 38, MULTIPLE ENDOCRINE NEOPLASIA IIB, CLEFT PALATE, ISOLATED, DESMOID DISEASE, HEREDITARY, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, CARDIOMYOPATHY, HYPERTROPHIC, 2, PULMONARY VENOOCCLUSIVE DISEASE 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, RETINITIS PIGMENTOSA, DYSTONIA-11, MYOCLONIC, CARASIL SYNDROME, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, CAMURATI-ENGELMANN DISEASE, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, AMELOGENESIS IMPERFECTA, TYPE IA, MIYOSHI MUSCULAR DYSTROPHY 1, BRACHIOOTIC SYNDROME 3, FRONTOTEMPORAL DEMENTIA, THROMBOCYTOPENIA 5, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ?PROGESTERONE RESISTANCE, MULTIPLE SYNOSTOSES SYNDROME 1, ?RETINAL ARTERIES, TORTUOSITY OF, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, ?REYNOLDS SYNDROME, ALPHA-2-MACROGLOBULIN DEFICIENCY, ?STEEL SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 35, VAN BUCHEM DISEASE, TYPE 2, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, ATRIOVENTRICULAR SEPTAL DEFECT 3, LEUKODYSTROPHY, HYPOMYELINATING, 11, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, BOHRING-OPITZ SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, MULTIPLE SYNOSTOSES SYNDROME 2, MULTIPLE ENDOCRINE NEOPLASIA IIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, VON WILLEBRAND DISEASE, TYPE 1, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, BLEEDING DISORDER, PLATELET-TYPE, 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 8, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, EHLERS-DANLOS SYNDROME, TYPE 3, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, CATARACT 16, MULTIPLE TYPES, SYNDACTYLY, TYPE III, ?MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT (AD), ?MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (AR), NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, BENIGN FAMILIAL HEMATURIA, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, SPLIT-HAND/FOOT MALFORMATION 6, FAMILIAL COLORECTAL CANCER, MELNICK-FRASER SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, EPIDERMOLYSIS BULLOSA, PRETIBIAL, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], BURKITT LYMPHOMA, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, HOLT-ORAM SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, MYOPATHY, MYOFIBRILLAR, 5, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, BRACHYDACTYLY, TYPE A1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, WAARDENBURG SYNDROME, TYPE 4C, SEBASTIAN SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, LOEYS-DIETZ SYNDROME 1, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, CULLER-JONES SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, WELANDER DISTAL MYOPATHY, TIMOTHY SYNDROME, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, STICKLER SYNDROME, TYPE II, BRACHYDACTYLY, TYPE E2, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, LIANG DISTAL MYOPATHY, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ATRIAL SEPTAL DEFECT 2, LEUKODYSTROPHY, HYPOMYELINATING, 6, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MODY, TYPE III, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, MYOPATHY, MYOFIBRILLAR, 4, KERATITIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, HEMOCHROMATOSIS TYPE 1, OGDEN SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, FRONTONASAL DYSPLASIA 2, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, GLAUCOMA 1A, PRIMARY OPEN ANGLE, EXUDATIVE VITREORETINOPATHY 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, ?DYSTONIA 23, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, COLE-CARPENTER SYNDROME 1, TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, PEROXISOME BIOGENESIS DISORDER 11B, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, CORTICAL MALFORMATIONS, OCCIPITAL, ?CATARACT 30, PULVERULENT, LISSENCEPHALY 5, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, DEAFNESS, X-LINKED 5, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, SED, MAROTEAUX TYPE, LATERAL MENINGOCELE SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, ABCD SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, DEAFNESS, AUTOSOMAL RECESSIVE 39, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, NOONAN SYNDROME 7, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CROUZON SYNDROME, METATROPIC DYSPLASIA, OSTEOLYSIS, FAMILIAL EXPANSILE, PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY, STICKLER SYNDROME, TYPE III, OSTEOGENESIS IMPERFECTA, TYPE XV, DEAFNESS, AUTOSOMAL DOMINANT 13, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, AMELOGENESIS IMPERFECTA, TYPE IH, PICK DISEASE, FRASIER SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, HOLOPROSENCEPHALY-5, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SCHOPF-SCHULZ-PASSARGE SYNDROME, BRACHYOLMIA TYPE 3, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 3B, RETINITIS PIGMENTOSA 62, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?FIBROMATOSIS, GINGIVAL, 1, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ATELOSTEOGENESIS, TYPE I, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, RETINITIS PIGMENTOSA 27, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, EPIDERMOLYSIS BULLOSA PRURIGINOSA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, VACTERL ASSOCIATION, X-LINKED, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, PANHYPOPITUITARISM, X-LINKED, AMYOTROPHIC LATERAL SCLEROSIS 19, DEAFNESS, AUTOSOMAL DOMINANT 23, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 2D, HYPOPHOSPHATASIA, INFANTILE, HEPATIC ADENOMA, SOMATIC, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ALZHEIMER DISEASE, TYPE 4, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, MEIER-GORLIN SYNDROME 5, LEUKEMIA, CHRONIC MYELOID, SOMATIC, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, WIEDEMANN-STEINER SYNDROME, BRACHYDACTYLY, TYPE C, POLYDACTYLY, PREAXIAL, TYPE IV, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, ATAXIA-TELANGIECTASIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CARDIOMYOPATHY, DILATED, 1NN, ?MULTIPLE SYNOSTOSES SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE IV, CRANIOFRONTONASAL DYSPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, TOOTH AGENESIS, SELECTIVE, 4, CARDIOMYOPATHY, HYPERTROPHIC, 12, DYSTONIA 27, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, BRACHYDACTYLY, TYPE A1, C, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, DEAFNESS, AUTOSOMAL DOMINANT 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NOONAN SYNDROME 9, PRIMARY PULMONARY HYPERTENSION, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, DENYS-DRASH SYNDROME, ?SPINOCEREBELLAR ATAXIA 41, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, TOOTH AGENESIS, SELECTIVE, 7, LONG QT SYNDROME 14, ARTHROGRYPOSIS, DISTAL, TYPE 8, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, TARSAL-CARPAL COALITION SYNDROME, FRAXE, OPSISMODYSPLASIA, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, LEOPARD SYNDROME 1, RABSON-MENDENHALL SYNDROME, CORNEAL DYSTROPHY, AVELLINO TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SEGAWA SYNDROME, RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, COFFIN-LOWRY SYNDROME, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ADAMS-OLIVER SYNDROME 5, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, DEAFNESS, AUTOSOMAL DOMINANT 56, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, HARTSFIELD SYNDROME, KNOBLOCH SYNDROME 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, [BONE MINERAL DENSITY VARIABILITY 1], {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MARFAN LIPODYSTROPHY SYNDROME, VENTRICULAR SEPTAL DEFECT 3, HYPOPLASTIC LEFT HEART SYNDROME 2, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, NOONAN SYNDROME 10, ADRENAL CORTICAL CARCINOMA, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), SPONDYLOPERIPHERAL DYSPLASIA, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, ?MYASTHENIC SYNDROME, CONGENITAL, 18, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BECKER MUSCULAR DYSTROPHY, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, ALAGILLE SYNDROME, OROFACIAL CLEFT 11, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 1, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, HYPOCHONDROPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, COLOBOMA, OCULAR, SPINOCEREBELLAR ATAXIA 17, OSTEOGENESIS IMPERFECTA, TYPE III, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, BRANCHIOOTIC SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DEAFNESS, AUTOSOMAL RECESSIVE 53, ROBINOW SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, KOSAKI OVERGROWTH SYNDROME, BRACHYDACTYLY, TYPE B2, EPITHELIAL RECURRENT EROSION DYSTROPHY, LARSEN SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 1B, ERYTHROCYTOSIS, FAMILIAL, 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, BOOMERANG DYSPLASIA, PIEBALDISM, IRIDOGONIODYSGENESIS, TYPE 2, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, LYMPHEDEMA, HEREDITARY, ID, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AORTIC ANEURYSM, FAMILIAL THORACIC 6, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, ULNAR-MAMMARY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, AVASCULAR NECROSIS OF THE FEMORAL HEAD, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, OVARIAN DYSGENESIS 1, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, MENTAL RETARDATION, X-LINKED 46, TUMOR PREDISPOSITION SYNDROME, CHONDRODYSPLASIA, GREBE TYPE, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, OVARIAN RESPONSE TO FSH STIMULATION, LEGG-CALVE-PERTHES DISEASE, FACTOR XIIIA DEFICIENCY, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, NEUROCUTANEOUS MELANOSIS, SOMATIC, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ATRIAL FIBRILLATION, FAMILIAL, 6, SEA-BLUE HISTIOCYTE DISEASE, PARIETAL FORAMINA 1, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, CARDIOMYOPATHY, DILATED, 1U, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, ?GLYCOPROTEIN IA DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MOYAMOYA 6 WITH ACHALASIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CRANIOSYNOSTOSIS, TYPE 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, PSEUDOACHONDROPLASIA, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, CALCIUM OXALATE UROLITHIASIS, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SENIOR-LOKEN SYNDROME 4, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HETEROTAXY, VISCERAL, 5, MYOTUBULAR MYOPATHY, X-LINKED, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, FECHTNER SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PARIETAL FORAMINA 2, DEJERINE-SOTTAS DISEASE, CONGENITAL DIAPHRAGMATIC HERNIA, PARASTREMMATIC DWARFISM, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, AORTIC VALVE DISEASE 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CARDIOMYOPATHY, HYPERTROPHIC, 3, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), ALPORT SYNDROME, AUTOSOMAL DOMINANT, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 1}, HOLOPROSENCEPHALY-3, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPLENIC HYPOPLASIA, MECKEL SYNDROME 10, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, GREENBERG SKELETAL DYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 29, ESSENTIAL HYPERTENSION, HYPERPROINSULINEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, EBD, BART TYPE, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, OOCYTE MATURATION DEFECT 2, GLIOMA SUSCEPTIBILITY 1, DUANE-RADIAL RAY SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, AXENFELD-RIEGER SYNDROME, TYPE 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OSSEOUS HETEROPLASIA, PROGRESSIVE, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, IMMUNODEFICIENCY 11, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ACHONDROPLASIA, ADERMATOGLYPHIA, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CHOROID PLEXUS PAPILLOMA, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, SERKAL SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, OCULOECTODERMAL SYNDROME, INFANTILE MYOFIBROMATOSIS 1, MAST CELL DISEASE, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, LEFT VENTRICULAR NONCOMPACTION 7, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, VISCERAL MYOPATHY, DEAFNESS, AUTOSOMAL RECESSIVE 35, ?TETRA-AMELIA SYNDROME, CORNEAL DYSTROPHY, GROENOUW TYPE I, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BETHLEM MYOPATHY 1, SMALL CELL CANCER OF THE LUNG, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 12, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MYOTONIC DYSTROPHY 2, RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, ODONTOONYCHODERMAL DYSPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, CORNELIA DE LANGE SYNDROME 1, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ?OTOFACIOCERVICAL SYNDROME, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 14, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FIBROCHONDROGENESIS 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, DILATED CARDIOMYOPATHY 1DD, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, 46XY SEX REVERSAL 6, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, MAY-HEGGLIN ANOMALY, 46,XX SEX REVERSAL, TYPE 2, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, CATARACT 6, MULTIPLE TYPES, BRACHYDACTYLY, TYPE A1, D, SMED STRUDWICK TYPE, GILLESPIE SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, PORENCEPHALY 2, ATRIOVENTRICULAR SEPTAL DEFECT 5, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, NEPHROTIC SYNDROME, TYPE 4, RENAL ADYSPLASIA, ACROMICRIC DYSPLASIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, SPINOCEREBELLAR ATAXIA 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, LADD SYNDROME, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, AGAMMAGLOBULINEMIA 4, LEOPARD SYNDROME 3, RING DERMOID OF CORNEA, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, MASA SYNDROME, CRASH SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, BRACHYDACTYLY, TYPE B1, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, LEUKODYSTROPHY, HYPOMYELINATING, 9, MARSHALL SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, THANATOPHORIC DYSPLASIA, TYPE II, HYPERPARATHYROIDISM 1, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, CZECH DYSPLASIA, IMMUNODEFICIENCY 21, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, VENTRICULAR SEPTAL DEFECT 1, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ATRIAL FIBRILLATION, FAMILIAL, 11, GLUCOCORTICOID RESISTANCE, CARDIOMYOPATHY, DILATED, 1JJ, BARAITSER-WINTER SYNDROME 2, PELGER-HUET ANOMALY, TRANSALDOLASE DEFICIENCY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, VESICOURETERAL REFLUX 8, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, SUPRAVALVAR AORTIC STENOSIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, APLASIA OF LACRIMAL AND SALIVARY GLANDS, ACNE INVERSA, FAMILIAL, 3, PITT-HOPKINS SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, TRIGONOCEPHALY 1, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, PIERSON SYNDROME, HUNTINGTON DISEASE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, PULMONARY HYPERTENSION, PRIMARY, 2, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, THYROID HORMONE RESISTANCE, NEPHRONOPHTHISIS 4, DU PAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, CATSHL SYNDROME, URBACH-WIETHE DISEASE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, COWCHOCK SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 4, FUHRMANN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, KERATOSIS, SEBORRHEIC, SOMATIC, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, JACKSON-WEISS SYNDROME, INCONTINENTIA PIGMENTI, ARTHROGRYPOSIS, DISTAL, TYPE 2A, MULTIPLE ENDOCRINE NEOPLASIA 1, WAARDENBURG SYNDROME, TYPE 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, IVIC SYNDROME, SPLIT-HAND/FOOT MALFORMATION 1, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, ?DEAFNESS, X-LINKED 6, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, ?BARDET-BIEDL SYNDROME 11, THROMBOCYTHEMIA 3, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, ALZHEIMER DISEASE-2, IMMUNODEFICIENCY 33, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, LI-FRAUMENI SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?MYOSCLEROSIS, CONGENITAL, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, OPTIC NERVE HYPOPLASIA, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ALCOHOL DEPENDENCE, HYPERPARATHYROIDISM, NEONATAL, SVEINSSON CHOREORETINAL ATROPHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?MYOFIBROMATOSIS, INFANTILE 2, ECTOPIA LENTIS, FAMILIAL, {LEPROSY, SUSCEPTIBILITY TO}, EXUDATIVE VITREORETINOPATHY 4, IMMUNODEFICIENCY 8, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, PCWH SYNDROME, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, OPITZ GBBB SYNDROME, TYPE I, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LISSENCEPHALY 3, ?PRECOCIOUS PUBERTY, CENTRAL, 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WAGNER SYNDROME 1, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, SPONDYLOCOSTAL DYSOSTOSIS 5, GRISCELLI SYNDROME, TYPE 1, PANCREATIC CANCER/MELANOMA SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, WEAVER SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, TREACHER COLLINS SYNDROME 3, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, CRANIOSYNOSTOSIS, TYPE 1, PAGET DISEASE OF BONE 3, BRACHYDACTYLY, TYPE A2, LARYNGOONYCHOCUTANEOUS SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, NEPHROTIC SYNDROME, TYPE 12, TIETZ ALBINISM-DEAFNESS SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 7, DEAFNESS, AUTOSOMAL RECESSIVE 30, MENTAL RETARDATION, X-LINKED 90, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, WISKOTT-ALDRICH SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, NEPHROTIC SYNDROME, TYPE 6, DYSAUTONOMIA, FAMILIAL, CARDIOMYOPATHY, DILATED, 1II, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, ATELOSTEOGENESIS, TYPE III, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

516

CA2, CALM1, APOE, EZH2, LAMB1, FGFR1, LBR, GNAS, GLI3, COL3A1, PTPRO, CDC6, PAFAH1B1, PGR, NOG, EGR2, ITGA3, PEX13, RAB7A, TRIM32, HNF1A, VCAN, PRKCH, GFI1B, TGFBR2, CREBBP, EFNB1, STXBP1, RASA1, TRPV4, SOX2, ERBB3, RASSF1, POMC, ISG15, P4HB, SQSTM1, DAG1, MTOR, LAMA1, PTH, BMPR1A, PIK3CD, CALR, AIFM1, TUBB2B, CCND1, JAK2, SPARC, COL4A6, MIB1, ITPR1, VEGFC, ROR2, CD36, T, PPP2R2B, ZIC3, HTR2A, TYK2, TNC, ACVR1B, CAV3, TGFBR1, DDR2, SMAD4, NLGN3, DVL3, ETV6, GDNF, CD40LG, PDGFRB, LAMA3, PITX2, PPP2R1A, TUBB, AKT1, KAT5, DIAPH1, NPHS1, DYRK1A, CHEK2, HGF, TWIST1, A2M, CSNK1D, IL1B, NRL, CLDN1, MUSK, CALCR, PTPRZ1, KNG1, LRP5, AURKA, FRZB, HNRNPK, TUBG1, HTR1A, LAMC2, LAMA2, PIK3R2, PTPN11, CXCR4, GATA4, LRPAP1, RARS, PLCB1, VPS11, ENG, FLT3, COL5A2, WNT10A, COL4A3, EPHA2, PAK3, THBS4, SMAD6, CTCF, SNAP25, EGFR, NR3C1, FGF10, WNT10B, TUBA8, CTNNA1, DNM2, GJB6, KMT2A, MYC, NAA10, SCRIB, ACTB, CACNA1B, PSEN1, COL11A2, ACAN, ITGA2B, ITGA8, MYH7, COL6A1, WT1, NR2F1, COL4A5, IKBKAP, SPTAN1, GDF5, TGFBI, PIK3R5, ARHGDIA, ERBB2, AHSG, SLC9A3, CD81, SF3B4, TNXB, SOX9, TGFB2, LRP6, MMP2, HOXB1, MAP2K2, NPPA, DRD3, ADCY6, FSHR, ACTN1, VWF, NOTCH1, MYCN, ERCC3, CORO1A, EDNRA, MEF2C, FZD4, STAR, MSX2, B9D2, PRKACG, CRYAB, MYOM1, JUP, MEN1, PRKG1, ACTA2, RB1, TNFRSF11A, STAT3, BRAF, KAT6A, DMD, SOS2, NCF1, LIMS2, ALPL, MYOC, BLNK, IGF1, F13A1, FLT4, SMAD9, MEF2A, CRB1, COL4A4, BMP2, HRAS, DRD2, VDR, DVL1, ATXN1, AXIN2, TP53, LRP2, IKBKB, SNCA, PRKCG, ERBB4, PTPRJ, ESRRB, GUCY1A3, KIT, MYH6, AR, DLG3, KCNMA1, NODAL, PPP2R5D, PAX3, ACTG1, ALB, ASXL1, TGFB1, PIP5K1C, RRAS2, CARD11, MAP3K1, CACNA1C, MUT, PLG, DNMT1, ACTN4, IL6, PIK3R1, DCN, PCNA, POLR1C, APC, MAPT, PTPRF, SMAD3, TUBB8, HSPG2, ESR1, ITGA6, SERPINE1, ATIC, MPDZ, F2, ADCY1, MYH14, FSHB, ADRB2, SALL1, TPM1, AKT3, IGBP1, IKBKG, AGT, GNAI3, CDK5, KDM1A, NPHP4, CDH1, WNT5A, PLAU, GJA5, MYO3A, SALL4, LAMB2, FGFR4, COL10A1, PIK3CA, WNT1, JAG1, TEK, CNBP, FZD6, ECM1, GATA3, COL2A1, BAP1, MYH2, ACTA1, SMARCA4, RUNX1, CBL, RB1CC1, LZTR1, IGF2, NOS3, TIA1, TNF, GATA2, SOX3, EDA, MET, COL1A2, ITGA2, COMP, PLOD3, TUBB4A, MMP13, NFKBIA, TALDO1, CD44, FOXO1, GJB1, SPRY2, PTPN1, GSC, CLDN16, RPS6KA3, WAS, ALX4, INS, MYO5A, COL7A1, PFKM, ITGB3, PAX2, TJP2, TLR2, VHL, COL4A1, RAPSN, GRIN2B, TBX5, ITGB2, FN1, TUBB3, NGF, ITPR2, KLF1, COL18A1, FBN1, AKT2, RAF1, PTS, IHH, LAMC3, CDK4, TRPM7, PTEN, FGFR3, SLC9A3R1, TNNT2, CFTR, SOX10, NRAS, IRS1, PRKCD, EPHB2, WNT3, JAK3, TBP, MYH9, COL11A1, ITGB4, ACVR1, TCF4, SERPINA1, SOS1, ZHX2, GATA6, APP, GRM1, EDNRB, ACTN2, MYH8, OCLN, HTRA1, FLNB, GCGR, PDGFB, SMARCAD1, CAV1, CLDN14, PRPH, TUBA4A, MYD88, ITGB6, TUBB1, TBX3, HAX1, COL5A1, OTX2, PTHLH, KISS1R, CTNNB1, BTK, COL27A1, COL6A3, CDKN2A, VIM, BMP4, SNAI2, WNT4, GNAI2, CD40, EMD, THRB, MITF, WNT7A, KRAS, GLI2, PAX6, NKX2-5, TCF7L2, LRP1, MID1, LHX3, COL1A1, LIFR, CLDN19, CSRP3, HTT, RELN, COL4A2, NCF2, EP300, TAF1, ARHGEF6, MAX, NOTCH3, EYA1, EDN1, PCBD1, HCFC1, ADCY5, JAM3, BMPR2, PLIN1, PLK4, RET, KCNJ11, GNA11, GJA1, ACE, DYSF, MYH3, ZIC2, COL17A1, MYLK, TEAD1, CASR, LAMB3, MAK, SIX1, LAMA4, CCND2, GNAQ, TUBB2A, PRKDC, BRCA1, IGF1R, TRPC3, LDLR, AXIN1, TUBA1A, NUP93, CCL2, COL6A2, LDB3, ITPR3, FGF9, TH, SNAP29, INPPL1, DLX5, RUNX2, HESX1, FLNA, MYH11, BIN1, LYZ, COL25A1, BMPR1B, ATM, CASK, NFKB1, NEB, PRKACA, GATA5, INSR, MYLK2, SERPINH1, FGFR2, CTNNA3, HOXA2, PDGFRA, L1CAM, FLNC, TBX6, ZFHX3, ITGA7, SELE, GNRH1, BCR, NR0B2, ATR, PLCB4, KDR, MTRR, PORCN, PPP2R1B, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Cancers: OverviewYesN8.34569e-111.351213

MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, ROBINOW-SORAUF SYNDROME, LONG QT SYNDROME 12, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPERFERRITINEMIA-CATARACT SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 20, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ATROPHODERMA VERMICULATUM, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, VERHEIJ SYNDROME, ?GLYCOPROTEIN IA DEFICIENCY, 46XY SEX REVERSAL 9, KERATITIS, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, MIRROR MOVEMENTS 1, ALOPECIA UNIVERSALIS, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ENDOCRINE-CEREBROOSTEODYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, DEAFNESS, AUTOSOMAL DOMINANT 17, ?IMMUNODEFICIENCY 39, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, PULMONARY VENOOCCLUSIVE DISEASE 1, ODONTOONYCHODERMAL DYSPLASIA, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, HYPERPROINSULINEMIA, MYOPIA 6, SPECIFIC GRANULE DEFICIENCY, RETINITIS PIGMENTOSA, DYSTONIA-11, MYOCLONIC, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, AMELOGENESIS IMPERFECTA, TYPE IA, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, POROKERATOSIS 3, MULTIPLE TYPES, HOLOPROSENCEPHALY-9, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, BRACHIOOTIC SYNDROME 3, FRONTOTEMPORAL DEMENTIA, THROMBOCYTOPENIA 5, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, VERTICAL TALUS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, MULTIPLE SYNOSTOSES SYNDROME 1, HERMANSKY-PUDLAK SYNDROME 1, ?RETINAL ARTERIES, TORTUOSITY OF, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, ALPHA-2-MACROGLOBULIN DEFICIENCY, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, TRICHOMEGALY, MUIR-TORRE SYNDROME, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, SPINOCEREBELLAR ATAXIA 27, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, NEUROFIBROMATOSIS, FAMILIAL SPINAL, MACULAR DYSTROPHY, RETINAL, 2, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, VAN BUCHEM DISEASE, TYPE 2, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, CORNELIA DE LANGE SYNDROME 1, LEUKODYSTROPHY, HYPOMYELINATING, 11, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BOHRING-OPITZ SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, ACHONDROPLASIA, INCONTINENTIA PIGMENTI, RIPPLING MUSCLE DISEASE, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, C3 DEFICIENCY, SPINOCEREBELLAR ATAXIA 15, WAARDENBURG SYNDROME, TYPE 3, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, FAVISM, [BILIRUBIN, SERUM LEVEL OF, QTL1], AORTIC ANEURYSM, FAMILIAL THORACIC 8, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, MENTAL RETARDATION, X-LINKED 102, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, CATARACT 16, MULTIPLE TYPES, SYNDACTYLY, TYPE III, NAXOS DISEASE, ENCEPHALOPATHY, NEONATAL SEVERE, BENIGN FAMILIAL HEMATURIA, IMMUNODEFICIENCY 44, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, THROMBOCYTOPENIA 4, FANCONI-BICKEL SYNDROME, SPLIT-HAND/FOOT MALFORMATION 6, FAMILIAL COLORECTAL CANCER, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, EPIDERMOLYSIS BULLOSA, PRETIBIAL, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, BURKITT LYMPHOMA, SEA-BLUE HISTIOCYTE DISEASE, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOTRICHOSIS 4, ?TETRA-AMELIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, HOLT-ORAM SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 11, MYOPATHY, MYOFIBRILLAR, 5, HAY-WELLS SYNDROME, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, WAARDENBURG SYNDROME, TYPE 4C, LISSENCEPHALY 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, SEBASTIAN SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, LOEYS-DIETZ SYNDROME 1, BRUGADA SYNDROME 1, EMBERGER SYNDROME, IMMUNODEFICIENCY 12, CULLER-JONES SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, IMMUNODEFICIENCY 38, CREATINE PHOSPHOKINASE, ELEVATED SERUM, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, MIRROR MOVEMENTS 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), ?WEBB-DATTANI SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ATRIAL SEPTAL DEFECT 2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, TRIGONOCEPHALY 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, DESMOID DISEASE, HEREDITARY, CALCIUM OXALATE UROLITHIASIS, MODY, TYPE III, MUENKE SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, OPSISMODYSPLASIA, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, MEIER-GORLIN SYNDROME 2, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, CORNELIA DE LANGE SYNDROME 5, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, HEMOCHROMATOSIS TYPE 1, MYELOPEROXIDASE DEFICIENCY, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, [GILBERT SYNDROME], MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, FRONTONASAL DYSPLASIA 2, BETHLEM MYOPATHY 1, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, MECONIUM ILEUS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, TUBEROUS SCLEROSIS-1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, GLAUCOMA 1A, PRIMARY OPEN ANGLE, FRONTOMETAPHYSEAL DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, TOOTH AGENESIS, SELECTIVE, 1, WITH OR WITHOUT OROFACIAL CLEFT, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, VAN DEN ENDE-GUPTA SYNDROME, NAIL-PATELLA SYNDROME, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, IMAGE SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, BARBER-SAY SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, MENTAL RETARDATION, X-LINKED 72, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, PLEUROPULMONARY BLASTOMA, LISSENCEPHALY 5, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, ?WAISMAN SYNDROME, DEAFNESS, X-LINKED 5, MELNICK-FRASER SYNDROME, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, KOWARSKI SYNDROME, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, CORTICAL MALFORMATIONS, OCCIPITAL, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, CARNEY COMPLEX, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, ABCD SYNDROME, METACARPAL 4-5 FUSION, LEUKEMIA, CHRONIC MYELOID, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 39, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, NOONAN SYNDROME 7, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, PREMATURE OVARIAN FAILURE 7, CROUZON SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, METATROPIC DYSPLASIA, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, OSTEOGENESIS IMPERFECTA, TYPE XV, AGAMMAGLOBULINEMIA 3, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, QUEBEC PLATELET DISORDER, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SYMPHALANGISM, PROXIMAL, 1A, FRASIER SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, HOLOPROSENCEPHALY-5, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, ATRIOVENTRICULAR SEPTAL DEFECT 5, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, BRACHYOLMIA TYPE 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, TYROSINEMIA, TYPE II, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, PROSTATE CANCER 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ANEMIA, SIDEROBLASTIC, 4, AORTIC ANEURYSM, FAMILIAL THORACIC 4, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, SMED STRUDWICK TYPE, ?RETINITIS PIGMENTOSA 67, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?FIBROMATOSIS, GINGIVAL, 1, MISMATCH REPAIR CANCER SYNDROME, OPTIC ATROPHY 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NON-IMMUNE HYDROPS FETALIS, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ATELOSTEOGENESIS, TYPE I, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, ?PROGESTERONE RESISTANCE, COMPLEMENT FACTOR D DEFICIENCY, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, WATSON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WEAVER SYNDROME, BLAU SYNDROME, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?SPINOCEREBELLAR ATAXIA 26, PACHYONYCHIA CONGENITA 2, PANHYPOPITUITARISM, X-LINKED, MACHADO-JOSEPH DISEASE, AMYOTROPHIC LATERAL SCLEROSIS 19, DEAFNESS, AUTOSOMAL DOMINANT 23, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, LEIOMYOMATOSIS AND RENAL CELL CANCER, LEOPARD SYNDROME 3, SPHEROCYTOSIS, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, HYPOPHOSPHATASIA, INFANTILE, FUMARASE DEFICIENCY, HEPATIC ADENOMA, SOMATIC, CORNEAL DYSTROPHY, CONGENITAL STROMAL, KABUKI SYNDROME 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, NEUROFIBROMATOSIS, TYPE 1, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MYXOMA, INTRACARDIAC, MEIER-GORLIN SYNDROME 5, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, CLEFT PALATE, ISOLATED, POLYDACTYLY, PREAXIAL, TYPE IV, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CARDIOMYOPATHY, DILATED, 1NN, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, HETEROTOPIA, PERIVENTRICULAR, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, CILIARY DYSKINESIA, PRIMARY, 33, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, TOOTH AGENESIS, SELECTIVE, 4, CARDIOMYOPATHY, HYPERTROPHIC, 12, HEMOCHROMATOSIS, TYPE 2B, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, CATARACT 5, MULTIPLE TYPES, SOTOS SYNDROME 1, CRANIOSYNOSTOSIS, TYPE 2, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, NOONAN SYNDROME 9, ?RENAL HYPODYSPLASIA/APLASIA 2, PRIMARY PULMONARY HYPERTENSION, JOUBERT SYNDROME 5, DENYS-DRASH SYNDROME, ?SPINOCEREBELLAR ATAXIA 41, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, TOOTH AGENESIS, SELECTIVE, 7, COFFIN-SIRIS SYNDROME 3, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, LONG QT SYNDROME 14, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, RHEUMATOID ARTHRITIS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, TARSAL-CARPAL COALITION SYNDROME, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, BEHR SYNDROME, MALFORMATION OF THE HEART, OVARIAN RESPONSE TO FSH STIMULATION, EPIDERMAL NEVUS, HYPOMAGNESEMIA 6, RENAL, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, CARDIOMYOPATHY, HYPERTROPHIC, 3, CORNEAL DYSTROPHY, AVELLINO TYPE, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SEGAWA SYNDROME, RECESSIVE, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, CORTISONE REDUCTASE DEFICIENCY 2, COFFIN-LOWRY SYNDROME, IMMUNODEFICIENCY 36, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, OPTIC ATROPHY PLUS SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE 2, EVEN-PLUS SYNDROME, RETINITIS PIGMENTOSA 37, DEAFNESS, AUTOSOMAL DOMINANT 56, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, HARTSFIELD SYNDROME, KNOBLOCH SYNDROME 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, MODY, TYPE II, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, CRIGLER-NAJJAR SYNDROME, TYPE I, BRACHYDACTYLY, TYPE E2, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LAMB-SHAFFER SYNDROME, PICK DISEASE, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, VENTRICULAR SEPTAL DEFECT 3, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, {MELANOMA, CUTANEOUS MALIGNANT, 3}, RUBINSTEIN-TAYBI SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMMON VARIABLE IMMUNODEFICIENCY 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, ?NEUTROPHILIA, HEREDITARY, LACTASE PERSISTENCE/NONPERSISTENCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ALAGILLE SYNDROME, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, SPONDYLOPERIPHERAL DYSPLASIA, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, CORNEAL DYSTROPHY, GROENOUW TYPE I, DYSTONIA 25, ?MYASTHENIC SYNDROME, CONGENITAL, 18, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BECKER MUSCULAR DYSTROPHY, DEAFNESS, AUTOSOMAL DOMINANT 64, ADRENAL CORTICAL CARCINOMA, MICROPHTHALMIA, ISOLATED 8, OROFACIAL CLEFT 11, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 1, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, AMYLOIDOSIS, FINNISH TYPE, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23, COLOBOMA, OCULAR, SPINOCEREBELLAR ATAXIA 17, OSTEOGENESIS IMPERFECTA, TYPE III, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, SED, MAROTEAUX TYPE, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, BRANCHIOOTIC SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, CORNEAL FLECK DYSTROPHY, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, ROBINOW SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, EPITHELIAL RECURRENT EROSION DYSTROPHY, IMMUNODEFICIENCY 42, LARSEN SYNDROME, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, SECKEL SYNDROME 1, PIEBALDISM, IRIDOGONIODYSGENESIS, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, LYMPHEDEMA, HEREDITARY, ID, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AORTIC ANEURYSM, FAMILIAL THORACIC 6, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, ULNAR-MAMMARY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, POROKERATOSIS 7, MULTIPLE TYPES, 3MC SYNDROME 1, ?PARKINSONISM WITH SPASTICITY, X-LINKED, HYPOBETALIPOPROTEINEMIA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, OVARIAN DYSGENESIS 1, CRIGLER-NAJJAR SYNDROME, TYPE II, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NEUROFIBROMATOSIS, TYPE 2, ERYTHROCYTOSIS, FAMILIAL, 3, CARDIOMYOPATHY, DILATED, 1E, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, STRIATONIGRAL DEGENERATION, INFANTILE, LEGG-CALVE-PERTHES DISEASE, PARIETAL FORAMINA 1, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATRIAL FIBRILLATION, FAMILIAL, 6, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, CEROID LIPOFUSCINOSIS, NEURONAL, 11, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, XERODERMA PIGMENTOSUM, GROUP D, CARDIOMYOPATHY, DILATED, 1U, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, FAILURE OF TOOTH ERUPTION, PRIMARY, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, IMMUNODEFICIENCY, COMMON VARIABLE, 10, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, CRANIOFRONTONASAL DYSPLASIA, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MACULAR DYSTROPHY, PATTERNED, 2, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, ?MYOFIBROMATOSIS, INFANTILE 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, EHLERS-DANLOS SYNDROME, TYPE 3, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, DIARRHEA 6, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ABDOMINAL OBESITY-METABOLIC SYNDROME 3, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, PARTINGTON SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HETEROTAXY, VISCERAL, 5, MYOTUBULAR MYOPATHY, X-LINKED, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, FECHTNER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, ?LICHTENSTEIN-KNORR SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, ATRIAL SEPTAL DEFECT 9, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, PARIETAL FORAMINA 2, DEJERINE-SOTTAS DISEASE, MYOPATHY, DISTAL, 4, DEAFNESS, AUTOSOMAL RECESSIVE 24, CONGENITAL DIAPHRAGMATIC HERNIA, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, PARASTREMMATIC DWARFISM, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, MYOPATHY, DISTAL, TATEYAMA TYPE, LOEYS-DIETZ SYNDROME 2, ATRANSFERRINEMIA, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, LOEYS-DIETZ SYNDROME 3, AORTIC VALVE DISEASE 2, CATSHL SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, FACTOR V DEFICIENCY, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, LYSYL HYDROXYLASE 3 DEFICIENCY, SADDAN, DIAMOND-BLACKFAN ANEMIA 9, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, PULMONARY HYPERTENSION, PRIMARY, 3, GIANT AXONAL NEUROPATHY-1, ANGELMAN SYNDROME, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 1}, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, ATRICHIA WITH PAPULAR LESIONS, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, BOOMERANG DYSPLASIA, SPLENIC HYPOPLASIA, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, FOVEAL HYPOPLASIA 1, EBD, BART TYPE, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, SPINOCEREBELLAR ATAXIA 14, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, SICK SINUS SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 2, CALCIFICATION OF JOINTS AND ARTERIES, GLIOMA SUSCEPTIBILITY 1, DUANE-RADIAL RAY SYNDROME, PITT-HOPKINS SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HYPOPHOSPHATEMIC RICKETS, AR, ACROCAPITOFEMORAL DYSPLASIA, {GLIOBLASTOMA 3}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, AXENFELD-RIEGER SYNDROME, TYPE 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, DYSAUTONOMIA, FAMILIAL, SENIOR-LOKEN SYNDROME 6, LIMB-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 11, ABLEPHARON-MACROSTOMIA SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, {BLEPHAROSPASM, PRIMARY BENIGN}, SERKAL SYNDROME, STIFF SKIN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, BEARE-STEVENSON CUTIS GYRATA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, TOOTH AGENESIS, SELECTIVE, 3, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, CORNELIA DE LANGE SYNDROME 3, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, CORNELIA DE LANGE SYNDROME 2, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, GLAUCOMA 1, OPEN ANGLE, E, ATRIAL SEPTAL DEFECT 5, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, OCULOECTODERMAL SYNDROME, DYSTONIA 9, INFANTILE MYOFIBROMATOSIS 1, HYPOTRICHOSIS 8, LEFT VENTRICULAR NONCOMPACTION 7, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, VISCERAL MYOPATHY, DEAFNESS, AUTOSOMAL RECESSIVE 35, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, SMALL CELL CANCER OF THE LUNG, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, CARDIOMYOPATHY, DILATED, 1JJ, PEUTZ-JEGHERS SYNDROME, MYOTONIC DYSTROPHY 2, HOLOPROSENCEPHALY-3, ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, SPONDYLOCOSTAL DYSOSTOSIS 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, VENTRICULAR SEPTAL DEFECT 1, CEREBELLOFACIODENTAL SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, EPIDERMOLYSIS BULLOSA PRURIGINOSA, PROUD SYNDROME, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, ALAGILLE SYNDROME 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, PLASMA FIBRONECTIN DEFICIENCY, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ?OTOFACIOCERVICAL SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, [PREMATURE CHROMATID SEPARATION TRAIT], AYME-GRIPP SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, HOLOPROSENCEPHALY-7, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, [BONE MINERAL DENSITY VARIABILITY 1], MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BRACHYDACTYLY, TYPE B2, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, HYPOPLASTIC LEFT HEART SYNDROME 1, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, HOLOPROSENCEPHALY 11, ?CATARACT 30, PULVERULENT, 46XY SEX REVERSAL 6, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, MAY-HEGGLIN ANOMALY, MARFAN LIPODYSTROPHY SYNDROME, 46,XX SEX REVERSAL, TYPE 2, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, CATARACT 6, MULTIPLE TYPES, BRACHYDACTYLY, TYPE A1, D, HYPOTHYROIDISM, CENTRAL, AND TESTICULAR ENLARGEMENT, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, STICKLER SYNDROME, TYPE I, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, PORENCEPHALY 2, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, NEPHROTIC SYNDROME, TYPE 4, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, ACROMICRIC DYSPLASIA, ERYTHROCYTOSIS, FAMILIAL, 2, CUTIS LAXA, AD, BRACHYDACTYLY, TYPE A1, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, STEATOCYSTOMA MULTIPLEX, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, NEPHROTIC SYNDROME, TYPE 3, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, PARKINSON DISEASE, JUVENILE, TYPE 2, SPERMATOGENIC FAILURE 8, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, LONG QT SYNDROME-3, PALLISTER-HALL SYNDROME, RETINITIS PIGMENTOSA 41, RING DERMOID OF CORNEA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MASA SYNDROME, CRASH SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, RETINITIS PIGMENTOSA 60, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE I, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BRANCHIOOCULOFACIAL SYNDROME, HYPERPARATHYROIDISM 1, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, FRASER SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, CZECH DYSPLASIA, IMMUNODEFICIENCY 21, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, TREACHER COLLINS SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, BRACHYDACTYLY, TYPE B1, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CONE-ROD DYSTROPHY 2, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, GLUCOCORTICOID RESISTANCE, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, ATELEIOTIC DWARFISM, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, BARAITSER-WINTER SYNDROME 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, [NOVELTY SEEKING PERSONALITY], NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, GILLESPIE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MYOPATHY, MYOFIBRILLAR, 2, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, VESICOURETERAL REFLUX 8, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA, X-LINKED 1, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, DIABETES INSIPIDUS, NEPHROGENIC, AURICULOCONDYLAR SYNDROME 3, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, GLYCOGEN STORAGE DISEASE XII, APLASIA OF LACRIMAL AND SALIVARY GLANDS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, THYROID HORMONE RESISTANCE, {GLIOMA SUSCEPTIBILITY 9}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ACNE INVERSA, FAMILIAL, 3, MENTAL RETARDATION, X-LINKED 29 AND OTHERS, KAPPA LIGHT CHAIN DEFICIENCY, NOONAN SYNDROME 4, ADULT SYNDROME, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, PIERSON SYNDROME, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, MODY, TYPE I, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, TATTON-BROWN-RAHMAN SYNDROME, HYPOTRICHOSIS 2, OCULODENTODIGITAL DYSPLASIA, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, DIGITAL CLUBBING, ISOLATED CONGENITAL, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, ENHANCED S-CONE SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PITUITARY DEPENDENT HYPERCORTISOLISM, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, SPINOCEREBELLAR ATAXIA 36, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ACETYL-COA CARBOXYLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO G6PD DEFICIENCY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, COWCHOCK SYNDROME, NEUTROPENIA, CYCLIC, ATRIOVENTRICULAR SEPTAL DEFECT 4, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, UROFACIAL SYNDROME 1, KERATOSIS, SEBORRHEIC, SOMATIC, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, LYNCH SYNDROME I, JACKSON-WEISS SYNDROME, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, {BUDD-CHIARI SYNDROME}, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, TUBEROUS SCLEROSIS 2, EXUDATIVE VITREORETINOPATHY 1, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FACTOR X DEFICIENCY, MAST CELL DISEASE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, IVIC SYNDROME, SPLIT-HAND/FOOT MALFORMATION 1, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SCHOPF-SCHULZ-PASSARGE SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, CARDIOMYOPATHY, HYPERTROPHIC, 11, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, ?DEAFNESS, X-LINKED 6, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, THROMBOCYTHEMIA 3, TREMOR, HEREDITARY ESSENTIAL, 4, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, CORNELIA DE LANGE SYNDROME 4, ALZHEIMER DISEASE-2, IMMUNODEFICIENCY 33, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, RETINITIS PIGMENTOSA 13, CHOREA, HEREDITARY BENIGN, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), CORPUS CALLOSUM, PARTIAL AGENESIS OF, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, OPTIC NERVE HYPOPLASIA, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), MYHRE SYNDROME, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, GENITOPATELLAR SYNDROME, ALCOHOL DEPENDENCE, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ECTOPIA LENTIS, FAMILIAL, {LEPROSY, SUSCEPTIBILITY TO}, ATRIAL STANDSTILL 2, EXUDATIVE VITREORETINOPATHY 4, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, {PARKINSON DISEASE 18}, PCWH SYNDROME, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, BLEEDING DISORDER, PLATELET-TYPE, 17, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WAGNER SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, SORSBY FUNDUS DYSTROPHY, GLYCOGEN STORAGE DISEASE X, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, WILSON-TURNER SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, GRISCELLI SYNDROME, TYPE 1, PANCREATIC CANCER/MELANOMA SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, ANDROGEN INSENSITIVITY, ?SPERMATOGENIC FAILURE 13, WOLCOTT-RALLISON SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, ALEXANDER DISEASE, PEELING SKIN SYNDROME 1, CATARACT 21, MULTIPLE TYPES, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, SHPRINTZEN-GOLDBERG SYNDROME, EIKEN SYNDROME, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, CRANIOSYNOSTOSIS, TYPE 1, PAGET DISEASE OF BONE 3, MENTAL RETARDATION, X-LINKED 58, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, LARYNGOONYCHOCUTANEOUS SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, UTERINE LEIOMYOMA, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, NEPHROTIC SYNDROME, TYPE 12, TIETZ ALBINISM-DEAFNESS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 2, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, WISKOTT-ALDRICH SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, BREAST-OVARIAN CANCER, FAMILIAL 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, KABUKI SYNDROME 1, NEPHROTIC SYNDROME, TYPE 6, HERMANSKY-PUDLAK SYNDROME 7, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, CARDIOMYOPATHY, DILATED, 1II, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ATRIAL FIBRILLATION, FAMILIAL, 10, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, [ACETYLATION, SLOW], PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, ADAMS-OLIVER SYNDROME 3, TANGIER DISEASE, ATELOSTEOGENESIS, TYPE III, SMITH-KINGSMORE SYNDROME

801

CALM1, TSC2, RPL5, EZH2, LAMB1, GPI, RASGRP2, HSPB1, APOE, CYP2C19, GNAS, IGF2R, GLI3, TBXA2R, ATP6V1B1, FTL, MSH6, KRIT1, DOCK7, CD82, PTPRO, PCYT1A, CDC6, KDM6A, B2M, AKT2, NOG, VARS2, SCARF2, ITGA3, FH, GAS8, FZD4, WNK1, PRKCH, GFI1B, ATN1, HPSE2, CREBBP, BCKDHA, MAFB, NONO, NF2, ERBB2, GH1, SOX2, APOA1, RASSF1, CALCR, AR, CD79A, CUL3, MLLT10, PAXIP1, DAG1, GLI2, BUB1B, CIITA, MTOR, LAMA1, HMGA1, LEP, TNXB, PIK3CD, IFNG, AIFM1, CBL, SMARCE1, CCND1, JAK2, ANK1, NKX2-1, COL4A6, MIB1, ITPR1, ADH1B, VEGFC, HSPD1, ROR2, FUS, RPS10, NTF3, KRAS, LPP, PGAM2, HTR2A, TP63, DUSP6, DNMT3A, SMC3, GATA1, CAV3, TUBG1, ALDOA, CTNNB1, GABBR2, SMAD4, NLGN3, DVL3, ETV6, GDNF, CEP290, INSR, CD40LG, HDAC6, TNFSF11, LAMA3, ALDH2, HSF4, NUP62, GP6, PPP2R1A, HES7, AKT1, SLC9A1, KAT5, UBA1, PRKCD, BRIP1, DYRK1A, ZNF423, HGF, TWIST1, A2M, CSNK1D, IL1B, HOXA11, HSPA9, EFNB1, RAF1, ECHS1, DIABLO, HAMP, CRYAB, NOD2, MCM6, PTPRZ1, EYA1, TAT, CSF1R, ZFPM2, FGF23, MLF1, AURKA, AQP5, HTR1A, INPPL1, KNG1, LAMA2, PUF60, PTPN11, CXCR4, SOS2, GATA4, LRPAP1, SPG7, DICER1, SPRY4, FGF5, NR4A2, FLT3, HLA-B, HOXC13, WNT10A, HR, EGR2, PDGFRB, COL4A3, EPHA2, STAR, ANK3, BDNF, RAB7A, CALR, POT1, MEF2A, KAT6A, EPS8, ATXN3, TF, POLR3B, CD36, ALB, FGF10, TSC1, HRAS, PAX8, ACE, ACTG2, DGKE, HPGD, MAD1L1, PEX14, DNM2, PLCB1, APOB, ORC4, MMP1, SCRIB, F5, GRN, PSEN1, TCF7L2, ST3GAL3, GFAP, UGT1A4, CEBPE, CDK4, BMP2, MYOC, TAF4B, HNRNPK, KMT2A, NDUFS4, WT1, COL4A5, SPTAN1, CYCS, MPO, SOS1, PTPN1, POR, ARHGDIA, MITF, EPHB2, MVD, NR2E3, GNAI2, SF3B4, TGFBR2, SOX9, TGFB2, ACTC1, CNTN2, HOXB1, MAP2K2, HLA-C, NPPA, DRD3, ADCY6, NME1, SP7, TRPV4, ACTN1, IL12B, NOTCH1, CYP1B1, NBN, MYCN, MYO5A, ERCC3, MXI1, CYP3A5, NPM1, EDNRA, MEF2C, SCARB2, CFL2, VCAN, PAX9, MSX2, ESR1, PIGT, PRKACG, PTH, PAX7, PTH1R, JUP, PIKFYVE, KAT6B, MEN1, PRKG1, ACTA2, RB1, TNFRSF11A, STAT3, RARB, BRAF, SNAP25, LAMB3, MALT1, NCF1, SMAD6, ALPL, SLC2A2, IGF1, RASA1, FLT4, CTCF, NEUROD1, KLC2, EEF2, SART3, NFKB2, STX16, COL4A4, COL1A1, ALOX5, EDNRB, SMC1A, DRD2, SLC5A7, EIF4G1, PCSK1, FGFR1, FOXP1, DVL1, PARK2, AXIN2, ETFA, EGFR, NCF2, LRP2, IKBKB, CASP8, SKI, LHX4, SNTA1, AQP2, SNCA, KCNQ2, HK1, NF1, TJP2, IRF1, MAF, ESRRB, ITGA6, KIT, TSPAN7, BCR, MPDZ, USH2A, VDR, BARD1, ISG15, DLG3, SETX, NODAL, PTS, PDHX, XPR1, TRAC, ACTG1, NR3C1, ASXL1, ASCL1, NR5A1, ITGB4, PLCE1, PRPF6, PIP5K1C, RRAS2, CARD11, EIF2AK3, STAT1, APPL1, MAP3K1, CACNA1C, ATXN1, SLC34A1, NOTCH2, SLC2A4, TP53, BLM, DNMT1, ACTN4, LRP5, PIK3R1, PHB, DCN, PCSK9, PCNA, POLR1C, GATAD2B, APC, TUFM, FTH1, WNT4, RNASEL, ADAM17, TIMP3, PROM1, SMAD3, TLR2, HSPG2, TNF, CFD, WNT10B, ODC1, F10, SERPINE1, IL21, GCGR, ERBB3, DYRK1B, CHRNA4, F2, ADCY1, PAFAH1B1, CTNNA1, ADRB2, SALL1, RAD21, TPM1, AKT3, FAS, CDK6, IKBKG, HLA-G, MSX1, PLCD1, MUC1, MAG, AGT, IGKC, GNAI3, RAB39B, CDK5, NOTCH3, KDM1A, CDH1, SMN2, ZEB2, SHANK3, PLAU, FRZB, STK11, FGF17, EGLN1, PRPF8, FGF3, SALL4, CDKN1C, BCOR, PPP1R15B, LAMB2, FGFR4, NOP56, PIK3CA, HOXD10, GNAL, PICALM, PRKCG, JAG1, HNRNPA1, ST14, FZD6, GATA3, COL2A1, RBPJ, ERBB4, ARNT2, ACTA1, VRK1, ACTB, GRIP1, ACVR1, SMARCA4, RUNX1, IL10, TWIST2, FIBP, AKAP10, GPC3, IGF2, NEK2, NOS3, NR1I3, LAMC2, CAD, GATA2, ADH1C, SOX3, EDA, MET, SQSTM1, NTRK1, COL1A2, ITGA2, PER2, PLOD3, PTGER2, MMP13, GNAQ, NFKBIA, ICK, SDC3, IRF8, CD44, FOXO1, RUNX2, FKBP14, TMEM173, SPRY2, MLH1, GUCY2C, GSC, SLC22A4, RPS6KA3, TFG, VCP, ALX4, MAPK8IP1, INS, CDON, PIK3R2, HAX1, COL7A1, GNB4, PFKM, ITGB3, CDSN, HSD17B10, AGTR1, SLC22A5, PPM1D, C3, PAX2, LMX1B, HLA-DRB1, FLNA, SYN1, CNTN1, RORC, VHL, COL4A1, RAPSN, GRIN2B, RDX, TNFRSF1A, BRCA1, ITGB2, PTHLH, FN1, CNNM2, KCNMA1, ITPR2, CYBB, ACACA, FOXC2, COL18A1, GFI1, ATP5A1, ALDH1A3, SLC9A3R1, IHH, T, LAMC3, ITGA2B, RHO, HNF1A, TSHR, MYC, PTEN, FGFR3, PAX3, PIK3R5, GSN, STAT2, SOX10, NRAS, FGF14, SMARCB1, HDAC8, UBB, NOS2, TLR4, EIF2B1, WNT3, KMT2C, AKR1C2, JAK3, FGF9, TBP, MYH9, WNT1, TGFB1, DMD, WAS, KITLG, TCF4, FSHR, FADD, IL13, SCN5A, FGF16, BAX, ATP6AP2, ZHX2, GATA6, DTNBP1, APP, KMT2D, TNC, CRB2, IRS2, ACTN2, CD27, SLC2A1, TAF2, HMGA2, FLNB, NSD1, PDGFB, BRCA2, USP8, CAV1, DRD4, IGSF1, KISS1, CNBP, DMP1, PRKACA, CHEK2, NT5E, MYD88, SOX5, DDX3X, TBX3, TGFBI, IRF7, PPARG, NAT2, COL5A1, ARHGEF9, OTX2, PRKAR1A, GAN, EDN1, PGK1, BTK, ING1, PLG, CDKN2A, EFEMP2, CLASP1, VIM, UGT1A1, SUFU, NEU1, BMP4, ERCC2, HIP1, CD40, CYP2A6, ABCC2, PHOX2A, IRS1, PTCH1, SMARCA2, TAF1, SETD5, TRIM28, PAX6, NKX2-5, IDH1, HSD11B1, CPOX, IL6, LRP1, COL6A1, TPM3, EPHX1, TARDBP, PGR, PTCH2, CTNNA3, MECOM, COPA, IKBKAP, GNB3, UCHL1, AGRN, PRX, CSRP3, HTT, AVPR2, COL4A2, TGFBR1, EP300, RAD51, THRB, CEBPA, MAX, ZBTB16, NLRP1, PCBD1, HCFC1, CYP24A1, ADCY5, PTPRC, LRP6, PITX2, BMPR2, PLIN1, PLK4, RET, GNA11, GJA1, WNT7A, AHSG, HNF4A, LDHA, ZIC2, ARX, MECP2, COL17A1, KPTN, TGFB3, ACAN, CASR, FOXF1, GCK, FOXP3, SIX1, IL1RN, LAMA4, CCND2, MMP2, ELANE, PRKDC, HACE1, WNT5A, MRPL3, TBX5, IGF1R, TRPC3, UQCRC2, ELN, GPD2, AXIN1, TUBA1A, CYP2C9, NUP93, CCL2, ITCH, SELE, TUBB3, MUSK, ITPR3, TFAP2A, TH, CHRM3, DDOST, LPAR6, DLX5, NR2F1, SELP, SCO2, LCK, CSF3R, CRBN, NR0B2, BIN1, COL25A1, BMPR1B, KRT17, NGF, PDHA1, ATM, BRF1, IRF3, NFKB1, CHKB, POLR3A, GATA5, G6PD, POMC, ATRX, MASP1, MSH2, FGFR2, AMH, PLCG2, DRD5, UBE3A, CDKN1B, RPL11, PDGFRA, L1CAM, OPA1, FBN1, FLNC, TBX6, MTRR, FGF20, DCC, FASLG, DNMT3B, GNRH1, NHP2, CFTR, MYH11, ATR, ANK2, PLCB4, KDR, HFE, PORCN, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
cAMP signaling pathwayYesN7.83175e-093.77339

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BASAL CELL NEVUS SYNDROME, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, OTOPALATODIGITAL SYNDROME, TYPE II, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, ATELOSTEOGENESIS, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, LONG QT SYNDROME 15, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, NIJMEGEN BREAKAGE SYNDROME, GROWTH HORMONE INSENSITIVITY, PARTIAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SYNDACTYLY, TYPE III, MELNICK-NEEDLES SYNDROME, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SPINOCEREBELLAR ATAXIA 14, RETINITIS PIGMENTOSA, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, [NOVELTY SEEKING PERSONALITY], ?LICHTENSTEIN-KNORR SYNDROME, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LEOPARD SYNDROME 3, FRONTOTEMPORAL DEMENTIA, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SUPRAVALVAR AORTIC STENOSIS, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PAPILLARY THYROID CARCINOMA, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, AURICULOCONDYLAR SYNDROME 3, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, HOLOPROSENCEPHALY-7, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, AORTIC VALVE DISEASE 2, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MYXOMA, INTRACARDIAC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, RUBINSTEIN-TAYBI SYNDROME, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, POLYDACTYLY, PREAXIAL, TYPE IV, LEBER CONGENITAL AMAUROSIS 1, CARDIOMYOPATHY, HYPERTROPHIC, 3, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ATRIOVENTRICULAR SEPTAL DEFECT 3, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, TIMOTHY SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, ACNE INVERSA, FAMILIAL, 3, SICK SINUS SYNDROME 2, ?FIBROMATOSIS, GINGIVAL, 1, CARDIOMYOPATHY, HYPERTROPHIC, 7, OCULODENTODIGITAL DYSPLASIA, ALAND ISLAND EYE DISEASE, RIPPLING MUSCLE DISEASE, BOOMERANG DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 18, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AORTIC ANEURYSM, FAMILIAL THORACIC 8, HEMOCHROMATOSIS, TYPE 2B, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CRANIOFRONTONASAL DYSPLASIA, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, PITUITARY DEPENDENT HYPERCORTISOLISM, OVARIAN HYPERSTIMULATION SYNDROME, PARKINSON DISEASE 1, RETINITIS PIGMENTOSA 45, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ACHROMATOPSIA-2, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ATRIOVENTRICULAR SEPTAL DEFECT 4, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, ANGELMAN SYNDROME, FAMILIAL COLORECTAL CANCER, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, ?SPINOCEREBELLAR ATAXIA 41, KERATOSIS, SEBORRHEIC, SOMATIC, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, PARKINSON DISEASE 4, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, WHIM SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ACROCAPITOFEMORAL DYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, BLEEDING DISORDER, PLATELET-TYPE, 11, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, PALLISTER-HALL SYNDROME, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, VENTRICULAR SEPTAL DEFECT 1, MYOPATHY, TUBULAR AGGREGATE, 2, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, BRACHYDACTYLY, TYPE A1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {BLEPHAROSPASM, PRIMARY BENIGN}, IMMUNODEFICIENCY 36, LI-FRAUMENI SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HYPOMAGNESEMIA 2, RENAL, CONE-ROD DYSTROPHY, X-LINKED, 3, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, BURKITT LYMPHOMA, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2, HETEROTOPIA, PERIVENTRICULAR, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, BLEEDING DISORDER, PLATELET-TYPE, 15, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, RETINITIS PIGMENTOSA-40, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, DYSTONIA-12, CARDIAC VALVULAR DYSPLASIA, X-LINKED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, RUBINSTEIN-TAYBI SYNDROME 2, OTOPALATODIGITAL SYNDROME, TYPE I, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SPINOCEREBELLAR ATAXIA 1, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPERTENSION AND BRACHYDACTYLY SYNDROME, GLIOMA SUSCEPTIBILITY 1, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, ALAGILLE SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, LIANG DISTAL MYOPATHY, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, SMALL CELL CANCER OF THE LUNG, SOMATIC, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, ATRIAL SEPTAL DEFECT 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DYSTONIA 25, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPOKALEMIC PERIODIC PARALYSIS 1, HYPERPARATHYROIDISM, NEONATAL, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, LARSEN SYNDROME, CALCIUM OXALATE UROLITHIASIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, {LEPROSY, SUSCEPTIBILITY TO}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, DARIER DISEASE, NOONAN SYNDROME 9, HEMOCHROMATOSIS TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, AURICULOCONDYLAR SYNDROME 1, HYPERTHYROIDISM, NONAUTOIMMUNE, ACROKERATOSIS VERRUCIFORMIS, ATRIAL STANDSTILL 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ENCEPHALOPATHY, NEONATAL SEVERE, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SPINOCEREBELLAR ATAXIA 17, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, MYOTUBULAR MYOPATHY, X-LINKED, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, PSEUDOHYPOPARATHYROIDISM IA, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HOLOPROSENCEPHALY-3, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, HYPERPROINSULINEMIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, METACHONDROMATOSIS, 46,XX SEX REVERSAL, TYPE 2, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, BRACHYDACTYLY, TYPE E2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, LEPRECHAUNISM, CONE-ROD DYSTROPHY 6, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARNEY COMPLEX, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?CARDIOMYOPATHY, DILATED, 2A, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, BRACHYDACTYLY, TYPE A2, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, NOONAN SYNDROME 7, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OVARIAN DYSGENESIS 1, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PICK DISEASE, NEPHROTIC SYNDROME, TYPE 3, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, OVARIAN RESPONSE TO FSH STIMULATION, ESSENTIAL HYPERTENSION, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, ACHROMATOPSIA-3, ATAXIA-OCULOMOTOR APRAXIA 3, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ATRIAL FIBRILLATION, FAMILIAL, 6, ADRENAL CORTICAL CARCINOMA, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, BRODY MYOPATHY, IMMUNODEFICIENCY, COMMON VARIABLE, 12, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, CARDIOMYOPATHY, DILATED, 1U, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PEROXISOME BIOGENESIS DISORDER 2B, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, IMMUNODEFICIENCY 9, ATELOSTEOGENESIS, TYPE III, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

192

CALM1, PDE4D, F2, NFKB1, DRD4, FSHB, ATP2B3, ACOX1, KITLG, TPM1, GNAS, MAPK8IP1, PSEN1, AGT, HAX1, GNAI3, ATP1A2, CDK5, PPP1R3A, PRKAR1A, SNCA, CDH1, RYR2, HCFC1, MYH7, PIK3CD, LIPE, IL1B, RAB7A, EPS8, SPTAN1, ADRB2, DNM2, NFKBIA, PIK3CA, NBN, JAG1, ADCY6, GHSR, GNAI2, PEX5, PCNA, SOX9, EDNRA, GRIP1, ACVR1, DRD2, ERBB3, FSHR, MAP2K2, CNGB3, PIK3R5, NME1, ATP1B1, NOS3, ATP2A1, CABP4, GNB3, TNF, CACNA1D, ADCY1, CALCR, EDA, LEP, ACTN1, AKT2, DRD5, CACNA1F, RASSF1, ORAI1, PRKACG, CCND1, PTH, PAX7, PDE3A, GP6, ITPR1, PRKG1, GLI3, SYN1, TSHR, RYR1, RB1, CREBBP, ADRB3, FXYD2, ADCY5, PDE6B, INS, SOS2, PLIN1, PTCH1, CAV3, EDN1, MEN1, ADCY10, PTGER2, PPARG, GJA1, AMHR2, GABBR2, EP300, IGF1, MECP2, MC2R, FLNA, CASR, EIF2B1, PPP2R1A, GRIN2B, BMP2, CD44, FOXP3, GHRL, MTOR, PTHLH, AKT1, TUBB3, KCNMA1, CFTR, ATXN1, TRPC3, TP53, CNGA3, IRS2, ATP1A3, NCF2, SLC9A3R1, IHH, CNGB1, CCL2, CSNK1D, ATP2B2, PRKCG, MYC, EFNB1, RAF1, NPPA, HAMP, ADA, PLN, GABRG2, GNRH1, TLR2, GRIN2A, GUCY2D, TNFSF11, SLC9A1, PRKCD, EPHB2, HTR1A, KNG1, NGF, PIK3R2, TGFB1, PLCE1, PTPN11, AMH, GNAL, RRAS2, HNF1B, DISC1, STAT3, PRKACA, CACNA1C, INSR, POMC, AKT3, SOS1, CXCR4, ACTN4, BRAF, IL6, GATA4, CACNA1S, BDNF, APP, TBP, GRM1, HRAS, EGFR, ACTN2, SMAD6, SMAD3, ATP2A2, ESR1, TNNI3, CNGA1, PIK3R1, FLNB, HCN4, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Carbohydrate metabolismYesN6.87096e-053.34359

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, LONG QT SYNDROME 15, IMMUNODEFICIENCY 38, CARDIOMYOPATHY, HYPERTROPHIC, 2, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADAMS-OLIVER SYNDROME 5, [FRUCTOSURIA], ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, [BILIRUBIN, SERUM LEVEL OF, QTL1], HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, EHLERS-DANLOS SYNDROME, TYPE 3, ?OPTIC ATROPHY 9, NAXOS DISEASE, FAMILIAL COLORECTAL CANCER, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, VENTRICULAR SEPTAL DEFECT 1, EPILEPSY, PYRIDOXINE-DEPENDENT, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, PARAGANGLIOMAS 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, KLEEFSTRA SYNDROME, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, CREATINE PHOSPHOKINASE, ELEVATED SERUM, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ARTS SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, GLYCOGEN STORAGE DISEASE IA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RETINITIS PIGMENTOSA 13, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, MUCOPOLYSACCHARIDOSIS VII, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MUENKE SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, DEAFNESS, AUTOSOMAL DOMINANT 17, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, [GILBERT SYNDROME], GLAUCOMA 1A, PRIMARY OPEN ANGLE, MALONYL-COA DECARBOXYLASE DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, GABA-TRANSAMINASE DEFICIENCY, CRANIOSYNOSTOSIS, TYPE 2, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, COENZYME Q10 DEFICIENCY, PRIMARY, 3, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GLANZMANN THROMBASTHENIA, ?CARDIOMYOPATHY, DILATED, 2A, AGAMMAGLOBULINEMIA 3, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, 2-METHYLBUTYRYLGLYCINURIA, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, COLE DISEASE, LEOPARD SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, GLUTAMINE DEFICIENCY, CONGENITAL, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, BARTH SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PARAGANGLIOMAS 5, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, HYPEROXALURIA, PRIMARY, TYPE 1, MYOPIA 23, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ?SPINOCEREBELLAR ATAXIA 26, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOPHOSPHATASIA, INFANTILE, CARCINOID TUMORS, INTESTINAL, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, ATAXIA-TELANGIECTASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, CARDIOMYOPATHY, HYPERTROPHIC, 12, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, GALACTOKINASE DEFICIENCY WITH CATARACTS, LONG QT SYNDROME 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, ALPHA-METHYLACETOACETIC ACIDURIA, CORTISONE REDUCTASE DEFICIENCY 1, SADDAN, OPSISMODYSPLASIA, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, PAROXYSMAL NONKINESIGENIC DYSKINESIA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, HYPEROXALURIA, PRIMARY, TYPE II, LACTASE DEFICIENCY, CONGENITAL, MODY, TYPE II, CRIGLER-NAJJAR SYNDROME, TYPE I, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, FRUCTOSE INTOLERANCE, NEPHROTIC SYNDROME, TYPE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 23, MICROPHTHALMIA, ISOLATED 8, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, GLYCOGEN STORAGE DISEASE VII, PULMONARY HYPERTENSION, PRIMARY, 3, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CORNEAL FLECK DYSTROPHY, POLYGLUCOSAN BODY DISEASE, ADULT FORM, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HYPERPROINSULINEMIA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, PYRUVATE CARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPOBETALIPOPROTEINEMIA, MACROCEPHALY/AUTISM SYNDROME, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, GLYCOGEN STORAGE DISEASE 0, MUSCLE, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PARIETAL FORAMINA 1, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SJOGREN-LARSSON SYNDROME, GLYCOGEN STORAGE DISEASE IV, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?ACAT2 DEFICIENCY, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, FAVISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, FECHTNER SYNDROME, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, METHYLMALONYL-COA EPIMERASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, HMG-COA LYASE DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, GLYCOGEN STORAGE DISEASE VI, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, LEPRECHAUNISM, PEROXISOME BIOGENESIS DISORDER 2B, ESSENTIAL HYPERTENSION, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FILS SYNDROME, AURICULOCONDYLAR SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, OSSEOUS HETEROPLASIA, PROGRESSIVE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), OSTEOGENESIS IMPERFECTA, TYPE IX, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLYCOGEN STORAGE DISEASE 0, LIVER, ALCOHOL DEPENDENCE, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MARINESCO-SJOGREN SYNDROME, MAY-HEGGLIN ANOMALY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, GALACTOSE EPIMERASE DEFICIENCY, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, D-GLYCERIC ACIDURIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DILATED CARDIOMYOPATHY 1DD, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, MCARDLE DISEASE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, DEAFNESS, X-LINKED 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, LADD SYNDROME, NEPHROTIC SYNDROME, TYPE 3, PARAGANGLIOMAS 4, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE II, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO G6PD DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, GLUCOCORTICOID RESISTANCE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, TRANSALDOLASE DEFICIENCY, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SUPRAVALVAR AORTIC STENOSIS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, GLYCOGEN STORAGE DISEASE XII, {GLIOMA SUSCEPTIBILITY 9}, PSEUDOHYPOPARATHYROIDISM IA, [PENTOSURIA], MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, HUNTINGTON DISEASE, MODY, TYPE I, GLIOMA SUSCEPTIBILITY 1, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, [GLYOXALASE II DEFICIENCY], GM1-GANGLIOSIDOSIS, TYPE II, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PYRUVATE KINASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, CATSHL SYNDROME, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, ATRIOVENTRICULAR SEPTAL DEFECT 4, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, KERATOSIS, SEBORRHEIC, SOMATIC, NEPHROTIC SYNDROME, TYPE 8, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, FUMARASE DEFICIENCY, LOWE SYNDROME, MENTAL RETARDATION, X-LINKED 41, GM1-GANGLIOSIDOSIS, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE II, GLYCINE ENCEPHALOPATHY, GLYCOGEN STORAGE DISEASE II, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, QUESTION MARK EARS, ISOLATED, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, AURICULOCONDYLAR SYNDROME 1, L-2-HYDROXYGLUTARIC ACIDURIA, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), CALCIUM OXALATE UROLITHIASIS, DEAFNESS, AUTOSOMAL RECESSIVE 24, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, GALACTOSEMIA, PARKINSON DISEASE 20, EARLY-ONSET, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, [CHITOTRIOSIDASE DEFICIENCY], PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE X, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, PEPCK DEFICIENCY, MITOCHONDRIAL, HYPOPHOSPHATASIA, CHILDHOOD, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, GM1-GANGLIOSIDOSIS, TYPE III, SIALURIA, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, ?GLYCOGEN STORAGE DISEASE XIII, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, SMITH-KINGSMORE SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 7, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DENT DISEASE 2, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, NONAKA MYOPATHY

225

CALM1, GNE, MPDZ, ARL6IP1, CAV1, TNNI3, APOB, PRPF8, GDI1, MYC, SDHD, POT1, ACADS, GAA, PGAM2, PGK1, G6PC, PKLR, PLCD1, ATP6V1B1, H6PD, GLB1, GUSB, HAGH, AGT, PCCB, PPARG, INSR, SDHA, HIBCH, GALT, EDN1, BTK, KMT2A, G6PC3, MYH7, GALE, GALK1, OCRL, HADH, RAB7A, SDHC, SPTAN1, MLYCD, PIK3CA, POLE, UGT1A4, PIP5K1C, ACADSB, DLD, HADHA, CYB5R3, IGF1, ARHGDIA, UMPS, IL13, PRKACG, CTNNB1, PEX5, HMGCS2, PCNA, INPPL1, LDHA, FGFR3, KL, ALDOB, DLC1, ISG15, MPI, ACTN4, PGM1, CD79A, VWF, IDH1, ALDH7A1, SHMT1, BAX, CAD, MTOR, GPI, ALDH6A1, HEXA, LEP, HEXB, PIK3CD, AGXT, ALDH2, GFPT1, EHHADH, MSX2, DHFR, ITPA, GNAI2, NR1I3, TALDO1, GYS1, JUP, GMPPA, PIKFYVE, GNAS, IMPAD1, SUCLA2, PFKM, ADH1B, MCEE, RPIA, TNFRSF1A, HTT, L2HGDH, ALPL, EEF2, GAD1, ALDH5A1, CHIT1, UGT1A1, AP1S2, ENPP1, BPGM, NOTCH1, INS, CTSD, TUBA8, CAV3, PLCE1, PAXIP1, AGL, ACAT1, UBE2A, PRPS1, SMAD4, ATP5A1, HNF4A, ENO3, INPP5E, CSRP3, GMPPB, TAZ, MYOC, GCK, PYGM, ALDH3A2, RDX, HMGCL, GLUL, ITGB2, HAO1, AKT1, GBE1, TPI1, PPIB, MRPL3, VCP, MUT, TANGO2, NPHS1, IRS2, PGM3, ALDH1A3, LRPAP1, NCF1, DBT, PCK2, IL1B, TRPM7, SI, OGDH, HK1, ACADM, PTEN, ECHS1, TNNT2, ADH1C, GLYCTK, MTM1, LCK, PDSS2, ACACA, PMM2, NR3C1, GRHPR, PNKD, ACAT2, PYGL, SYNJ1, ATM, GATA4, MYH9, PDHA1, HADHB, PLCB1, GATA5, G6PD, PTPN11, PCCA, ETFA, GYS2, ALDOA, PLCG2, REN, DCXR, SUCLG1, GLA, IDH2, B4GALT1, LCT, FH, DLAT, SERPINE1, HRAS, KHK, ACO2, ACTN2, GCSH, CYC1, FBP1, ALB, CFL2, TNF, SDHB, ITGB3, SIL1, PC, PCK1, ABAT, PLCB4

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
LysosomeYesN9.48433e-074.59179

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, MANNOSIDOSIS, ALPHA-, TYPES I AND II, PAPILLON-LEFEVRE SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, CEROID LIPOFUSCINOSIS, NEURONAL, 7, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, MICROPHTHALMIA, SYNDROMIC 6, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], LONG QT SYNDROME 15, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CEROID LIPOFUSCINOSIS, NEURONAL, 1, MULTIPLE SULFATASE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, MUCOLIPIDOSIS III GAMMA, CEROID LIPOFUSCINOSIS NEURONAL 6, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, EPILEPSY, PROGRESSIVE MYOCLONIC 1A (UNVERRICHT AND LUNDBORG), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ?RETINAL ARTERIES, TORTUOSITY OF, MUCOPOLYSACCHARIDOSIS IS, DANON DISEASE, FARBER LIPOGRANULOMATOSIS, PERIODONTITIS 1, JUVENILE, PORENCEPHALY 1, CEROID LIPOFUSCINOSIS, NEURONAL, 2, MUCOLIPIDOSIS II ALPHA/BETA, PYCNODYSOSTOSIS, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), SALLA DISEASE, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, FUCOSIDOSIS, PEELING SKIN SYNDROME 4, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, RETINITIS PIGMENTOSA 73, GAUCHER DISEASE, TYPE IIIC, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, HAIM-MUNK SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, SPINOCEREBELLAR ATAXIA 21, GLIOMA SUSCEPTIBILITY 1, MANNOSIDOSIS, BETA, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, STUTTERING, FAMILIAL PERSISTENT, 1, NIEMANN-PICK DISEASE TYPE C1, HYPERPROINSULINEMIA, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), FEINGOLD SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, ALZHEIMER DISEASE-2, ATRANSFERRINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, BRUCK SYNDROME 2, CEROID LIPOFUSCINOSIS, NEURONAL, 5, WRINKLY SKIN SYNDROME, MUCOPOLYSACCHARIDOSIS II, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, CYSTINOSIS, OCULAR NONNEPHROPATHIC, TUBEROUS SCLEROSIS 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, COMBINED SAP DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, MUCOLIPIDOSIS III ALPHA/BETA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MUCOLIPIDOSIS IV, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, GAUCHER DISEASE, TYPE I, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, WAARDENBURG SYNDROME, TYPE 2A, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, BURKITT LYMPHOMA, NIEMANN-PICK DISEASE, TYPE A, GM1-GANGLIOSIDOSIS, TYPE I, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, CORNELIA DE LANGE SYNDROME 4, GLYCOGEN STORAGE DISEASE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, NIEMANN-PICK DISEASE, TYPE C2, GM2-GANGLIOSIDOSIS, AB VARIANT, WHIM SYNDROME, COMBINED FACTOR V AND VIII DEFICIENCY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, {PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO}, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, BRACHYDACTYLY, TYPE A2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, MUCOPOLYSACCHARIDOSIS IH/S, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, OROFACIAL CLEFT 11, METACHROMATIC LEUKODYSTROPHY, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, GLYCOGEN STORAGE DISEASE VII, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, KRABBE DISEASE, ATYPICAL, KRABBE DISEASE, GALACTOSIALIDOSIS, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, LOEYS-DIETZ SYNDROME 1, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ASPARTYLGLUCOSAMINURIA, SIALIC ACID STORAGE DISORDER, INFANTILE, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, KANZAKI DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V, DYSTONIA-PARKINSONISM, X-LINKED, {PARKINSON DISEASE 17}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, GM1-GANGLIOSIDOSIS, TYPE III, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, TIETZ ALBINISM-DEAFNESS SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, IMMUNODEFICIENCY 46, SEA-BLUE HISTIOCYTE DISEASE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, GAUCHER DISEASE, TYPE II, CEROID LIPOFUSCINOSIS, NEURONAL, 10, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], MUCOPOLYSACCHARIDOSIS IVA, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, PROTEUS SYNDROME, SOMATIC

116

CALM1, APOE, FUCA1, GNPTAB, TPP1, ASAH1, CLN3, MYC, RAD21, ACP2, IGF2R, CTSA, ACP5, GUSB, AP4B1, HAX1, PPARG, HEXA, VMA21, GALNS, SLC11A2, GALC, IDUA, MANBA, SLC17A5, MAN2B1, TFRC, TGFBR1, MMP1, NEU1, NPC1, BMP4, MITF, ATP6V0A2, CSTA, MCOLN1, MMP2, NME1, IGF2, IDS, HYAL1, MYCN, CTSC, SORT1, CIITA, CSTB, GPI, SCARB2, HEXB, CTSF, CALR, GAA, IFNG, AP1S2, TCIRG1, TAF1, AP1S1, AP4E1, SPRY2, SUMF1, LMAN1, CLN5, ACVR1, INS, EEF1A2, GLB1, GNPTG, SMPD1, IGF1, CTSK, GNS, CTNS, CTSD, COL4A1, BMP2, AKT1, AP1S3, PSAP, MRPL3, NAGLU, LIPA, ATP5A1, SGSH, ARSB, LAMP2, NPC2, HGSNAT, SCYL1, PFKM, NGF, AP4S1, NTRK1, AP4M1, ATM, DVL1, AP3B1, PICALM, CXCR4, PACS1, GM2A, PPT1, GBA, GLA, PLOD2, UCHL1, AGA, VPS35, EGFR, NAGA, DNAJC3, TF, SELP, KDR, TUFM, MFSD8, ARSA

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
PhagosomeYesN1.62553e-054.08210

BARAITSER-WINTER SYNDROME 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CAMURATI-ENGELMANN DISEASE, SPINOCEREBELLAR ATAXIA 5, PSEUDOACHONDROPLASIA, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, IMMUNODEFICIENCY 15, BONE MARROW FAILURE SYNDROME 1, SELECTIVE T-CELL DEFECT, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {LEPROSY, SUSCEPTIBILITY TO}, 46,XX SEX REVERSAL, TYPE 2, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ZIMMERMANN-LABAND SYNDROME 2, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, RETINITIS PIGMENTOSA, ZIMMERMANN-LABAND SYNDROME 1, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, DANON DISEASE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, DEAFNESS, AUTOSOMAL RECESSIVE 24, SUPRAVALVAR AORTIC STENOSIS, AGAMMAGLOBULINEMIA, X-LINKED 1, CORNEAL DYSTROPHY, CONGENITAL STROMAL, 3MC SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, NEUTROPENIA, CYCLIC, IMMUNODEFICIENCY 43, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, ADULT SYNDROME, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, WRINKLY SKIN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, HYPERPROINSULINEMIA, PERRY SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ATRANSFERRINEMIA, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, OOCYTE MATURATION DEFECT 2, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, LIMB-MAMMARY SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, BURKITT LYMPHOMA, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, MYELOPEROXIDASE DEFICIENCY, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EPIDERMAL NEVUS, GALACTOSIALIDOSIS, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, LISSENCEPHALY 3, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, CORNEAL FLECK DYSTROPHY, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, OSTEOGENESIS IMPERFECTA, TYPE II, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, ?DYSTONIA, JUVENILE-ONSET, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, ALAGILLE SYNDROME, PLATELET GLYCOPROTEIN IV DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKODYSTROPHY, HYPOMYELINATING, 6, BRACHYDACTYLY, TYPE A2, LYMPHOPROLIFERATIVE SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ADRENAL CORTICAL CARCINOMA, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, GLYCOGEN STORAGE DISEASE VII, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, CARDIOMYOPATHY, HYPERTROPHIC, 7, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, C1R/C1S DEFICIENCY, COMBINED, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, INFANTILE MYOFIBROMATOSIS 1, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, DEAFNESS, AUTOSOMAL DOMINANT 20/26, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, C1Q DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, KOSAKI OVERGROWTH SYNDROME, IMMUNODEFICIENCY 8, 46XY SEX REVERSAL 6, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, PEROXISOME BIOGENESIS DISORDER 2B, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, CAFFEY DISEASE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, HAY-WELLS SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, C3 DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GLANZMANN THROMBASTHENIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, ?CARDIOMYOPATHY, DILATED, 2A, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, 3MC SYNDROME 1, ESTROGEN RESISTANCE, HYPOBETALIPOPROTEINEMIA, CEROID LIPOFUSCINOSIS, NEURONAL, 10, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, METACHONDROMATOSIS, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, XERODERMA PIGMENTOSUM, GROUP B, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, IMMUNODEFICIENCY 46, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, LEOPARD SYNDROME 1, IMMUNODEFICIENCY 20, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, ?GLYCOPROTEIN IA DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC

132

CALM1, SFTPA2, APOB, MYC, TUBA4A, ACTB, MYD88, CTSA, RPL5, TUBB1, CYBA, ATP6V1B2, CD82, CDH1, BTK, B2M, IL10, RAB7A, COL1A1, MPO, NCF4, TFRC, JAG1, PDGFRB, GNAI2, ATP6V0A2, ERBB2, SOX9, CBL, PLAU, EGFR, HBA1, ERCC3, TNF, SRP72, IL21, HLA-DRB1, TNNI3, ITGA2, COMP, CALR, TUBB2B, HLA-DQA1, IFNG, TAP1, CLEC7A, PIKFYVE, FCGR3A, NCF2, C3, HSPD1, DYNC2H1, TMEM173, SPRY2, TSHR, ITK, TP63, INS, TUBA8, FCGR2A, NCF1, TCIRG1, ITGB3, AGL, RPS14, SFTPA1, CBS, SPTBN2, C1R, STAT1, SYN1, CTSD, BMP2, TUBB, RDX, ITGB2, C1QA, TUBB3, ELANE, CFTR, TP53, HLA-C, IKBKB, DCTN1, TUBA1A, HLA-G, AKT1, PEX5, LAMP2, POMC, TUBB2A, TUBB4A, DYNC1H1, TLR2, USH2A, PFKM, ATP6V1B1, CYBB, MASP1, CHEK2, TLR4, TRAC, ACTG1, TGFB1, PTPN11, THBS4, SPG7, MSR1, MAP3K1, CD44, HLA-B, FCGR2B, KDR, IL6, DCN, COLEC11, STX11, MBL2, UCHL1, CD36, HRAS, HLA-DQB1, SCGB3A2, TF, SELP, ZAP70, TUBB8, ALB, ESR1, TAP2, CORO1A, PDGFB

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
AsthmaNoN0.0310956.6821

{ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, METACHONDROMATOSIS, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, RHEUMATOID ARTHRITIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, [EOSINOPHIL PEROXIDASE DEFICIENCY], {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2

18

HLA-DQB1, CD40LG, RASA1, HLA-DQA1, IGF1R, IL10, IFNG, MS4A2, CCL11, HLA-DRB1, EPX, IRS2, IL13, PTPN11, CCL2, TNF, CD40, TRAC

1, 11, 12, 13, 14, 15, 17, 20, 5, 6, X0
Hypertrophic cardiomyopathy (HCM)YesN6.04898e-135.32210

CORNEAL DYSTROPHY, LATTICE TYPE I, WOLFF-PARKINSON-WHITE SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, EPISODIC ATAXIA, TYPE 5, CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, AORTIC ANEURYSM, FAMILIAL THORACIC 4, CZECH DYSPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, CORNEAL DYSTROPHY, AVELLINO TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CONE-ROD DYSTROPHY, X-LINKED, 3, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, MELNICK-NEEDLES SYNDROME, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, BARAITSER-WINTER SYNDROME 2, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, HUTCHINSON-GILFORD PROGERIA, LISSENCEPHALY 5, DEJERINE-SOTTAS DISEASE, ?DYSTONIA 23, CONGENITAL DIAPHRAGMATIC HERNIA, FRONTOMETAPHYSEAL DYSPLASIA, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MANDIBULOACRAL DYSPLASIA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CARDIOMYOPATHY, HYPERTROPHIC, 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, OTOPALATODIGITAL SYNDROME, TYPE II, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, OSTEOGENESIS IMPERFECTA, TYPE IV, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, CARDIOMYOPATHY, DILATED, 3B, ALAND ISLAND EYE DISEASE, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ESSENTIAL HYPERTENSION, ?GLYCOPROTEIN IA DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, PEUTZ-JEGHERS SYNDROME, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, CATARACT 16, MULTIPLE TYPES, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, BLEEDING DISORDER, PLATELET-TYPE, 15, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, LONG QT SYNDROME 14, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CARDIOMYOPATHY, HYPERTROPHIC, 4, MYOPATHY, MYOFIBRILLAR, 1, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, MALFORMATION OF THE HEART, MALOUF SYNDROME, STICKLER SYNDROME, TYPE I, LONG QT SYNDROME 15, MYOPATHY, DISTAL, TATEYAMA TYPE, MYOPATHY, MYOFIBRILLAR, 5, OSTEOGENESIS IMPERFECTA, TYPE I, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 56, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, ATRIAL SEPTAL DEFECT 5, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MUSCULAR DYSTROPHY, CONGENITAL, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC 6, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?DYSTONIA, JUVENILE-ONSET, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, LIANG DISTAL MYOPATHY, CARDIOMYOPATHY, HYPERTROPHIC, 11, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 2, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, DARIER DISEASE, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, SED CONGENITA, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, PLASMA FIBRONECTIN DEFICIENCY, BARAITSER-WINTER SYNDROME 1, GLAUCOMA 1A, PRIMARY OPEN ANGLE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, CARDIOMYOPATHY, DILATED, 1A, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, DEAFNESS, AUTOSOMAL DOMINANT 20/26, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, CORNEAL DYSTROPHY, GROENOUW TYPE I, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DILATED CARDIOMYOPATHY 1DD, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, MYOPATHY, MYOFIBRILLAR, 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, ?CARDIOMYOPATHY, DILATED, 2A, RENAL ADYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, AVASCULAR NECROSIS OF THE FEMORAL HEAD, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, HEART-HAND SYNDROME, SLOVENIAN TYPE, AMELOGENESIS IMPERFECTA, TYPE IH, RUBINSTEIN-TAYBI SYNDROME 2, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, LEGG-CALVE-PERTHES DISEASE, FACTOR XIIIA DEFICIENCY, RETINAL CONE DYSTROPHY 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, CARDIOMYOPATHY, DILATED, 1II, HETEROTOPIA, PERIVENTRICULAR, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LOEYS-DIETZ SYNDROME 4, CARDIOMYOPATHY, HYPERTROPHIC, 7, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ACROKERATOSIS VERRUCIFORMIS, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC

88

CALM1, LMNA, CACNA2D4, TPM1, IGBP1, COL1A2, ITGB6, LAMB1, ITGA2B, MYOC, RYR2, MYH7, STK11, EGR2, ITGA3, SGCB, DES, CACNA1B, TGFBI, MYL3, CACNB4, EMD, IRS1, ACTC1, CAPN3, PRKAG2, COL2A1, ACE, ACTB, TGFB2, SGCD, IGF2, NOS3, ATP2A1, DAG1, TNF, CACNA1D, TNNI3, ACTN1, ITGA2, CACNA1F, TPM2, CACNB2, CD44, ITPR1, TNNT2, TNC, CAV3, TGFBR1, ITGB3, ITGA8, EP300, IGF1, SGCA, MYBPC3, MYLK, TGFB3, DMD, ITGB2, FN1, TP53, ACTN2, AKT1, TTN, F13A1, ITGA6, MYH6, FLNA, BIN1, ACTG1, KCNJ10, TGFB1, LAMA2, ITGB4, CACNA1C, DST, IL6, SGCG, CRYAB, CACNA1S, FLNC, ACTG2, EPS8, ITGA7, MYH11, ATP2A2, SERPINE1, TPM3

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 21, 22, 3, 4, 5, 6, 7, 9, X0
Arrhythmogenic right ventricular cardiomyopathy (ARVC)YesN2.83434e-105.64145

BARAITSER-WINTER SYNDROME 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, EPISODIC ATAXIA, TYPE 5, MACULAR DYSTROPHY, PATTERNED, 2, OTOPALATODIGITAL SYNDROME, TYPE II, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, KERATITIS, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, LONG QT SYNDROME 15, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CONE-ROD DYSTROPHY, X-LINKED, 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SYNDACTYLY, TYPE III, MELNICK-NEEDLES SYNDROME, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, BARAITSER-WINTER SYNDROME 2, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, DYSTONIA-11, MYOCLONIC, GILLESPIE SYNDROME, HUTCHINSON-GILFORD PROGERIA, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LISSENCEPHALY 5, FRONTOTEMPORAL DEMENTIA, CONGENITAL DIAPHRAGMATIC HERNIA, ESTROGEN RESISTANCE, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 10, ALZHEIMER DISEASE, TYPE 4, ACNE INVERSA, FAMILIAL, 3, MANDIBULOACRAL DYSPLASIA, 46,XX SEX REVERSAL, TYPE 2, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ATRIOVENTRICULAR SEPTAL DEFECT 3, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, ALAND ISLAND EYE DISEASE, RIPPLING MUSCLE DISEASE, SPINOCEREBELLAR ATAXIA 15, ?GLYCOPROTEIN IA DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, FOVEAL HYPOPLASIA 1, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, NAXOS DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, LOEYS-DIETZ SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MYOPATHY, MYOFIBRILLAR, 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALOUF SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, MYOPATHY, DISTAL, TATEYAMA TYPE, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MUSCULAR DYSTROPHY, CONGENITAL, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, OTOPALATODIGITAL SYNDROME, TYPE I, DUCHENNE MUSCULAR DYSTROPHY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?DYSTONIA, JUVENILE-ONSET, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 9, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, OPTIC NERVE HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, HYPOKALEMIC PERIODIC PARALYSIS 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, DARIER DISEASE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, COLOBOMA, OCULAR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, CARDIOMYOPATHY, DILATED, 1A, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?DYSTONIA 23, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, DEAFNESS, AUTOSOMAL DOMINANT 20/26, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, HYPOPLASTIC LEFT HEART SYNDROME 1, SESAME SYNDROME, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, HETEROTOPIA, PERIVENTRICULAR, GLANZMANN THROMBASTHENIA, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, RENAL ADYSPLASIA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, HEART-HAND SYNDROME, SLOVENIAN TYPE, AMELOGENESIS IMPERFECTA, TYPE IH, PICK DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, RETINAL CONE DYSTROPHY 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ACROKERATOSIS VERRUCIFORMIS, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC

68

CALM1, SOX9, CTNNA3, LAMB1, SMAD3, ITGA8, IGF2, EP300, CAV3, SGCD, ITPR1, ACTG1, ACTB, DSG2, SGCA, ITGB4, LAMA2, PSEN1, ITGB6, DSC2, ITGA2B, CACNA2D4, DAG1, DMD, KCNJ10, CACNA1C, IGBP1, CACNA1B, ACTN1, ITGA2, AKT1, CTNNB1, RYR2, GJA1, DSP, ACTN4, LMNA, PKP2, SGCG, ITGA3, ATP2A1, CACNB2, CACNA1S, CTNNA1, SGCB, GRIN2B, DES, ACTN2, SGCE, FN1, CACNA1F, EPS8, ITGA7, PTPN1, CACNB4, EMD, FLNA, TJP2, PCBD1, ATP2A2, ESR1, ITGB3, PAX6, ITGA6, JUP, BIN1, CACNA1D, TCF7L2

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 22, 3, 4, 5, 6, 7, 9, X0
Dilated cardiomyopathyYesN1.63644e-155.17215

CORNEAL DYSTROPHY, LATTICE TYPE I, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, EPISODIC ATAXIA, TYPE 5, CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, AORTIC ANEURYSM, FAMILIAL THORACIC 4, CZECH DYSPLASIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, OSTEOGENESIS IMPERFECTA, TYPE I, CORNEAL DYSTROPHY, AVELLINO TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MELNICK-NEEDLES SYNDROME, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, BARAITSER-WINTER SYNDROME 2, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, GLANZMANN THROMBASTHENIA, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, HUTCHINSON-GILFORD PROGERIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, DEJERINE-SOTTAS DISEASE, ?DYSTONIA 23, CONGENITAL DIAPHRAGMATIC HERNIA, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, PSEUDOHYPOPARATHYROIDISM IA, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CARDIOMYOPATHY, HYPERTROPHIC, 3, ATRIAL SEPTAL DEFECT 5, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, AORTIC ANEURYSM, FAMILIAL THORACIC 8, OTOPALATODIGITAL SYNDROME, TYPE II, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OSTEOGENESIS IMPERFECTA, TYPE IV, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CARDIOMYOPATHY, DILATED, 3B, ALAND ISLAND EYE DISEASE, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 18, ?GLYCOPROTEIN IA DEFICIENCY, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, CARDIOMYOPATHY, HYPERTROPHIC, 11, PITUITARY DEPENDENT HYPERCORTISOLISM, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ESSENTIAL HYPERTENSION, BLEEDING DISORDER, PLATELET-TYPE, 15, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, LONG QT SYNDROME 14, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CARDIOMYOPATHY, HYPERTROPHIC, 4, MYOPATHY, MYOFIBRILLAR, 1, BURKITT LYMPHOMA, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, MALFORMATION OF THE HEART, MALOUF SYNDROME, STICKLER SYNDROME, TYPE I, LONG QT SYNDROME 15, MYOPATHY, DISTAL, TATEYAMA TYPE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, BARAITSER-WINTER SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, CONE-ROD DYSTROPHY, X-LINKED, 3, NON-IMMUNE HYDROPS FETALIS, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 56, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MUSCULAR DYSTROPHY, CONGENITAL, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?DYSTONIA, JUVENILE-ONSET, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, VISCERAL MYOPATHY, SED CONGENITA, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, HYPERTROPHIC, 2, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, DARIER DISEASE, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, LIANG DISTAL MYOPATHY, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, PLASMA FIBRONECTIN DEFICIENCY, GLAUCOMA 1A, PRIMARY OPEN ANGLE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, DEAFNESS, AUTOSOMAL DOMINANT 20/26, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, CORNEAL DYSTROPHY, GROENOUW TYPE I, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DILATED CARDIOMYOPATHY 1DD, SESAME SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, DIABETES INSIPIDUS, NEPHROGENIC, METACHONDROMATOSIS, SMED STRUDWICK TYPE, ?FIBROMATOSIS, GINGIVAL, 1, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, HETEROTOPIA, PERIVENTRICULAR, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?CARDIOMYOPATHY, DILATED, 2A, RENAL ADYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, AVASCULAR NECROSIS OF THE FEMORAL HEAD, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, AORTIC ANEURYSM, FAMILIAL THORACIC 7, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, HEART-HAND SYNDROME, SLOVENIAN TYPE, AMELOGENESIS IMPERFECTA, TYPE IH, RUBINSTEIN-TAYBI SYNDROME 2, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, LEGG-CALVE-PERTHES DISEASE, FACTOR XIIIA DEFICIENCY, RETINAL CONE DYSTROPHY 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, BRODY MYOPATHY, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LOEYS-DIETZ SYNDROME 4, CARDIOMYOPATHY, HYPERTROPHIC, 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ACROKERATOSIS VERRUCIFORMIS, LEOPARD SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC

98

CALM1, PDE4D, CACNA2D4, TNNI3, LMNA, MYC, TPM1, IGBP1, COL1A2, ITGB6, LAMB1, PTHLH, ITGA2B, MYOC, RYR2, MYH7, EGR2, ITGA3, SGCB, ADRB2, DES, CACNA1B, TGFBI, MYL3, CACNB4, EMD, ACTC1, GNAI2, ADCY6, PRKACG, ACE, ACTB, TGFB2, SGCD, CAPN3, IGF2, GNAS, ATP2A1, DAG1, TNF, CACNA1D, ADCY1, ACTN1, ITGA2, COL2A1, CACNA1F, TPM2, CACNB2, TGFBR1, EP300, PRKG1, TNNT2, ADCY5, TNC, CAV3, CD44, ITGB3, ITGA8, ITPR1, IGF1, SGCA, MYBPC3, MYLK, TGFB3, DMD, ITGB2, AKT1, BIN1, ACTN2, FN1, IL1B, TTN, AQP2, F13A1, PLN, ITGA6, MYH6, FLNA, KCNMA1, NOS2, ACTG1, LAMA2, TGFB1, KCNJ10, PTPN11, ITGB4, PRKACA, CACNA1C, SOS1, SGCG, CACNA1S, GRIN2B, EPS8, ITGA7, MYH11, ATP2A2, NEB, TPM3

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Viral myocarditisYesN6.83168e-065.6485

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, BARAITSER-WINTER SYNDROME 1, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {PSORIASIS SUSCEPTIBILITY 1}, LEUKODYSTROPHY, HYPOMYELINATING, 4, DEAFNESS, AUTOSOMAL DOMINANT 20/26, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, BURKITT LYMPHOMA, ?CARDIOMYOPATHY, DILATED, 2A, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYOPATHY, DISTAL, 4, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, CARDIOMYOPATHY, DILATED, 3B, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, SHORT SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, LEUKOCYTE ADHESION DEFICIENCY, 46,XX SEX REVERSAL, TYPE 2, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, BARAITSER-WINTER SYNDROME 2, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CLOVE SYNDROME, SOMATIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, THROMBOCYTOPENIA 4, DYSTONIA-11, MYOCLONIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, KERATOSIS, SEBORRHEIC, SOMATIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LIANG DISTAL MYOPATHY, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, RUBINSTEIN-TAYBI SYNDROME 2, ?PROGESTERONE RESISTANCE, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, TUBEROUS SCLEROSIS 2, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MALFORMATION OF THE HEART, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, EPIDERMAL NEVUS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, {PARKINSON DISEASE 18}, PULMONARY HYPERTENSION, PRIMARY, 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, IMMUNODEFICIENCY 36, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

48

FASLG, SOX9, FLNC, CAV1, SGCE, B2M, SGCD, ACTG1, POMC, ACTB, SGCA, HLA-G, LAMA2, RPL5, DAG1, TNF, DMD, HLA-DRB1, TNNI3, CD82, PRF1, HLA-B, PGR, ITGB2, IFNG, EIF4G1, MYH7, CCND1, IL10, SGCG, CD40LG, SGCB, HLA-DQB1, CYCS, MYC, CD44, EP300, PIK3CA, HSPD1, HLA-C, SPRY2, CALR, PTEN, CD40, CASP8, HLA-DQA1, MYH6, PIK3R1

1, 10, 11, 12, 13, 14, 15, 17, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, X0
Infectious diseases: BacterialYesN1.48538e-072.31652

{PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, SUPRANUCLEAR PALSY, PROGRESSIVE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, DIAMOND-BLACKFAN ANEMIA 9, HYPER-IGE RECURRENT INFECTION SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 4A, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, AICARDI-GOUTIERES SYNDROME 7, IMMUNODEFICIENCY 15, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, SELECTIVE T-CELL DEFECT, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 38, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?IMMUNODEFICIENCY 39, DESMOID DISEASE, HEREDITARY, KERATOSIS PALMOPLANTARIS STRIATA I, AD, HYPERPROINSULINEMIA, RETINITIS PIGMENTOSA, DYSTONIA-11, MYOCLONIC, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, DANON DISEASE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, THROMBOCYTOPENIA 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, ALPHA-2-MACROGLOBULIN DEFICIENCY, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, RENAL TUBULAR DYSGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATRIAL FIBRILLATION, FAMILIAL, 3, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, BASAL LAMINAR DRUSEN, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, VON WILLEBRAND DISEASE, TYPE 1, LEPRECHAUNISM, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HAJDU-CHENEY SYNDROME, C3 DEFICIENCY, SPINOCEREBELLAR ATAXIA 15, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, MICROVILLUS INCLUSION DISEASE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, EHLERS-DANLOS SYNDROME, TYPE 3, SINGLETON-MERTEN SYNDROME 1, SYNDACTYLY, TYPE III, NAXOS DISEASE, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, BENIGN FAMILIAL HEMATURIA, IMMUNODEFICIENCY 44, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, FAMILIAL COLORECTAL CANCER, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, MYOPATHY, MYOFIBRILLAR, 5, HAY-WELLS SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, LONG QT SYNDROME 1, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, IMMUNODEFICIENCY 12, PARKINSON DISEASE 4, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, LYMPHEDEMA, HEREDITARY, IA, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, LEUKODYSTROPHY, HYPOMYELINATING, 6, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, COWDEN SYNDROME 7, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, DEAFNESS, AUTOSOMAL DOMINANT 17, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, GLAUCOMA 1A, PRIMARY OPEN ANGLE, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, CORNELIA DE LANGE SYNDROME 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, NAIL-PATELLA SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, PEROXISOME BIOGENESIS DISORDER 11B, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, ?CATARACT 30, PULVERULENT, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, DEAFNESS, X-LINKED 5, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, ?CARDIOMYOPATHY, DILATED, 2A, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, AGAMMAGLOBULINEMIA 3, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, QUEBEC PLATELET DISORDER, PICK DISEASE, XERODERMA PIGMENTOSUM, GROUP B, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, [ECULIZUMAB, POOR RESPONSE TO], IMMUNODEFICIENCY 20, HETEROTOPIA, PERIVENTRICULAR, ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, MULTIPLE FIBROADENOMAS OF THE BREAST, ?MIRROR MOVEMENTS 3, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, NEPHRONOPHTHISIS 1, JUVENILE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ANEMIA, SIDEROBLASTIC, 4, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, BONE MARROW FAILURE SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, COMPLEMENT FACTOR D DEFICIENCY, CARNEY COMPLEX, TYPE 1, MELNICK-NEEDLES SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BLAU SYNDROME, SPINOCEREBELLAR ATAXIA 14, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, NEMALINE MYOPATHY 5, AMISH TYPE, FAMILIAL MEDITERRANEAN FEVER, AR, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MYXOMA, INTRACARDIAC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, EPIDERMOLYTIC HYPERKERATOSIS, ACUTE MYELOID LEUKEMIA, M6 TYPE, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, CARDIOMYOPATHY, DILATED, 1NN, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RETICULATE ACROPIGMENTATION OF KITAMURA, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, CINCA SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 1, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, SENIOR-LOKEN SYNDROME-1, NOONAN SYNDROME 9, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, WRINKLY SKIN SYNDROME, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, FRAXE, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ADAMS-OLIVER SYNDROME 5, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, EVEN-PLUS SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, COMMON VARIABLE IMMUNODEFICIENCY 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, SPINOCEREBELLAR ATAXIA 1, ADRENAL CORTICAL CARCINOMA, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, APERT SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, DEAFNESS, AUTOSOMAL DOMINANT 64, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, ?IMMUNODEFICIENCY 22, SPINOCEREBELLAR ATAXIA 17, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 6, DEAFNESS, AUTOSOMAL DOMINANT 20/26, ICHTHYOSIS WITH CONFETTI, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, C4A DEFICIENCY, POLYCYSTIC LIVER DISEASE, C1Q DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, RIPPLING MUSCLE DISEASE, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, IRIDOGONIODYSGENESIS, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, COMPLEMENT FACTOR I DEFICIENCY, ?IMMUNODEFICIENCY 37, 3MC SYNDROME 1, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, FACTOR XIIIA DEFICIENCY, ATRIAL FIBRILLATION, FAMILIAL, 6, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, CARDIOMYOPATHY, DILATED, 1U, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, {OROFACIAL CLEFT 6}, MACULAR DYSTROPHY, PATTERNED, 2, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, C2 DEFICIENCY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, POPLITEAL PTERYGIUM SYNDROME 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, CATARACT 16, MULTIPLE TYPES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FECHTNER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, CONGENITAL DIAPHRAGMATIC HERNIA, FRONTOMETAPHYSEAL DYSPLASIA, AMYOTROPHY, HEREDITARY NEURALGIC, LOEYS-DIETZ SYNDROME 2, ATRANSFERRINEMIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, AORTIC VALVE DISEASE 2, DEAFNESS, AUTOSOMAL RECESSIVE 68, IMMUNODEFICIENCY 43, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SPINOCEREBELLAR ATAXIA 21, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), ALPORT SYNDROME, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, HOLOPROSENCEPHALY-3, PEROXISOME BIOGENESIS DISORDER 2B, BOOMERANG DYSPLASIA, RETINITIS PIGMENTOSA 38, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, VAN DER WOUDE SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PARKINSON DISEASE 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, OOCYTE MATURATION DEFECT 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CHYLOMICRON RETENTION DISEASE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, ATELOSTEOGENESIS, TYPE I, AXENFELD-RIEGER SYNDROME, TYPE 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OSSEOUS HETEROPLASIA, PROGRESSIVE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, LIMB-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 11, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CHOROID PLEXUS PAPILLOMA, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, PAPILLORENAL SYNDROME, JERVELL AND LANGE-NIELSEN SYNDROME 1, {PSORIASIS SUSCEPTIBILITY 1}, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KAPPA LIGHT CHAIN DEFICIENCY, LOEYS-DIETZ SYNDROME 5, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, VITAMIN D-DEPENDENT RICKETS, TYPE I, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, INFANTILE MYOFIBROMATOSIS 1, LEFT VENTRICULAR NONCOMPACTION 7, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 8, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, SMALL CELL CANCER OF THE LUNG, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, LEUKODYSTROPHY, HYPOMYELINATING, 12, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, TANGIER DISEASE, LARSEN SYNDROME, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, MIRROR MOVEMENTS 1, JOUBERT SYNDROME 4, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, COMPLEMENT FACTOR H DEFICIENCY, ALAGILLE SYNDROME 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, HYPOPLASTIC LEFT HEART SYNDROME 1, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, FAMILIAL MEDITERRANEAN FEVER, AD, MAY-HEGGLIN ANOMALY, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, BRACHYDACTYLY, TYPE A1, D, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 17, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MASP2 DEFICIENCY, RETINITIS PIGMENTOSA 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LADD SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, RING DERMOID OF CORNEA, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, SPINOCEREBELLAR ATAXIA 5, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ?HYPERPROLACTINEMIA, POLYCYTHEMIA VERA, SOMATIC, GLUCOCORTICOID RESISTANCE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ZIMMERMANN-LABAND SYNDROME 2, BARAITSER-WINTER SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MYOPATHY, DISTAL, 4, [NOVELTY SEEKING PERSONALITY], NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 2, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SUPRAVALVAR AORTIC STENOSIS, SPINOCEREBELLAR ATAXIA 28, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, PSEUDOHYPOPARATHYROIDISM IA, ACNE INVERSA, FAMILIAL, 3, SMITH-LEMLI-OPITZ SYNDROME, ADULT SYNDROME, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PERRY SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PITUITARY DEPENDENT HYPERCORTISOLISM, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, NEUTROPENIA, CYCLIC, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, JACKSON-WEISS SYNDROME, BRACHYDACTYLY, TYPE E2, INCONTINENTIA PIGMENTI, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, GALACTOSIALIDOSIS, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SHORT QT SYNDROME 2, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, THROMBOCYTHEMIA 3, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, IMMUNODEFICIENCY 33, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, CEREBRAL AMYLOID ANGIOPATHY, LI-FRAUMENI SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, PLATELET GLYCOPROTEIN IV DEFICIENCY, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, CALCIUM OXALATE UROLITHIASIS, {LEPROSY, SUSCEPTIBILITY TO}, DEAFNESS, AUTOSOMAL RECESSIVE 24, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, EHLERS-DANLOS SYNDROME, TYPE IV, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LISSENCEPHALY 3, WAGNER SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, ANGIOEDEMA, HEREDITARY, TYPES I AND II, SPERMATOGENIC FAILURE 10, BLEEDING DISORDER, PLATELET-TYPE, 11, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, PANCREATIC CANCER/MELANOMA SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, MUCKLE-WELLS SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PAGET DISEASE OF BONE 3, BRACHYDACTYLY, TYPE A2, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, THROMBOCYTOPENIA 4, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MENTAL RETARDATION, X-LINKED 90, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, SPINOCEREBELLAR ATAXIA 42, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, DYSAUTONOMIA, FAMILIAL, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CARDIOMYOPATHY, HYPERTROPHIC, 7, ATELOSTEOGENESIS, TYPE III, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

424

CA2, CALM1, MEF2C, CUL3, CIITA, COL3A1, ATP6V1B1, SFTPA2, PRPF3, PAFAH1B1, CFD, B2M, IL1B, RAB7A, MERTK, TGFBR2, CREBBP, MAFB, DYNC2H1, JPH2, RASA1, APOA1, SLC9A3R1, ISG15, IFNAR2, CD79A, GNAS, RNF216, C2, C5, MTOR, TNNI3, CST3, TAF6, BMPR1A, PIK3CD, AIFM1, IL10, CCND1, JAK2, TNNT1, MIB1, ITPR1, HSPD1, T, TP63, TYK2, SEPT9, CAV3, TCIRG1, ALDOA, AGL, CTNNB1, SMAD4, ETV6, C1R, CD40LG, PDGFRB, CTSD, CD82, KCNQ1, TUBB, AKT1, TAPBP, DIAPH1, STUB1, DNAL4, A2M, CSNK1D, PEX13, SDC3, HSPA9, RAF1, LAMP2, DIABLO, POMC, NOD2, TNFSF11, MASP1, AQP5, HTR1A, KNG1, NPHP1, SEC23A, PIK3R2, PTPN11, CXCR4, SPG7, VPS11, IGFBP7, RFXANK, PTPRC, COL4A3, STAR, FCGR3A, CALR, CD36, IFNGR1, HLA-C, TF, ALB, SOS2, PEX5, CTNNA1, DNM2, DSP, APOB, MYC, MT-CO2, ACTB, PSEN1, NGF, CDK4, REN, FGA, CYCS, SOS1, PRF1, S1PR2, MEFV, FGG, ERBB2, GNAI2, CD81, RYR2, SERPING1, TGFB2, CNTN2, PLAU, NPPA, NME1, HBA1, IL12B, NOTCH1, ERCC3, CBS, CORO1A, CD3E, SCARB2, CFL2, VCAN, CARD9, PTH, MYOM1, JUP, GP6, CASR, ACTA2, RB1, STAT3, MALT1, NCF1, APP, MYOC, SFTPA1, IGF1, FLT4, SRP72, MEF2A, KIF2A, CYP27B1, KLC2, NFKB2, BMP2, DRD2, VDR, ATXN1, ERBB3, TP53, HLA-DQB1, IKBKB, ACTN2, AQP2, SNCA, PSTPIP1, PRKCG, ERBB4, IRF1, ELANE, LYZ, DYNC1H1, TLR2, SCYL1, DLG3, KRT8, PTS, TRAC, ACTG1, KRT1, NTRK1, IGF1R, SPTLC1, STAT1, APPL1, CD46, TUBA4A, RFX5, NOTCH2, PLG, FCGR2B, ACTN4, IL6, CRYAB, APC, DAG1, ADAM17, EPOR, SMAD3, TUBB8, TNF, NLRP3, ODC1, SCRIB, SERPINE1, MPDZ, C3AR1, F2, MYH14, ADRB2, IFIH1, FAS, SQSTM1, IKBKG, CTSA, ATP6V1B2, AGT, IGKC, GNAI3, LEP, CDK5, TRAPPC2, CDH1, MBL2, PIK3CA, C1QC, TBK1, PRKACG, ADAM10, DNM1, SMARCA4, RUNX1, CBL, CASP8, EGFR, NOS3, MAPT, CAD, IL21, KIF5A, ACTN1, HNRNPK, RFXAP, ABCA1, NFKBIL1, MET, NFKBIA, IRF8, SUCLA2, EEF1A2, C3, TNFRSF1A, TMEM173, SPRY2, PTPN1, WAS, INS, FCGR2A, CD44, ITGB3, RPS14, PAX2, LMX1B, HLA-DRB1, FLNA, TGFB1, IL10RB, RDX, BRCA1, ITGB2, PTHLH, FN1, TUBB3, KCNMA1, ATP5A1, DCTN1, NOS2, RPS10, POLD1, DSG1, PTEN, F13A1, PIK3R5, CLEC7A, CFH, STAT2, PTPRZ1, PFKM, SSR4, TUBB2B, PRKCD, CHEK2, TLR4, BCL10, HPCA, TBP, MYH9, CLDN1, FADD, BAX, ZHX2, CLASP1, SEPT12, HRAS, KRT10, OCLN, ZAP70, IRF6, PRLR, FLNB, PDGFB, CAV1, DRD4, PRPH, MYD88, TUBB1, IRF7, PPARG, CD19, AGTR1, PRKAR1A, EDN1, BTK, IL10RA, CDKN2A, TNPO3, MASP2, VIM, AFG3L2, HIP1, CD40, ARHGDIA, HLA-DQA1, ATP6V0A2, IRS1, ANXA5, STT3A, KRAS, TUBA1A, SYN2, AKT2, NR3C1, CDKN1B, KRT18, IKBKAP, UCHL1, IFNG, C4A, TJP2, HTT, DCN, TGFBR1, EP300, TAF1, ZBTB16, NLRP1, SEC23B, JAM3, CFB, TUBA8, CACNA1G, GJA1, LDHA, VWF, TGFB3, PLS3, NLRC4, MYO5B, FOXP3, C1QA, TUBB2A, PLK4, VCP, CFI, C1QB, SEC63, CCL2, ITCH, MUSK, SERPINA1, GNRH1, TUBB4A, RUNX2, SELP, LCK, IFNGR2, BIN1, DHCR7, CASP10, IRF3, NFKB1, ESR1, PRKACA, INSR, CARD11, AKT3, DLC1, PITX2, FGFR2, PLCG2, CTNNA3, RPL11, FLNC, SPTBN2, DCC, FASLG, SELE, SMAD6, SAR1B, CFTR, BMPR1B, CR2, PIK3R1, KDR, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Steroid hormone biosynthesisNoN0.01056275.8291

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, LONG QT SYNDROME 15, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GLUCOCORTICOID RESISTANCE, NEUROFIBROMATOSIS-NOONAN SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, NEUROFIBROMATOSIS, FAMILIAL SPINAL, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, ICHTHYOSIS, X-LINKED, HYPERPROINSULINEMIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, ESSENTIAL HYPERTENSION, [BILIRUBIN, SERUM LEVEL OF, QTL1], PREMATURE OVARIAN FAILURE 7, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ATRIOVENTRICULAR SEPTAL DEFECT 4, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, LONG QT SYNDROME 14, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ALPHA-METHYLACETOACETIC ACIDURIA, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, VENTRICULAR SEPTAL DEFECT 1, NEUROFIBROMATOSIS, TYPE 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, CORTISONE REDUCTASE DEFICIENCY 2, AROMATASE EXCESS SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, KAHRIZI SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, KLEEFSTRA SYNDROME, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, CRIGLER-NAJJAR SYNDROME, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE II, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, ATRIAL SEPTAL DEFECT 2, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, LATHOSTEROLOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, [GILBERT SYNDROME], {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, GLAUCOMA 1A, PRIMARY OPEN ANGLE, APPARENT MINERALOCORTICOID EXCESS, GLAUCOMA 1, OPEN ANGLE, E, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, WATSON SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, {PANIC DISORDER, SUSCEPTIBILITY TO}, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, SPERMATOGENIC FAILURE 8, IMMUNODEFICIENCY 46, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, PROTEUS SYNDROME, SOMATIC

49

CALM1, UGT1A1, EIF2B1, PPARG, CYP7B1, NR3C1, SRD5A3, CYP19A1, ACTN4, NR5A1, TGFB1, AKR1C2, SC5D, CYP11B2, SRD5A2, CYP3A5, SLCO1B1, ACAT1, HNF4A, LEP, UGT1A4, HSD11B2, NR1I3, MSMO1, VDR, MRPL3, IL6, CYP11B1, NR0B1, CYP1B1, GATA4, HSD17B3, INS, ALB, HSD3B2, AKT1, AKR1C4, TFRC, POR, STS, NF1, CYP21A2, TERT, POMC, HSD11B1, ESR1, CYP17A1, AKR1D1, COMT

1, 10, 11, 12, 14, 15, 16, 17, 19, 2, 20, 22, 3, 4, 5, 6, 7, 8, 9, X0
Chagas disease (American trypanosomiasis)YesN1.66714e-104.9178

HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PITUITARY DEPENDENT HYPERCORTISOLISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, SHORT SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, AURICULOCONDYLAR SYNDROME 3, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MEIER-GORLIN SYNDROME 5, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 35, ATRIOVENTRICULAR SEPTAL DEFECT 3, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, C3 DEFICIENCY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, SYNDACTYLY, TYPE III, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, NEPHROTIC SYNDROME, TYPE 8, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ATRANSFERRINEMIA, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, IMMUNODEFICIENCY 19, GLAUCOMA 1A, PRIMARY OPEN ANGLE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, KERATOSIS, SEBORRHEIC, SOMATIC, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], INCONTINENTIA PIGMENTI, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, ?IMMUNODEFICIENCY 25, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, THROMBOCYTHEMIA 3, IMMUNODEFICIENCY 33, {MELANOMA, CUTANEOUS MALIGNANT, 3}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 4, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, GLIOMA SUSCEPTIBILITY 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, AURICULOCONDYLAR SYNDROME 1, CLOVE SYNDROME, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, DYSTONIA 25, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, {LEPROSY, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PLASMA FIBRONECTIN DEFICIENCY, ?IMMUNODEFICIENCY 22, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?PRECOCIOUS PUBERTY, CENTRAL, 1, LOEYS-DIETZ SYNDROME 5, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, PSEUDOHYPOPARATHYROIDISM IA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, C1Q DEFICIENCY, LOEYS-DIETZ SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, METACHONDROMATOSIS, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, SPINOCEREBELLAR ATAXIA 12, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ADRENAL CORTICAL CARCINOMA, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, LOEYS-DIETZ SYNDROME 4, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

108

NFKB1, CD3D, FAS, GNAS, IKBKG, GNAI3, AGTR1, EDN1, CTNNB1, BTK, B2M, KISS1R, AKT2, CDC6, PROK2, PIK3CA, PRF1, ARHGDIA, TGFBR2, TBK1, GNAI2, C1QC, ACE, TGFB2, GNAQ, IL10, CASP8, PIK3R5, IL12B, NOS3, CD3G, TNF, MYD88, MTOR, ADCY1, CD3E, PIK3CD, NFKBIA, CBL, MAFB, CD247, IFNG, IRF8, TGFBR1, EP300, C3, HSPD1, TNFRSF1A, PPP2R2B, STAT3, TYK2, IFNGR1, TF, GJA1, CD40, C1R, STAT1, TGFB3, IGFBP7, MYOC, GNA11, PPP2R1A, C1QA, FN1, FGFR1, CFTR, PRKCD, C1QB, FASLG, IKBKB, AKT1, IL1B, PPP2R1B, IRF1, PLG, TLR2, LCK, IFNGR2, NGF, GNAO1, NOS2, TLR4, KNG1, PIK3R2, TGFB1, PTPN11, ATM, GNAL, PLCB1, INSR, POMC, AKT3, FADD, TP53, IL6, DCN, APP, HLA-C, CDK4, CALR, SMAD3, NR3C1, ESR1, PIK3R1, JAK2, SERPINE1, CCL2, PLCB4

1, 10, 11, 12, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
African trypanosomiasisYesN0.00121116.6875

STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ATRIOVENTRICULAR SEPTAL DEFECT 3, PIERSON SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, PARKINSON DISEASE 4, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, OCULODENTODIGITAL DYSPLASIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, MACROCEPHALY/AUTISM SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, QUESTION MARK EARS, ISOLATED, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, BANNAYAN-RILEY-RUVALCABA SYNDROME, AURICULOCONDYLAR SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PARKINSON DISEASE 1, GLANZMANN THROMBASTHENIA, CARDIOMYOPATHY, DILATED, 1JJ, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, AURICULOCONDYLAR SYNDROME 1, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, SYNDACTYLY, TYPE III, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AURICULOCONDYLAR SYNDROME 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, TANGIER DISEASE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, SUPRAVALVAR AORTIC STENOSIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, AGAMMAGLOBULINEMIA, X-LINKED 1, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ATRIAL FIBRILLATION, FAMILIAL, 6, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ATRIAL STANDSTILL 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMAL NEVUS, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPINOCEREBELLAR ATAXIA 14, IMMUNODEFICIENCY 36, LEOPARD SYNDROME 1, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}

35

ITGB3, HBB, GJA1, APOA1, NPPA, FAS, HBA1, MYD88, PTPN11, ATM, CD40LG, TNF, IL12B, PLCB1, SNCA, SELE, EDN1, GNAQ, BTK, PRKDC, IL10, IL6, IFNG, FASLG, LAMB2, TUBG1, LAMA4, HRAS, IL1B, PTPN1, PRKCG, PTEN, ALB, PLCB4, PIK3R1

1, 10, 11, 12, 16, 17, 19, 2, 20, 3, 4, 5, 6, 7, 8, 9, X0
LeishmaniasisYesN0.0003752515.14107

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LONG QT SYNDROME 15, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?IMMUNODEFICIENCY 39, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PITUITARY ADENOMA, ACTH-SECRETING, ATRIOVENTRICULAR SEPTAL DEFECT 3, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ESSENTIAL HYPERTENSION, ?IMMUNODEFICIENCY 22, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SYNDACTYLY, TYPE III, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], BURKITT LYMPHOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LISSENCEPHALY 3, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, LOEYS-DIETZ SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, KAPPA LIGHT CHAIN DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, THROMBOCYTHEMIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, ALPHA-2-MACROGLOBULIN DEFICIENCY, IMMUNODEFICIENCY 33, {MELANOMA, CUTANEOUS MALIGNANT, 3}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, PLASMA FIBRONECTIN DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOPLASTIC LEFT HEART SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LOEYS-DIETZ SYNDROME 5, GLYCOGEN STORAGE DISEASE XI, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, INCONTINENTIA PIGMENTI, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, 46XY SEX REVERSAL 6, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, C3 DEFICIENCY, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, FACTOR XIIIA DEFICIENCY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, LOEYS-DIETZ SYNDROME 4, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC

68

CALM1, LCK, TAB2, TGFBR1, IFNGR2, APP, CYBB, GJA1, FCGR2B, TUBA1A, TLR4, NOS2, POMC, LDHA, IL12B, CD40LG, TGFB3, TGFB2, KNG1, TNF, CIITA, IGKC, HLA-DRB1, NFKB1, FCGR2A, MAP3K1, SERPINE1, CD82, ITGB2, AKT1, FN1, JAK2, IL4R, KDR, IL6, IL10, WAS, NFKBIA, STAT1, FCGR3A, IKBKG, HLA-DQB1, IRF8, MYC, NCF2, HLA-DQA1, TGFB1, C3, A2M, CD81, NCF4, IL1B, CDK4, SYN1, PTPN1, IFNG, ERBB2, NCF1, F13A1, TLR2, NGF, CYBA, STAT3, IRF1, GNAI2, IFNGR1, IRF7, MYD88

1, 11, 12, 14, 16, 17, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
AmoebiasisYesN3.17207e-204.6269

CORNEAL DYSTROPHY, LATTICE TYPE I, MYOPATHY, MYOFIBRILLAR, 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, OSTEOGENESIS IMPERFECTA, TYPE I, CAMURATI-ENGELMANN DISEASE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, CORTICAL MALFORMATIONS, OCCIPITAL, CZECH DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA WITH COLOBOMA 5, CORNEAL DYSTROPHY, AVELLINO TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, C8 DEFICIENCY, TYPE II, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, SYNDACTYLY, TYPE III, CARDIOMYOPATHY, DILATED, 1JJ, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, EPIDERMOLYSIS BULLOSA PRURIGINOSA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, SPINOCEREBELLAR ATAXIA 14, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CARASIL SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, PORETTI-BOLTSHAUSER SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, LISSENCEPHALY 5, PORENCEPHALY 1, SUPRAVALVAR AORTIC STENOSIS, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PYCNODYSOSTOSIS, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, ?RETINAL ARTERIES, TORTUOSITY OF, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, AURICULOCONDYLAR SYNDROME 3, EBD, BART TYPE, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IA, ?STEEL SYNDROME, AORTIC VALVE DISEASE 2, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUTROPENIA, CYCLIC, IMMUNODEFICIENCY 43, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, IMMUNODEFICIENCY 35, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ATRIOVENTRICULAR SEPTAL DEFECT 3, TOENAIL DYSTROPHY, ISOLATED, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PORENCEPHALY 2, EPITHELIAL RECURRENT EROSION DYSTROPHY, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, OSTEOGENESIS IMPERFECTA, TYPE IV, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ESSENTIAL HYPERTENSION, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, EHLERS-DANLOS SYNDROME, TYPE 3, PSEUDOHYPOPARATHYROIDISM IC, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, CATARACT 16, MULTIPLE TYPES, PARKINSON DISEASE 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, AMELOGENESIS IMPERFECTA, TYPE IA, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, BENIGN FAMILIAL HEMATURIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NOONAN SYNDROME 9, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, EPIDERMOLYSIS BULLOSA, PRETIBIAL, FAMILIAL COLORECTAL CANCER, BLEEDING DISORDER, PLATELET-TYPE, 15, AURICULOCONDYLAR SYNDROME 1, KERATOSIS, SEBORRHEIC, SOMATIC, DONNAI-BARROW SYNDROME, AURICULOCONDYLAR SYNDROME 2, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, BURKITT LYMPHOMA, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, EPIDERMAL NEVUS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], ARGININEMIA, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, COLE-CARPENTER SYNDROME 1, CAFFEY DISEASE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 91, ?DEAFNESS, X-LINKED 6, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, RENAL TUBULAR DYSGENESIS, {MELANOMA, CUTANEOUS MALIGNANT, 3}, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, SMALL CELL CANCER OF THE LUNG, SOMATIC, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, AVASCULAR NECROSIS OF THE FEMORAL HEAD, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DEAFNESS, AUTOSOMAL RECESSIVE 53, DYSTONIA 25, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, {LEPROSY, SUSCEPTIBILITY TO}, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, DEAFNESS, AUTOSOMAL RECESSIVE 24, HEMOCHROMATOSIS TYPE 1, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, PCWH SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, PLASMA FIBRONECTIN DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, FIBROCHONDROGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, LOEYS-DIETZ SYNDROME 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, LOEYS-DIETZ SYNDROME 5, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, CORNEAL DYSTROPHY, GROENOUW TYPE I, FIBROCHONDROGENESIS 2, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ERYTHROCYTOSIS, FAMILIAL, 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, CATARACT 21, MULTIPLE TYPES, TRANSIENT BULLOUS OF THE NEWBORN, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SMED STRUDWICK TYPE, ?FIBROMATOSIS, GINGIVAL, 1, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, PAGET DISEASE OF BONE 3, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, OSTEOGENESIS IMPERFECTA, TYPE XVII, LARYNGOONYCHOCUTANEOUS SYNDROME, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STICKLER SYNDROME, TYPE III, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, DEAFNESS, AUTOSOMAL DOMINANT 13, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, QUEBEC PLATELET DISORDER, 46,XX SEX REVERSAL, TYPE 2, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, LEGG-CALVE-PERTHES DISEASE, FACTOR XIIIA DEFICIENCY, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, [ECULIZUMAB, POOR RESPONSE TO], C8 DEFICIENCY, TYPE I, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CARDIOMYOPATHY, DILATED, 1II, ?MYOPATHY, SCAPULOHUMEROPERONEAL, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, LOEYS-DIETZ SYNDROME 4, PIERSON SYNDROME, PROTEUS SYNDROME, SOMATIC, SMITH-KINGSMORE SYNDROME, MARSHALL SYNDROME

145

LAMB1, NFKB1, HSPB1, MYC, SERPINB6, COL3A1, COL11A2, COL5A1, EDN1, DDR2, SOX10, PLAU, B2M, ITGA2, RAB7A, LAMB2, ADRB2, PIK3CA, TGFBI, IRS1, GNAI2, COL2A1, ACTA1, SOX9, TGFB2, GNAQ, LAMA4, RB1CC1, PIK3R5, P4HB, IL12B, SQSTM1, NOS3, IL6, DAG1, TNF, MTOR, ADCY1, COL7A1, LEP, LAMA1, COL1A2, PIK3CD, COL1A1, JAK2, IL10, PRKACG, CRYAB, IFNG, HLA-DRB1, COL4A6, SPARC, TGFBR1, RB1, STAT3, TYK2, PIK3R2, LAMB3, SOS2, APP, ITGB3, GNA11, GJA1, IGF1, COL4A4, CTSK, FLT4, COL17A1, CD40LG, TGFB3, LAMA3, ARG1, VHL, COL4A1, BMP2, RDX, ITGB2, AKT1, MMP2, ELANE, PRKDC, CFTR, LRP2, COL25A1, COL27A1, LAMC3, FN1, SNCA, IL1B, PRKCG, F13A1, CD59, IRF1, MAF, ITGA6, TLR2, KNG1, C8A, NGF, PRKCD, NOS2, TUBG1, TLR4, LAMC2, LAMA2, TGFB1, IGF2, COL5A2, ATM, GNAL, COL11A1, ITGB4, REN, PLCB1, PRKACA, PLG, SOS1, ACTN4, COL4A3, PIK3R1, CDKN1B, COL4A2, GNAS, COL4A5, SMAD6, CD36, ACTN1, HRAS, EGFR, CDK4, ACTN2, C5, SELP, HTRA1, MMP1, ALB, HSPG2, CFD, CDH1, CASP8, PLCB4, C8B, PROK2, SERPINE1, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
MalariaYesN4.51543e-125.78134

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ATROPHODERMA VERMICULATUM, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, CZECH DYSPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, CEROID LIPOFUSCINOSIS NEURONAL 6, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, STICKLER SYNDROME, TYPE I, SICKLE CELL ANEMIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, CONGENITAL DIAPHRAGMATIC HERNIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, PSEUDOACHONDROPLASIA, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, ATRIOVENTRICULAR SEPTAL DEFECT 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, OSTEOGENESIS IMPERFECTA, TYPE IV, OSTEOGENESIS IMPERFECTA, TYPE III, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, OCULODENTODIGITAL DYSPLASIA, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SYNDACTYLY, TYPE III, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, [BLOOD GROUP, DUFFY SYSTEM], EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, BURKITT LYMPHOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, KAPPA LIGHT CHAIN DEFICIENCY, NIEMANN-PICK DISEASE, TYPE A, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, THROMBOCYTHEMIA 3, ALPHA-2-MACROGLOBULIN DEFICIENCY, ALZHEIMER DISEASE-2, {MELANOMA, CUTANEOUS MALIGNANT, 3}, BRACHYDACTYLY, TYPE E2, OSTEOGENESIS IMPERFECTA, TYPE II, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, BANNAYAN-RILEY-RUVALCABA SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, KNIEST DYSPLASIA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SPONDYLOPERIPHERAL DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, BRACHYDACTYLY, TYPE A2, AVASCULAR NECROSIS OF THE FEMORAL HEAD, MACROCEPHALY/AUTISM SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NIEMANN-PICK DISEASE, TYPE B, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {LEPROSY, SUSCEPTIBILITY TO}, HEMOCHROMATOSIS TYPE 1, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, NASU-HAKOLA DISEASE, ?IMMUNODEFICIENCY 22, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LOEYS-DIETZ SYNDROME 5, WAGNER SYNDROME 1, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, HYPOPLASTIC LEFT HEART SYNDROME 1, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, WOLCOTT-RALLISON SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 39, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, METACHONDROMATOSIS, LEGG-CALVE-PERTHES DISEASE, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, SEA-BLUE HISTIOCYTE DISEASE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, LOEYS-DIETZ SYNDROME 4, LEOPARD SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

72

LCK, FASLG, APOE, APP, TGFB2, HBB, MMP2, GJA1, IL10, NOS2, CD46, TLR4, ALB, KNG1, NGF, HBA1, TGFB1, COL1A2, CD40LG, TGFB3, ITGB3, LRP1, VCAN, AGT, MYD88, IGKC, CD82, CDK4, MET, LEP, PTHLH, PTPN11, PLG, ITGB2, CCL2, BMP2, TYROBP, SMPD1, ELANE, B2M, ACTN4, MMP1, IL6, PTH, JAK2, ACKR1, THBS4, DCN, KAT5, MYC, HGF, CD36, A2M, AKT1, IL1B, IL12B, EIF2AK3, SELE, IFNG, PTEN, TLR2, CD40, TNF, STAT3, CDH1, CASP8, TAPBP, COL2A1, COMP, CD81, SELP, PDGFB

1, 10, 11, 12, 14, 15, 16, 17, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
ToxoplasmosisYesN1.82184e-104.61191

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, MYOPATHY, MYOFIBRILLAR, 2, ATROPHODERMA VERMICULATUM, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PITUITARY DEPENDENT HYPERCORTISOLISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, IMMUNODEFICIENCY 15, SHORT SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA WITH COLOBOMA 5, SELECTIVE T-CELL DEFECT, LONG QT SYNDROME 15, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?IMMUNODEFICIENCY 39, CARDIOMYOPATHY, DILATED, 1JJ, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LISSENCEPHALY 5, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 35, ATRIOVENTRICULAR SEPTAL DEFECT 3, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIOMYOPATHY, DILATED, 1NN, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, PERIODIC FEVER, FAMILIAL, PERRY SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, CATARACT 16, MULTIPLE TYPES, SYNDACTYLY, TYPE III, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, AMELOGENESIS IMPERFECTA, TYPE IA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HEMOPHILIA A, KERATOSIS, SEBORRHEIC, SOMATIC, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, EPIDERMAL NEVUS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LISSENCEPHALY 3, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, LOEYS-DIETZ SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, THROMBOCYTHEMIA 3, OCULOECTODERMAL SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 33, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLIOMA SUSCEPTIBILITY 1, ADRENAL CORTICAL CARCINOMA, PLATELET GLYCOPROTEIN IV DEFICIENCY, AURICULOCONDYLAR SYNDROME 1, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, HYPOPLASTIC LEFT HEART SYNDROME 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PLASMA FIBRONECTIN DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, GLAUCOMA 1A, PRIMARY OPEN ANGLE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LOEYS-DIETZ SYNDROME 5, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, INFANTILE MYOFIBROMATOSIS 1, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, INCONTINENTIA PIGMENTI, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, KOSAKI OVERGROWTH SYNDROME, 46XY SEX REVERSAL 6, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, METACHONDROMATOSIS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, CORTICAL MALFORMATIONS, OCCIPITAL, ?CARDIOMYOPATHY, DILATED, 2A, PORETTI-BOLTSHAUSER SYNDROME, LARYNGOONYCHOCUTANEOUS SYNDROME, THROMBOCYTOPENIA 4, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, OSTEOLYSIS, FAMILIAL EXPANSILE, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, FACTOR XIIIA DEFICIENCY, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, IMMUNODEFICIENCY 36, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CARDIOMYOPATHY, DILATED, 1II, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, LOEYS-DIETZ SYNDROME 4, CARDIOMYOPATHY, HYPERTROPHIC, 7, PIERSON SYNDROME, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

114

CALM1, LAMB1, TNNI3, MAP3K1, IKBKG, CYCS, IRF7, PPARG, CDK5, CD82, CDK4, CTNNB1, AKT2, LAMB2, IL10RA, NFKBIA, PIK3CA, PDGFRB, CREBBP, GNAI2, TGFB2, KRAS, LAMA4, TUBA1A, PIK3R5, IL12B, LRP1, TNF, MYD88, MTOR, LAMA1, LEP, PIK3CD, IFNG, IL10, HLA-DQA1, CCND1, JAK2, HLA-DRB1, IRF8, TGFBR1, HSPD1, TNFRSF1A, NLRP1, TNFRSF11A, RELN, STAT3, TYK2, IFNGR1, HAX1, TAB2, IRF1, GNAI3, GJA1, IGF1, CD40, CD40LG, TGFB3, MYOC, LAMA3, LAMB3, IL10RB, ALOX5, FN1, ELANE, PRKDC, PRKCD, TP53, FASLG, IKBKB, DCTN1, CASP8, LAMC3, AKT1, IL1B, RAF1, F13A1, POMC, CIITA, STAT2, ITGA6, PLG, TLR2, KNG1, IFNGR2, NGF, GNAO1, NOS2, TUBG1, TLR4, LAMC2, PIK3R2, TGFB1, LAMA2, PTPN11, CXCR4, IRF3, STAT1, NFKB1, F8, AKT3, LDLR, IL6, CRYAB, APP, CD36, HLA-DQB1, ZAP70, ALB, HSPG2, ESR1, PIK3R1, SERPINE1, SHH

1, 10, 11, 12, 14, 16, 17, 18, 19, 2, 20, 21, 3, 4, 5, 6, 7, 8, 9, X0
Wnt signaling pathwayYesN4.11839e-074.36255

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HETEROTAXY, VISCERAL, 5, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA WITH COLOBOMA 5, LONG QT SYNDROME 15, FOCAL DERMAL HYPOPLASIA, OLIGODONTIA-COLORECTAL CANCER SYNDROME, LI-FRAUMENI SYNDROME, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, VAN BUCHEM DISEASE, POLYCYTHEMIA VERA, SOMATIC, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, DESMOID DISEASE, HEREDITARY, CAUDAL REGRESSION SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EXUDATIVE VITREORETINOPATHY 4, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SPINOCEREBELLAR ATAXIA 14, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, OROFACIAL CLEFT 11, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, GILLESPIE SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HYPOPARATHYROIDISM FAMILIAL ISOLATED, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, FRONTOTEMPORAL DEMENTIA, CONGENITAL DIAPHRAGMATIC HERNIA, THROMBOCYTOPENIA 5, HEMOCHROMATOSIS TYPE 1, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, FRONTOMETAPHYSEAL DYSPLASIA, AURICULOCONDYLAR SYNDROME 3, ALZHEIMER DISEASE, TYPE 4, TOOTH AGENESIS, SELECTIVE, 7, ACNE INVERSA, FAMILIAL, 3, AORTIC VALVE DISEASE 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, RUBINSTEIN-TAYBI SYNDROME, PROGRESSIVE MYOCLONUS EPILEPSY WITH ATAXIA, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ADAMS-OLIVER SYNDROME 5, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MODY, TYPE I, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, GLIOMA SUSCEPTIBILITY 1, {AUTISM, SUSCEPTIBILITY TO, 18}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, LOEYS-DIETZ SYNDROME 3, INCONTINENTIA PIGMENTI, HOLOPROSENCEPHALY-3, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, PERRY SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, TOOTH AGENESIS, SELECTIVE, 4, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MACROCEPHALY/AUTISM SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, EHLERS-DANLOS SYNDROME, TYPE 3, FOVEAL HYPOPLASIA 1, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, ATRIAL SEPTAL DEFECT 9, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, VESICOURETERAL REFLUX 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ATRIOVENTRICULAR SEPTAL DEFECT 4, SPLIT-HAND/FOOT MALFORMATION 6, FUHRMANN SYNDROME, FAMILIAL COLORECTAL CANCER, MULLERIAN APLASIA AND HYPERANDROGENISM, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LONG QT SYNDROME 14, PITT-HOPKINS SYNDROME, EXUDATIVE VITREORETINOPATHY 1, AURICULOCONDYLAR SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 6, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, BURKITT LYMPHOMA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, COMMON VARIABLE IMMUNODEFICIENCY 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, CHOROID PLEXUS PAPILLOMA, SCHOPF-SCHULZ-PASSARGE SYNDROME, SERKAL SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, NON-IMMUNE HYDROPS FETALIS, CULLER-JONES SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, WEAVER SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCLEROSTEOSIS 1, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY 33, {MELANOMA, CUTANEOUS MALIGNANT, 3}, OTOPALATODIGITAL SYNDROME, TYPE I, SUPRAVALVAR AORTIC STENOSIS, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, QUESTION MARK EARS, ISOLATED, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ADRENAL CORTICAL CARCINOMA, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, BRACHYDACTYLY, TYPE A2, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ATRIAL SEPTAL DEFECT 2, OPTIC NERVE HYPOPLASIA, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, HYPERPARATHYROIDISM, NEONATAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, KERATITIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, ODONTOONYCHODERMAL DYSPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 1, VAN BUCHEM DISEASE, TYPE 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, COLOBOMA, OCULAR, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, LISSENCEPHALY 3, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, WAGNER SYNDROME 1, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, [BONE MINERAL DENSITY VARIABILITY 1], SPONDYLOCOSTAL DYSOSTOSIS 5, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, PIEBALDISM, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, IRIDOGONIODYSGENESIS, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, DYSTONIA-PARKINSONISM, X-LINKED, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 39, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, OSTEOGENESIS IMPERFECTA, TYPE XV, MENTAL RETARDATION, X-LINKED 90, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, BRACHYDACTYLY, TYPE B1, PICK DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, WAARDENBURG SYNDROME, TYPE 2D, RING DERMOID OF CORNEA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, IMMUNODEFICIENCY, COMMON VARIABLE, 12, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, LOEYS-DIETZ SYNDROME 1, HETEROTOPIA, PERIVENTRICULAR, CARDIOMYOPATHY, DILATED, 1U, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, LEUKEMIA, CHRONIC MYELOID, SOMATIC, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

128

CALM1, MPDZ, HGF, NFKB1, WNT5A, MYC, FAS, IKBKG, PSEN1, PPARG, CDK5, OTX2, CSNK1D, CDH1, FRZB, CHD8, RAB7A, DACT1, MMP1, VCAN, BMP4, VANGL2, SNAI2, WNT4, CREBBP, PRKACG, MUSK, WNT7A, VANGL1, GNAQ, RUNX1, GLI2, TUBA1A, SP7, WNT10B, TCF7L2, TNF, MTOR, EDNRA, EDA, MET, COL1A2, FZD4, BMPR1A, CCND1, PTH, JAK2, TGFBR1, EP300, TAF1, RUNX2, ROR2, T, PRICKLE1, GSC, STAT3, LRP6, PITX2, TAB2, EDN1, CD44, CTNNB1, SMAD4, DVL3, ETV6, MEF2A, PAX2, FLNA, CASR, NFKB2, HNF4A, BMP2, BRCA1, SOX17, AKT1, CCND2, FZD6, AXIN1, VDR, DVL1, AXIN2, TP53, DCTN1, PAX6, EZH2, CDK4, SNCA, PRKCG, PTEN, ITPR3, BCR, GPC3, DLG3, KCNMA1, NODAL, PRICKLE2, PAX3, WNT3, SOST, ATM, GATA6, CARD11, PLCB1, PRKACA, GATA5, TCF4, NOTCH1, WNT10A, SOS1, DNMT1, LRP5, CDKN1B, GATA4, WNT1, PCNA, SMAD6, TBX6, APC, HRAS, GDNF, SMAD3, NR3C1, HSPG2, PLCB4, KDR, SERPINE1, PORCN, SHH

1, 10, 11, 12, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Autoimmune thyroid diseaseYesN0.0002487955.874

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, THYROID DYSHORMONOGENESIS 3, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPERPROINSULINEMIA, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {PSORIASIS SUSCEPTIBILITY 1}, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, METACHONDROMATOSIS, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?IMMUNODEFICIENCY 39, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, CLOVE SYNDROME, SOMATIC, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, KERATOSIS, SEBORRHEIC, SOMATIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {HASHIMOTO THYROIDITIS}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, WHIM SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SUPRAVALVAR AORTIC STENOSIS, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, EPIDERMAL NEVUS, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THYROID DYSHORMONOGENESIS 2A, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, THROMBOCYTHEMIA 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEOPARD SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

40

FASLG, IRF1, IL10, HLA-C, PRF1, FAS, IL12B, PIK3CA, PTPN11, CXCR4, CD40LG, TNF, TGFB1, IRF7, HLA-DRB1, TG, HLA-B, POMC, EGFR, JAK2, TRAC, B2M, IL6, IFNG, STAT1, HSPD1, TRH, CALR, HLA-G, CTLA4, HRAS, HLA-DQB1, SPRY2, TSHB, TSHR, CD40, STAT3, HLA-DQA1, INS, TPO

1, 10, 11, 12, 13, 14, 15, 17, 19, 2, 20, 3, 5, 6, 7, 8, 9, X0
Immune diseasesYesN2.41259e-113.13396

CORNEAL DYSTROPHY, LATTICE TYPE I, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 20, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, IMMUNODEFICIENCY 15, SELECTIVE T-CELL DEFECT, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?IMMUNODEFICIENCY 39, DESMOID DISEASE, HEREDITARY, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, DYSTONIA-11, MYOCLONIC, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, FRONTOTEMPORAL DEMENTIA, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, ?PROGESTERONE RESISTANCE, ALPHA-2-MACROGLOBULIN DEFICIENCY, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, NEUTROPENIA, CYCLIC, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, BECKWITH-WIEDEMANN SYNDROME, INCONTINENTIA PIGMENTI, HYPERPROINSULINEMIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, C3 DEFICIENCY, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, EHLERS-DANLOS SYNDROME, TYPE 3, SYNDACTYLY, TYPE III, IMMUNODEFICIENCY 44, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, FAMILIAL COLORECTAL CANCER, OVARIAN HYPERSTIMULATION SYNDROME, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], BURKITT LYMPHOMA, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, HAY-WELLS SYNDROME, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, C8 DEFICIENCY, TYPE II, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, AGAMMAGLOBULINEMIA 1, BRACHYDACTYLY, TYPE A2, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, HEMOCHROMATOSIS TYPE 1, MYELOPEROXIDASE DEFICIENCY, SPLIT-HAND/FOOT MALFORMATION 4, GLAUCOMA 1A, PRIMARY OPEN ANGLE, IMAGE SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, METACHONDROMATOSIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, DYSTONIA-PARKINSONISM, X-LINKED, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, ?CARDIOMYOPATHY, DILATED, 2A, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, AGAMMAGLOBULINEMIA 3, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PICK DISEASE, [ECULIZUMAB, POOR RESPONSE TO], IMMUNODEFICIENCY 20, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, BLAU SYNDROME, MEIER-GORLIN SYNDROME 1, PYCNODYSOSTOSIS, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, CARDIOMYOPATHY, DILATED, 1NN, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, THYROID DYSHORMONOGENESIS 2A, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, IMMUNODEFICIENCY 19, ?SPINOCEREBELLAR ATAXIA 41, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MYOPATHY, TUBULAR AGGREGATE, 2, EPIDERMAL NEVUS, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, IMMUNODEFICIENCY 30, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ?IMMUNODEFICIENCY 25, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, ADRENAL CORTICAL CARCINOMA, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, ?IMMUNODEFICIENCY 22, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LOEYS-DIETZ SYNDROME 5, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CORNEAL DYSTROPHY, GROENOUW TYPE I, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, C1Q DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, IRIDOGONIODYSGENESIS, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, LYMPHEDEMA, HEREDITARY, ID, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, ADULT SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, OVARIAN RESPONSE TO FSH STIMULATION, FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, CAMURATI-ENGELMANN DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, C2 DEFICIENCY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ZIMMERMANN-LABAND SYNDROME 1, {HASHIMOTO THYROIDITIS}, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE, TYPE 4, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, DEAFNESS, AUTOSOMAL RECESSIVE 68, IMMUNODEFICIENCY 43, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CD8 DEFICIENCY, FAMILIAL, ESSENTIAL HYPERTENSION, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 2B, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, AXENFELD-RIEGER SYNDROME, TYPE 1, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, LIMB-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, C8 DEFICIENCY, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, COLE-CARPENTER SYNDROME 1, KAPPA LIGHT CHAIN DEFICIENCY, CORNELIA DE LANGE SYNDROME 3, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, BERGER DISEASE, NASU-HAKOLA DISEASE, IMMUNODEFICIENCY, COMMON VARIABLE, 2, PLASMA FIBRONECTIN DEFICIENCY, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AYME-GRIPP SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, KOSAKI OVERGROWTH SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, AGAMMAGLOBULINEMIA 4, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, CORNEAL DYSTROPHY, AVELLINO TYPE, MYHRE SYNDROME, MASP2 DEFICIENCY, RETINITIS PIGMENTOSA 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, SPERMATOGENIC FAILURE 8, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, RING DERMOID OF CORNEA, C4A DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, {CELIAC DISEASE, SUSCEPTIBILITY TO}, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, CEREBROCOSTOMANDIBULAR SYNDROME, ATELEIOTIC DWARFISM, ZIMMERMANN-LABAND SYNDROME 2, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, MALFORMATION OF THE HEART, [EOSINOPHIL PEROXIDASE DEFICIENCY], EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SUPRAVALVAR AORTIC STENOSIS, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, ACNE INVERSA, FAMILIAL, 3, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, PREMATURE OVARIAN FAILURE 7, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PITUITARY DEPENDENT HYPERCORTISOLISM, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, WAARDENBURG SYNDROME, TYPE 2A, WEAVER SYNDROME, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, THROMBOCYTHEMIA 3, CHOREA, HEREDITARY BENIGN, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, IMMUNODEFICIENCY 33, WHIM SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, CEREBRAL AMYLOID ANGIOPATHY, LI-FRAUMENI SYNDROME, AGAMMAGLOBULINEMIA 2, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLIOMA SUSCEPTIBILITY 1, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, LYMPHOPROLIFERATIVE SYNDROME 1, MACROCEPHALY/AUTISM SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, THYROID DYSHORMONOGENESIS 3, {LEPROSY, SUSCEPTIBILITY TO}, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, WRINKLY SKIN SYNDROME, CHOROID PLEXUS PAPILLOMA, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, ANGIOEDEMA, HEREDITARY, TYPES I AND II, BLEEDING DISORDER, PLATELET-TYPE, 11, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, LEUKOCYTE ADHESION DEFICIENCY, CATARACT 21, MULTIPLE TYPES, ?MYOPATHY, SCAPULOHUMEROPERONEAL, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, TIETZ ALBINISM-DEAFNESS SYNDROME, OMENN SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CARDIOMYOPATHY, HYPERTROPHIC, 7, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

270

CALM1, RPL5, MITF, TNNI3, CD3D, SMAD3, MYC, CST3, RAG1, FAS, PGK1, IKBKG, MS4A2, ATP6V1B1, IRF7, ALDOA, ATP6V1B2, GRIN2B, MPO, IGKC, PPARG, CD19, PRPF3, FCGR3A, CDH1, IL7R, BTK, CD3E, B2M, PGR, CDKN2A, IL10, CCL11, TG, IL21R, IL1B, MASP2, IGLL1, SMARCA4, HLA-DQA1, NFKBIA, PIK3CA, TGFBI, NOTCH1, PRF1, S1PR2, TYROBP, UNG, C1QC, TNFRSF11B, DRD2, SMAD4, TBK1, IGHM, TEK, POU1F1, GATA3, MAFB, IL2RG, CD81, PTEN, AICDA, SMARCB1, ACTA1, ACE, RASA1, ERBB2, TGFB2, XRCC4, MMP2, RUNX1, ICOS, CIITA, HLA-C, POMC, AR, FSHR, P4HB, CD79A, CD8A, PIK3R2, PFKM, DCLRE1C, C2, C5, TNF, MYD88, IL21, HLA-DRB1, GPI, NOD2, EPX, CD247, LEP, BMPR1A, PIK3CD, RFXAP, IFNG, CALR, ESR1, CBL, ORAI1, GNAI2, CCND1, PSEN1, MMP13, JAK2, C4A, TAP1, NKX2-1, SERPING1, GP6, EP300, VEGFC, HSPD1, RUNX2, TNFRSF1A, SPRY2, TSHR, TNFRSF11A, RAG2, TP63, RFXANK, VCP, NFKBIL1, TYK2, FOXO1, SMC3, PITX2, TPO, FCGR2A, TNFRSF13B, TCIRG1, C3, AGL, GJA1, IL2RA, BLNK, IGF1, CTSK, TAF1, IL12RB1, C1R, TSHB, CD40LG, TGFB3, IFNGR2, IGFBP7, MYOC, CTLA4, RORC, CD82, SNRPB, CREBBP, BMP2, FOXP3, EGFR, ITGB2, C1QA, FN1, CCND2, NGF, ELANE, PRKDC, IGF1R, TRPC3, C1QB, ATP6V0A2, FASLG, ATP5A1, TBX21, CD40, NOS2, EZH2, T, HLA-G, A2M, AKT1, CSNK1D, CDKN1C, ACTA2, RAF1, F13A1, CD59, IRF1, MAF, IRS2, ACVRL1, ACP5, STAT2, KAT5, LYZ, DYNC1H1, ZAP70, TLR2, SELP, AIRE, LCK, VDR, GRIN2A, IRS1, TNFSF11, IRF8, NR0B2, POLR3A, IL4R, IL17RA, TLR4, TRAC, KNG1, HNRNPA1, NR5A1, TGFB1, IGF2, PTPN11, CXCR4, TNFRSF13C, MUC1, CFTR, SPG7, IL12B, IRF3, STAT1, NFKB1, STAT3, ORC1, GATA5, RFX5, HLA-B, NOS3, PLG, SELE, NUP214, TP53, IL13, PDGFRB, ATM, PTPRC, ACTN4, C8B, IL6, CDKN1B, JAK3, DCN, LDHA, INS, PCNA, TRH, APP, ACTN1, APC, IFNGR1, HRAS, HLA-DQB1, CDK4, ACTN2, ITK, DNMT3B, ADA, SERPINF2, C8A, IKBKB, ALB, CR2, PIGR, TAP2, MMP1, CCL2, PEX5, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Neurodegenerative diseasesYesN1.16154e-062.89450

ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OTOPALATODIGITAL SYNDROME, TYPE II, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, {PARKINSON DISEASE 8}, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, C8 DEFICIENCY, TYPE II, IMMUNODEFICIENCY 38, CARDIOMYOPATHY, HYPERTROPHIC, 2, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, DYSTONIA-11, MYOCLONIC, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, HEMOCHROMATOSIS TYPE 1, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADAMS-OLIVER SYNDROME 5, COMBINED HYPERLIPIDEMIA, FAMILIAL, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, MICROVILLUS INCLUSION DISEASE, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, ?OPTIC ATROPHY 9, FAMILIAL COLORECTAL CANCER, GLAUCOMA 1A, PRIMARY OPEN ANGLE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LEBER OPTIC ATROPHY, BURKITT LYMPHOMA, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, PSEUDOHYPOPARATHYROIDISM IA, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, LOEYS-DIETZ SYNDROME 1, PARAGANGLIOMAS 3, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, LUSCAN-LUMISH SYNDROME, TIMOTHY SYNDROME, NOONAN SYNDROME 4, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, UV-SENSITIVE SYNDROME 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, KERATITIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, PARKINSON DISEASE 6, EARLY ONSET, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, LIPOPROTEIN LIPASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, DICARBOXYLIC AMINOACIDURIA, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?FIBROMATOSIS, GINGIVAL, 1, DYSTONIA-PARKINSONISM, X-LINKED, KARTAGENER SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, PICK DISEASE, XERODERMA PIGMENTOSUM, GROUP B, [ECULIZUMAB, POOR RESPONSE TO], CARDIOMYOPATHY, DILATED, 1V, HETEROTOPIA, PERIVENTRICULAR, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, ?MIRROR MOVEMENTS 3, ANEMIA, SIDEROBLASTIC, 4, COCKAYNE SYNDROME, TYPE A, GLUTAMINE DEFICIENCY, CONGENITAL, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ATELOSTEOGENESIS, TYPE I, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PARAGANGLIOMAS 5, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MACHADO-JOSEPH DISEASE, HYPOPHOSPHATASIA, INFANTILE, NEMALINE MYOPATHY 5, AMISH TYPE, CARCINOID TUMORS, INTESTINAL, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, ATAXIA-TELANGIECTASIA, CARDIOMYOPATHY, DILATED, 1NN, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ALAND ISLAND EYE DISEASE, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RETICULATE ACROPIGMENTATION OF KITAMURA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, ALZHEIMER DISEASE-2, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, IMMUNODEFICIENCY 19, ?SPINOCEREBELLAR ATAXIA 41, LONG QT SYNDROME 14, STRIATONIGRAL DEGENERATION, INFANTILE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SEGAWA SYNDROME, RECESSIVE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, COFFIN-LOWRY SYNDROME, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, EVEN-PLUS SYNDROME, CLEFT PALATE, ISOLATED, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ACNE INVERSA, FAMILIAL, 1, PARAGANGLIOMAS 4, PRIMARY LATERAL SCLEROSIS, JUVENILE, ADRENAL CORTICAL CARCINOMA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DYSTONIA 25, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE VII, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, COLOBOMA, OCULAR, SPINOCEREBELLAR ATAXIA 17, ALZHEIMER DISEASE, TYPE 4, MENTAL RETARDATION, X-LINKED 19, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, NESTOR-GUILLERMO PROGERIA SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, AORTIC ANEURYSM, FAMILIAL THORACIC 6, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, C1Q DEFICIENCY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HYPERPROINSULINEMIA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, DIABETES INSIPIDUS, NEPHROGENIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, HYPOBETALIPOPROTEINEMIA, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, XERODERMA PIGMENTOSUM, GROUP D, CARDIOMYOPATHY, DILATED, 1U, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACROKERATOSIS VERRUCIFORMIS, BRODY MYOPATHY, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, CAMURATI-ENGELMANN DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, MYOTUBULAR MYOPATHY, X-LINKED, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, AORTIC VALVE DISEASE 2, IMMUNODEFICIENCY 43, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CARDIOMYOPATHY, HYPERTROPHIC, 3, PRION DISEASE WITH PROTRACTED COURSE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SPINOCEREBELLAR ATAXIA 21, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PEROXISOME BIOGENESIS DISORDER 2B, BOOMERANG DYSPLASIA, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, FOVEAL HYPOPLASIA 1, PARKINSONISM-DYSTONIA, INFANTILE, PARKINSON DISEASE 1, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AURICULOCONDYLAR SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, OSSEOUS HETEROPLASIA, PROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {KURU, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, C8 DEFICIENCY, TYPE I, CONE-ROD DYSTROPHY, X-LINKED, 3, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, INSOMNIA, FATAL FAMILIAL, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, TANGIER DISEASE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, ALAGILLE SYNDROME 2, PITUITARY ADENOMA, PROLACTIN-SECRETING, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MYOGLOBINURIA, RECURRENT, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, ?CATARACT 30, PULVERULENT, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, INFANTILE CEREBELLAR-RETINAL DEGENERATION, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, CONGENITAL DISORDER OF DEGLYCOSYLATION, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, PARKINSON DISEASE, JUVENILE, TYPE 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ACHROMATOPSIA 7, PAPILLORENAL SYNDROME, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, FRASER SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, HYPOPHOSPHATASIA, CHILDHOOD, HEPATIC LIPASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, SHORT SYNDROME, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, GLUCOCORTICOID RESISTANCE, CARDIOFACIOCUTANEOUS SYNDROME, GILLESPIE SYNDROME, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, ACNE INVERSA, FAMILIAL, 2, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, SUPRAVALVAR AORTIC STENOSIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AURICULOCONDYLAR SYNDROME 3, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RUBINSTEIN-TAYBI SYNDROME, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ACNE INVERSA, FAMILIAL, 3, ONCOCYTOMA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEBER OPTIC ATROPHY AND DYSTONIA, HUNTINGTON DISEASE, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, PERRY SYNDROME, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, FEINGOLD SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, NEPHROTIC SYNDROME, TYPE 8, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, BRACHYDACTYLY, TYPE E2, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BJORNSTAD SYNDROME, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, HUNTINGTON DISEASE-LIKE 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLIOMA SUSCEPTIBILITY 1, HYPOSPADIAS 1, X-LINKED, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, OPTIC NERVE HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, DARIER DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, {PARKINSON DISEASE 18}, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, GLAUCOMA 1, OPEN ANGLE, E, GLYCOGEN STORAGE DISEASE XI, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, ANDROGEN INSENSITIVITY, ?SPERMATOGENIC FAILURE 13, WOLCOTT-RALLISON SYNDROME, ALEXANDER DISEASE, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CILIARY DYSKINESIA, PRIMARY, 16, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, THROMBOCYTOPENIA 4, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, MENTAL RETARDATION, X-LINKED 90, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SPINOCEREBELLAR ATAXIA 42, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, SMITH-KINGSMORE SYNDROME, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ATELOSTEOGENESIS, TYPE III, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

309

CALM1, SOD1, HIP1, SEC23A, PARK7, NFKB1, DNAH11, CDK5, APOE, MYC, PRPH, ADRB2, PRKACA, TPM1, NDUFA11, GNAS, NDUFA9, MYD88, CYCS, COL3A1, MAPT, ATP6V1B1, ACTN2, F2, NDUFA1, AGT, HAX1, PPARG, COX6A1, SLC6A3, RANBP2, WNK1, DNAH14, DNAH5, CDH1, NDUFS4, APOB, TAF4B, SOS1, UBB, ITGA2, LIPE, PSTPIP1, RAB7A, SDHC, VIM, EPS8, NDUFB11, CXCR4, NGLY1, DNM2, SPAST, MT-CO3, NDUFV2, AR, ERCC2, TGFBR2, RBPJ, EMD, C1QC, DNAI2, HSD17B10, CREBBP, ARHGDIA, NDUFB9, MAFB, CTNNB1, SF3B4, COX8A, PCNA, VLDLR, SDHD, GRIP1, DRD2, ERBB3, PAX6, COX4I2, FAS, CD3D, NDUFS6, CALCR, NME1, ACTN1, NOTCH2, CYP1B1, GLUL, COX6B1, SNCAIP, C5, NDUFA12, FANCC, RYR1, PRKACG, MT-ND6, LEP, BCAP31, HNRNPK, ABCA1, CACNA1F, EIF4G1, CALR, NCSTN, GNAI2, CCND1, PSEN1, DNAL4, IL6, NFKBIA, MT-ND2, TNNT1, HTT, LIPC, GPX4, TGFBR1, ITPR1, NDUFS2, PRKG1, VCP, UCP1, MT-ND3, TNFRSF1A, MT-CYB, UQCRQ, CASR, TSHR, TNNT2, GPD1, DNAL1, HCFC1, GRIN2A, BDNF, WAS, NUP62, ADCY5, NDUFA10, NOTCH1, INS, PSENEN, IGF1, GFAP, MT-CO1, EEF1A2, SPRY2, MT-ATP6, EDN1, BANF1, UCHL1, ALPL, CACNA1G, GNAI3, NDUFB3, NDUFS3, DNAH8, EP300, SMAD4, ERCC3, SETD2, LRRK2, LDHA, MYCN, DNAI1, ALS2, NOS2, TAF1, PAX2, STAT1, PSEN2, FLNA, SYN1, PEX5, CTDP1, NDUFS7, MYO5B, CYC1, BCS1L, CASQ2, GRIN2B, BMP2, RDX, POLR2F, MTOR, PTHLH, C1QA, FN1, AKAP9, GNAQ, ITPR2, AIP, NDUFS1, FOXO1, UBA1, CFTR, PARK2, RUNX1, C1QB, EGFR, ATP5A1, TUFM, SLC25A4, HOXA11, MT-ND1, CD40, DCTN1, MAP2K2, LRPAP1, AVPR2, ATXN3, TP53, KIF11, CCL2, ISG15, DNAH1, IL1B, ACTA2, HSPA9, EFNB1, PLCB4, PTEN, ITPR3, POMC, TH, ADA, DDOST, AXIN1, KAT5, RUNX2, SCYL1, COX7B, NDUFV1, PFKM, RAF1, BARD1, MT-ND4, DLG3, SDHA, SMAD3, NGF, GNAO1, B2M, PINK1, CD59, NR3C1, HSD17B4, ADAM10, PRKCD, AKT1, TGFB1, PRNP, PIK3CD, LPL, RPS6KA3, GNAL, TBP, DDX58, EIF2AK3, ATF6, IRF3, PLCB1, GLUD1, MT-CO2, CACNA1C, SERPINE1, GPX1, PLG, FADD, UQCRC2, UQCRB, NDUFA2, ATM, TRPC3, ACTN4, C8B, BAX, RB1, SLC1A1, NDUFS8, ATP2A1, DCN, CACNA1S, MYOC, MT-ND5, NEFL, APP, CABP4, MEF2A, MT-ND4L, NEFH, HRAS, ERCC8, ACO2, AP2S1, SNCA, LRP1, NOS3, SMAD6, POLR3B, C8A, SPTAN1, ATP2A2, ADAM17, TNF, SDHB, CASP8, MC4R, PDE4D, TUBB3, FLNB, CACNA1D, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Porphyrin and chlorophyll metabolismNoN0.02007096.7747

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, LEUKODYSTROPHY, HYPOMYELINATING, 4, GLIOMA SUSCEPTIBILITY 1, EVEN-PLUS SYNDROME, ANEMIA, SIDEROBLASTIC, 4, MYOPATHY DUE TO CPT II DEFICIENCY, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, CRIGLER-NAJJAR SYNDROME, TYPE I, HYPERPROINSULINEMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CPT DEFICIENCY, HEPATIC, TYPE II, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, HEMOCHROMATOSIS, TYPE 4, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, [BILIRUBIN, SERUM LEVEL OF, QTL1], ANEMIA, SIDEROBLASTIC, 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, NON-IMMUNE HYDROPS FETALIS, METHYLMALONIC ACIDURIA CBLB TYPE, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, ADAMS-OLIVER SYNDROME 3, MUCOPOLYSACCHARIDOSIS VII, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, COPROPORPHYRIA, HARDEROPORPHYRIA, CRIGLER-NAJJAR SYNDROME, TYPE II, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HYPERBILIVERDINEMIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, [GILBERT SYNDROME], CPT II DEFICIENCY, LETHAL NEONATAL, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 16, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}

29

UROD, SLC40A1, CP, HCCS, CPT2, CPOX, GUSB, PPARG, FXN, BLVRA, ALAD, COX10, MRPL3, PPOX, EARS2, ABCB7, HMBS, UGT1A1, COX15, MMAB, FECH, HSPD1, UROS, UGT1A4, HSPA9, ALAS2, ALB, INS, RBPJ

1, 10, 11, 12, 16, 17, 18, 2, 3, 4, 5, 7, 9, X0
Cancers: Specific typesYesN4.57928e-202.83644

MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPERFERRITINEMIA-CATARACT SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, IMMUNODEFICIENCY 38, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?IMMUNODEFICIENCY 39, DESMOID DISEASE, HEREDITARY, RETINITIS PIGMENTOSA, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, CATSHL SYNDROME, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, THROMBOCYTOPENIA 5, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?PROGESTERONE RESISTANCE, MULTIPLE SYNOSTOSES SYNDROME 1, ?RETINAL ARTERIES, TORTUOSITY OF, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, ALPHA-2-MACROGLOBULIN DEFICIENCY, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, VAN BUCHEM DISEASE, TYPE 2, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, FUHRMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LEPRECHAUNISM, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 8, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, CATARACT 16, MULTIPLE TYPES, SYNDACTYLY, TYPE III, NAXOS DISEASE, BENIGN FAMILIAL HEMATURIA, SPLIT-HAND/FOOT MALFORMATION 6, FAMILIAL COLORECTAL CANCER, MELNICK-FRASER SYNDROME, PIERSON SYNDROME, EPIDERMOLYSIS BULLOSA, PRETIBIAL, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, CARDIOMYOPATHY, HYPERTROPHIC, 4, BURKITT LYMPHOMA, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ?TETRA-AMELIA SYNDROME, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, BRACHYDACTYLY, TYPE A1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, CULLER-JONES SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, BRACHYDACTYLY, TYPE E2, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), ?WEBB-DATTANI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ATRIAL SEPTAL DEFECT 2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, AVASCULAR NECROSIS OF THE FEMORAL HEAD, KERATITIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, POROKERATOSIS 3, MULTIPLE TYPES, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, GLAUCOMA 1A, PRIMARY OPEN ANGLE, EXUDATIVE VITREORETINOPATHY 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, TOOTH AGENESIS, SELECTIVE, 1, WITH OR WITHOUT OROFACIAL CLEFT, CARDIOMYOPATHY, DILATED, 1A, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, DEAFNESS, X-LINKED 5, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, RETINITIS PIGMENTOSA 38, CARNEY COMPLEX, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 39, SPLIT-HAND/FOOT MALFORMATION 1, NOONAN SYNDROME 7, CROUZON SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, OSTEOGENESIS IMPERFECTA, TYPE XV, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, X-LINKED 30/47, PICK DISEASE, HOLOPROSENCEPHALY-5, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, BRACHYDACTYLY, TYPE A2, HETEROTOPIA, PERIVENTRICULAR, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, CORTICAL MALFORMATIONS, OCCIPITAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?FIBROMATOSIS, GINGIVAL, 1, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ATELOSTEOGENESIS, TYPE I, MUIR-TORRE SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, NIJMEGEN BREAKAGE SYNDROME, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, EPIDERMOLYSIS BULLOSA PRURIGINOSA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WEAVER SYNDROME, SPINOCEREBELLAR ATAXIA 14, MACHADO-JOSEPH DISEASE, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], LISSENCEPHALY 5, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, TOOTH AGENESIS, SELECTIVE, 7, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PULMONARY HYPERTENSION, PRIMARY, 2, MYXOMA, INTRACARDIAC, CLEFT PALATE, ISOLATED, POLYDACTYLY, PREAXIAL, TYPE IV, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIOMYOPATHY, DILATED, 1NN, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, HOLOPROSENCEPHALY-9, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, TOOTH AGENESIS, SELECTIVE, 4, HEMOCHROMATOSIS, TYPE 2B, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, NOONAN SYNDROME 9, RENAL TUBULAR DYSGENESIS, DENYS-DRASH SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, LONG QT SYNDROME 14, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, TARSAL-CARPAL COALITION SYNDROME, DYSTONIA 9, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, CORNEAL DYSTROPHY, AVELLINO TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, METACARPAL 4-5 FUSION, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, HARTSFIELD SYNDROME, KNOBLOCH SYNDROME 1, [BONE MINERAL DENSITY VARIABILITY 1], TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CATARACT 5, MULTIPLE TYPES, VENTRICULAR SEPTAL DEFECT 3, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, ?OSTEOGENESIS IMPERFECTA, TYPE XII, LEIOMYOMATOSIS AND RENAL CELL CANCER, SPINOCEREBELLAR ATAXIA 1, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ADRENAL CORTICAL CARCINOMA, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, SPINOCEREBELLAR ATAXIA 27, SPONDYLOPERIPHERAL DYSPLASIA, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, CORNEAL DYSTROPHY, GROENOUW TYPE I, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ALAGILLE SYNDROME, OROFACIAL CLEFT 11, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, PNEUMOTHORAX, PRIMARY SPONTANEOUS, COLOBOMA, OCULAR, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, BRANCHIOOTIC SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, INCONTINENTIA PIGMENTI, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, BRACHYDACTYLY, TYPE B2, EPITHELIAL RECURRENT EROSION DYSTROPHY, HYPERPROINSULINEMIA, ERYTHROCYTOSIS, FAMILIAL, 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, BOOMERANG DYSPLASIA, PIEBALDISM, IRIDOGONIODYSGENESIS, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, LYMPHEDEMA, HEREDITARY, ID, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, ?PARKINSONISM WITH SPASTICITY, X-LINKED, HYPOBETALIPOPROTEINEMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ERYTHROCYTOSIS, FAMILIAL, 3, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, ?GLYCOPROTEIN IA DEFICIENCY, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, BASAL CELL NEVUS SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, LYMPHEDEMA, HEREDITARY, IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HETEROTAXY, VISCERAL, 5, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, FECHTNER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, PORETTI-BOLTSHAUSER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, CONGENITAL DIAPHRAGMATIC HERNIA, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 2, ALZHEIMER DISEASE, TYPE 4, AORTIC VALVE DISEASE 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, SADDAN, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, HOLOPROSENCEPHALY-3, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPLENIC HYPOPLASIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, EBD, BART TYPE, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 2, GLIOMA SUSCEPTIBILITY 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MIRROR MOVEMENTS 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HYPOPHOSPHATEMIC RICKETS, AR, {GLIOBLASTOMA 3}, AXENFELD-RIEGER SYNDROME, TYPE 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, LISSENCEPHALY 3, SERKAL SYNDROME, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, POLYCYTHEMIA VERA, SOMATIC, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, LOEYS-DIETZ SYNDROME 5, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, OCULOECTODERMAL SYNDROME, INFANTILE MYOFIBROMATOSIS 1, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, DEAFNESS, AUTOSOMAL RECESSIVE 35, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SMALL CELL CANCER OF THE LUNG, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, MIRROR MOVEMENTS 1, ODONTOONYCHODERMAL DYSPLASIA, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, CORNELIA DE LANGE SYNDROME 1, HOLOPROSENCEPHALY-7, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, HYPOPLASTIC LEFT HEART SYNDROME 1, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, 46XY SEX REVERSAL 6, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, MAY-HEGGLIN ANOMALY, 46,XX SEX REVERSAL, TYPE 2, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, SMED STRUDWICK TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, PORENCEPHALY 2, NEPHROTIC SYNDROME, TYPE 4, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 37, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, PALLISTER-HALL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, SPERMATOGENIC FAILURE 8, APERT SYNDROME, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, RING DERMOID OF CORNEA, MASA SYNDROME, CRASH SYNDROME, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PREMATURE AGING SYNDROME, PENTTINEN TYPE, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, BRACHYDACTYLY, TYPE B1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, THANATOPHORIC DYSPLASIA, TYPE II, HYPERPARATHYROIDISM 1, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MULTIPLE SULFATASE DEFICIENCY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CZECH DYSPLASIA, IMMUNODEFICIENCY 21, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, VENTRICULAR SEPTAL DEFECT 1, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, CARDIOMYOPATHY, DILATED, 1JJ, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, GILLESPIE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SUPRAVALVAR AORTIC STENOSIS, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, APLASIA OF LACRIMAL AND SALIVARY GLANDS, ACNE INVERSA, FAMILIAL, 3, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, TRIGONOCEPHALY 1, ?OTOFACIOCERVICAL SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, BIRT-HOGG-DUBE SYNDROME, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, OCULODENTODIGITAL DYSPLASIA, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PREMATURE OVARIAN FAILURE 7, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, AMELOGENESIS IMPERFECTA, TYPE IA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, COWCHOCK SYNDROME, NEUTROPENIA, CYCLIC, ATRIOVENTRICULAR SEPTAL DEFECT 4, MULTIPLE ENDOCRINE NEOPLASIA IIA, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, LYNCH SYNDROME I, JACKSON-WEISS SYNDROME, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, STICKLER SYNDROME, TYPE I, WAARDENBURG SYNDROME, TYPE 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, SCHOPF-SCHULZ-PASSARGE SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, FUMARASE DEFICIENCY, ?DEAFNESS, X-LINKED 6, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, THROMBOCYTHEMIA 3, MENTAL RETARDATION, X-LINKED 46, CHOREA, HEREDITARY BENIGN, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, GLYCINE ENCEPHALOPATHY, IMMUNODEFICIENCY 33, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, OPTIC NERVE HYPOPLASIA, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, {LEPROSY, SUSCEPTIBILITY TO}, EXUDATIVE VITREORETINOPATHY 4, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WAGNER SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 5, BLEEDING DISORDER, PLATELET-TYPE, 11, PANCREATIC CANCER/MELANOMA SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ANDROGEN INSENSITIVITY, LEUKOCYTE ADHESION DEFICIENCY, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, PAGET DISEASE OF BONE 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LARYNGOONYCHOCUTANEOUS SYNDROME, THROMBOCYTOPENIA 4, NEPHROTIC SYNDROME, TYPE 12, TIETZ ALBINISM-DEAFNESS SYNDROME, MAST CELL DISEASE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, COFFIN-LOWRY SYNDROME, KABUKI SYNDROME 1, NEPHROTIC SYNDROME, TYPE 6, CARDIOMYOPATHY, DILATED, 1II, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, ATELOSTEOGENESIS, TYPE III, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

363

CALM1, TSC2, HGF, LAMB1, PLOD3, SLC34A1, FTL, MSH6, KRIT1, PTPRO, PGR, NOG, ITGA3, FH, MERTK, VCAN, GFI1B, ATN1, CREBBP, RAF1, RASA1, SOX2, AXIN2, ISG15, SQSTM1, DAG1, CENPF, MTOR, LAMA1, HMGA1, LEP, PIK3CD, AIFM1, CBL, CCND1, JAK2, NKX2-1, JUP, MIB1, ITPR1, VEGFC, HSPD1, ROR2, T, DUSP6, GP6, CTNNB1, SUFU, SMAD4, DVL3, ETV6, GDNF, CD40LG, HDAC6, SLC2A1, LAMA3, PITX2, GLDC, PPP2R1A, ARHGEF6, AKT1, AXIN1, AQP5, EZH2, GLI3, A2M, CSNK1D, IL1B, DMP1, HAMP, SART3, LRP5, TNFRSF11A, AURKA, HNRNPK, TUBG1, LAMC2, PIK3R2, LAMA2, PTPN11, CXCR4, GATA4, STAT3, NR4A2, FLT3, WNT10A, PDGFRB, COL4A3, PAK3, SMAD6, CD36, LRP2, ATXN3, ALB, WNT10B, CTNNA1, APOB, MMP1, HSF4, PSEN1, GFAP, ITGA2B, KMT2A, WT1, COL4A5, SPTAN1, CYCS, TGFBI, ARHGDIA, MITF, TGFBR2, SOX9, TGFB2, MMP2, MAP2K2, FGF9, SP7, ACTN1, NOTCH1, MYCN, NPM1, FGFR1, SCARB2, FZD4, RASSF1, PTH, COL4A6, MEN1, PRKG1, RB1, FGF23, FGF5, RARB, BRAF, SOS2, COL18A1, MYOC, IGF1, FLT4, SMAD9, MYBPC3, NEUROD1, MCPH1, COL4A4, BMP2, VDR, DVL1, ATXN1, ERBB3, TP53, EGFR, IKBKB, SNCA, PRKCG, ERBB4, ESRRB, ITGA6, KIT, BCR, AR, DYRK1A, NODAL, PTS, PAX3, NR5A1, NTRK1, TYMP, MPDZ, KMT2D, SRD5A2, APPL1, MAP3K1, PLG, DNMT1, ACTN4, IL6, CRYAB, PCNA, APC, FLNB, SMAD3, HSPG2, ESR1, SERPINE1, DYRK1B, F2, CDK6, IKBKG, GFI1, MSX1, PLCD1, AP2S1, AGT, CDK5, CDH1, WNT5A, ZEB2, FRZB, FGF17, EGLN1, FGF3, LAMB2, FGFR4, COL10A1, PIK3CA, JAG1, COL2A1, GLI2, ARNT2, ACTA1, VRK1, SMARCA4, RUNX1, CASP8, NOS3, TNF, GATA2, EDA, MMP13, COL1A2, ITGA2, PER2, MET, NFKBIA, CD44, FOXO1, TLR2, TNFRSF1A, SPRY2, PTPN1, GSC, BIN1, RPS6KA3, TFG, INS, COL7A1, ITGB3, PAX2, TJP2, TGFB1, VHL, COL4A1, BRCA1, ITGB2, PTHLH, FN1, FZD6, AKT2, IHH, LAMC3, CDK4, MYC, PTEN, FGFR3, PIK3R5, NRAS, IRS1, FGF14, PRKCD, EPHB2, TLR4, CSF1R, WNT3, TBP, MYH9, FGF10, ITGB4, SOS1, FGF16, BAX, ATP6AP2, FTH1, APP, HRAS, IRS2, ACTN2, TUFM, PDGFB, BRCA2, COL1A1, MYD88, MLH1, NBN, IRF7, PPARG, OTX2, PRKAR1A, EDN1, CDKN2A, GABBR2, BMP4, COL4A2, WNT4, CD40, ERBB2, PTCH1, WNT7A, KRAS, PAX6, FLCN, TCF7L2, LRP1, TPM3, LHX3, PTCH2, CDKN1B, MECOM, STAT1, PDGFRA, TGFBR1, EP300, RAD51, CEBPA, MAX, MYO6, ZBTB16, EYA1, HCFC1, LRP6, PAX8, GJA1, ZIC2, COL17A1, TGFB3, LAMB3, LAMA4, CCND2, ELANE, PRKDC, IGF1R, TUBA1A, NUP93, MUSK, NKX2-5, DLX5, RUNX2, SUMF1, FLNA, NGF, COL25A1, NOS2, NFKB1, PRKACA, GATA5, INSR, AKT3, MSH2, FGFR2, PLCG2, CTNNA3, WNT1, L1CAM, RET, TBX6, FGF20, DCC, FASLG, DNMT3B, NR0B2, PIK3R1, KDR, PORCN, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Endocrine and metabolic diseasesYesN4.18001e-123.4363

L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, KERATITIS, IMMUNODEFICIENCY 15, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, SELECTIVE T-CELL DEFECT, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, FRONTOTEMPORAL DEMENTIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?PROGESTERONE RESISTANCE, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, MACULAR DYSTROPHY, RETINAL, 2, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, ATRIAL SEPTAL DEFECT 8, HYPERPROINSULINEMIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, ?OPTIC ATROPHY 9, CATARACT 16, MULTIPLE TYPES, SYNDACTYLY, TYPE III, IMMUNODEFICIENCY 44, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, FANCONI-BICKEL SYNDROME, FAMILIAL COLORECTAL CANCER, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LEBER OPTIC ATROPHY, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, MYOPATHY, MYOFIBRILLAR, 5, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, WAARDENBURG SYNDROME, TYPE 4C, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, EMBERGER SYNDROME, CULLER-JONES SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, UV-SENSITIVE SYNDROME 2, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MODY, TYPE III, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, DEAFNESS, AUTOSOMAL DOMINANT 17, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, FRONTONASAL DYSPLASIA 2, TUBEROUS SCLEROSIS-1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ?DYSTONIA 23, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, HMG-COA SYNTHASE-2 DEFICIENCY, METACHONDROMATOSIS, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, COENZYME Q10 DEFICIENCY, PRIMARY, 3, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, ?CARDIOMYOPATHY, DILATED, 2A, DEAFNESS, AUTOSOMAL RECESSIVE 39, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CURRARINO SYNDROME, PICK DISEASE, LEOPARD SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, COCKAYNE SYNDROME, TYPE A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PARAGANGLIOMAS 5, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HEPATIC ADENOMA, SOMATIC, CARCINOID TUMORS, INTESTINAL, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, RENAL CYSTS AND DIABETES SYNDROME, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, HEMOCHROMATOSIS, TYPE 2B, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, SEBASTIAN SYNDROME, AMYLOIDOSIS, FINNISH TYPE, OPSISMODYSPLASIA, MALFORMATION OF THE HEART, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, IMMUNODEFICIENCY 35, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SEGAWA SYNDROME, RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ?INFANTILE LIVER FAILURE SYNDROME 1, MODY, TYPE II, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, COMMON VARIABLE IMMUNODEFICIENCY 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ADRENAL CORTICAL CARCINOMA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, OROFACIAL CLEFT 11, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 22, COLOBOMA, OCULAR, SPINOCEREBELLAR ATAXIA 17, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, ALZHEIMER DISEASE, TYPE 4, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, RIPPLING MUSCLE DISEASE, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, CARDIOMYOPATHY, DILATED, 1U, BRODY MYOPATHY, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, PEUTZ-JEGHERS SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, FECHTNER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PARIETAL FORAMINA 2, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, IMMUNODEFICIENCY 43, PCWH SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, LEPRECHAUNISM, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, FOVEAL HYPOPLASIA 1, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LISSENCEPHALY 3, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SMALL CELL CANCER OF THE LUNG, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, TANGIER DISEASE, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MYOGLOBINURIA, RECURRENT, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, MAY-HEGGLIN ANOMALY, INFANTILE CEREBELLAR-RETINAL DEGENERATION, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MYHRE SYNDROME, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME 2, PARAGANGLIOMAS 4, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, RETINITIS PIGMENTOSA 41, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, WOLFF-PARKINSON-WHITE SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HYPERPARATHYROIDISM 1, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, PARAGANGLIOMAS 3, IMMUNODEFICIENCY 21, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ?IMMUNODEFICIENCY 37, CONE-ROD DYSTROPHY 2, GLUCOCORTICOID RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, GILLESPIE SYNDROME, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SUPRAVALVAR AORTIC STENOSIS, EPISODIC ATAXIA, TYPE 2, ACNE INVERSA, FAMILIAL, 3, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEBER OPTIC ATROPHY AND DYSTONIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, MODY, TYPE I, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, OCULODENTODIGITAL DYSPLASIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, HYPERFERRITINEMIA-CATARACT SYNDROME, PYRUVATE KINASE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ADAMS-OLIVER SYNDROME 3, KERATOSIS, SEBORRHEIC, SOMATIC, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, SPINOCEREBELLAR ATAXIA 6, MYOPATHY, DISTAL, TATEYAMA TYPE, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BJORNSTAD SYNDROME, PANCREATIC AGENESIS 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, HOLOPROSENCEPHALY-9, LI-FRAUMENI SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, OPTIC NERVE HYPOPLASIA, MACROCEPHALY/AUTISM SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {LEPROSY, SUSCEPTIBILITY TO}, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, CHOROID PLEXUS PAPILLOMA, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, GLYCOGEN STORAGE DISEASE XI, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, VENTRICULAR SEPTAL DEFECT 2, ANDROGEN INSENSITIVITY, WOLCOTT-RALLISON SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, THROMBOCYTOPENIA 4, HEMOCHROMATOSIS TYPE 1, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LIPOID ADRENAL HYPERPLASIA, SPINOCEREBELLAR ATAXIA 42, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, SMITH-KINGSMORE SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 7, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

235

CALM1, NDUFS8, F2, TNNI3, KMT2A, CDK5, HSPB1, LARS, MYC, PRKACA, TPM1, NDUFA11, MT-CO3, PSEN1, ANK2, RPL5, FTL, KCNJ11, NDUFA1, AGT, PPARG, CTNNB1, COX6A1, CACNA1G, OTX2, ERCC8, SLC2A2, SOX10, B2M, STK11, SLC2A4, IL10, RANBP2, BMP4, CASP8, NDUFB11, COX8A, SEC23A, HLA-DQA1, CACNA1B, NEUROG3, PRF1, CYCS, TGFBR2, ERBB2, MT-ND3, CREBBP, CYC1, PRKAG2, UQCRB, MT-ND2, RBPJ, GLI2, HMGCS2, ACTA1, ALX4, SOX9, SDHD, SMARCA4, TP53, CBL, TUBA1A, HLA-C, PIK3R5, AR, SP7, IL12B, NOS3, PIK3CD, ATP2A1, COX6B1, BAX, NDUFA12, TNF, CACNA1D, EDNRA, SDHC, SDHB, LEP, PIK3CA, AKT2, DDOST, ABCA1, STAR, CALR, GJA1, MAFB, CCND1, IFNG, HLA-DRB1, VPS33B, NR2F1, CRYAB, MEN1, EP300, NDUFS2, FOXO1, CACNA1A, UMOD, TNFRSF1A, MT-CYB, UQCRQ, TSHR, GSC, PCBD1, ADRB3, STAT3, AIRE, NDUFA10, MAPK8IP1, INS, ABCC8, NDUFS7, MT-CO1, CEBPA, ACO2, CAV3, IRF1, LYZ, AGL, NDUFB3, APPL1, GABBR2, IGF1, HNF4A, LDHA, CD40, NEUROD1, PROM1, SYN1, NDUFS4, ICOS, HSPD1, GCK, MYH6, BCS1L, POMC, HNF1B, HRAS, EGFR, MTOR, AKT1, SMARCB1, TRAC, VDR, NDUFS1, IGF1R, PDSS2, MNX1, HLA-DQB1, NDUFS6, IKBKB, PAX6, HGF, SPRY2, HLA-G, SNCA, CITED2, IL1B, HNF1A, GAD1, HK1, PTEN, PTPRJ, HAMP, TH, GSN, IRS2, STAT2, RYR2, ITGA6, TLR2, ITCH, NDUFV1, LCK, NDUFS3, IRS1, NR0B2, NGF, PRKCD, STUB1, PGR, INPPL1, NOTCH1, FLNC, PIK3R2, BCL10, SDHA, PTPN11, NDUFA9, SMAD4, TBP, MYH9, TGFB1, IRF3, NFKB1, ESR1, MT-CO2, CACNA1C, INSR, HLA-B, PKLR, AKT3, NDUFV2, UQCRC2, NDUFB9, NDUFA2, TYK2, IL6, T, RB1, SP110, COX4I2, PCSK9, PCNA, APP, GHRL, PMPCA, FASLG, CD82, ACTN2, EIF2AK3, GNRH1, PDX1, COX7B, ZAP70, NR3C1, SELP, TSC1, PAX4, FAS, JAK2, SERPINE1, GATA2, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Gap junctionYesN4.01136e-065.13174

CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?FIBROMATOSIS, GINGIVAL, 1, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, DEAFNESS, DIGENIC GJB2/GJB6, DEAFNESS, AUTOSOMAL RECESSIVE 1A, DEAFNESS, DIGENIC, GJB2/GJB3, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ENDOCRINE-CEREBROOSTEODYSPLASIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, PARKINSON DISEASE 1, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, SPINOCEREBELLAR ATAXIA 14, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SUPRAVALVAR AORTIC STENOSIS, FRONTOMETAPHYSEAL DYSPLASIA, AURICULOCONDYLAR SYNDROME 3, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, PSEUDOHYPOPARATHYROIDISM IA, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, ATRIOVENTRICULAR SEPTAL DEFECT 3, LEUKODYSTROPHY, HYPOMYELINATING, 11, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MOYAMOYA 6 WITH ACHALASIA, ATRIAL FIBRILLATION, FAMILIAL, 11, OCULODENTODIGITAL DYSPLASIA, RIPPLING MUSCLE DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 15, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?SPINOCEREBELLAR ATAXIA 41, HYPOPLASTIC LEFT HEART SYNDROME 1, AORTIC ANEURYSM, FAMILIAL THORACIC 8, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, PITUITARY DEPENDENT HYPERCORTISOLISM, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, SYNDACTYLY, TYPE III, OOCYTE MATURATION DEFECT 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, LONG QT SYNDROME 14, AURICULOCONDYLAR SYNDROME 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, OSSEOUS HETEROPLASIA, PROGRESSIVE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, MYOPATHY, DISTAL, TATEYAMA TYPE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SEGAWA SYNDROME, RECESSIVE, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, LISSENCEPHALY 3, IMMUNODEFICIENCY 36, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HETEROTOPIA, PERIVENTRICULAR, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, OCULOECTODERMAL SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LI-FRAUMENI SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), CARDIOMYOPATHY, DILATED, 1NN, ALCOHOL DEPENDENCE, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, AURICULOCONDYLAR SYNDROME 1, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, LEUKODYSTROPHY, HYPOMYELINATING, 6, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ADRENAL CORTICAL CARCINOMA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, PARKINSON DISEASE 4, INFANTILE MYOFIBROMATOSIS 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, KOSAKI OVERGROWTH SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, HYPERPROINSULINEMIA, DEAFNESS, AUTOSOMAL RECESSIVE 1B, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, 46,XX SEX REVERSAL, TYPE 2, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, DEAFNESS, AUTOSOMAL DOMINANT 3B, TREACHER COLLINS SYNDROME 3, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, XERODERMA PIGMENTOSUM, GROUP B, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, DEJERINE-SOTTAS DISEASE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, SMITH-KINGSMORE SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

82

TUBA8, CALM1, SOX9, TUBB2A, POLR1C, GJB6, TUBB2B, PLCB1, DRD2, TRPC3, CAV3, MAP2K2, ICK, ADRB2, HTR2A, DVL3, GNA11, GNAS, KRAS, TGFB1, PRKG1, SOS2, ERCC3, F2, CASR, GRIN2B, MYD88, GJA1, NFKB1, GNAI3, PRKACG, TUBA4A, POMC, TUBB, GJA5, GUCY1A3, FLNA, MTOR, GRM1, EDN1, SLC9A3R1, TUBB3, KCNMA1, AXIN1, CBL, SLC9A3, CFTR, PTH, GNAQ, TP53, PDGFRA, TUBB4A, TUBB8, CSNK1D, TUBA1A, APP, ITPR1, TUBB1, FOXO1, SOS1, HRAS, EGFR, ADCY1, SNCA, PRKCG, PRKACA, PLCB4, PDGFRB, ITPR3, ADCY6, NRAS, TH, RPS6KA3, STAT3, ITPR2, ADCY5, PDGFB, GNAI2, INS, GJB1, RAF1, PIK3R1

1, 10, 11, 12, 13, 14, 16, 17, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 9, X0
Cardiovascular diseasesYesN3.22093e-243.86391

CORNEAL DYSTROPHY, LATTICE TYPE I, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OTOPALATODIGITAL SYNDROME, TYPE II, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CARDIOMYOPATHY, HYPERTROPHIC, 2, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, DYSTONIA-11, MYOCLONIC, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, FRONTOTEMPORAL DEMENTIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?PROGESTERONE RESISTANCE, ALPHA-2-MACROGLOBULIN DEFICIENCY, MANDIBULOACRAL DYSPLASIA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ATRIOVENTRICULAR SEPTAL DEFECT 3, PSEUDOHYPOPARATHYROIDISM IC, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, CARDIOMYOPATHY, DILATED, 3B, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 18, GILLESPIE SYNDROME, ?GLYCOPROTEIN IA DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, CATARACT 16, MULTIPLE TYPES, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, NAXOS DISEASE, FAMILIAL COLORECTAL CANCER, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], CARDIOMYOPATHY, HYPERTROPHIC, 4, BURKITT LYMPHOMA, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, MYOPATHY, MYOFIBRILLAR, 5, HAY-WELLS SYNDROME, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, TIMOTHY SYNDROME, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, BRACHYDACTYLY, TYPE E2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, BRACHYDACTYLY, TYPE A2, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, KERATITIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, GLAUCOMA 1A, PRIMARY OPEN ANGLE, CARDIOMYOPATHY, DILATED, 1A, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, ?DYSTONIA 23, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, DILATED CARDIOMYOPATHY 1DD, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, ?FIBROMATOSIS, GINGIVAL, 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?CARDIOMYOPATHY, DILATED, 2A, DEAFNESS, AUTOSOMAL RECESSIVE 39, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, AMELOGENESIS IMPERFECTA, TYPE IH, PICK DISEASE, HETEROTOPIA, PERIVENTRICULAR, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, AORTIC ANEURYSM, FAMILIAL THORACIC 4, CORNEAL DYSTROPHY, AVELLINO TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 10, MELNICK-NEEDLES SYNDROME, GLANZMANN THROMBASTHENIA, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, PSEUDOHYPOPARATHYROIDISM IA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ALAND ISLAND EYE DISEASE, PERIODIC FEVER, FAMILIAL, ARTHROGRYPOSIS, DISTAL, TYPE 8, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MYOPATHY, MYOFIBRILLAR, 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALFORMATION OF THE HEART, MALOUF SYNDROME, EPIDERMAL NEVUS, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, IMMUNODEFICIENCY 36, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, DEAFNESS, AUTOSOMAL DOMINANT 56, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, DUCHENNE MUSCULAR DYSTROPHY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, ADRENAL CORTICAL CARCINOMA, SPONDYLOPERIPHERAL DYSPLASIA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 9, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, OROFACIAL CLEFT 11, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, PULMONARY HYPERTENSION, PRIMARY, 3, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, COLOBOMA, OCULAR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 5, DEAFNESS, AUTOSOMAL DOMINANT 20/26, CORNEAL DYSTROPHY, GROENOUW TYPE I, SESAME SYNDROME, HYPERPROINSULINEMIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, AVASCULAR NECROSIS OF THE FEMORAL HEAD, LYMPHEDEMA, HEREDITARY, ID, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, ADULT SYNDROME, ESTROGEN RESISTANCE, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, HEART-HAND SYNDROME, SLOVENIAN TYPE, LEGG-CALVE-PERTHES DISEASE, FACTOR XIIIA DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACROKERATOSIS VERRUCIFORMIS, BRODY MYOPATHY, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, MACULAR DYSTROPHY, PATTERNED, 2, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SYNDACTYLY, TYPE III, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, DEJERINE-SOTTAS DISEASE, CONGENITAL DIAPHRAGMATIC HERNIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, AORTIC VALVE DISEASE 2, IMMUNODEFICIENCY 43, CARDIOMYOPATHY, HYPERTROPHIC, 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC 6, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OSTEOGENESIS IMPERFECTA, TYPE III, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, FOVEAL HYPOPLASIA 1, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, LIMB-MAMMARY SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CHOROID PLEXUS PAPILLOMA, OSTEOGENESIS IMPERFECTA, TYPE I, CONE-ROD DYSTROPHY, X-LINKED, 3, {PSORIASIS SUSCEPTIBILITY 1}, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ATRIAL SEPTAL DEFECT 5, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, VISCERAL MYOPATHY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CARDIOMYOPATHY, HYPERTROPHIC, 11, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, AGAMMAGLOBULINEMIA 4, ?CATARACT 30, PULVERULENT, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, RENAL ADYSPLASIA, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, {CELIAC DISEASE, SUSCEPTIBILITY TO}, WOLFF-PARKINSON-WHITE SYNDROME, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, EPISODIC ATAXIA, TYPE 5, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, SHORT SYNDROME, GLUCOCORTICOID RESISTANCE, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, BARAITSER-WINTER SYNDROME 2, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, HUTCHINSON-GILFORD PROGERIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SUPRAVALVAR AORTIC STENOSIS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, ACNE INVERSA, FAMILIAL, 3, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, OCULODENTODIGITAL DYSPLASIA, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, FACTOR X DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, OTOPALATODIGITAL SYNDROME, TYPE I, LI-FRAUMENI SYNDROME, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, SED CONGENITA, KNIEST DYSPLASIA, OPTIC NERVE HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, DARIER DISEASE, {PARKINSON DISEASE 18}, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, LEUKOCYTE ADHESION DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, THROMBOCYTOPENIA 4, AORTIC ANEURYSM, FAMILIAL THORACIC 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, RETINAL CONE DYSTROPHY 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SPINOCEREBELLAR ATAXIA 42, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

198

CALM1, PDE4D, CAV1, NFKB1, NCF1, MYC, ACTB, IGBP1, CACNA1B, PSEN1, ITGB6, RPL5, ACTN2, CACNA2D4, GRIN2B, CTNNA3, CD82, PTHLH, MYL3, CDH1, GJA1, RYR2, B2M, STK11, PGR, IL10, EGR2, ITGA3, BMP4, SGCB, VIM, EPS8, CTNNA1, BLNK, HLA-DQA1, DES, PIK3CA, TGFBI, MMP2, PRF1, CYCS, CACNB4, EMD, ERBB2, ACTC1, SMAD4, ADCY6, PRKAG2, GNAI2, CTNNB1, AQP2, ACE, TPM1, TGFB2, DSG2, ERBB3, CBL, PAX6, EGFR, CAPN3, IGF2, DSC2, GNAS, TCF7L2, PIK3CD, ATP2A1, SMARCB1, DAG1, TNF, CACNA1D, ADCY1, PRKACG, LEP, COL1A2, ITGA2, CACNA1F, EIF4G1, CALR, DSP, COL2A1, CCND1, IFNG, TPM2, MYLK, JUP, CACNB2, TGFBR1, ITPR1, PRKG1, HSPD1, MYH6, TNFRSF1A, T, TSHR, TNNT2, MYH3, PCBD1, CREBBP, BIN1, TP63, ADCY5, INS, TNC, CD44, CAV3, FLNC, ITGB3, CACNA1G, ITGA8, SOX9, GABBR2, EP300, IGF1, SGCA, VEGFC, MYBPC3, HLA-DRB1, TGFB3, SYN1, MYOC, DMD, BMP2, FOXP3, HRAS, ITGB2, FN1, DYRK1A, TRAC, CFTR, TP53, HLA-DQB1, CD40, SGCD, HGF, SPRY2, HLA-G, A2M, AKT1, IL1B, TTN, PTPN1, PTEN, TJP2, F13A1, POMC, PLN, KAT5, ITGA6, LAMB1, IRS1, FLNA, SMAD3, KCNMA1, CD40LG, MYH7, NOS2, ACTG1, ATP2A2, KNG1, KCNJ10, TGFB1, LAMA2, PTPN11, LMNA, ITGA2B, ITGB4, SGCE, NEB, PRKACA, CACNA1C, HLA-B, AP4M1, SOS1, DST, IL13, ACTN4, IL6, SGCG, CRYAB, CACNA1S, RAB7A, APP, ACTN1, ACTG2, F10, HLA-C, ITGA7, SMAD6, MYH11, NR3C1, ESR1, TNNI3, CASP8, PKP2, KDR, SERPINE1, TPM3, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Systemic lupus erythematosusYesN4.53288e-054.99117

BARAITSER-WINTER SYNDROME 1, IMMUNODEFICIENCY 15, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, C8 DEFICIENCY, TYPE II, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, CEREBROCOSTOMANDIBULAR SYNDROME, ?IMMUNODEFICIENCY 39, DESMOID DISEASE, HEREDITARY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, MEIER-GORLIN SYNDROME 1, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, CORNEAL DYSTROPHY, CONGENITAL STROMAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 68, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, PEROXISOME BIOGENESIS DISORDER 2B, PERIODIC FEVER, FAMILIAL, C3 DEFICIENCY, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, C2 DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NEUTROPENIA, CYCLIC, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, COFFIN-SIRIS SYNDROME 3, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, COFFIN-SIRIS SYNDROME 4, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, C8 DEFICIENCY, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, CORNELIA DE LANGE SYNDROME 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, LI-FRAUMENI SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ADRENAL CORTICAL CARCINOMA, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PLASMA FIBRONECTIN DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, GLAUCOMA 1A, PRIMARY OPEN ANGLE, CHOROID PLEXUS PAPILLOMA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ANGIOEDEMA, HEREDITARY, TYPES I AND II, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, [ECULIZUMAB, POOR RESPONSE TO], C1Q DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, PANCREATIC CANCER/MELANOMA SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?CARDIOMYOPATHY, DILATED, 2A, MASP2 DEFICIENCY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, C4A DEFICIENCY, IMMUNODEFICIENCY 20, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 7, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, PROTEUS SYNDROME, SOMATIC, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY

75

PEX5, GRIN2A, CALR, MMP2, AGL, SMARCA4, C1QA, TP53, MYC, CD59, ORC1, KNG1, IGF2, ACTN1, C1QC, ATM, CD40LG, NOS2, CDKN2A, C5, TNF, IRF7, HLA-DRB1, TNNI3, LEP, POLR3A, APP, CD82, ERBB2, POMC, PLG, FCGR3A, AKT1, MMP1, MYOC, KAT5, C1R, IL10, ACTN4, HLA-DQA1, C2, RUNX1, IFNG, C4A, HLA-DQB1, MASP2, IKBKB, SNRPB, DCN, GRIN2B, T, C3, APC, FN1, SMARCB1, EGFR, S1PR2, C1QB, ACTB, SERPING1, CFTR, C8A, ACTN2, CD40, TNFRSF1A, SELP, FCGR2A, VCP, ELANE, C8B, DYNC1H1, IRF8, SMC3, SERPINF2, PIK3R1

1, 10, 11, 12, 14, 16, 17, 19, 2, 20, 21, 22, 3, 5, 6, 7, 8, 9, X0
Rheumatoid arthritisYesN0.004712854.87149

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OSTEOLYSIS, FAMILIAL EXPANSILE, SHORT SYNDROME, LONG QT SYNDROME 15, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ZIMMERMANN-LABAND SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, ZIMMERMANN-LABAND SYNDROME 1, CAMURATI-ENGELMANN DISEASE, {HASHIMOTO THYROIDITIS}, SUPRAVALVAR AORTIC STENOSIS, PYCNODYSOSTOSIS, GLYCOGEN STORAGE DISEASE XII, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, WRINKLY SKIN SYNDROME, KERATOSIS, SEBORRHEIC, SOMATIC, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], BURKITT LYMPHOMA, AXENFELD-RIEGER SYNDROME, TYPE 1, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EPIDERMAL NEVUS, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, LIMB-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, KAPPA LIGHT CHAIN DEFICIENCY, THROMBOCYTHEMIA 3, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, ADRENAL CORTICAL CARCINOMA, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {LEPROSY, SUSCEPTIBILITY TO}, SPLIT-HAND/FOOT MALFORMATION 4, GLYCOGEN STORAGE DISEASE VII, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PLASMA FIBRONECTIN DEFICIENCY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, KOSAKI OVERGROWTH SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, LEUKOCYTE ADHESION DEFICIENCY, IRIDOGONIODYSGENESIS, TYPE 2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, HAY-WELLS SYNDROME, MYHRE SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ?CARDIOMYOPATHY, DILATED, 2A, ADULT SYNDROME, RETINITIS PIGMENTOSA 18, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 7, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, METACHONDROMATOSIS, RUBINSTEIN-TAYBI SYNDROME 2, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, RING DERMOID OF CORNEA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LEOPARD SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}

77

ACTA1, CALM1, ATP6V1B1, TCIRG1, TGFB2, APP, MMP2, TP53, CBL, MYC, SMAD4, PTEN, POMC, LDHA, FAS, PIK3R2, KNG1, TGFB1, PGK1, PTPN11, IL1B, CXCR4, GATA5, CD40LG, TGFB3, TNFSF11, SPG7, TNF, TP63, PITX2, TNNI3, PRPF3, CD44, AGL, CD82, TNFRSF1A, ITGB2, CCL2, FN1, IFNG, TLR2, TLR4, ALDOA, CTSK, IL6, MMP13, FASLG, JAK2, IL10, HLA-DRB1, ATP5A1, TGFBR1, PFKM, MMP1, EEF1A2, EP300, PIK3CA, ATP6V1B2, CTLA4, CDH1, HRAS, HLA-DQB1, CDK4, IGFBP7, TEK, PDGFRB, TNFRSF11B, TNFRSF11A, IRF8, CD40, STAT3, ACP5, HLA-DQA1, INS, ATP6V0A2, IGKC, PIK3R1

1, 10, 11, 12, 13, 14, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Infectious diseases: ViralYesN1.27539e-051.84894

MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPERFERRITINEMIA-CATARACT SYNDROME, CORNELIA DE LANGE SYNDROME 1, AMYOTROPHIC LATERAL SCLEROSIS 20, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, AICARDI-GOUTIERES SYNDROME 7, IMMUNODEFICIENCY 15, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, SELECTIVE T-CELL DEFECT, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, IMMUNODEFICIENCY 38, MULTIPLE ENDOCRINE NEOPLASIA IIB, FACTOR V DEFICIENCY, LUJAN-FRYNS SYNDROME, MEIER-GORLIN SYNDROME 2, ?IMMUNODEFICIENCY 39, DESMOID DISEASE, HEREDITARY, HERMANSKY-PUDLAK SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, RETINITIS PIGMENTOSA, DYSTONIA-11, MYOCLONIC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HOLOPROSENCEPHALY-9, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, THROMBOCYTOPENIA 5, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, CHOANAL ATRESIA AND LYMPHEDEMA, MULTIPLE SYNOSTOSES SYNDROME 1, LISSENCEPHALY 3, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, ALPHA-2-MACROGLOBULIN DEFICIENCY, MANDIBULOACRAL DYSPLASIA, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, MUIR-TORRE SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ATAXIA-TELANGIECTASIA-LIKE DISORDER, IMMUNODEFICIENCY 35, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, LEUKODYSTROPHY, HYPOMYELINATING, 11, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, ?ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, C3 DEFICIENCY, SPINOCEREBELLAR ATAXIA 15, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, CATARACT 16, MULTIPLE TYPES, SYNDACTYLY, TYPE III, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, ATRANSFERRINEMIA, SPLIT-HAND/FOOT MALFORMATION 6, FAMILIAL COLORECTAL CANCER, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EXUDATIVE VITREORETINOPATHY 1, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ?TETRA-AMELIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, LONG QT SYNDROME 15, JACKSON-WEISS SYNDROME, HOLT-ORAM SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, HAY-WELLS SYNDROME, BRACHYDACTYLY, TYPE A1, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, EMBERGER SYNDROME, CULLER-JONES SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, COPROPORPHYRIA, HARDEROPORPHYRIA, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, CORNEAL DYSTROPHY, SCHNYDER TYPE, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ATRIAL SEPTAL DEFECT 2, TRIGONOCEPHALY 1, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MODY, TYPE III, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, IMMUNODEFICIENCY, COMMON VARIABLE, 7, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FRAGILE X SYNDROME, TOOTH AGENESIS, SELECTIVE, 1, WITH OR WITHOUT OROFACIAL CLEFT, CARDIOMYOPATHY, DILATED, 1A, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, SINGLETON-MERTEN SYNDROME 2, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, LIPOPROTEIN LIPASE DEFICIENCY, IMAGE SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, MYOPATHY, DISTAL, TATEYAMA TYPE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, CRANIOSYNOSTOSIS, TYPE 2, CARNEY COMPLEX, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ?CARDIOMYOPATHY, DILATED, 2A, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, DEAFNESS, AUTOSOMAL RECESSIVE 29, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, OSTEOGENESIS IMPERFECTA, TYPE XV, AGAMMAGLOBULINEMIA 3, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, XERODERMA PIGMENTOSUM, GROUP B, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), [ECULIZUMAB, POOR RESPONSE TO], HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ALZHEIMER DISEASE-2, PROSTATE CANCER 1, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ANEMIA, SIDEROBLASTIC, 4, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?FIBROMATOSIS, GINGIVAL, 1, MISMATCH REPAIR CANCER SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, FOCAL DERMAL HYPOPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NIJMEGEN BREAKAGE SYNDROME, ?PROGESTERONE RESISTANCE, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, COMPLEMENT FACTOR D DEFICIENCY, MELNICK-NEEDLES SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, TREACHER COLLINS SYNDROME 2, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WEAVER SYNDROME, BLAU SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, EVEN-PLUS SYNDROME, OHDO SYNDROME, X-LINKED, LEOPARD SYNDROME 3, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, FAMILIAL MEDITERRANEAN FEVER, AR, HEPATIC ADENOMA, SOMATIC, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MYXOMA, INTRACARDIAC, MEIER-GORLIN SYNDROME 5, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, POLYDACTYLY, PREAXIAL, TYPE IV, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CARDIOMYOPATHY, DILATED, 1NN, {AUTISM, SUSCEPTIBILITY TO, 18}, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RETICULATE ACROPIGMENTATION OF KITAMURA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, TOOTH AGENESIS, SELECTIVE, 4, DIAMOND-BLACKFAN ANEMIA 8, HEMOCHROMATOSIS, TYPE 2B, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, CINCA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NOONAN SYNDROME 9, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, HEMOPHILIA A, [BLOOD GROUP, DUFFY SYSTEM], DENYS-DRASH SYNDROME, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, TOOTH AGENESIS, SELECTIVE, 7, COFFIN-SIRIS SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, LONG QT SYNDROME 14, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, RHEUMATOID ARTHRITIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, TARSAL-CARPAL COALITION SYNDROME, CYLINDROMATOSIS, FAMILIAL, DYSTONIA 9, BROOKE-SPIEGLER SYNDROME, MALFORMATION OF THE HEART, MALOUF SYNDROME, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, MACULAR DYSTROPHY, RETINAL, 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, IMMUNODEFICIENCY 36, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, NON-IMMUNE HYDROPS FETALIS, ?IMMUNODEFICIENCY 25, PALLISTER-HALL SYNDROME, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, RETINITIS PIGMENTOSA 37, DEAFNESS, AUTOSOMAL DOMINANT 56, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CLEFT PALATE, ISOLATED, MUSCULAR DYSTROPHY, CONGENITAL, PICK DISEASE, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, NEPHROTIC SYNDROME, TYPE 1, COMMON VARIABLE IMMUNODEFICIENCY 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, SPINOCEREBELLAR ATAXIA 1, LACTASE PERSISTENCE/NONPERSISTENCE, NOONAN SYNDROME 10, ADRENAL CORTICAL CARCINOMA, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, FRAGILE X TREMOR/ATAXIA SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, APERT SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, OROFACIAL CLEFT 11, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, ?IMMUNODEFICIENCY 22, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, CORNEAL FLECK DYSTROPHY, AORTIC ANEURYSM, FAMILIAL THORACIC 6, DEAFNESS, AUTOSOMAL DOMINANT 20/26, TRYPSINOGEN DEFICIENCY, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, POLYCYSTIC LIVER DISEASE, INCONTINENTIA PIGMENTI, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, BLOOM SYNDROME, HYPERPROINSULINEMIA, ERYTHROCYTOSIS, FAMILIAL, 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, SECKEL SYNDROME 1, PIEBALDISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, IRIDOGONIODYSGENESIS, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AVASCULAR NECROSIS OF THE FEMORAL HEAD, LYMPHEDEMA, HEREDITARY, ID, RETINITIS PIGMENTOSA 11, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, {OROFACIAL CLEFT 6}, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), OLIGODONTIA-COLORECTAL CANCER SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, PAPILLARY THYROID CARCINOMA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, ADULT SYNDROME, ?PARKINSONISM WITH SPASTICITY, X-LINKED, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AICARDI-GOUTIERES SYNDROME 6, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, SENIOR-LOKEN SYNDROME 9, HEART-HAND SYNDROME, SLOVENIAN TYPE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, FACTOR XIIIA DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, LEOPARD SYNDROME 1, XERODERMA PIGMENTOSUM, GROUP D, CARDIOMYOPATHY, DILATED, 1U, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, PULMONARY VENOOCCLUSIVE DISEASE 2, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, IMMUNODEFICIENCY, COMMON VARIABLE, 10, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, REVESZ SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, CAMURATI-ENGELMANN DISEASE, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), POPLITEAL PTERYGIUM SYNDROME 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPERPARATHYROIDISM 1, MYOTUBULAR MYOPATHY, X-LINKED, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FECHTNER SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, DEJERINE-SOTTAS DISEASE, CONGENITAL DIAPHRAGMATIC HERNIA, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 2, IMMUNODEFICIENCY 44, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), ALZHEIMER DISEASE, TYPE 4, AORTIC VALVE DISEASE 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, IMMUNODEFICIENCY 43, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, IMMUNODEFICIENCY 19, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, TIMOTHY SYNDROME, ANGELMAN SYNDROME, CARDIOMYOPATHY, DILATED, 1HH, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, CEREBROOCULOFACIOSKELETAL SYNDROME 3, HOLOPROSENCEPHALY-3, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, RETINITIS PIGMENTOSA 38, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, VAN DER WOUDE SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FRONTOMETAPHYSEAL DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 2B, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FILS SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, [BOMBAY PHENOTYPE], {GLIOBLASTOMA 3}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, AXENFELD-RIEGER SYNDROME, TYPE 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, DYSAUTONOMIA, FAMILIAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, LIMB-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ALAGILLE SYNDROME 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, SERKAL SYNDROME, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, KAPPA LIGHT CHAIN DEFICIENCY, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, LOEYS-DIETZ SYNDROME 5, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ?IMMUNODEFICIENCY 37, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, ACNE INVERSA, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA IIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, OCULOECTODERMAL SYNDROME, MAST CELL DISEASE, PRADER-WILLI SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CORNEAL DYSTROPHY, GROENOUW TYPE I, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, BRACHYDACTYLY, TYPE B1, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, ODONTOONYCHODERMAL DYSPLASIA, PREMATURE OVARIAN FAILURE 1, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, DIAMOND-BLACKFAN ANEMIA 3, CROUZON SYNDROME, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SPINOCEREBELLAR ATAXIA 14, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?ATRIAL FIBRILLATION 15, [PREMATURE CHROMATID SEPARATION TRAIT], AYME-GRIPP SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, KOSAKI OVERGROWTH SYNDROME, OPITZ-KAVEGGIA SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BRACHYDACTYLY, TYPE B2, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, AGAMMAGLOBULINEMIA 4, ?CATARACT 30, PULVERULENT, 46XY SEX REVERSAL 6, FAMILIAL MEDITERRANEAN FEVER, AD, MAY-HEGGLIN ANOMALY, MARFAN LIPODYSTROPHY SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, CATARACT 6, MULTIPLE TYPES, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, SMED STRUDWICK TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CORNEAL DYSTROPHY, AVELLINO TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, NEPHROTIC SYNDROME, TYPE 4, RENAL ADYSPLASIA, ACROMICRIC DYSPLASIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, LADD SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOMAGNESEMIA 3, RENAL, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, RETINITIS PIGMENTOSA 41, RING DERMOID OF CORNEA, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CATARACT 21, MULTIPLE TYPES, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ACHROMATOPSIA 7, RETINITIS PIGMENTOSA 60, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, HETEROTAXY, VISCERAL, 5, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, SINGLETON-MERTEN SYNDROME 1, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CZECH DYSPLASIA, IMMUNODEFICIENCY 21, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, VENTRICULAR SEPTAL DEFECT 1, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CONE-ROD DYSTROPHY 2, GLUCOCORTICOID RESISTANCE, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, TRANSALDOLASE DEFICIENCY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HUTCHINSON-GILFORD PROGERIA, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SUPRAVALVAR AORTIC STENOSIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, APLASIA OF LACRIMAL AND SALIVARY GLANDS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ACNE INVERSA, FAMILIAL, 3, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, MODY, TYPE I, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, TATTON-BROWN-RAHMAN SYNDROME, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, ?SPASTIC PARAPLEGIA 63, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PERRY SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, ?IMMUNODEFICIENCY 16, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ENHANCED S-CONE SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PITUITARY DEPENDENT HYPERCORTISOLISM, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, URBACH-WIETHE DISEASE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MUCKLE-WELLS SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 4, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, NEPHROTIC SYNDROME, TYPE 8, DEAFNESS, AUTOSOMAL DOMINANT 64, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, LYNCH SYNDROME I, DEAFNESS, AUTOSOMAL RECESSIVE 70, {BUDD-CHIARI SYNDROME}, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, TIETZ ALBINISM-DEAFNESS SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], KOOLEN-DE VRIES SYNDROME, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, WAARDENBURG SYNDROME, TYPE 3, GALACTOSIALIDOSIS, PARIETAL FORAMINA 1, FACTOR X DEFICIENCY, XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, SCHOPF-SCHULZ-PASSARGE SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ?BARDET-BIEDL SYNDROME 11, THROMBOCYTHEMIA 3, TREMOR, HEREDITARY ESSENTIAL, 4, MENTAL RETARDATION, X-LINKED 46, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, CHOREA, HEREDITARY BENIGN, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, IMMUNODEFICIENCY 33, WHIM SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, RETINITIS PIGMENTOSA 13, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, CALCIUM OXALATE UROLITHIASIS, ECTOPIA LENTIS, FAMILIAL, {LEPROSY, SUSCEPTIBILITY TO}, DEAFNESS, AUTOSOMAL RECESSIVE 24, {PARKINSON DISEASE 18}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, ENCEPHALOPATHY, NEONATAL SEVERE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 17, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, MYOFIBRILLAR, 6, SPONDYLOCOSTAL DYSOSTOSIS 5, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, PANCREATIC CANCER/MELANOMA SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, ANDROGEN INSENSITIVITY, ?SPERMATOGENIC FAILURE 13, WOLCOTT-RALLISON SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, PROPERDIN DEFICIENCY, X-LINKED, TREACHER COLLINS SYNDROME 3, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, PAGET DISEASE OF BONE 3, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, THROMBOCYTOPENIA 4, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, UTERINE LEIOMYOMA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, NEPHROTIC SYNDROME, TYPE 12, CEREBELLOFACIODENTAL SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 2, MENTAL RETARDATION, X-LINKED 90, FEINGOLD SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, LIPOID ADRENAL HYPERPLASIA, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, IMMUNODEFICIENCY 46, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ATROPHODERMA VERMICULATUM, NEPHROTIC SYNDROME, TYPE 6, HERMANSKY-PUDLAK SYNDROME 7, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, CARDIOMYOPATHY, DILATED, 1II, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CARDIOMYOPATHY, HYPERTROPHIC, 7, ADAMS-OLIVER SYNDROME 3, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 13

564

CALM1, APOE, RPL5, HGF, MSH6, FGFR1, VARS2, SOD1, MEF2C, GNAS, CIITA, ATP6V1B1, FTL, A2M, CD82, PTPRO, CDC6, CFD, B2M, AKT2, PTPN14, NOG, HSPB1, RANBP2, EPHA2, RAB7A, PHF8, ADRB2, MERTK, AR, PRKCH, GFI1B, ATN1, CREBBP, EIF4G1, RPS24, NONO, RASA1, TNFRSF10B, AXIN2, POMC, ISG15, IFNAR2, CD79A, SQSTM1, THRA, C5, BUB1B, MTOR, LAMA1, CFP, HMGA1, PTH, TAF6, PIK3CD, CD27, MRE11A, CBL, CCND1, TALDO1, PER2, EFTUD2, NKX2-1, VPS33B, ITPR1, VEGFC, HSPD1, ROR2, FUS, T, PPP2R2B, SH2D1A, TP63, TYK2, TNC, ARG1, GATA1, CAV3, AGL, TRAF3IP1, IL2RA, GABBR2, SMAD4, DVL3, ETV6, IGHM, HDAC6, SLC2A1, CTDP1, HRG, CASQ2, FZD6, AKT1, KAT5, NPHS1, HOXA11, CHEK2, EZH2, GLI3, KIF11, CSNK1D, IL1B, FANCA, HSPA9, EFNB1, ACTB, IL1RN, HAMP, NOD2, PER3, EIF2B1, TNFSF11, AURKA, IKZF1, AQP5, DIABLO, KNG1, PIK3R2, PTPN11, LPL, GATA4, CHD8, SPG7, UQCRC2, MT-CO2, FLT3, HLA-B, WNT10A, EGR2, CXCR4, STAR, TNFAIP3, CALR, POT1, CD36, LRP6, HLA-DQB1, TF, POLR3B, ALB, TAP2, PEX5, WNT10B, CTNNA1, TRIM32, APOB, MMP1, F5, RPS7, PSEN1, CYLD, ITGA2B, TAF4B, IL4R, WT1, IKBKAP, BAG3, CYCS, TGFBI, POLE, PRF1, CDC73, MEFV, ARHGDIA, MITF, ADAR, NR2E3, GNAI2, IL2RG, CD81, TGFBR2, CSF2RB, TGFB2, CNTN2, MAP2K2, HLA-C, FGF9, ADCY6, NME1, SP7, HBA1, IL12B, NOTCH1, MYCN, ERCC3, MXI1, NPM1, EDNRA, PRKACG, CD3E, SCARB2, FZD4, SNRNP200, MSX2, RASSF1, MAFB, CD247, JUP, PIKFYVE, MEN1, GDNF, CASR, ACTA2, RB1, TNFRSF11A, STAT3, BRAF, ATF6, SOS2, ORC4, SMAD6, DNM1, BLNK, IGF1, FLT4, CTCF, NEUROD1, FUT2, NFKB2, BMP2, F10, NDN, DRD2, KANSL1, DVL1, ATXN1, APOA1, TP53, EGFR, IKBKB, AQP2, SNCA, PRKCG, EIF2AK4, PRSS1, TJP2, IRF1, MAF, ITGA6, KIT, TLR2, USH2A, IRF5, DLG3, CYBB, NODAL, KRT8, PAX3, TRAC, ACTG1, NR3C1, PRKCSH, CLDN1, PRPF6, GATA6, RRAS2, DTNBP1, EIF2AK3, STAT1, MAP3K1, CACNA1C, NOS3, PLG, NUP214, LDLR, BLM, DNMT1, FCGR2B, IL6, CRYAB, PCSK9, PCNA, POLR1C, ACTN1, APC, WNT4, RNASEL, ADAM17, PROM1, SMAD3, HSPG2, TNF, NLRP3, TNNI3, NDUFS2, SERPINE1, SKIV2L, LMNA, F2, ADCY1, CD3D, PRPF31, IFIH1, FAS, CDK6, IKBKG, HLA-G, CTSA, MUC1, IGKC, LEP, CDK5, CDH1, KMT2A, MCM6, SOS1, FRZB, FMR1, FBP1, COL1A1, PIK3CA, HNRNPA1, CNBP, TBK1, ECM1, GATA3, COL2A1, RBPJ, ADAM10, ACTA1, VRK1, MFN2, SMARCA4, RUNX1, IL10, CASP8, LZTR1, STUB1, GPC3, NOTCH2, UBIAD1, CAD, MYD88, GATA2, EDA, COL1A2, HNRNPK, JAK2, LYZ, MET, NFKBIA, POLR1D, EEF1A2, C3, ERCC5, TNFRSF1A, SPRY2, PTPN1, GSC, IRF8, CLDN16, ACVR1, VCP, INS, CD44, ITGB3, OAS1, PAX2, HLA-DRB1, FLNA, SYN1, VHL, IL10RB, RAPSN, RDX, BRCA1, ITGB2, FN1, KCNMA1, ACKR1, FBN1, RAF1, DCTN1, SLC9A3R1, IHH, POLD1, CDK4, TERT, HNF1A, PTEN, F13A1, PIK3R5, STAT2, NRAS, IRS1, SMARCB1, PRKCD, UBB, EPHB2, TLR4, CSF1R, WNT3, BCL10, JAK3, TBP, MYH9, FGF10, TGFB1, FADD, IL13, DNMT3A, BAX, ATP6AP2, ZHX2, MSX1, STX11, APP, HRAS, IRS2, ACTN2, OCLN, ZAP70, IRF6, GFI1, CD46, TINF2, TUFM, PDGFB, BRCA2, CAV1, POLR1A, PRPF8, TAB2, APRT, PRPH, F8, PABPN1, DNM2, TAP1, DDX3X, NBN, IRF7, PPARG, INSR, OTX2, PRKAR1A, MYC, CTNNB1, BTK, IL10RA, CDKN2A, BMP4, CLASP1, VIM, NEU1, CLDN14, SERPINH1, TFRC, ERCC2, PDGFRB, CD40, HLA-DQA1, ERBB2, SMARCA2, PRSS2, KRAS, TNFRSF13C, GLI2, TUBA1A, SYN2, WRN, TCF7L2, CPOX, LRP1, LPIN1, TARDBP, PGR, BCKDHA, COPA, CLDN19, IFNG, CD40LG, HTT, RELN, WNT1, TGFBR1, EP300, TAF1, ARHGEF6, TNFRSF4, NLRP1, HCFC1, GLUD1, ADCY5, PTPRC, PSENEN, IFNGR1, CFB, PAX8, PLIN1, PLK4, RET, GJA1, WNT7A, HNF4A, LDHA, DDB2, MECP2, PPP2R1A, TGFB3, NLRC4, NUP155, FOXP3, CCND2, MMP2, PRKDC, WNT5A, TBX5, DDX58, MED12, SLC25A4, MPDZ, NUP93, CCL2, CDKN1C, SELE, MUSK, CHRM3, AXIN1, PNPT1, RUNX2, LCK, IFNGR2, NGF, RETN, CASP10, ATP1B1, ENTPD1, ATM, NOS2, BRF1, IRF3, NFKB1, ESR1, POLR3A, GATA5, CD19, AKT3, DLC1, PITX2, MSH2, FGFR2, PLCG2, CD3G, CDKN1B, RPL11, PDGFRA, FLNC, TBX6, POLR2F, FASLG, AMPD2, DNAJC3, PRKACA, CFTR, NR0B2, ATR, CR2, PIK3R1, KDR, HFE, PORCN, PPP2R1B, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Inflammatory bowel disease (IBD)YesN4.77066e-085.55101

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, BLAU SYNDROME, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, FRONTOTEMPORAL DEMENTIA, PYCNODYSOSTOSIS, ALPHA-2-MACROGLOBULIN DEFICIENCY, ACNE INVERSA, FAMILIAL, 3, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, ALZHEIMER DISEASE, TYPE 4, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RUBINSTEIN-TAYBI SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 3, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, OCULODENTODIGITAL DYSPLASIA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SYNDACTYLY, TYPE III, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, KERATOSIS, SEBORRHEIC, SOMATIC, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], KAPPA LIGHT CHAIN DEFICIENCY, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, EPIDERMAL NEVUS, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, IMMUNODEFICIENCY 30, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, POLYCYTHEMIA VERA, SOMATIC, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, THROMBOCYTHEMIA 3, {MELANOMA, CUTANEOUS MALIGNANT, 3}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, CLOVE SYNDROME, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {LEPROSY, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOPLASTIC LEFT HEART SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LOEYS-DIETZ SYNDROME 5, AYME-GRIPP SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, LYMPHOPROLIFERATIVE SYNDROME 1, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, PICK DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, FACTOR XIIIA DEFICIENCY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, CATARACT 21, MULTIPLE TYPES, {CELIAC DISEASE, SUSCEPTIBILITY TO}

61

KNG1, IFNGR2, AGL, SMAD3, NGF, IL10, NOS2, TLR4, IRF1, CTSK, CIITA, PSEN1, PPARG, STAT1, TGFB3, TGFB2, TNF, TGFB1, IGKC, HLA-DRB1, NFKB1, NOD2, NOS3, FOXP3, IL12RB1, CDK4, GJA1, TRAC, VDR, ESR1, IL4R, IL6, IFNG, IL21R, HLA-DQB1, IL2RG, TBX21, IL17RA, APP, IL21, EP300, PIK3CA, A2M, TLR2, IL1B, IL12B, ITK, IRS1, F13A1, CREBBP, POMC, MAF, STAT3, GATA3, KAT5, HLA-DQA1, IL13, JAK2, IFNGR1, RORC, MYD88

1, 10, 11, 12, 14, 15, 16, 17, 19, 2, 21, 22, 3, 4, 5, 6, 7, 9, X0
Toll-like receptor signaling pathwayYesN0.0397275.03129

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?IMMUNODEFICIENCY 39, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, PYCNODYSOSTOSIS, AGAMMAGLOBULINEMIA, X-LINKED 1, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, AORTIC VALVE DISEASE 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 35, ATRIOVENTRICULAR SEPTAL DEFECT 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, ESSENTIAL HYPERTENSION, VAN DER WOUDE SYNDROME, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, SYNDACTYLY, TYPE III, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, NEUTROPENIA, CYCLIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, KERATOSIS, SEBORRHEIC, SOMATIC, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, KAPPA LIGHT CHAIN DEFICIENCY, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, TUBEROUS SCLEROSIS 2, EPIDERMAL NEVUS, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, LI-FRAUMENI SYNDROME, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, POLYCYTHEMIA VERA, SOMATIC, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, THROMBOCYTHEMIA 3, IMMUNODEFICIENCY 38, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, CARDIOMYOPATHY, DILATED, 1NN, ADRENAL CORTICAL CARCINOMA, CLOVE SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, CALCIUM OXALATE UROLITHIASIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, WAGNER SYNDROME 1, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, INCONTINENTIA PIGMENTI, HYPOPLASTIC LEFT HEART SYNDROME 1, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, OSTEOLYSIS, FAMILIAL EXPANSILE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, IMMUNODEFICIENCY, COMMON VARIABLE, 12, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, {OROFACIAL CLEFT 6}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

78

CD44, FASLG, ACE, CTSK, TNFSF11, APP, NFKB1, CTNNB1, TP53, IL10, MAP2K2, DRD2, PTEN, TBK1, ALB, ISG15, PIK3R2, AKT1, IKBKG, IFNAR2, RNF216, PIK3CD, CXCR4, CR2, CD40LG, IRF7, NOS2, IL6, IGFBP7, AGT, TGFB1, IGKC, APPL1, ESR1, CDK5, IRF3, PRF1, AKT2, MTOR, CCL2, LCK, JAK2, ELANE, GJA1, AKT3, MAP3K8, NFKBIA, TNFRSF11A, STAT1, CASP8, IKBKB, CD40, PIK3R5, SMAD6, TLR4, IRF6, PIK3CA, TAB2, VCAN, IRF5, EGFR, IL12B, IFNG, RAF1, IL1B, MYD88, IRF8, CREBBP, BTK, TNF, STAT3, STAT2, IRF1, TYK2, TLR2, RB1, PIK3R1, FADD

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 3, 4, 5, 6, 7, 8, 9, X0
Glycosaminoglycan degradationYesN0.02121687.8628

NON-IMMUNE HYDROPS FETALIS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CAMURATI-ENGELMANN DISEASE, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, GM1-GANGLIOSIDOSIS, TYPE I, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS, MPS-III-A, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MUCOPOLYSACCHARIDOSIS IS, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), GM1-GANGLIOSIDOSIS, TYPE III, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, MUCOPOLYSACCHARIDOSIS II, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V, MUCOPOLYSACCHARIDOSIS IH/S, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, UROFACIAL SYNDROME 1, CALCIUM OXALATE UROLITHIASIS, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, RETINITIS PIGMENTOSA 73, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MUCOPOLYSACCHARIDOSIS IVA

18

SGSH, ARSB, NEU1, GLB1, GALNS, TGFB1, IDS, HPSE2, HSPG2, HEXA, NAGLU, HEXB, CD44, HGSNAT, IDUA, GNS, GUSB, HYAL1

1, 10, 11, 12, 15, 16, 17, 19, 3, 4, 5, 6, 7, 8, X0
Long-term depressionYesN0.01028045.69120

CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, LONG QT SYNDROME 15, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SYNDACTYLY, TYPE III, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PULMONARY VENOOCCLUSIVE DISEASE 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, SPINOCEREBELLAR ATAXIA 14, CARDIOFACIOCUTANEOUS SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, LEOPARD SYNDROME 3, FRONTOTEMPORAL DEMENTIA, SUPRAVALVAR AORTIC STENOSIS, EPISODIC ATAXIA, TYPE 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, ACNE INVERSA, FAMILIAL, 3, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, PSEUDOHYPOPARATHYROIDISM IA, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ATRIOVENTRICULAR SEPTAL DEFECT 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MOYAMOYA 6 WITH ACHALASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, OCULODENTODIGITAL DYSPLASIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, ESSENTIAL HYPERTENSION, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, ?SPINOCEREBELLAR ATAXIA 41, OVARIAN HYPERSTIMULATION SYNDROME, LONG QT SYNDROME 14, AURICULOCONDYLAR SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, OSSEOUS HETEROPLASIA, PROGRESSIVE, SPINOCEREBELLAR ATAXIA 6, EPIDERMAL NEVUS, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OCULOECTODERMAL SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARDIOMYOPATHY, DILATED, 1NN, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, AURICULOCONDYLAR SYNDROME 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, 46,XX SEX REVERSAL, TYPE 2, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, PAPILLARY THYROID CARCINOMA, NOONAN SYNDROME 7, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, PICK DISEASE, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, OVARIAN RESPONSE TO FSH STIMULATION, NEUROCUTANEOUS MELANOSIS, SOMATIC, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, CARDIOMYOPATHY, DILATED, 1U, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

53

CALM1, SOX9, F2, GNAI3, KRAS, GNAO1, NRAS, MAP2K2, IGF1, GNA11, PRKCD, GNAQ, GRM1, PSEN1, ATM, GRIP1, PPP1R17, RYR1, EDNRA, ESR1, PPP2R1A, NOS3, AKT1, GJA1, ITPR2, BMPR2, FSHR, GNAI2, IGF1R, TRPC3, GNAS, RAF1, ADRB2, GRIN2B, ITPR1, PRKG1, CACNA1A, HRAS, SNCA, PRKCG, PPP2R1B, ITPR3, TLR4, GRID2, BRAF, STAT3, CFTR, PLCB4, GUCY1A3, PLCB1, PTPRF, MTOR, PIK3R1

1, 10, 11, 12, 14, 15, 16, 17, 19, 2, 20, 3, 4, 5, 6, 7, 90
Salivary secretionNoN0.03416995.15117

CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?LICHTENSTEIN-KNORR SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PARKINSON DISEASE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, SPINOCEREBELLAR ATAXIA 14, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MEDULLARY CYSTIC KIDNEY DISEASE 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AURICULOCONDYLAR SYNDROME 3, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOHYPOPARATHYROIDISM IA, AORTIC VALVE DISEASE 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, PSEUDOHYPOPARATHYROIDISM IC, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, MOYAMOYA 6 WITH ACHALASIA, HYPERPROINSULINEMIA, SPINOCEREBELLAR ATAXIA 15, CAPOS SYNDROME, ESSENTIAL HYPERTENSION, IMMUNODEFICIENCY 43, AORTIC ANEURYSM, FAMILIAL THORACIC 8, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, PITUITARY DEPENDENT HYPERCORTISOLISM, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ?SPINOCEREBELLAR ATAXIA 41, LONG QT SYNDROME 14, AURICULOCONDYLAR SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, DYSTONIA-12, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, OSSEOUS HETEROPLASIA, PROGRESSIVE, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPOMAGNESEMIA 2, RENAL, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, TIMOTHY SYNDROME, NOONAN SYNDROME 4, BRACHYDACTYLY, TYPE E2, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, CEREBRAL AMYLOID ANGIOPATHY, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, SPINOCEREBELLAR ATAXIA 1, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLIOMA SUSCEPTIBILITY 1, ADRENAL CORTICAL CARCINOMA, AURICULOCONDYLAR SYNDROME 1, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ATRIAL STANDSTILL 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, ?PRUNE BELLY SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, 46,XX SEX REVERSAL, TYPE 2, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?FIBROMATOSIS, GINGIVAL, 1, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SEGAWA SYNDROME, RECESSIVE, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ATRIAL FIBRILLATION, FAMILIAL, 6, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, SMITH-KINGSMORE SYNDROME

69

CALM1, SOX9, APP, GNAQ, PLCB1, SLC9A1, APOA1, PDE4D, TH, ITPR1, NPPA, ADRB2, CST3, ATP1B1, TNF, PRKG1, NOS3, PPARG, ATM, MUC1, CHRM3, CFTR, CASR, ATP2B3, MTOR, NFKB1, MUC5B, PRKACG, PRKACA, CACNA1C, LEP, PTHLH, GUCY1A3, SOS1, ADCY1, KCNMA1, IL13, B2M, LYZ, IL6, ATP1A2, ATXN1, TRPC3, TP53, MUC7, ATP2B2, ATP1A3, GNAS, AQP5, SMAD6, EP300, FOXO1, EDN1, SNCA, EGFR, PRKCG, GNRH1, ITPR3, ADCY6, SLC9A3R1, ADRB3, FXYD2, CDH1, ADCY5, ITPR2, GNAI2, INS, KCNN4, PLCB4

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Gastric acid secretionNoN0.0393945.54113

BARAITSER-WINTER SYNDROME 1, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?LICHTENSTEIN-KNORR SYNDROME, BARTTER SYNDROME, TYPE 2, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, LONG QT SYNDROME 15, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, SPINOCEREBELLAR ATAXIA 14, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, ATRIAL FIBRILLATION, FAMILIAL, 9, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SUPRAVALVAR AORTIC STENOSIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, PSEUDOHYPOPARATHYROIDISM IA, ATRIAL FIBRILLATION, FAMILIAL, 3, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, ATRIAL FIBRILLATION, FAMILIAL, 7, CARDIOMYOPATHY, DILATED, 3B, RIPPLING MUSCLE DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 15, LONG QT SYNDROME 6, CAPOS SYNDROME, ESSENTIAL HYPERTENSION, AORTIC ANEURYSM, FAMILIAL THORACIC 8, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, PITUITARY DEPENDENT HYPERCORTISOLISM, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LOEYS-DIETZ SYNDROME 3, PRIMARY PULMONARY HYPERTENSION, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ?SPINOCEREBELLAR ATAXIA 41, LONG QT SYNDROME 14, AURICULOCONDYLAR SYNDROME 2, ALTERNATING HEMIPLEGIA OF CHILDHOOD, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, OSSEOUS HETEROPLASIA, PROGRESSIVE, EPIDERMAL NEVUS, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, IMMUNODEFICIENCY 36, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, JERVELL AND LANGE-NIELSEN SYNDROME 1, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SHORT QT SYNDROME 2, TIMOTHY SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, DYSTONIA-12, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, AURICULOCONDYLAR SYNDROME 1, THYROTROPIN-RELEASING HORMONE DEFICIENCY, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?PRUNE BELLY SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, ?FIBROMATOSIS, GINGIVAL, 1, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, AORTIC ANEURYSM, FAMILIAL THORACIC 7, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, SMITH-KINGSMORE SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC

56

KCNA5, CALM1, CAV3, GRIN2B, GNAQ, KCNQ1, GNAI3, KCNMA1, TRPC3, MYC, ADCY6, ACTB, MYLK2, KCNJ10, ATP1B1, NOS3, MYLK, CFTR, CASR, GDNF, ITPR3, DMD, PLCB1, PRKACA, CACNA1C, ATP1A2, KCNE2, SOS1, CA2, KCNH2, SLC9A1, ITPR2, PRKACG, KCNJ1, ATP1A3, GNAS, TRH, ADRB2, APP, ITPR1, PRKG1, KCNJ2, AKT1, HRAS, DAG1, PRKCG, SMAD3, SLC9A3R1, CHRM3, ADCY1, ADCY5, PLCB4, GNAI2, CTNNB1, MTOR, PIK3R1

1, 10, 11, 12, 14, 15, 17, 19, 2, 20, 21, 3, 4, 5, 6, 7, 8, 9, X0
Pancreatic secretionNoN0.03143755.1113

DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, ?LICHTENSTEIN-KNORR SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, WAARDENBURG SYNDROME, TYPE 4A, PARKINSON DISEASE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, SPINOCEREBELLAR ATAXIA 14, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AURICULOCONDYLAR SYNDROME 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PSEUDOHYPOPARATHYROIDISM IC, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ATRIAL FIBRILLATION, FAMILIAL, 3, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, SPINOCEREBELLAR ATAXIA 15, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, CAPOS SYNDROME, ESSENTIAL HYPERTENSION, AORTIC ANEURYSM, FAMILIAL THORACIC 8, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, [FLECK RETINA, FAMILIAL BENIGN], OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, LONG QT SYNDROME 14, AURICULOCONDYLAR SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, DYSTONIA-12, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, OSSEOUS HETEROPLASIA, PROGRESSIVE, LONG QT SYNDROME 15, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, HYPOMAGNESEMIA 2, RENAL, JERVELL AND LANGE-NIELSEN SYNDROME 1, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, GRISCELLI SYNDROME, TYPE 1, SHORT QT SYNDROME 2, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, WHIM SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, QUESTION MARK EARS, ISOLATED, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 1, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, DARIER DISEASE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PULMONARY HYPERTENSION, PRIMARY, 3, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, ?PRUNE BELLY SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, TRYPSINOGEN DEFICIENCY, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ABCD SYNDROME, 3MC SYNDROME 1, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, PANCREATIC LIPASE DEFICIENCY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MICROVILLUS INCLUSION DISEASE, ACROKERATOSIS VERRUCIFORMIS, BRODY MYOPATHY, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

70

CALM1, CA2, PRSS2, CAV1, KCNQ1, ADCY1, NGF, MASP1, NOS2, ATP2A2, PTGER2, NALCN, ATP1B1, AKT1, GRM1, PLA2G5, CXCR4, ATP2A1, CHRM3, IL6, CASR, MYO5B, TNF, MYO5A, STXBP1, PLCB1, FXYD2, PRKACA, ATP1A2, PLA2G2A, MTOR, CDH1, KCNMA1, SLC9A1, CD3E, ING1, KLF1, CEL, GNAQ, ADRB2, IL1B, ATP1A3, GNAS, ATP2B3, APP, ITPR1, PRKG1, EDN1, EDNRB, ATP2B2, SNCA, PRKCG, GNRH1, PLCB4, SLC4A4, CFTR, ITPR3, ADCY6, SLC9A3R1, HSPG2, STAT3, ITPR2, ADCY5, RYR2, GNAI2, IL13, SLC26A3, SNAP25, PRSS1, PNLIP

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 3, 4, 5, 6, 7, 8, 9, X0
Protein digestion and absorptionYesN1.50236e-055.3154

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, CZECH DYSPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, LYSINURIC PROTEIN INTOLERANCE, LONG QT SYNDROME 15, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LEBER CONGENITAL AMAUROSIS 16, PORENCEPHALY 2, EPIDERMOLYSIS BULLOSA PRURIGINOSA, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CAFFEY DISEASE, RENAL TUBULAR DYSGENESIS, STICKLER SYNDROME, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 19, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PORENCEPHALY 1, SUPRAVALVAR AORTIC STENOSIS, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, ?RETINAL ARTERIES, TORTUOSITY OF, CORNEAL DYSTROPHY, CONGENITAL STROMAL, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?STEEL SYNDROME, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, RENAL CYSTS AND DIABETES SYNDROME, TOENAIL DYSTROPHY, ISOLATED, HUNTINGTON DISEASE, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLIOMA SUSCEPTIBILITY 1, OSTEOGENESIS IMPERFECTA, TYPE IV, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, VON WILLEBRAND DISEASE, TYPE 1, HYPERPROINSULINEMIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ESSENTIAL HYPERTENSION, ?STICKLER SYNDROME, TYPE V, DYSTONIA 27, EHLERS-DANLOS SYNDROME, TYPE 3, EBD, BART TYPE, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, BENIGN FAMILIAL HEMATURIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EPIDERMOLYSIS BULLOSA, PRETIBIAL, LONG QT SYNDROME 14, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, DYSTONIA-12, BETHLEM MYOPATHY 1, HARTNUP DISORDER, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, HYPERGLYCINURIA, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOGENESIS IMPERFECTA, TYPE I, HYPOMAGNESEMIA 2, RENAL, JERVELL AND LANGE-NIELSEN SYNDROME 1, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SHORT QT SYNDROME 2, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ?DEAFNESS, X-LINKED 6, ATRIAL FIBRILLATION, FAMILIAL, 3, KNOBLOCH SYNDROME 1, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?MYOSCLEROSIS, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, AVASCULAR NECROSIS OF THE FEMORAL HEAD, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DEAFNESS, AUTOSOMAL RECESSIVE 53, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, PLASMA FIBRONECTIN DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, IMINOGLYCINURIA, DIGENIC, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, TRYPSINOGEN DEFICIENCY, FIBROCHONDROGENESIS 2, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, DICARBOXYLIC AMINOACIDURIA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, EPITHELIAL RECURRENT EROSION DYSTROPHY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, TRANSIENT BULLOUS OF THE NEWBORN, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, CYSTINURIA, 3MC SYNDROME 1, CUTIS LAXA, AD, SNOWFLAKE VITREORETINAL DEGENERATION, STICKLER SYNDROME, TYPE III, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, DEAFNESS, AUTOSOMAL DOMINANT 13, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, QUEBEC PLATELET DISORDER, CAPOS SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, LEGG-CALVE-PERTHES DISEASE, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PROTEUS SYNDROME, SOMATIC, MARSHALL SYNDROME

72

CALM1, PRSS2, COL18A1, ITGB3, KCNQ1, PPARG, NGF, KCNN4, HNF1B, IGF1, MASP1, COL4A4, SLC7A9, COL6A2, COL1A1, TNF, TGFB1, VWF, COL3A1, SLC9A3, F2, COL6A1, COL11A1, COL11A2, VHL, STAT3, COL5A1, APP, COL7A1, ATP1A2, COL9A2, COL6A3, FN1, ELN, SOX10, MEF2C, COL17A1, ING1, SLC6A4, COL4A3, COL5A2, ERBB3, SLC1A1, COL4A2, COL4A6, HTT, COL4A1, DCN, COL27A1, COL1A2, KCNE3, AKT1, SLC3A1, ATP1B1, KCNJ13, IL1B, ATP1A3, FGG, COL13A1, SLC7A7, CAPN3, HSPG2, AGT, FXYD2, COL9A1, COL2A1, COL9A3, INS, SLC6A19, COL4A5, PRSS1, PLAU

1, 10, 11, 12, 13, 14, 15, 17, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 9, X0
Bile secretionYesN0.02198625.42113

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?LICHTENSTEIN-KNORR SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, LONG QT SYNDROME 15, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, GALLBLADDER DISEASE 1, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, AURICULOCONDYLAR SYNDROME 3, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BILE ACID MALABSORPTION, PRIMARY, RUBINSTEIN-TAYBI SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, MODY, TYPE I, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, HYPERPROINSULINEMIA, SPINOCEREBELLAR ATAXIA 15, CAPOS SYNDROME, ESSENTIAL HYPERTENSION, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, ATRIOVENTRICULAR SEPTAL DEFECT 4, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, GLUCOSE/GALACTOSE MALABSORPTION, LONG QT SYNDROME 14, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, HYPOMAGNESEMIA 2, RENAL, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, KLEEFSTRA SYNDROME, [URIC ACID CONCENTRATION, SERUM, QTL1], NOONAN SYNDROME 4, BRACHYDACTYLY, TYPE E2, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, QUESTION MARK EARS, ISOLATED, SPINOCEREBELLAR ATAXIA 1, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, GLIOMA SUSCEPTIBILITY 1, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, ATRIAL SEPTAL DEFECT 2, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, DYSTONIA 9, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, VENTRICULAR SEPTAL DEFECT 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PSEUDOHYPOPARATHYROIDISM IA, DUBIN-JOHNSON SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?FIBROMATOSIS, GINGIVAL, 1, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PREMATURE OVARIAN FAILURE 7, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, SITOSTEROLEMIA, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, SPERMATOGENIC FAILURE 8, DYSTONIA-12, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, PROTEUS SYNDROME, SOMATIC

62

CALM1, CA2, SSR4, SLCO1B3, PPARG, KCNMA1, ABCB11, HNF1B, EP300, SLC9A3R1, NR5A1, ABCG5, ATP1B1, GATA4, F2, SLCO1B1, EPHX1, SLC9A3, HNF4A, PPP2R1A, ATP1A2, PTHLH, POMC, ALB, AKT1, SLC9A1, SOS1, NR1I3, BAAT, CREBBP, ABCC2, IGF1R, ATXN1, IL6, SLC5A1, CFTR, ATP1A3, ABCB4, INS, GNAS, ADRB2, ITPR1, ABCG8, EDN1, CSNK1D, IL1B, SLC10A2, ABCG2, PRKACA, IFNG, SLC4A4, SLC2A1, NR0B2, ADCY6, NR3C1, FXYD2, ADCY1, ADCY5, PRKACG, LDLR, CTNNB1, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 20, 22, 3, 4, 5, 6, 7, 8, 9, X0
Staphylococcus aureus infectionYesN9.74475e-105.6485

OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATRIAL STANDSTILL 2, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, GLIOMA SUSCEPTIBILITY 1, ICHTHYOSIS WITH CONFETTI, CAMURATI-ENGELMANN DISEASE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, [ECULIZUMAB, POOR RESPONSE TO], C1Q DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, BASAL LAMINAR DRUSEN, HYPERPROINSULINEMIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, TUBEROUS SCLEROSIS 2, PLASMA FIBRONECTIN DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 20, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, C2 DEFICIENCY, C3 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, DESMOID DISEASE, HEREDITARY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, COMPLEMENT FACTOR I DEFICIENCY, KERATOSIS PALMOPLANTARIS STRIATA I, AD, MASP2 DEFICIENCY, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, 3MC SYNDROME 1, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, ANGIOEDEMA, HEREDITARY, TYPES I AND II, C1R/C1S DEFICIENCY, COMBINED, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, COMPLEMENT FACTOR H DEFICIENCY, CORNEAL DYSTROPHY, CONGENITAL STROMAL, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, ATRIAL FIBRILLATION, FAMILIAL, 6, C4A DEFICIENCY, DEAFNESS, AUTOSOMAL RECESSIVE 68, EPIDERMOLYTIC HYPERKERATOSIS, ?IMMUNODEFICIENCY 22, COMPLEMENT FACTOR D DEFICIENCY, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC

56

LCK, C3AR1, APP, NGF, C1QA, MASP1, IL10, MYC, NPPA, POMC, KNG1, TGFB1, C1QC, C1R, HLA-DRB1, VCP, SPG7, LEP, TNF, APC, CFB, CD46, CD82, PLG, FCGR3A, AKT1, FN1, C1QB, CFD, FCGR2B, C2, CFI, RUNX1, IFNG, C4A, CFH, MBL2, ITGB2, DCN, CALR, T, C3, MASP2, DSG1, HLA-DQB1, S1PR2, C5, FGG, SERPING1, KRT1, KRT10, SELP, FCGR2A, HLA-DQA1, INS, ERBB2

1, 10, 11, 12, 14, 16, 17, 18, 19, 2, 21, 3, 4, 5, 6, 7, 8, 90
TuberculosisYesN0.0002641653.82244

{PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MYOPATHY, MYOFIBRILLAR, 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANEMIA, SIDEROBLASTIC, 4, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, SELECTIVE T-CELL DEFECT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?IMMUNODEFICIENCY 39, CARDIOMYOPATHY, DILATED, 1II, BLAU SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, SUPRAVALVAR AORTIC STENOSIS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ATRANSFERRINEMIA, SPLIT-HAND/FOOT MALFORMATION 4, GLYCOGEN STORAGE DISEASE XII, ALZHEIMER DISEASE, TYPE 4, ACNE INVERSA, FAMILIAL, 3, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, NEUTROPENIA, CYCLIC, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, VITAMIN D-DEPENDENT RICKETS, TYPE I, IMMUNODEFICIENCY 35, HAY-WELLS SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 3, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, 1NN, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, C3 DEFICIENCY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, CATARACT 16, MULTIPLE TYPES, SYNDACTYLY, TYPE III, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, WRINKLY SKIN SYNDROME, FAMILIAL COLORECTAL CANCER, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, KERATOSIS, SEBORRHEIC, SOMATIC, LONG QT SYNDROME 14, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, LIMB-MAMMARY SYNDROME, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], BURKITT LYMPHOMA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EPIDERMAL NEVUS, LONG QT SYNDROME 15, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, COFFIN-SIRIS SYNDROME 4, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, LOEYS-DIETZ SYNDROME 1, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, IMMUNODEFICIENCY 12, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, QUEBEC PLATELET DISORDER, EVEN-PLUS SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, THROMBOCYTHEMIA 3, INFANTILE MYOFIBROMATOSIS 1, OCULOECTODERMAL SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, LIPOID ADRENAL HYPERPLASIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLIOMA SUSCEPTIBILITY 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, HYPOPLASTIC LEFT HEART SYNDROME 1, TANGIER DISEASE, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {LEPROSY, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 24, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE VII, CORNELIA DE LANGE SYNDROME 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, PLASMA FIBRONECTIN DEFICIENCY, ?IMMUNODEFICIENCY 22, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, BLEEDING DISORDER, PLATELET-TYPE, 11, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, LOEYS-DIETZ SYNDROME 5, WAGNER SYNDROME 1, AYME-GRIPP SYNDROME, GLYCOGEN STORAGE DISEASE XI, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, INCONTINENTIA PIGMENTI, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, KOSAKI OVERGROWTH SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, LEUKOCYTE ADHESION DEFICIENCY, CATARACT 21, MULTIPLE TYPES, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 17, {OROFACIAL CLEFT 6}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?CARDIOMYOPATHY, DILATED, 2A, PAGET DISEASE OF BONE 3, DANON DISEASE, ADULT SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, THROMBOCYTOPENIA 4, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 7, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PSEUDOHYPOALDOSTERONISM, TYPE IIE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, PSEUDOHYPOALDOSTERONISM, TYPE 2, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PICK DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, FACTOR XIIIA DEFICIENCY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, VAN DER WOUDE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

157

CALM1, CA2, MYC, PRKACA, FAS, CUL3, IKBKG, CYCS, PSEN1, ATP6V1B1, AGT, IGKC, CTNNB1, CDK5, CD82, CDK4, REN, BTK, FGA, PLAU, B2M, IL10RA, RAB7A, TGFBR1, PIK3CA, VCAN, PDGFRB, TBK1, HLA-DQA1, ATP6V0A2, ERBB2, ANXA5, TGFB2, F13A1, KRAS, APOA1, CIITA, EGFR, CREBBP, IFNAR2, IL12B, SQSTM1, NOS3, ZHX2, PFKM, BAX, TNF, MYD88, IL21, TNNI3, PTH, TAF6, AKT2, RFXAP, ABCA1, JAK2, CALR, IL10, CARD9, UCHL1, IFNG, STAT1, CLEC7A, IRF8, FCGR3A, TCIRG1, EP300, C3, HSPD1, TNFRSF1A, PTPN1, NLRP1, TP63, TYK2, IFNGR1, IRF7, MALT1, FCGR2A, GP6, ALDOA, AGL, GJA1, RPS14, LDHA, CD40, KIF2A, CYP27B1, HLA-DRB1, TGFB3, CTSD, IL10RB, RDX, ITGB2, AKT1, SMARCA4, ELANE, VDR, CFTR, TP53, FASLG, NOS2, FN1, IL1B, HSPA9, RAF1, LAMP2, IRF1, MAF, NOD2, STAT2, STAT3, TLR2, LCK, IFNGR2, CORO1A, ZAP70, NGF, CD40LG, PRKCD, CHEK2, TLR4, KNG1, CASP10, TGFB1, HBA1, RFXANK, CXCR4, TBP, IGF1R, BCL10, IRF3, NFKB1, ESR1, MT-CO2, RFX5, POMC, AKT3, FADD, FCGR2B, ACTN4, PTPRC, IL6, STAR, CRYAB, APP, MEF2A, HRAS, HLA-DQB1, ACTN2, TF, SELP, SMAD3, IRF6, CR2, CASP8, MTOR, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Alzheimer's diseaseYesN1.07881e-054.48178

ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, ANEMIA, SIDEROBLASTIC, 4, PARAGANGLIOMAS 3, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, SHORT SYNDROME, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PARAGANGLIOMAS 5, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYOPIA 23, AUTOSOMAL RECESSIVE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, ACNE INVERSA, FAMILIAL, 2, FRONTOTEMPORAL DEMENTIA, HYPOPHOSPHATASIA, INFANTILE, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CARCINOID TUMORS, INTESTINAL, AURICULOCONDYLAR SYNDROME 3, SPLIT-HAND/FOOT MALFORMATION 4, ALZHEIMER DISEASE, TYPE 4, ACNE INVERSA, FAMILIAL, 3, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, RENAL TUBULAR DYSGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CARDIOMYOPATHY, HYPERTROPHIC, 3, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, LI-FRAUMENI SYNDROME, COMBINED HYPERLIPIDEMIA, FAMILIAL, LEBER OPTIC ATROPHY AND DYSTONIA, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ALAND ISLAND EYE DISEASE, HYPERPROINSULINEMIA, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, RETICULATE ACROPIGMENTATION OF KITAMURA, SPINOCEREBELLAR ATAXIA 15, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, ESSENTIAL HYPERTENSION, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, ?OPTIC ATROPHY 9, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, LEBER OPTIC ATROPHY, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, AURICULOCONDYLAR SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, LIMB-MAMMARY SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, BURKITT LYMPHOMA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, HAY-WELLS SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, IMMUNODEFICIENCY 36, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, CONE-ROD DYSTROPHY, X-LINKED, 3, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, TIMOTHY SYNDROME, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, ALZHEIMER DISEASE-2, ACNE INVERSA, FAMILIAL, 1, LIPOPROTEIN LIPASE DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, QUESTION MARK EARS, ISOLATED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLIOMA SUSCEPTIBILITY 1, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, HYPOKALEMIC PERIODIC PARALYSIS 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ADRENAL CORTICAL CARCINOMA, DARIER DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MALFORMATION OF THE HEART, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIC, WOLCOTT-RALLISON SYNDROME, INFANTILE CEREBELLAR-RETINAL DEGENERATION, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HYPOPHOSPHATASIA, CHILDHOOD, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ADULT SYNDROME, THROMBOCYTOPENIA 4, LONG QT SYNDROME 14, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, PICK DISEASE, PARAGANGLIOMAS 4, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MYOGLOBINURIA, RECURRENT, SEA-BLUE HISTIOCYTE DISEASE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CARDIOMYOPATHY, DILATED, 1V, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, ACHROMATOPSIA 7, ACROKERATOSIS VERRUCIFORMIS, BRODY MYOPATHY, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

120

CALM1, APOE, CAV1, MYC, TPM1, NDUFA11, CYCS, BCAP31, NDUFA1, AGT, CDK5, CSNK1D, EDN1, COX6B1, NDUFB11, NDUFS8, MT-CO3, FADD, WNK1, CACNA1D, COX8A, NDUFA12, UQCRB, MT-ND2, ADAM10, VLDLR, GNAQ, ERBB3, CASP8, FAS, NOS3, ATP2A1, CABP4, LRP1, TNF, RYR1, SDHC, PSEN1, NFKBIA, NCSTN, CACNA1F, FANCC, ITPR1, NDUFS2, FOXO1, TNFRSF1A, MT-CYB, UQCRQ, NDUFA9, RPS6KA3, TP63, NDUFA10, INS, PSENEN, IGF1, MT-CO1, ADAM17, ALPL, NDUFB3, GRIN2A, MT-ATP6, HSD17B10, COX6A1, SDHD, PSEN2, NDUFS7, GRIN2B, RDX, NDUFA2, AKT1, AKAP9, ITPR2, NDUFS1, UQCRC2, EGFR, ATP5A1, MT-ND1, LRPAP1, SNCA, IL1B, HSPA9, EFNB1, RAF1, ITPR3, DDOST, KAT5, RUNX2, CYC1, NDUFV1, NDUFS3, NGF, PRKCD, NOS2, MT-ND4, SDHA, LPL, EIF2AK3, PLCB1, MT-CO2, CACNA1C, NOTCH1, NDUFS4, NDUFV2, TP53, NDUFB9, COX4I2, CACNA1S, NDUFS6, APP, ATF6, ACO2, ACTN2, MAPT, CALR, COX7B, ATP2A2, SDHB, PLCB4, MTOR, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Parkinson's diseaseYesN0.0008206484.85110

MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, ANEMIA, SIDEROBLASTIC, 4, PARAGANGLIOMAS 3, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, ONCOCYTOMA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, {PARKINSON DISEASE 8}, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PARAGANGLIOMAS 5, IMMUNODEFICIENCY 38, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, DYSTONIA-11, MYOCLONIC, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, CARCINOID TUMORS, INTESTINAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, AORTIC VALVE DISEASE 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, PSEUDOHYPOPARATHYROIDISM IA, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEBER OPTIC ATROPHY AND DYSTONIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, HYPERPROINSULINEMIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, ?OPTIC ATROPHY 9, PARKINSONISM-DYSTONIA, INFANTILE, PARKINSON DISEASE 1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, OVARIAN HYPERSTIMULATION SYNDROME, NEPHROTIC SYNDROME, TYPE 8, LEBER OPTIC ATROPHY, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, OSSEOUS HETEROPLASIA, PROGRESSIVE, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, OVARIAN RESPONSE TO FSH STIMULATION, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SEGAWA SYNDROME, RECESSIVE, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, OVARIAN DYSGENESIS 1, DYSTONIA 25, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, VENTRICULAR TACHYCARDIA, IDIOPATHIC, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, {PARKINSON DISEASE 18}, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, PARKINSON DISEASE 6, EARLY ONSET, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MENTAL RETARDATION, X-LINKED 19, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, PARKINSON DISEASE 4, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, INFANTILE CEREBELLAR-RETINAL DEGENERATION, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?FIBROMATOSIS, GINGIVAL, 1, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, THROMBOCYTOPENIA 4, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, PARAGANGLIOMAS 4, PARKINSON DISEASE, JUVENILE, TYPE 2, MYOGLOBINURIA, RECURRENT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PROTEUS SYNDROME, SOMATIC

92

PARK7, ADRB2, PRKACA, NDUFA11, GNAS, MT-CO3, BCAP31, ATP6V1B1, NDUFA1, GNAI3, CDK5, SLC6A3, UBA1, CTNNB1, UBB, COX6B1, SDHC, NDUFB11, TH, NDUFS8, CYCS, SOS1, ARHGDIA, COX8A, UQCRB, GNAI2, DRD2, ISG15, CCND1, TPM3, MT-ND6, EIF4G1, FSHR, PRKACG, SNCAIP, MT-ND2, SUCLA2, ITPR1, NDUFA2, MT-CYB, UQCRQ, NDUFA9, MT-ND5, RPS6KA3, ADCY5, NDUFA10, INS, MT-CO1, UCHL1, NDUFB3, MT-ATP6, NDUFA12, LRRK2, SDHD, NDUFS7, AKT1, AXIN1, NDUFS1, PARK2, UQCRC2, ATP5A1, SLC25A4, MT-ND1, SNCA, HSPA9, DDOST, MT-ND3, COX6A1, COX7B, NDUFV1, NDUFS3, NGF, PINK1, MT-ND4, SDHA, GNAL, MT-CO2, NDUFS4, NDUFV2, NDUFB9, ACTN4, COX4I2, PCNA, NDUFS6, GRIN2B, MT-ND4L, ACO2, SMAD6, CYC1, SDHB, GPD1L, NDUFS2

1, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
PertussisYesN4.92143e-075.16134

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PITUITARY DEPENDENT HYPERCORTISOLISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, IMMUNODEFICIENCY 15, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, DYSTONIA-11, MYOCLONIC, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CORNEAL DYSTROPHY, CONGENITAL STROMAL, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DEAFNESS, AUTOSOMAL RECESSIVE 68, NEUTROPENIA, CYCLIC, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEUKODYSTROPHY, HYPOMYELINATING, 4, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INCONTINENTIA PIGMENTI, C3 DEFICIENCY, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, C2 DEFICIENCY, CINCA SYNDROME, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, MUCKLE-WELLS SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, GLAUCOMA 1A, PRIMARY OPEN ANGLE, LONG QT SYNDROME 14, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, BURKITT LYMPHOMA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, LI-FRAUMENI SYNDROME, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 14, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, KAPPA LIGHT CHAIN DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, BANNAYAN-RILEY-RUVALCABA SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ADRENAL CORTICAL CARCINOMA, PLATELET GLYCOPROTEIN IV DEFICIENCY, AURICULOCONDYLAR SYNDROME 1, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, {LEPROSY, SUSCEPTIBILITY TO}, PLASMA FIBRONECTIN DEFICIENCY, ?IMMUNODEFICIENCY 22, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE XI, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ANGIOEDEMA, HEREDITARY, TYPES I AND II, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, C4A DEFICIENCY, C1Q DEFICIENCY, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 12, LEUKOCYTE ADHESION DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, AORTIC ANEURYSM, FAMILIAL THORACIC 6, COMPLEMENT FACTOR I DEFICIENCY, MASP2 DEFICIENCY, 3MC SYNDROME 1, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, QUEBEC PLATELET DISORDER, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, [ECULIZUMAB, POOR RESPONSE TO], THROMBOCYTOPENIA 5, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

85

CALM1, FASLG, SFTPA1, APP, SFTPA2, NFKB1, DRD2, C1QA, MASP1, IL10, CASP8, C2, CD46, RUNX1, PTEN, IRF1, LDHA, FLT4, KNG1, IKBKG, C3, LCK, C1QC, C1R, CD40LG, VCP, SPG7, LEP, AGT, TGFB1, IGKC, GNAI3, ESR1, CDK5, IRF3, SELP, ERBB3, PIK3CD, ITGB2, AKT1, MYOC, ELANE, C5, PLAU, B2M, MAFB, IL6, CFI, HTR1A, JAK2, C1QB, C4A, STAT1, MASP2, IKBKB, CD40, DCN, NOS2, TLR4, T, CD36, TP53, HSPD1, FN1, CSNK1D, ETV6, EGFR, IL12B, S1PR2, NLRC4, ACTA2, MYC, IFNG, SERPING1, IL1B, IRF8, POMC, CFL2, TNF, STAT3, NLRP3, GNAI2, TLR2, IRS1, MYD88

1, 10, 11, 12, 14, 15, 16, 17, 19, 2, 20, 21, 3, 4, 5, 6, 7, 8, 9, X0
LegionellosisYesN0.02882765.74103

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, BLAU SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SUPRAVALVAR AORTIC STENOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MYXOMA, INTRACARDIAC, RENAL TUBULAR DYSGENESIS, ATRIOVENTRICULAR SEPTAL DEFECT 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, C3 DEFICIENCY, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 10, SYNDACTYLY, TYPE III, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NEUTROPENIA, CYCLIC, KERATOSIS, SEBORRHEIC, SOMATIC, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, HUNTINGTON DISEASE, CHYLOMICRON RETENTION DISEASE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BURKITT LYMPHOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, EPIDERMAL NEVUS, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, COMMON VARIABLE IMMUNODEFICIENCY 1, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, KAPPA LIGHT CHAIN DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, CLOVE SYNDROME, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, HYPERPARATHYROIDISM, NEONATAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {LEPROSY, SUSCEPTIBILITY TO}, PULMONARY HYPERTENSION, PRIMARY, 3, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, INCONTINENTIA PIGMENTI, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, HYPOPLASTIC LEFT HEART SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, LEUKOCYTE ADHESION DEFICIENCY, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, CARNEY COMPLEX, TYPE 1, MYHRE SYNDROME, THROMBOCYTOPENIA 4, HYPOBETALIPOPROTEINEMIA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, IMMUNODEFICIENCY, COMMON VARIABLE, 12, PROTEUS SYNDROME, SOMATIC

51

APOB, APP, CAV1, NGF, NFKB2, IL10, MYC, TLR4, IKBKG, CYCS, CD40LG, VCP, NLRC4, AGT, IL12B, IGKC, STAT1, NFKB1, CD46, LEP, PRKAR1A, TNFRSF1A, AKT2, C3, AKT1, JAK2, ELANE, CCND1, GJA1, IL6, NFKBIA, HLA-C, HTT, ITGB2, IKBKB, CASP8, EEF1A2, EP300, PIK3CA, HSPD1, HRAS, IL1B, CASR, NLRP1, SMAD4, IRF1, TNF, NOD2, TLR2, SAR1B, MYD88

1, 10, 11, 12, 14, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Aminoacyl-tRNA biosynthesisYesN0.002817566.6452

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2N, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?INFANTILE LIVER FAILURE SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2D, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, GLYCINE ENCEPHALOPATHY, USHER SYNDROME TYPE 3B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 9, LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE, PONTOCEREBELLAR HYPOPLASIA TYPE 2D, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, MYHRE SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, INTERSTITIAL LUNG AND LIVER DISEASE, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), ?PERRAULT SYNDROME 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), PERRAULT SYNDROME 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, ?CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VA, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, LEUKODYSTROPHY, HYPOMYELINATING, 3, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, DEAFNESS, AUTOSOMAL RECESSIVE 89

35

QARS, YARS2, KRT8, AIMP1, LARS, SMAD4, DARS2, DARS, CARS2, IARS2, CAD, RARS, NARS2, GLDC, GARS, AARS, HARS2, MARS, CPS1, EARS2, VARS2, KARS, YARS, SEPSECS, MARS2, TARS2, HARS, HSPD1, POLG, RARS2, SARS2, LARS2, FARS2, MTFMT, AARS2

1, 11, 12, 13, 15, 16, 18, 19, 2, 3, 4, 5, 6, 7, 90
Allograft rejectionNoN0.001434966.4129

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, THROMBOCYTHEMIA 3, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 43, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {CELIAC DISEASE, SUSCEPTIBILITY TO}

23

PRF1, IL2RA, B2M, HLA-C, CD40, FAS, IL12B, CD40LG, TNF, HLA-DRB1, HLA-B, POMC, IFNG, TRAC, IL10, JAK2, FASLG, CALR, HLA-G, HLA-DQB1, SPRY2, IRF1, HLA-DQA1

1, 10, 12, 13, 14, 15, 19, 2, 20, 5, 6, 9, X0
Jak-STAT signaling pathwayYesN7.1783e-084.59190

?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, MULTIPLE FIBROADENOMAS OF THE BREAST, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, ?NEUTROPHILIA, HEREDITARY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, IMMUNODEFICIENCY 38, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, KOWARSKI SYNDROME, SUPRAVALVAR AORTIC STENOSIS, ?HYPERPROLACTINEMIA, TOURETTE SYNDROME, {GILLES DE LA TOURETTE SYNDROME, SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA, X-LINKED 1, LARON DWARFISM, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, LOEYS-DIETZ SYNDROME 3, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, ACUTE MYELOID LEUKEMIA, M6 TYPE, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, IMMUNODEFICIENCY 35, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, DILATED, 1NN, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COLD-INDUCED SWEATING SYNDROME 2, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, HYPERPROINSULINEMIA, HAJDU-CHENEY SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, ESSENTIAL HYPERTENSION, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, C2 DEFICIENCY, SYNDACTYLY, TYPE III, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, KERATOSIS, SEBORRHEIC, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, BURKITT LYMPHOMA, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, LEGIUS SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, IMMUNODEFICIENCY 30, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, IMMUNODEFICIENCY 36, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, EMBERGER SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?IMMUNODEFICIENCY 37, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, ?IMMUNODEFICIENCY 45, WHIM SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GLIOMA SUSCEPTIBILITY 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, GROWTH HORMONE INSENSITIVITY, PARTIAL, TUBEROUS SCLEROSIS 2, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, ALAGILLE SYNDROME 2, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LISSENCEPHALY 3, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, CLOVE SYNDROME, SOMATIC, AGAMMAGLOBULINEMIA 6, INFANTILE MYOFIBROMATOSIS 1, AYME-GRIPP SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, EHLERS-DANLOS SYNDROME, TYPE 3, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, KOSAKI OVERGROWTH SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, THROMBOCYTHEMIA 2, METACHONDROMATOSIS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, ?FIBROMATOSIS, GINGIVAL, 1, MYHRE SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAGET DISEASE OF BONE 3, BRACHYDACTYLY, TYPE A2, DEAFNESS, AUTOSOMAL RECESSIVE 39, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, CATARACT 21, MULTIPLE TYPES, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

116

PARK7, MYC, SQSTM1, MYD88, BMPR1A, AGT, IRF7, HDC, IL7R, BTK, IL4R, AKT2, IL21R, IL10RA, PIK3CA, PRF1, PDGFRB, IGF1, CREBBP, CD79B, IL2RG, ERBB2, CSF2RB, RUNX1, IL10, TUBA1A, EGFR, PIK3R5, ISG15, IFNAR2, IL12B, NOS3, MPL, IL11RA, TNF, GATA2, THPO, LEP, GHR, PIK3CD, IFNG, CBL, C2, SPRED1, STAT1, IRF8, EP300, IRS1, SPRY2, PTPN1, STAT3, TYK2, INS, IFNGR1, SOS2, GATA1, GJA1, IL2RA, SMAD4, CD40, IL12RB1, CD40LG, IL10RB, BMP2, FOXP3, AKT1, CCND2, KAT5, IRS2, HGF, IL21, RAF1, GH1, OSMR, IRF1, MAF, STAT2, RUNX2, SELP, CLCF1, LCK, CSF3R, IRF5, IFNGR2, ZAP70, NGF, PRKCD, NOS2, TLR4, PIK3R2, TGFB1, PTPN11, CXCR4, JAK3, BCL10, IRF3, SPRY4, PRLR, NOTCH1, AKT3, SOS1, IL13, CCND1, IL6, LIFR, PCNA, HRAS, HLA-C, EPOR, SMAD3, NOTCH2, ESR1, KDR, JAK2, MTOR, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Nervous systemYesN8.55868e-072.47650

ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, LONG QT SYNDROME 12, SEIZURES, BENIGN NEONATAL, TYPE 2, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, DIAMOND-BLACKFAN ANEMIA 9, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ALZHEIMER DISEASE, TYPE 4, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 38, DESMOID DISEASE, HEREDITARY, PULMONARY VENOOCCLUSIVE DISEASE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, RETINITIS PIGMENTOSA, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, DYSTONIA-11, MYOCLONIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, FRONTOTEMPORAL DEMENTIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ?PROGESTERONE RESISTANCE, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, MANDIBULOACRAL DYSPLASIA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14}, RENAL TUBULAR DYSGENESIS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATRIAL FIBRILLATION, FAMILIAL, 3, LEUKODYSTROPHY, HYPOMYELINATING, 11, HYPOPHOSPHATASIA, CHILDHOOD, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, JOUBERT SYNDROME 5, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CARDIOMYOPATHY, DILATED, 3B, INCONTINENTIA PIGMENTI, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, BLEEDING DISORDER, PLATELET-TYPE, 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, AORTIC ANEURYSM, FAMILIAL THORACIC 8, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, SYNDACTYLY, TYPE III, NAXOS DISEASE, BRUNNER SYNDROME, FAMILIAL COLORECTAL CANCER, DOWLING-DEGOS DISEASE 1, OVARIAN HYPERSTIMULATION SYNDROME, LONG QT SYNDROME 14, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, LEBER OPTIC ATROPHY, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1B, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, MYOPATHY, MYOFIBRILLAR, 5, HAY-WELLS SYNDROME, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, LONG QT SYNDROME 1, KEPPEN-LUBINSKY SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?DYSTONIA 23, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, BRACHYDACTYLY, TYPE E2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ATRIAL SEPTAL DEFECT 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MUENKE SYNDROME, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, OPSISMODYSPLASIA, ?EPILEPSY, FAMILIAL TEMPORAL LOBE, 8, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, GLAUCOMA 1A, PRIMARY OPEN ANGLE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, TOOTH AGENESIS, SELECTIVE, 1, WITH OR WITHOUT OROFACIAL CLEFT, CARDIOMYOPATHY, DILATED, 1A, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, COLE-CARPENTER SYNDROME 2, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, DICARBOXYLIC AMINOACIDURIA, HYPERALDOSTERONISM, FAMILIAL, TYPE III, MYOPATHY, DISTAL, TATEYAMA TYPE, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, METACHONDROMATOSIS, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?CARDIOMYOPATHY, DILATED, 2A, LEUKEMIA, CHRONIC MYELOID, SOMATIC, MYOCLONIC-ATONIC EPILEPSY, {PANIC DISORDER, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PICK DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, CARDIOMYOPATHY, DILATED, 1V, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, GLUTAMINE DEFICIENCY, CONGENITAL, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, SENIOR-LOKEN SYNDROME 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, SPINOCEREBELLAR ATAXIA 14, AMYOTROPHIC LATERAL SCLEROSIS 19, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, LISSENCEPHALY 5, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NOONAN SYNDROME 7, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CARDIOMYOPATHY, DILATED, 1NN, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ALAND ISLAND EYE DISEASE, ?IMMUNODEFICIENCY 22, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, MUSCULAR DYSTROPHY, CONGENITAL, CARDIOMYOPATHY, HYPERTROPHIC, 12, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, GLYCINE ENCEPHALOPATHY, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, NOONAN SYNDROME 9, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, PRIMARY PULMONARY HYPERTENSION, WRINKLY SKIN SYNDROME, ?SPINOCEREBELLAR ATAXIA 41, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, PSEUDOHYPOALDOSTERONISM, TYPE I, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, OTOPALATODIGITAL SYNDROME, TYPE I, ENDOCRINE-CEREBROOSTEODYSPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, MALFORMATION OF THE HEART, MALOUF SYNDROME, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SEGAWA SYNDROME, RECESSIVE, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, CLEFT PALATE, ISOLATED, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME 2, {MELANOMA, CUTANEOUS MALIGNANT, 2}, COMMON VARIABLE IMMUNODEFICIENCY 1, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ADRENAL CORTICAL CARCINOMA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DYSTONIA 25, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE VII, PULMONARY HYPERTENSION, PRIMARY, 3, HYPOCHONDROPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 17, MOYAMOYA 6 WITH ACHALASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?N SYNDROME, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, KOSAKI OVERGROWTH SYNDROME, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, PIEBALDISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, IRIDOGONIODYSGENESIS, TYPE 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, PAPILLARY THYROID CARCINOMA, HETEROTOPIA, PERIVENTRICULAR, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, DIABETES INSIPIDUS, NEPHROGENIC, ADULT SYNDROME, OVARIAN DYSGENESIS 1, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, EPISODIC ATAXIA, TYPE 6, GABA-TRANSAMINASE DEFICIENCY, HYPEREKPLEXIA HEREDITARY, HEART-HAND SYNDROME, SLOVENIAN TYPE, OVARIAN RESPONSE TO FSH STIMULATION, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 25, NEUROCUTANEOUS MELANOSIS, SOMATIC, ?MYASTHENIC SYNDROME, CONGENITAL, 18, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CARDIOMYOPATHY, DILATED, 1U, AU-KLINE SYNDROME, FAILURE OF TOOTH ERUPTION, PRIMARY, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], PULMONARY VENOOCCLUSIVE DISEASE 2, ACROKERATOSIS VERRUCIFORMIS, BRODY MYOPATHY, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, PITUITARY ADENOMA, PROLACTIN-SECRETING, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, LONG QT SYNDROME 13, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, DEJERINE-SOTTAS DISEASE, CONGENITAL DIAPHRAGMATIC HERNIA, FRONTOMETAPHYSEAL DYSPLASIA, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, AORTIC VALVE DISEASE 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SPINOCEREBELLAR ATAXIA 21, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, PEROXISOME BIOGENESIS DISORDER 2B, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, ESSENTIAL HYPERTENSION, HYPERPROINSULINEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PARKINSONISM-DYSTONIA, INFANTILE, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, GLIOMA SUSCEPTIBILITY 1, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 34, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, AXENFELD-RIEGER SYNDROME, TYPE 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, LIMB-MAMMARY SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CHOROID PLEXUS PAPILLOMA, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE I, JERVELL AND LANGE-NIELSEN SYNDROME 1, ?PRECOCIOUS PUBERTY, CENTRAL, 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, LEFT VENTRICULAR NONCOMPACTION 7, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, VISCERAL MYOPATHY, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, HARTNUP DISORDER, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, SMALL CELL CANCER OF THE LUNG, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, TANGIER DISEASE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, VENTRICULAR SEPTAL DEFECT 1, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, NASU-HAKOLA DISEASE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, {EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO}, {EPILEPSY, IDIOPATHIC GENERALIZED, 10}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMINOGLYCINURIA, DIGENIC, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, HYPOPLASTIC LEFT HEART SYNDROME 1, AGAMMAGLOBULINEMIA 4, HOLOPROSENCEPHALY 11, ?CATARACT 30, PULVERULENT, 46XY SEX REVERSAL 6, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, PANCREATIC CANCER/MELANOMA SYNDROME, 46,XX SEX REVERSAL, TYPE 2, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, BRACHYDACTYLY, TYPE A1, D, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, SPINOCEREBELLAR ATAXIA 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, ATRIAL FIBRILLATION, FAMILIAL, 9, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, PARKINSON DISEASE, JUVENILE, TYPE 2, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {BLEPHAROSPASM, PRIMARY BENIGN}, RING DERMOID OF CORNEA, MASA SYNDROME, CRASH SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, THROMBOCYTOPENIA 5, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ACHROMATOPSIA 7, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, THANATOPHORIC DYSPLASIA, TYPE II, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, SPINOCEREBELLAR ATAXIA 5, FRASER SYNDROME, CONE-ROD DYSTROPHY, X-LINKED, 3, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, EPILEPSY, PROGRESSIVE MYOCLONIC 7, TREACHER COLLINS SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, SHORT SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, ?IMMUNODEFICIENCY 37, POLYCYTHEMIA VERA, SOMATIC, GLUCOCORTICOID RESISTANCE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ZIMMERMANN-LABAND SYNDROME 2, BARAITSER-WINTER SYNDROME 2, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, [NOVELTY SEEKING PERSONALITY], RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HUTCHINSON-GILFORD PROGERIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, USHER SYNDROME, TYPE IJ, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SUPRAVALVAR AORTIC STENOSIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, EPISODIC ATAXIA, TYPE 2, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, ACNE INVERSA, FAMILIAL, 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, ?DEAFNESS, AUTOSOMAL DOMINANT 68, RUBINSTEIN-TAYBI SYNDROME, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, TRIGONOCEPHALY 1, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, HUNTINGTON DISEASE, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, ATRIAL FIBRILLATION, FAMILIAL, 7, OCULODENTODIGITAL DYSPLASIA, PERRY SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, CATSHL SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 4, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, KERATOSIS, SEBORRHEIC, SOMATIC, NEPHROTIC SYNDROME, TYPE 8, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, JACKSON-WEISS SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, SPINOCEREBELLAR ATAXIA 6, MAST CELL DISEASE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPERGLYCINURIA, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 2A, SHORT QT SYNDROME 2, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, THROMBOCYTHEMIA 3, MENTAL RETARDATION, X-LINKED 41, CORNELIA DE LANGE SYNDROME 4, ALZHEIMER DISEASE-2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, IMMUNODEFICIENCY 33, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PLATELET GLYCOPROTEIN IV DEFICIENCY, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, HYPEREKPLEXIA 3, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, ALCOHOL DEPENDENCE, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LATHOSTEROLOSIS, {LEPROSY, SUSCEPTIBILITY TO}, DARIER DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LISSENCEPHALY 3, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, GLAUCOMA 1, OPEN ANGLE, E, INFANTILE MYOFIBROMATOSIS 1, DEAFNESS, AUTOSOMAL RECESSIVE 48, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, BLEEDING DISORDER, PLATELET-TYPE, 11, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, GRISCELLI SYNDROME, TYPE 1, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, ANDROGEN INSENSITIVITY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 2, FEBRILE SEIZURES, FAMILIAL, 3A, MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, ALEXANDER DISEASE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, EIKEN SYNDROME, PAGET DISEASE OF BONE 3, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, THROMBOCYTOPENIA 4, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, HAMAMY SYNDROME, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ATAXIA-OCULOMOTOR APRAXIA 3, IMMUNODEFICIENCY 46, MYOGLOBINURIA, RECURRENT, LOEYS-DIETZ SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 7, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SMITH-KINGSMORE SYNDROME

399

CA2, CALM1, APOE, LAMB1, FGFR1, TSC2, CYP2C19, CUL3, ATP6V1B1, VMA21, KCNH2, AKT2, RANBP2, RAB7A, JPH1, DNM2, WNK1, POR, CREBBP, SLC6A19, RAF1, ERBB3, ISG15, GNAS, PICALM, MTOR, TNNI3, LEP, PIK3CD, CBL, IRAK3, NR1I3, JAK2, AP1S2, MIB1, ITPR1, MT-CYB, T, NTF3, GAD1, PPP2R2B, GPD1, HTR2A, TP63, TYK2, KCNC1, CAV3, GP6, GNAI3, CTNNB1, IL2RA, GRIN2A, GABBR2, SMAD4, DVL3, ETV6, CEP290, PSEN2, SLC6A5, PITX2, SLC6A3, GLDC, PPP2R1A, AKT1, KAT5, AIP, KCNA2, KCNQ3, LRPAP1, IL1B, EFNB1, PPP2R1B, ECHS1, POMC, POLA1, GNAQ, GNAO1, HNRNPK, INPPL1, KNG1, PIK3R2, PTPN11, PDE4D, COMT, PLCB1, STAT3, AP4M1, SNRNP200, GATA4, BDNF, SMAD6, CHAT, ATF6, EPS8, ATP2A2, PEX5, IRX5, MYC, PIK3CA, PSEN1, GFAP, SPTAN1, CYCS, SOS1, TYROBP, ARHGDIA, IRS1, SLC6A4, MAOA, SHOC2, DDC, CNTN2, TRPC3, MAP2K2, GABRD, ADCY6, SLC17A8, HOMER2, NOTCH1, ATP2A1, CABP4, CYP3A5, NPM1, EDNRA, MEF2C, SCARB2, MYO18B, KIF5C, FSHR, PTH, SC5D, JUP, TCIRG1, PRKG1, CACNA1A, PPP1R17, RB1, GPHN, BRAF, SNAP25, SOS2, CALR, ALPL, BLNK, IGF1, KRT5, FLT4, CD36, KLC2, KCNB1, NFKB2, ALOX5, KCNJ5, BMP2, AKAP9, SLC5A7, VDR, DRD3, ATXN1, RUNX1, TP53, EGFR, IKBKB, MAPK8IP1, SNCA, OPTN, KCNQ2, CCND2, SEC24D, GUCY1A3, KIT, TLR2, SCYL1, SH2B3, AR, DLG3, CHRNE, KCNMA1, PPP2R5D, ACTG1, NR3C1, NTRK1, GNAL, CFTR, MAP3K1, CACNA1C, PARK2, SLC2A4, IL6, PCNA, POLR1C, APC, SLC6A1, SORT1, SMAD3, HSPG2, TNF, ESR1, SERPINE1, ABAT, PLCB4, LMNA, CHRNA4, F2, ADCY1, ADRB2, RAD21, SQSTM1, IKBKG, MSX1, AP2S1, ATP6V1B2, AGT, KCNJ6, CDK5, CDH1, TH, CACNA1B, GABRA2, PRKCG, GRID2, PRKACG, ERBB4, ACTA1, DNM1, GRIP1, DRD2, HTR1A, NOS3, CCND1, MAPT, CAD, KIF5A, SHANK3, SCNN1A, ACTN1, ABCA1, NFKBIA, LYZ, SNCAIP, MET, CACNA1F, ICK, EEF1A2, FOXO1, BCR, SPRY2, PTPN1, MYH6, CYP2D6, RPS6KA3, WAS, INS, ABCC8, HAX1, KCNA5, GNB4, PFKM, RPS14, PITX3, CSRP3, SYN1, GAL, SNTA1, GNA11, GRIN2B, RDX, CCL2, TUBB3, ITPR2, ATP5A1, ALOX12B, DCTN1, PTS, SCN1A, RPS10, EDN1, TSHR, PTEN, FGFR3, PIK3R5, RYR2, GABRG2, NRAS, KCNQ1, PRKCD, NOS2, TLR4, EIF2B1, BCL10, STXBP1, ANK3, TBP, TGFB1, GRM6, BAX, SLC1A1, CYP1B1, CACNA1S, ACD, APP, GRM1, PTH1R, CDON, HRAS, IRS2, CD82, ACTN2, GRIK2, PTPRF, CAV1, DISC1, DRD4, GDI1, COL1A1, SLC1A3, MYO5A, PPARG, AGTR1, ARHGEF9, PTHLH, KISS1R, BTK, CDKN2A, VIM, DARS, TFRC, PDGFRB, CD40, ATP6V0A2, ERBB2, CIB2, TUBA1A, DNAJC5, PLA2G2A, GLUL, LRP1, RYR1, PGR, ARFGEF2, COPA, GNAI2, GNB3, PRX, HTT, AVPR2, TGFBR1, EP300, HCFC1, ADCY5, BMPR2, PLIN1, GJA1, SOX9, MEF2A, MYLK, CASR, DMD, NFKB1, FOXP3, POLR2F, EIF2AK4, KRAS, PRKDC, IGF1R, GABRA1, CYP2C9, MUSK, ITPR3, SLC12A5, CHRM3, AXIN1, LCK, FLNA, MYH11, NGF, HCCS, ATM, CASK, STX1B, PRKACA, INSR, AKT3, PLCG2, DRD5, PDGFRA, L1CAM, FLNC, SPTBN2, KCNJ2, KCNQ4, FASLG, SELE, GNRH1, NR0B2, BMPR1B, KDR, CACNA1D, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Excretory systemYesN4.01439e-074.35252

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, ?MIRROR MOVEMENTS 3, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?FIBROMATOSIS, GINGIVAL, 1, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, LONG QT SYNDROME 15, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 38, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, WAARDENBURG SYNDROME, TYPE 4A, GLUCOCORTICOID RESISTANCE, NEPHROLITHIASIS, TYPE I, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ZIMMERMANN-LABAND SYNDROME 2, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CULLER-JONES SYNDROME, SPINOCEREBELLAR ATAXIA 14, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, DYSTONIA-11, MYOCLONIC, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, DENT DISEASE, SPHEROCYTOSIS, TYPE 4, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SPHEROCYTOSIS, TYPE 1, SUPRAVALVAR AORTIC STENOSIS, DIABETES INSIPIDUS, NEPHROGENIC, AURICULOCONDYLAR SYNDROME 3, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, RETINITIS PIGMENTOSA 17, ALPHA-2-MACROGLOBULIN DEFICIENCY, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, NEUROFIBROMATOSIS, FAMILIAL SPINAL, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, COFFIN-LOWRY SYNDROME, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, SPINOCEREBELLAR ATAXIA 21, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, PEPCK DEFICIENCY, MITOCHONDRIAL, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS-NOONAN SYNDROME, LEPRECHAUNISM, HYPERPROINSULINEMIA, RENAL TUBULAR ACIDOSIS, DISTAL, AD, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, PERRY SYNDROME, SPINOCEREBELLAR ATAXIA 15, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CAPOS SYNDROME, ESSENTIAL HYPERTENSION, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, NEPHROTIC SYNDROME, TYPE 8, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, WRINKLY SKIN SYNDROME, FAMILIAL COLORECTAL CANCER, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ?SPINOCEREBELLAR ATAXIA 41, KERATOSIS, SEBORRHEIC, SOMATIC, PSEUDOHYPOALDOSTERONISM, TYPE I, AURICULOCONDYLAR SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, DYSTONIA-12, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, OSSEOUS HETEROPLASIA, PROGRESSIVE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HYPOMAGNESEMIA 2, RENAL, CHONDRODYSPLASIA, BLOMSTRAND TYPE, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OSTEOGLOPHONIC DYSPLASIA, GRISCELLI SYNDROME, TYPE 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, OVALOCYTOSIS, SA TYPE, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, NOONAN SYNDROME 4, HOLOPROSENCEPHALY-9, OCULOECTODERMAL SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOSPADIAS 1, X-LINKED, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ADRENAL CORTICAL CARCINOMA, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, AURICULOCONDYLAR SYNDROME 1, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, SMALL CELL CANCER OF THE LUNG, SOMATIC, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, EIKEN SYNDROME, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, COWDEN SYNDROME 7, WISKOTT-ALDRICH SYNDROME, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, BARTTER SYNDROME, TYPE 4B, DIGENIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, CRYOHYDROCYTOSIS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, NEUROFIBROMATOSIS, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, APPARENT MINERALOCORTICOID EXCESS, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, PSEUDOHYPOPARATHYROIDISM IA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, LIDDLE SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, DIABETES INSIPIDUS, NEPHROGENIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, BARTTER SYNDROME, TYPE 3, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, ANDROGEN INSENSITIVITY, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WATSON SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ABCD SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HMG-COA SYNTHASE-2 DEFICIENCY, NOONAN SYNDROME 9, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, LONG QT SYNDROME 14, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, HYPOPHOSPHATEMIC RICKETS, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ATAXIA-OCULOMOTOR APRAXIA 3, DEJERINE-SOTTAS DISEASE, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, ATRIAL FIBRILLATION, FAMILIAL, 6, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, IMMUNODEFICIENCY, COMMON VARIABLE, 12, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, FAILURE OF TOOTH ERUPTION, PRIMARY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

133

CALM1, CA2, MPDZ, CAV1, FGFR1, MYC, GNAS, ATP6V1B1, F2, ATP6V1B2, AGT, MYO5A, AGTR1, EDN1, HCFC1, EGR2, AR, RAB7A, ADRB2, DNM2, PIK3CA, WNK1, NF1, ARHGDIA, IRS1, DRD2, IGF1, CREBBP, GNAI2, DYNC2H1, NR3C2, PDGFRB, HMGCS2, PCNA, DNM1, KRAS, TRPC3, SCNN1G, NPPA, ADCY6, CLCN5, ATP1B1, BAX, CA4, MTOR, EDNRA, PRKACG, SCNN1A, ATP1A2, SLC4A4, PIK3CD, CBL, SLC9A3, KCNJ1, PTH, PTH1R, AVPR2, TCIRG1, ITPR1, GLUD1, SLC4A1, ATP6V0A2, PTPN1, RB1, CLCNKB, RPS6KA3, STAT3, SEC23B, INS, SOS2, CALR, REN, GABBR2, ANK1, HSD17B10, SCNN1B, GDNF, KLC2, SYN1, PCK1, NFKB1, HNF1B, FOXP3, EDNRB, HSD11B2, AKT1, GNAQ, VDR, DDX58, WAS, TP53, ATP5A1, DCTN1, SLC9A3R1, A2M, PCK2, BSND, IL1B, PRKCG, GLI2, PIK3R5, DYNC1H1, SCYL1, ISG15, NGF, GNAO1, AQP2, PIK3R2, TGFB1, KCNMA1, DNAL4, ATM, RRAS2, CFTR, AVP, PLCB1, FXYD2, PRKACA, INSR, SOS1, GLUD2, IL6, BDNF, ATP1A3, APP, HRAS, AP2S1, VPS45, NR3C1, ESR1, PIK3R1, KL, PLCB4

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Digestive systemYesN1.36037e-192.68625

{PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, CORNEAL DYSTROPHY, LATTICE TYPE I, PREMATURE OVARIAN FAILURE 7, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPERFERRITINEMIA-CATARACT SYNDROME, PULMONARY ALVEOLAR MICROLITHIASIS, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, ?STICKLER SYNDROME, TYPE V, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE SULFATASE DEFICIENCY, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, PULMONARY VENOOCCLUSIVE DISEASE 1, ACRODERMATITIS ENTEROPATHICA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, RETINITIS PIGMENTOSA, DYSTONIA-11, MYOCLONIC, CARASIL SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 19, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?RETINAL ARTERIES, TORTUOSITY OF, ALPHA-2-MACROGLOBULIN DEFICIENCY, ?STEEL SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, BRUCK SYNDROME 2, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATRIAL FIBRILLATION, FAMILIAL, 3, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, FUHRMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, FAZIO-LONDE DISEASE, MICROVILLUS INCLUSION DISEASE, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, KERATOSIS, SEBORRHEIC, SOMATIC, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, BENIGN FAMILIAL HEMATURIA, ATRANSFERRINEMIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, FANCONI-BICKEL SYNDROME, ANGELMAN SYNDROME, FAMILIAL COLORECTAL CANCER, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA, PRETIBIAL, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], BURKITT LYMPHOMA, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, LONG QT SYNDROME 15, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, LOEYS-DIETZ SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, KLEEFSTRA SYNDROME, [URIC ACID CONCENTRATION, SERUM, QTL1], TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, HEMOCHROMATOSIS, TYPE 4, EIKEN SYNDROME, BRACHYDACTYLY, TYPE A2, MODY, TYPE III, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CARPAL TUNNEL SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, GLYCOGEN STORAGE DISEASE IC, MENTAL RETARDATION, X-LINKED 63, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, HEMOCHROMATOSIS TYPE 1, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, GLAUCOMA 1A, PRIMARY OPEN ANGLE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, MENKES DISEASE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, DICARBOXYLIC AMINOACIDURIA, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, DISTAL, TATEYAMA TYPE, ?DEAFNESS, AUTOSOMAL RECESSIVE 61, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, SED, MAROTEAUX TYPE, RENAL CYSTS AND DIABETES SYNDROME, ?FIBROMATOSIS, GINGIVAL, 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, ABCD SYNDROME, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, DEAFNESS, AUTOSOMAL RECESSIVE 39, METATROPIC DYSPLASIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STICKLER SYNDROME, TYPE III, AGAMMAGLOBULINEMIA 3, DEAFNESS, AUTOSOMAL DOMINANT 13, QUEBEC PLATELET DISORDER, PICK DISEASE, DYSTONIA-12, ?DIARRHEA 7, BRACHYOLMIA TYPE 3, CARDIOMYOPATHY, DILATED, 1V, HETEROTOPIA, PERIVENTRICULAR, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 9, AORTIC ANEURYSM, FAMILIAL THORACIC 4, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, CORNEAL DYSTROPHY, AVELLINO TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, MELNICK-NEEDLES SYNDROME, LEBER CONGENITAL AMAUROSIS 16, EPIDERMOLYSIS BULLOSA PRURIGINOSA, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, AMYOTROPHIC LATERAL SCLEROSIS 19, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, ATRIAL FIBRILLATION, FAMILIAL, 9, HYPOPHOSPHATASIA, INFANTILE, HEPATIC ADENOMA, SOMATIC, SENIOR-LOKEN SYNDROME 5, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, ACUTE MYELOID LEUKEMIA, M6 TYPE, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CARDIOMYOPATHY, DILATED, 1NN, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BILE ACID MALABSORPTION, PRIMARY, FOLATE MALABSORPTION, HEREDITARY, LEUKOENCEPHALOPATHY WITH ATAXIA, LONG QT SYNDROME 6, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DYSTONIA 27, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NOONAN SYNDROME 9, PRIMARY PULMONARY HYPERTENSION, OCCIPITAL HORN SYNDROME, ?SPINOCEREBELLAR ATAXIA 41, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, [HEREDITARY PERSISTENCE OF ALPHA-FETOPROTEIN], HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, DYSTONIA 9, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SEGAWA SYNDROME, RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, LACTASE DEFICIENCY, CONGENITAL, KNOBLOCH SYNDROME 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ADRENAL CORTICAL CARCINOMA, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, SPONDYLOPERIPHERAL DYSPLASIA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ?MYASTHENIC SYNDROME, CONGENITAL, 18, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GLYCOGEN STORAGE DISEASE VII, AMYLOIDOSIS, FINNISH TYPE, ATRIAL STANDSTILL 2, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, COLOBOMA, OCULAR, SPINOCEREBELLAR ATAXIA 17, OSTEOGENESIS IMPERFECTA, TYPE III, BIOTINIDASE DEFICIENCY, IMMUNODEFICIENCY 11, ?PRUNE BELLY SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, TRYPSINOGEN DEFICIENCY, DUBIN-JOHNSON SYNDROME, C4A DEFICIENCY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SESAME SYNDROME, EPITHELIAL RECURRENT EROSION DYSTROPHY, IMMUNODEFICIENCY 42, HYPERPROINSULINEMIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, ERYTHROCYTOSIS, FAMILIAL, 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, TRANSIENT BULLOUS OF THE NEWBORN, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, GALLBLADDER DISEASE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, 3MC SYNDROME 1, AVASCULAR NECROSIS OF THE FEMORAL HEAD, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, CAPOS SYNDROME, LEGG-CALVE-PERTHES DISEASE, CARDIOMYOPATHY, HYPERTROPHIC, 18, ATRIAL FIBRILLATION, FAMILIAL, 6, SEA-BLUE HISTIOCYTE DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 11, AURICULOCONDYLAR SYNDROME 1, CARDIOMYOPATHY, DILATED, 1U, FAILURE OF TOOTH ERUPTION, PRIMARY, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], ACROKERATOSIS VERRUCIFORMIS, BRODY MYOPATHY, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, ?ACAT2 DEFICIENCY, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, CALCIUM OXALATE UROLITHIASIS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, EBD, BART TYPE, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, SYNDACTYLY, TYPE III, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, TRANSCOBALAMIN II DEFICIENCY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, DEJERINE-SOTTAS DISEASE, CONGENITAL DIAPHRAGMATIC HERNIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FRONTOMETAPHYSEAL DYSPLASIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, AORTIC VALVE DISEASE 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE ENCEPHALOPATHY TYPE 2), TOENAIL DYSTROPHY, ISOLATED, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SITOSTEROLEMIA, PULMONARY HYPERTENSION, PRIMARY, 3, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, MOYAMOYA 6 WITH ACHALASIA, AORTIC ANEURYSM, FAMILIAL THORACIC 8, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, ?IMMUNODEFICIENCY 22, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PARKINSONISM-DYSTONIA, INFANTILE, {METABOLIC SYNDROME, PROTECTION AGAINST}, PARKINSON DISEASE 1, CYSTINURIA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FANCONI RENOTUBULAR SYNDROME 2, [FLECK RETINA, FAMILIAL BENIGN], JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, FIBROCHONDROGENESIS 1, BETHLEM MYOPATHY 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, JERVELL AND LANGE-NIELSEN SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?DYSTONIA, JUVENILE-ONSET, VISCERAL MYOPATHY, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 8}, {EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 2}, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CORNEAL DYSTROPHY, GROENOUW TYPE I, SMALL CELL CANCER OF THE LUNG, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, HYPOMAGNESEMIA 1, INTESTINAL, HARTNUP DISORDER, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, SPINOCEREBELLAR ATAXIA 14, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, IMINOGLYCINURIA, DIGENIC, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, FIBROCHONDROGENESIS 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, ?CATARACT 30, PULVERULENT, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ALPHA-FETOPROTEIN DEFICIENCY, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SMED STRUDWICK TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?BLEEDING DISORDER, PLATELET-TYPE, 19, PORENCEPHALY 2, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, MASP2 DEFICIENCY, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CUTIS LAXA, AD, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, LONG QT SYNDROME 1, SPERMATOGENIC FAILURE 8, WAARDENBURG SYNDROME, TYPE 4C, PANCREATIC LIPASE DEFICIENCY, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 9, MARSHALL SYNDROME, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, OSTEOGENESIS IMPERFECTA, TYPE I, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, BROWN-VIALETTO-VAN LAERE SYNDROME 1, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, CZECH DYSPLASIA, LEBER CONGENITAL AMAUROSIS 14, RETINITIS PIGMENTOSA, JUVENILE, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, LYSINURIC PROTEIN INTOLERANCE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, GLUCOCORTICOID RESISTANCE, COLE-CARPENTER SYNDROME 1, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, BARAITSER-WINTER SYNDROME 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, STICKLER SYNDROME, TYPE I, GRISCELLI SYNDROME, TYPE 1, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, SUPRAVALVAR AORTIC STENOSIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, ACNE INVERSA, FAMILIAL, 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, ATRIAL FIBRILLATION, FAMILIAL, 7, OCULODENTODIGITAL DYSPLASIA, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PITUITARY DEPENDENT HYPERCORTISOLISM, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NEUTROPENIA, CYCLIC, ATRIOVENTRICULAR SEPTAL DEFECT 4, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, GLUCOSE/GALACTOSE MALABSORPTION, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, BRACHYDACTYLY, TYPE E2, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, GLYCOGEN STORAGE DISEASE IA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], DEAFNESS, AUTOSOMAL RECESSIVE 53, TUBEROUS SCLEROSIS 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPERGLYCINURIA, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HYPOMAGNESEMIA 2, RENAL, PANCREATIC AGENESIS 1, CAFFEY DISEASE, SHORT QT SYNDROME 2, ?DEAFNESS, X-LINKED 6, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, THROMBOCYTHEMIA 3, MENTAL RETARDATION, X-LINKED 41, ALZHEIMER DISEASE-2, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, STICKLER SYNDROME, TYPE II, CEREBRAL AMYLOID ANGIOPATHY, LI-FRAUMENI SYNDROME, MODY, TYPE I, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?MYOSCLEROSIS, CONGENITAL, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, MACROCEPHALY/AUTISM SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, ?GLYCOPROTEIN IA DEFICIENCY, DARIER DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, PARASTREMMATIC DWARFISM, PCWH SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, EHLERS-DANLOS SYNDROME, TYPE IV, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, ABETALIPOPROTEINEMIA, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BLEEDING DISORDER, PLATELET-TYPE, 11, ALEXANDER DISEASE, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, SNOWFLAKE VITREORETINAL DEGENERATION, CEROID LIPOFUSCINOSIS, NEURONAL, 10, AORTIC ANEURYSM, FAMILIAL THORACIC 7, LYMPHOPROLIFERATIVE SYNDROME 2, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LIPOID ADRENAL HYPERPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ATAXIA-OCULOMOTOR APRAXIA 3, IMMUNODEFICIENCY 46, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, HEMOCHROMATOSIS, TYPE 2B, SMITH-KINGSMORE SYNDROME

401

CA2, CALM1, APOE, MPDZ, MEF2C, NALCN, GNAS, CIITA, COL3A1, FTL, KRIT1, SLC6A3, PCYT1A, KCNH2, B2M, EGR2, IL1B, HNF1A, G6PC, SLC4A4, CREBBP, SLC6A19, PTEN, VLDLR, APOA1, POMC, COL6A2, P4HB, CD79A, DAG1, MTOR, ADCY1, CST3, LEP, BTD, PIK3CD, IFNG, IL10, KCNJ1, JAK2, ITPR1, HSPD1, DDX3X, NTF3, ADRB3, FXYD2, CAV3, DDR2, GABBR2, DVL3, GDNF, PSEN2, SLC19A2, CTSD, CLCN2, PPP2R1A, SLC40A1, AKT1, KAT5, PPIB, SLC5A1, UBE3A, ABCB4, HGF, ACAT2, A2M, CSNK1D, SLC19A1, LRAT, RAF1, CALCR, SCGB1A1, SLC2A1, GIF, SLC9A1, MASP1, AQP5, SLC46A1, KNG1, PIK3R2, PLA2G5, CXCR4, GATA4, RARS, PLCB1, NR4A2, COL5A2, COL6A1, ADCY5, COL4A3, STAR, SLC26A3, BDNF, SMAD6, CD36, CUBN, LIPA, DGAT1, TF, ATP2A2, PDE4D, APOB, MYC, ACTB, GRN, PSEN1, GFAP, SLC2A2, G6PC3, FGA, BAAT, TRPM6, COL4A5, DES, KCNE3, FGG, ERBB2, CAPN3, SLC6A4, RYR2, COL9A1, SOX9, LDHA, MMP2, TRPC3, PLAU, NPPA, ADCY6, HBA1, IL12B, NOTCH1, ATP2A1, SLC19A3, GPI, CD3E, SGCG, KIF5C, PRKACG, PTH, COL4A6, GP6, PRKG1, SI, RB1, FGF23, PLOD2, STAT3, SLC26A5, SNAP25, SOS2, NCF1, APP, ALPL, MYOC, IGF1, FLT4, CTCF, PTH1R, COL4A4, BMP2, HRAS, VDR, FIBP, ATXN1, TP53, LRP2, ELN, SNCA, ATP2B2, SLCO1B1, PRKCG, HK1, PRSS1, ABCB11, GUCY1A3, KCNMA1, ACTG1, ALB, NR5A1, TGFB1, FTH1, CARD11, SLC52A3, CACNA1C, COL6A3, IL6, DCN, PCNA, SLC3A1, SLC10A2, ADA, EPOR, SMAD3, HSPG2, ESR1, ITGA6, GPD1L, PLCB4, SLC34A1, F2, LCT, ADRB2, MUC1, MAG, AGT, GNAI3, EDNRB, CDH1, LIPE, ATP2B3, COL10A1, PIK3CA, ACSL4, COL2A1, ERBB4, SMARCA4, CBL, RB1CC1, EGFR, SLC39A4, NOS3, CCND1, SORT1, TNF, ATP1A2, COL1A2, ITGA2, ABCA1, LYZ, CEL, CD44, DSE, FOXO1, PTPN1, ACVR1, INS, COL11A2, COL7A1, KCNA5, GDI1, PFKM, SLCO1B3, MUC5B, SGCE, KCNN4, ABCG8, KCNMB1, SYN1, RORC, VHL, HNF4A, SLC34A2, GRIN2B, RDX, NR3C1, FN1, TUBB3, ITPR2, ACACA, KLF1, ATP5A1, SLC9A3R1, COL27A1, TRPM7, ABCG2, STXBP1, TRPV4, PIK3R5, GSN, CFTR, SOX10, KCNJ13, SSR4, KCNQ1, PRKCD, NOS2, TLR4, PTGER2, KCNJ10, TBP, ATP7A, COL11A1, ABCG5, AFP, HAMP, KCNE2, SOS1, IL13, SLC1A1, STX11, TRH, COL18A1, TCN2, MFAP5, ACTN2, AGPAT2, HTRA1, PNLIP, CAV1, KISS1, COL9A2, GATA5, ITGB3, TGFBI, MYO5A, PPARG, COL5A1, PTHLH, SLC11A2, EDN1, CTNNB1, BTK, NR1I3, ING1, MYLK2, EFEMP2, MASP2, VIM, HNF1B, PTPN11, TFRC, COL13A1, GNAI2, ABCC2, COL9A3, IRS1, ANXA5, GRM1, WNT7A, HAX1, PRSS2, MTTP, ATP1B1, PLA2G2A, PTGIS, CACNA1D, EPHX1, AKT2, COL1A1, CDKN1B, SLC9A3, CD27, C4A, STAT1, HTT, RELN, TGFBR1, EP300, SLC7A7, IQCB1, BMPR2, TTR, GJA1, COL4A1, SLC7A9, SGCA, COL17A1, MYLK, CASR, DMD, MYO5B, MUC7, GNAQ, ELANE, MRPL3, IGF1R, LDLR, ATP1A3, MMACHC, SLC37A4, ITPR3, TH, CHRM3, PLN, LMBRD1, NR2F1, SUMF1, LCK, FLNA, MYH11, NGF, COL25A1, RETN, ATM, NFKB1, PRKACA, FXN, INSR, AKT3, UBE2A, COL4A2, KCNJ2, DNAJC3, GNRH1, SELP, NR0B2, ANK2, PDX1, KDR, RYR1, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Circulatory systemYesN3.01771e-083.46360

LONG QT SYNDROME 12, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CARDIOMYOPATHY, HYPERTROPHIC, 2, PULMONARY VENOOCCLUSIVE DISEASE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CARDIOMYOPATHY, DILATED, 1E, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ATRIAL FIBRILLATION, FAMILIAL, 3, LEUKODYSTROPHY, HYPOMYELINATING, 11, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, BLEEDING DISORDER, PLATELET-TYPE, 15, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 18, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, FAMILIAL COLORECTAL CANCER, OVARIAN HYPERSTIMULATION SYNDROME, LONG QT SYNDROME 14, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LEBER OPTIC ATROPHY, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, LONG QT SYNDROME 1, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, INFANTILE NEUROAXONAL DYSTROPHY 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, LONG QT SYNDROME 5, BRACHYDACTYLY, TYPE E2, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, TRIGONOCEPHALY 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ?DYSTONIA 23, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?CATARACT 30, PULVERULENT, METACHONDROMATOSIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?FIBROMATOSIS, GINGIVAL, 1, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ABCD SYNDROME, ?CARDIOMYOPATHY, DILATED, 2A, NOONAN SYNDROME 7, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, PICK DISEASE, JERVELL AND LANGE-NIELSEN SYNDROME 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ?LICHTENSTEIN-KNORR SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, SPINOCEREBELLAR ATAXIA 14, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, PSEUDOHYPOPARATHYROIDISM IC, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MYXOMA, INTRACARDIAC, MEIER-GORLIN SYNDROME 5, RENAL CYSTS AND DIABETES SYNDROME, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ATAXIA-TELANGIECTASIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CARDIOMYOPATHY, DILATED, 1NN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ALAND ISLAND EYE DISEASE, CARDIOMYOPATHY, HYPERTROPHIC, 12, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, NOONAN SYNDROME 9, PRIMARY PULMONARY HYPERTENSION, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, PSEUDOHYPOALDOSTERONISM, TYPE I, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SEGAWA SYNDROME, RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, BRUGADA SYNDROME 1, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, ADRENAL CORTICAL CARCINOMA, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, ESTROGEN RESISTANCE, OVARIAN DYSGENESIS 1, DYSTONIA 25, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BECKER MUSCULAR DYSTROPHY, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE VII, ATRIAL STANDSTILL 2, ?IMMUNODEFICIENCY 22, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, PAPILLARY THYROID CARCINOMA, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ULNAR-MAMMARY SYNDROME, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, OVARIAN RESPONSE TO FSH STIMULATION, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATRIAL FIBRILLATION, FAMILIAL, 6, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, CARDIOMYOPATHY, DILATED, 1U, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, LEOPARD SYNDROME 1, ACROKERATOSIS VERRUCIFORMIS, BRODY MYOPATHY, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, CONGENITAL DIAPHRAGMATIC HERNIA, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ALZHEIMER DISEASE, TYPE 4, AORTIC VALVE DISEASE 2, DEAFNESS, AUTOSOMAL RECESSIVE 68, CARDIOMYOPATHY, HYPERTROPHIC, 3, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MOYAMOYA 6 WITH ACHALASIA, [FLECK RETINA, FAMILIAL BENIGN], ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, CAPOS SYNDROME, ESSENTIAL HYPERTENSION, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, SICK SINUS SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, OSSEOUS HETEROPLASIA, PROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CHOROID PLEXUS PAPILLOMA, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, CONE-ROD DYSTROPHY, X-LINKED, 3, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, ATRIAL SEPTAL DEFECT 5, OCULOECTODERMAL SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, IMMUNODEFICIENCY 14, VISCERAL MYOPATHY, SMALL CELL CANCER OF THE LUNG, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MIRROR MOVEMENTS 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DILATED CARDIOMYOPATHY 1DD, HOLOPROSENCEPHALY 11, LIDDLE SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, 46,XX SEX REVERSAL, TYPE 2, ?BLEEDING DISORDER, PLATELET-TYPE, 19, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, SPINOCEREBELLAR ATAXIA 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LONG QT SYNDROME-3, MASA SYNDROME, CRASH SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, EPISODIC ATAXIA, TYPE 5, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, JERVELL AND LANGE-NIELSEN SYNDROME 1, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, GLUCOCORTICOID RESISTANCE, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, CARDIOFACIOCUTANEOUS SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SUPRAVALVAR AORTIC STENOSIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AURICULOCONDYLAR SYNDROME 3, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, PSEUDOHYPOPARATHYROIDISM IA, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, ACNE INVERSA, FAMILIAL, 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, ATRIAL FIBRILLATION, FAMILIAL, 13, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, KERATOSIS, SEBORRHEIC, SOMATIC, ALTERNATING HEMIPLEGIA OF CHILDHOOD, JACKSON-WEISS SYNDROME, DYSTONIA-12, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MYOPATHY, DISTAL, TATEYAMA TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, HYPOMAGNESEMIA 2, RENAL, OSTEOGLOPHONIC DYSPLASIA, SHORT QT SYNDROME 2, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, CORPUS CALLOSUM, PARTIAL AGENESIS OF, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ATRIAL FIBRILLATION, FAMILIAL, 7, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LATHOSTEROLOSIS, DARIER DISEASE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MYOGLOBINURIA, RECURRENT, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?PRECOCIOUS PUBERTY, CENTRAL, 1, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, BLEEDING DISORDER, PLATELET-TYPE, 11, DIABETES INSIPIDUS, NEPHROGENIC, TREACHER COLLINS SYNDROME 3, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, THROMBOCYTOPENIA 4, AORTIC ANEURYSM, FAMILIAL THORACIC 7, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, RETINAL CONE DYSTROPHY 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ATRIAL FIBRILLATION, FAMILIAL, 10, SMITH-KINGSMORE SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 7, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

221

CALM1, KCNA5, PDE4D, CACNA2D4, FGFR1, CDK5, MYC, DES, PRPH, ADRB2, PRKACA, TPM1, CUL3, SC5D, MT-CO3, PSEN1, ANK2, F2, TBX3, AGT, GNAI3, ATP1A2, COX6A1, PPP1R3A, RANBP2, CALCR, CDH1, KCNH2, RYR2, HNRNPK, MYH7, KISS1R, AKT2, COX6B1, IL1B, VIM, NPR2, ATP2B3, PLA2G6, PRKCH, CACNA1B, SOS1, SCN8A, MYL3, S1PR2, PRKCG, CACNB4, CACNA1D, COX8A, ACTC1, CAPN3, CYC1, GNAI2, RAF1, KCNE1, SOX9, EDNRA, ERBB2, PPP2R5D, ITPR3, KRAS, ERBB3, SCNN1G, NPPA, ADCY6, ATP1B1, GNAS, PLA2G2A, ATP2A1, CABP4, TNF, RYR1, ADCY1, MEF2C, GABBR2, PIK3CA, ACTN1, PIK3CD, PLN, MYLK, KIF5C, FSHR, PRKACG, PTH, GNAQ, CACNA1F, TPM2, CSRP3, CACNB2, PFKM, GP6, CNTN5, PRKG1, CACNA1S, MT-CYB, UQCRQ, CASR, ACTA2, TNNT2, RB1, HCFC1, FXYD2, ADCY5, CYB5R3, BRAF, CDON, SNTA1, BMPR2, PLIN1, CAV3, EDN1, POLR1C, CTNNB1, KCNMA1, ITPR1, IGF1, AGTR1, FOXO1, KCNMB1, TGFB3, SCN1B, SYN1, DMD, GNA11, PLCB4, SLC9A6, PPP2R1A, GRIN2B, HNF1B, HRAS, MTOR, PRKAR1A, AKT1, SCN4B, SLC9A1, KAT5, IGF1R, ATXN1, PRKCD, UQCRC2, ATP1A3, CYCS, PIK3R5, PPP2R1B, CDC6, SNCA, ATP2B2, TRPM7, MAP2K2, AKAP9, AQP2, ECHS1, POMC, TH, GSN, ADA, DDOST, ITPR2, GUCY1A3, STAT3, MYH6, SLC9A3R1, LCK, NRAS, IRS1, CNTN2, KCNQ1, SMAD3, NGF, EP300, NOS2, PPP2R2B, INPPL1, ATP2A2, MYLK2, NOS3, PIK3R2, STXBP1, PLA2G5, SCN5A, SOS2, GNAL, CFTR, PLCB1, NEB, MT-CO2, CACNA1C, PTPN11, AKT3, DLC1, TP53, UQCRB, ATM, ACTN4, IL6, STAR, GCH1, COX4I2, PTHLH, L1CAM, STX11, TRH, APP, MEF2A, ABCC8, EDNRB, DCC, EGFR, EPHX1, ACTN2, SMAD6, COX7B, MYH11, NR3C1, ESR1, TNNI3, MT-CO1, ACTG2, GPD1L, TPM3, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Endocrine systemYesN8.81828e-141.84950

{PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, MULLERIAN APLASIA AND HYPERANDROGENISM, ATROPHODERMA VERMICULATUM, CORNEAL DYSTROPHY, LATTICE TYPE I, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPERFERRITINEMIA-CATARACT SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 20, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, ?GLYCOPROTEIN IA DEFICIENCY, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, IMMUNODEFICIENCY 15, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, DUCHENNE MUSCULAR DYSTROPHY, SELECTIVE T-CELL DEFECT, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, IMMUNODEFICIENCY 38, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, LONG QT SYNDROME 12, LUJAN-FRYNS SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, SPECIFIC GRANULE DEFICIENCY, RETINITIS PIGMENTOSA, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, DYSTONIA-11, MYOCLONIC, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, PANCREATIC AGENESIS 1, THROMBOCYTOPENIA 5, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ?PROGESTERONE RESISTANCE, MULTIPLE SYNOSTOSES SYNDROME 1, ALPHA-2-MACROGLOBULIN DEFICIENCY, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, VAN BUCHEM DISEASE, TYPE 2, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, LEUKODYSTROPHY, HYPOMYELINATING, 11, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, BOHRING-OPITZ SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, PEPCK DEFICIENCY, MITOCHONDRIAL, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, VON WILLEBRAND DISEASE, TYPE 1, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, BLEEDING DISORDER, PLATELET-TYPE, 15, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, CARDIOMYOPATHY, HYPERTROPHIC, 18, AORTIC ANEURYSM, FAMILIAL THORACIC 8, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, EHLERS-DANLOS SYNDROME, TYPE 3, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, CATARACT 16, MULTIPLE TYPES, SYNDACTYLY, TYPE III, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, IMMUNODEFICIENCY 44, COFFIN-SIRIS SYNDROME 3, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, FANCONI-BICKEL SYNDROME, SPLIT-HAND/FOOT MALFORMATION 6, FAMILIAL COLORECTAL CANCER, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, LONG QT SYNDROME 14, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, BURKITT LYMPHOMA, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, MYOPATHY, MYOFIBRILLAR, 5, BRACHYDACTYLY, TYPE A1, PSEUDOHYPOPARATHYROIDISM IA, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, KEPPEN-LUBINSKY SYNDROME, AROMATASE EXCESS SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, {HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, CULLER-JONES SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, ENDOCRINE-CEREBROOSTEODYSPLASIA, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, CARDIOMYOPATHY, DILATED, 1II, BRACHYDACTYLY, TYPE E2, HYPER-IGD SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, NEPHRONOPHTHISIS 15, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ATRIAL SEPTAL DEFECT 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, CALCIUM OXALATE UROLITHIASIS, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, DYSTONIA 9, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, MYOPATHY, MYOFIBRILLAR, 4, MENTAL RETARDATION, X-LINKED 63, KERATITIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, POROKERATOSIS 3, MULTIPLE TYPES, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, TUBEROUS SCLEROSIS-1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, GLAUCOMA 1A, PRIMARY OPEN ANGLE, EXUDATIVE VITREORETINOPATHY 1, FRAGILE X SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, GALACTOSEMIA, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, LIPOPROTEIN LIPASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FILS SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HMG-COA SYNTHASE-2 DEFICIENCY, DICARBOXYLIC AMINOACIDURIA, HYPERALDOSTERONISM, FAMILIAL, TYPE III, MYOPATHY, DISTAL, TATEYAMA TYPE, ?CATARACT 30, PULVERULENT, IMMUNODEFICIENCY 8, CRANIOSYNOSTOSIS, TYPE 2, PLASMA TRIGLYCERIDE LEVEL QTL, LOW, MELNICK-FRASER SYNDROME, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, LATERAL MENINGOCELE SYNDROME, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 1, BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS, TYPE 2, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, CARNEY COMPLEX, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, ABCD SYNDROME, THRYOID DYSHORMONOGENESIS 6, CPT DEFICIENCY, HEPATIC, TYPE II, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, DEAFNESS, AUTOSOMAL RECESSIVE 39, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, NOONAN SYNDROME 7, THYROID DYSHORMONOGENESIS 5, PREMATURE OVARIAN FAILURE 7, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, OSTEOGENESIS IMPERFECTA, TYPE XV, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PICK DISEASE, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, SCHOPF-SCHULZ-PASSARGE SYNDROME, CHEDIAK-HIGASHI SYNDROME, CARDIOMYOPATHY, DILATED, 1V, HETEROTOPIA, PERIVENTRICULAR, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, MULTIPLE FIBROADENOMAS OF THE BREAST, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ?LICHTENSTEIN-KNORR SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, AORTIC ANEURYSM, FAMILIAL THORACIC 4, GLUTAMINE DEFICIENCY, CONGENITAL, ?RETINITIS PIGMENTOSA 67, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?FIBROMATOSIS, GINGIVAL, 1, NON-IMMUNE HYDROPS FETALIS, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ATELOSTEOGENESIS, TYPE I, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, NIJMEGEN BREAKAGE SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WEAVER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?SPINOCEREBELLAR ATAXIA 26, MACHADO-JOSEPH DISEASE, AMYOTROPHIC LATERAL SCLEROSIS 19, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, ?DYSTONIA 23, HYPOPHOSPHATASIA, INFANTILE, ALBINISM, OCULOCUTANEOUS, TYPE III, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ALZHEIMER DISEASE, TYPE 4, PSEUDOPSEUDOHYPOPARATHYROIDISM, MYXOMA, INTRACARDIAC, MEIER-GORLIN SYNDROME 5, LEUKEMIA, CHRONIC MYELOID, SOMATIC, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, POLYDACTYLY, PREAXIAL, TYPE IV, CEREBROTENDINOUS XANTHOMATOSIS, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CARDIOMYOPATHY, DILATED, 1NN, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, HOLOPROSENCEPHALY-9, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, THYROID DYSHORMONOGENESIS 2A, ALAND ISLAND EYE DISEASE, PERIODIC FEVER, FAMILIAL, RETICULATE ACROPIGMENTATION OF KITAMURA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 12, HEMOCHROMATOSIS, TYPE 2B, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NOONAN SYNDROME 9, PRIMARY PULMONARY HYPERTENSION, DENYS-DRASH SYNDROME, ?SPINOCEREBELLAR ATAXIA 41, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, TOOTH AGENESIS, SELECTIVE, 7, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, PSEUDOHYPOALDOSTERONISM, TYPE I, ACNE INVERSA, FAMILIAL, 1, RHEUMATOID ARTHRITIS, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), ALPHA-METHYLACETOACETIC ACIDURIA, TARSAL-CARPAL COALITION SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, OPSISMODYSPLASIA, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, CORNEAL DYSTROPHY, AVELLINO TYPE, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, COFFIN-LOWRY SYNDROME, IMMUNODEFICIENCY 36, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MENTAL RETARDATION, X-LINKED 30/47, QUESTION MARK EARS, ISOLATED, LACTASE DEFICIENCY, CONGENITAL, DEAFNESS, AUTOSOMAL DOMINANT 56, [GLYCEROL QUANTITATIVE TRAIT LOCUS], CLEFT PALATE, ISOLATED, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, MODY, TYPE II, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, VENTRICULAR SEPTAL DEFECT 3, {MELANOMA, CUTANEOUS MALIGNANT, 3}, NEPHROTIC SYNDROME, TYPE 3, MEVALONIC ACIDURIA, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, NEPHROTIC SYNDROME, TYPE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, SPINOCEREBELLAR ATAXIA 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, GLYCEROL KINASE DEFICIENCY, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, HYPERTENSION AND BRACHYDACTYLY SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, HYPERALPHALIPOPROTEINEMIA, [HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL 10], ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, CORNEAL DYSTROPHY, GROENOUW TYPE I, ?MYASTHENIC SYNDROME, CONGENITAL, 18, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, GLYCOGEN STORAGE DISEASE XI, ADRENAL CORTICAL CARCINOMA, OROFACIAL CLEFT 11, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 1, AMYLOIDOSIS, FINNISH TYPE, ATRIAL STANDSTILL 2, FRAGILE X TREMOR/ATAXIA SYNDROME, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, LEFT VENTRICULAR NONCOMPACTION 1, WITH OR WITHOUT CONGENITAL HEART DEFECTS, COLOBOMA, OCULAR, SPINOCEREBELLAR ATAXIA 17, OSTEOGENESIS IMPERFECTA, TYPE III, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, PENDRED'S SYNDROME, BRANCHIOOTIC SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, C4A DEFICIENCY, POLYCYSTIC LIVER DISEASE, INCONTINENTIA PIGMENTI, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, LARSEN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, SECKEL SYNDROME 1, PIEBALDISM, IRIDOGONIODYSGENESIS, TYPE 2, GLYCOGEN STORAGE DISEASE IA, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AVASCULAR NECROSIS OF THE FEMORAL HEAD, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, PAPILLARY THYROID CARCINOMA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), SEGAWA SYNDROME, RECESSIVE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, 3MC SYNDROME 1, ?PARKINSONISM WITH SPASTICITY, X-LINKED, HYPOBETALIPOPROTEINEMIA, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, OVARIAN DYSGENESIS 1, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, GLYCOGEN STORAGE DISEASE 0, MUSCLE, BRACHYDACTYLY, TYPE B1, CAPOS SYNDROME, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, OVARIAN RESPONSE TO FSH STIMULATION, LEGG-CALVE-PERTHES DISEASE, PARIETAL FORAMINA 1, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, NEUROCUTANEOUS MELANOSIS, SOMATIC, HYPERCHYLOMICRONEMIA, LATE-ONSET, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 1, CARDIOMYOPATHY, DILATED, 1U, AU-KLINE SYNDROME, FAILURE OF TOOTH ERUPTION, PRIMARY, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, BRODY MYOPATHY, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MOYAMOYA 6 WITH ACHALASIA, [BONE MINERAL DENSITY VARIABILITY 1], {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, CAMURATI-ENGELMANN DISEASE, ?ACAT2 DEFICIENCY, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, ?MYOFIBROMATOSIS, INFANTILE 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, LONG QT SYNDROME 13, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, DEJERINE-SOTTAS DISEASE, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, CONGENITAL DIAPHRAGMATIC HERNIA, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, AORTIC VALVE DISEASE 2, [SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN], [SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN], {UV-INDUCED SKIN DAMAGE}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, IMMUNODEFICIENCY 43, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, CARDIOMYOPATHY, HYPERTROPHIC, 3, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, PULMONARY HYPERTENSION, PRIMARY, 3, NORUM DISEASE, GLYCOGEN STORAGE DISEASE VI, ANGELMAN SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, HOLOPROSENCEPHALY-3, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, BOOMERANG DYSPLASIA, SPLENIC HYPOPLASIA, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, HYPERPROINSULINEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, FOVEAL HYPOPLASIA 1, PARKINSON DISEASE 1, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, HYPOPLASTIC LEFT HEART SYNDROME 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, PARKINSON DISEASE 4, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ACROCAPITOFEMORAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, AXENFELD-RIEGER SYNDROME, TYPE 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, ?SECKEL SYNDROME 6, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CHOROID PLEXUS PAPILLOMA, SERKAL SYNDROME, PAPILLORENAL SYNDROME, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, CONE-ROD DYSTROPHY, X-LINKED, 3, {PSORIASIS SUSCEPTIBILITY 1}, 3-M SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, GRISCELLI SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 5, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ?IMMUNODEFICIENCY 37, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, INFANTILE MYOFIBROMATOSIS 1, MAST CELL DISEASE, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, XERODERMA PIGMENTOSUM, GROUP C, GLYCOGEN STORAGE DISEASE IXC, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, DEAFNESS, AUTOSOMAL DOMINANT 20/26, GLYCOGEN STORAGE DISEASE 0, LIVER, VISCERAL MYOPATHY, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, ?TETRA-AMELIA SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, SMALL CELL CANCER OF THE LUNG, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, BERGER DISEASE, RENAL CYSTS AND DIABETES SYNDROME, TANGIER DISEASE, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, ODONTOONYCHODERMAL DYSPLASIA, PREMATURE OVARIAN FAILURE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, HARTNUP DISORDER, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, ALAGILLE SYNDROME 2, ACROKERATOSIS VERRUCIFORMIS, FISH-EYE DISEASE, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MYOGLOBINURIA, RECURRENT, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SPINOCEREBELLAR ATAXIA 14, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMINOGLYCINURIA, DIGENIC, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, NEPHROTIC SYNDROME, TYPE 4, GALACTOSE EPIMERASE DEFICIENCY, [PREMATURE CHROMATID SEPARATION TRAIT], AYME-GRIPP SYNDROME, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, KOSAKI OVERGROWTH SYNDROME, OPITZ-KAVEGGIA SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, HYPOPLASTIC LEFT HEART SYNDROME 1, CPT DEFICIENCY, HEPATIC, TYPE IA, PHYTANIC ACID STORAGE DISEASE, 46XY SEX REVERSAL 6, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, MCARDLE DISEASE, 46,XX SEX REVERSAL, TYPE 2, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MYOPATHY, MYOFIBRILLAR, 2, BRACHYDACTYLY, TYPE A1, D, SMED STRUDWICK TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, STICKLER SYNDROME, TYPE I, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, HYPERPROLINEMIA, TYPE I, MASP2 DEFICIENCY, DEAFNESS, AUTOSOMAL RECESSIVE 37, ERYTHROCYTOSIS, FAMILIAL, 2, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, SPERMATOGENIC FAILURE 7, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, FEINGOLD SYNDROME, PALLISTER-HALL SYNDROME, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, ATRIAL FIBRILLATION, FAMILIAL, 9, OHDO SYNDROME, X-LINKED, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, PARKINSON DISEASE, JUVENILE, TYPE 2, SPERMATOGENIC FAILURE 8, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, RING DERMOID OF CORNEA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MASA SYNDROME, CRASH SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, CATARACT 21, MULTIPLE TYPES, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ACHROMATOPSIA 7, LEUKODYSTROPHY, HYPOMYELINATING, 9, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, WOLFF-PARKINSON-WHITE SYNDROME, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, OSTEOGENESIS IMPERFECTA, TYPE I, EPISODIC ATAXIA, TYPE 5, HYPERPARATHYROIDISM 1, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, EMBERGER SYNDROME, CZECH DYSPLASIA, IMMUNODEFICIENCY 21, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, VENTRICULAR SEPTAL DEFECT 1, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CONE-ROD DYSTROPHY 2, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, GLUCOCORTICOID RESISTANCE, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, BARAITSER-WINTER SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE IA, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, [NOVELTY SEEKING PERSONALITY], MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, GILLESPIE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, AGAMMAGLOBULINEMIA, X-LINKED 1, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SUPRAVALVAR AORTIC STENOSIS, ?HYPERPROLACTINEMIA, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, DIABETES INSIPIDUS, NEPHROGENIC, AURICULOCONDYLAR SYNDROME 3, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, STROMME SYNDROME, APLASIA OF LACRIMAL AND SALIVARY GLANDS, ACNE INVERSA, FAMILIAL, 3, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, {GLIOMA SUSCEPTIBILITY 9}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, TRIGONOCEPHALY 1, NOONAN SYNDROME 4, ?OTOFACIOCERVICAL SYNDROME, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, MODY, TYPE I, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, THYROID HORMONE RESISTANCE, OCULODENTODIGITAL DYSPLASIA, ALLAN-HERNDON-DUDLEY SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PYRUVATE KINASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, MUSCLE GLYCOGENOSIS, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ATRIOVENTRICULAR SEPTAL DEFECT 4, FUHRMANN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, KERATOSIS, SEBORRHEIC, SOMATIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD, JACKSON-WEISS SYNDROME, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, DYSTONIA-12, MYOTONIC DYSTROPHY 1, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, WAARDENBURG SYNDROME, TYPE 3, GALACTOSIALIDOSIS, OSTEOGENESIS IMPERFECTA, TYPE IX, FACTOR X DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, THYROID DYSHORMONOGENESIS 1, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPERGLYCINURIA, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HYPOMAGNESEMIA 2, RENAL, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2, FUMARASE DEFICIENCY, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, ?BARDET-BIEDL SYNDROME 11, THROMBOCYTHEMIA 3, MENTAL RETARDATION, X-LINKED 41, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CHOREA, HEREDITARY BENIGN, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, ALZHEIMER DISEASE-2, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 33, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, TOOTH AGENESIS, SELECTIVE, 4, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, CORPUS CALLOSUM, PARTIAL AGENESIS OF, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, OPTIC NERVE HYPOPLASIA, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), XERODERMA PIGMENTOSUM, TYPE 1, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, ALCOHOL DEPENDENCE, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, THYROID DYSHORMONOGENESIS 3, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LATHOSTEROLOSIS, {LEPROSY, SUSCEPTIBILITY TO}, EXUDATIVE VITREORETINOPATHY 4, DARIER DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, {PARKINSON DISEASE 18}, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 6, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LISSENCEPHALY 3, GLAUCOMA 1, OPEN ANGLE, E, WAGNER SYNDROME 1, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, ANGIOEDEMA, HEREDITARY, TYPES I AND II, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, SPONDYLOCOSTAL DYSOSTOSIS 5, MYOPATHY DUE TO CPT II DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 11, THYROID DYSHORMONOGENESIS 4, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, ATRIOVENTRICULAR SEPTAL DEFECT 5, DIABETES INSIPIDUS, NEPHROGENIC, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, TREACHER COLLINS SYNDROME 3, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, EIKEN SYNDROME, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, PAGET DISEASE OF BONE 3, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, UTERINE LEIOMYOMA, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, TIETZ ALBINISM-DEAFNESS SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MENTAL RETARDATION, X-LINKED 90, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, RETINAL CONE DYSTROPHY 4, SPINOCEREBELLAR ATAXIA 42, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ATELOSTEOGENESIS, TYPE III, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, NEPHROTIC SYNDROME, TYPE 6, LOEYS-DIETZ SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PEROXISOME BIOGENESIS DISORDER 2B, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

616

CA2, CALM1, APOE, EZH2, CACNA2D4, FGFR1, SLC5A5, TSC2, CYP2C19, GNAS, GLI3, AGRP, FTL, KRIT1, SOX2, PTPRO, CDC6, B2M, LHCGR, AKT2, NOG, EGR2, FH, ADRB2, TRIM32, G6PC, VCAN, POR, TGFBR2, ADCY6, SLC6A19, PTEN, PHKB, ERBB2, KL, ERBB3, FSHR, PHKA2, XPC, AR, SQSTM1, THRA, GNRHR, BUB1B, CENPF, MTOR, ADCY1, HMGA1, LEP, PIK3CD, NR0B1, CBL, NCSTN, CCND1, JAK2, NKX2-1, ITPR1, HSPD1, ROR2, TUBGCP4, T, RYR1, NKX3-2, GPD1, AVPR2, TBX19, ADRB3, FXYD2, DUSP6, TYK2, TNC, MT-CO1, CAV3, GP6, AGL, GNAI3, CTNNB1, SERPINC1, GABBR2, SMAD4, DVL3, ETV6, GDNF, CEP63, CD40LG, PSEN2, SLC2A1, HBA1, CTDP1, PCK1, PPP2R1A, TUBB, AKT1, AXIN1, PPIB, MASP1, UBE3A, DYRK1A, EPHB2, HGF, ACAT2, A2M, PCK2, CSNK1D, IL1B, NOTCH3, PLCB4, RAF1, ECHS1, BCR, CALCR, EIF2B1, TNFSF11, SLC9A1, GNAO1, HNRNPK, TUBG1, HTR1A, KNG1, MTPAP, PIK3R2, PTPN11, LPL, SOS2, GATA4, LRPAP1, BCL10, RARS, PLCB1, NR4A2, SOD1, CPT1C, WNT10A, LCAT, LHB, PAK3, BDNF, RAB7A, CALR, MEF2A, ATF6, GHRL, EPS8, ATXN3, UCP1, NR3C1, TSC1, APOA5, PAX8, ACE, DMPK, WNT10B, TUBA8, MAD1L1, PEX14, APOB, MMP1, CPT2, MT-CO2, ACTB, NEK2, PIK3CA, PSEN1, CDK4, REN, G6PC3, IL4R, SLC26A4, WT1, NPR2, NBN, SOS1, PTPN1, CACNB4, EMD, MITF, KCNMB1, NR5A1, GNAI2, CUL7, SF3B4, GPX1, ANGPTL4, SOX9, MMP2, TRPC3, FOXL2, HLA-C, NPPA, CREBBP, PYGL, PKLR, ATP2A1, CABP4, CYP3A5, CORO1A, EDNRA, MEF2C, NR2F2, SCARB2, ATN1, FZD4, EHHADH, MSX2, KIF5C, NEUROD1, GK, PRKACG, EARS2, PTH, SCP2, PTH1R, JUP, LRP5, NRAS, MEN1, PRKG1, RB1, TNFRSF11A, GRIN2A, STAT3, BRAF, SNAP25, CETP, MC1R, SMAD6, ALPL, SLC2A2, IGF1, FLT4, CBS, CD36, KIF2A, CTCF, SC5D, EEF2, BMP2, KCNJ5, POMC, ALOX5, HRAS, AKAP9, DRD2, VDR, DVL1, ATXN1, APOA1, TP53, EGFR, SLC16A2, LRP2, IKBKB, MAPK8IP1, SNCA, PIGR, PRKCG, HK1, ERBB4, IRF1, MAF, LYZ, KIT, MYH6, BARD1, ISG15, DLG3, CYBB, PTS, PAX3, ACTG1, ALB, ASXL1, CYP19A1, PRKCSH, TGFB1, PLCE1, CYP1B1, VCP, PCLO, STAT1, APPL1, PEX7, MAP3K1, CACNA1C, PARK2, DUOX2, NOS3, SLC2A4, LDLR, PLA2G2A, DNMT1, ACTN4, IL6, PIK3R1, CRYAB, PCNA, NEFL, CEBPE, ACTN1, FLNB, HSD3B2, FTH1, WNT4, ADAM17, SMAD3, TLR2, HSPG2, TNF, ESR1, ODC1, F10, SERPINE1, PDX1, STAR, PDE4D, F2, LCT, FSHB, MED13L, IGBP1, TPM1, CYP27A1, IKBKG, CTSA, PLCD1, AGT, GCK, KCNJ6, CDK5, PPP1R3A, CDH1, WNT5A, FRZB, STK11, LIPE, FBP1, KAT5, COL1A1, CACNA1B, ACSL4, HNRNPA1, SERPING1, FZD6, GRID2, PRKAG2, COL2A1, MUSK, HMGCS2, ACTA1, TUBA1A, ITPR3, SMARCA4, RUNX1, IL10, IGF2, NOTCH2, CAD, GATA2, SCNN1A, EDA, ATP1A2, NTRK1, COL1A2, ITGA2, GALT, ABCA1, NFKBIA, GUCY1A3, CACNA1F, CACNB2, ICK, CD44, FOXO1, NR2F1, TNFRSF1A, SPRY2, TSHB, IFNG, GSC, RPS6KA3, INS, ABCC8, TYRP1, HAX1, TPO, GDI1, TYR, ACAT1, KCNN4, PAX2, TJP2, SYN1, SNTA1, VHL, HNF4A, RAPSN, GRIN2B, CEP164, RDX, BRCA1, PTHLH, FN1, TUBB3, KCNMA1, ITPR2, ACACA, TRPM4, IHH, TSHR, RPS19, MYC, AQP2, PIK3R5, GSN, STAT2, RYR2, SSR4, SMARCB1, PRKCD, NOS2, TLR4, HTR2A, CSF1R, WNT3, PHKG2, STXBP1, MED25, TBP, FGF10, GCGR, KITLG, AXIN2, HAMP, POLE, BAX, NPM1, ATP6AP2, SLC1A1, GATA6, CACNA1S, STX11, TRH, APP, IYD, GRM1, EDNRB, IRS2, ACTN2, ZAP70, PRLR, CYP17A1, TUFM, PTPRF, CAV1, DRD4, TAB2, KISS1, POT1, ACOX1, SEMA3A, ITGB3, TGFBI, MYO5A, PPARG, AGTR1, OTX2, PRKAR1A, EDN1, SLC35A2, BTK, AKT3, CDKN2A, MASP2, VIM, DACT1, HNF1B, NEU1, BMP4, PDGFRB, CD40, POU1F1, GYS2, THRB, IRS1, ANXA5, WNT7A, PRSS2, APOA2, KRAS, GLI2, PAX6, NKX2-5, DNAJC5, ATP1B1, TCF7L2, ZHX2, GLUL, LRP1, CACNA1D, EPHX1, CRX, PGR, NHLRC1, ATP2A2, CPT1A, EIF4G1, AQP7, KRT18, GNB3, AGRN, C4A, CSRP3, PDE3A, HTT, RELN, FMR1, WNT1, TGFBR1, EP300, MYO6, ZBTB16, EYA1, PCBD1, HCFC1, ADCY5, LRP6, PITX2, BMPR2, PLIN1, DUOXA2, KCNJ11, CACNA1G, GNA11, GJA1, CATSPER1, AHSG, LDHA, VWF, TBX6, PRODH, MVK, MYLK, TGFB3, CASR, DMD, TG, PYGM, FOXP3, TH, CCND2, GNAQ, GALE, PRKDC, PLK4, IGF1R, MED12, GYS1, SEC63, ATP1A3, MED17, MPDZ, MAP2K2, PHKA1, OGDH, LDB3, ACADM, FGF9, CHRM3, PLN, INPPL1, POLR1C, RUNX2, SLC9A3R1, LCK, FLNA, MYH11, NGF, HCCS, RETN, BMPR1B, LYST, ATM, MC4R, CASK, NFKB1, PRKACA, GATA5, INSR, NOTCH1, MYLK2, DLC1, PLCG2, NPHS1, CDKN1B, RPL11, MYCN, PDGFRA, L1CAM, FLNC, PEX19, KCNJ2, POLR2F, PEX5, GNRH1, SELP, CFTR, NR0B2, ADAM10, ATR, ANK2, ATIC, KDR, DTNA, PORCN, PPP2R1B, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Immune systemYesN8.72258e-121.64996

{PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, FACTOR V DEFICIENCY, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 20, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, AICARDI-GOUTIERES SYNDROME 7, ?NEUTROPHILIA, HEREDITARY, IMMUNODEFICIENCY 15, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, DUCHENNE MUSCULAR DYSTROPHY, SELECTIVE T-CELL DEFECT, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA PRURIGINOSA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, IMMUNODEFICIENCY 38, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, ?IMMUNODEFICIENCY 39, DESMOID DISEASE, HEREDITARY, CARDIOMYOPATHY, HYPERTROPHIC, 2, PULMONARY VENOOCCLUSIVE DISEASE 1, HYPERPROINSULINEMIA, RETINITIS PIGMENTOSA, DYSTONIA-11, MYOCLONIC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, COMPLEMENT FACTOR H DEFICIENCY, SICKLE CELL ANEMIA, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, FRONTOTEMPORAL DEMENTIA, THROMBOCYTOPENIA 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ?PROGESTERONE RESISTANCE, MULTIPLE SYNOSTOSES SYNDROME 1, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, ?REYNOLDS SYNDROME, ALPHA-2-MACROGLOBULIN DEFICIENCY, ?STEEL SYNDROME, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, NEUTROPENIA, CYCLIC, MUIR-TORRE SYNDROME, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, VAN BUCHEM DISEASE, TYPE 2, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, LEUKODYSTROPHY, HYPOMYELINATING, 11, IMMUNODEFICIENCY 11, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, BASAL LAMINAR DRUSEN, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, C3 DEFICIENCY, SPINOCEREBELLAR ATAXIA 15, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MICROVILLUS INCLUSION DISEASE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, C2 DEFICIENCY, MENTAL RETARDATION, X-LINKED 102, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, SINGLETON-MERTEN SYNDROME 1, SYNDACTYLY, TYPE III, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, NAXOS DISEASE, AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, BENIGN FAMILIAL HEMATURIA, IMMUNODEFICIENCY 44, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, FAMILIAL COLORECTAL CANCER, EPIDERMOLYSIS BULLOSA, PRETIBIAL, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], CARDIOMYOPATHY, HYPERTROPHIC, 4, BURKITT LYMPHOMA, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, LONG QT SYNDROME 15, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, HAY-WELLS SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 6, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, WAARDENBURG SYNDROME, TYPE 4C, IMMUNODEFICIENCY, COMMON VARIABLE, 6, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, LOEYS-DIETZ SYNDROME 1, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, IMMUNODEFICIENCY 12, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, INFANTILE NEUROAXONAL DYSTROPHY 1, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, WELANDER DISTAL MYOPATHY, DEJERINE-SOTTAS DISEASE, LYMPHEDEMA, HEREDITARY, IA, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?JOUBERT SYNDROME 22, GHOSAL HEMATODIAPHYSEAL SYNDROME, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, ARTHROGRYPOSIS, DISTAL, TYPE 2A, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, PEROXISOME BIOGENESIS DISORDER 11B, ATRIAL SEPTAL DEFECT 2, AGAMMAGLOBULINEMIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, MODY, TYPE III, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, OPSISMODYSPLASIA, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, IMMUNODEFICIENCY, COMMON VARIABLE, 5, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, DEAFNESS, AUTOSOMAL DOMINANT 17, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, HEMOCHROMATOSIS TYPE 1, MALFORMATION OF THE HEART, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, GLAUCOMA 1A, PRIMARY OPEN ANGLE, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, FRAGILE X SYNDROME, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, CARDIOMYOPATHY, DILATED, 1A, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, HYPOPLASTIC LEFT HEART SYNDROME 1, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, LIPOPROTEIN LIPASE DEFICIENCY, IMAGE SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, CHERUBISM, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MYOPATHY, DISTAL, TATEYAMA TYPE, PLEUROPULMONARY BLASTOMA, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, DEAFNESS, X-LINKED 5, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, FLETCHER FACTOR (PREKALLIKREIN) DEFICIENCY, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, ABCD SYNDROME, ?CARDIOMYOPATHY, DILATED, 2A, OSTEOGENESIS IMPERFECTA, TYPE XVII, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, PREMATURE OVARIAN FAILURE 7, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STICKLER SYNDROME, TYPE III, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, AGAMMAGLOBULINEMIA 3, DEAFNESS, AUTOSOMAL DOMINANT 13, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, 46,XX SEX REVERSAL, TYPE 2, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, XERODERMA PIGMENTOSUM, GROUP B, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, HYPOPARATHYROIDISM FAMILIAL ISOLATED, [ECULIZUMAB, POOR RESPONSE TO], IMMUNODEFICIENCY 20, HETEROTOPIA, PERIVENTRICULAR, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, MULTIPLE FIBROADENOMAS OF THE BREAST, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ?LICHTENSTEIN-KNORR SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 9, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?FIBROMATOSIS, GINGIVAL, 1, MISMATCH REPAIR CANCER SYNDROME, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, FACTOR XIIIB DEFICIENCY, ATELOSTEOGENESIS, TYPE I, SENIOR-LOKEN SYNDROME 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, TREACHER COLLINS SYNDROME 2, COMPLEMENT FACTOR D DEFICIENCY, CARNEY COMPLEX, TYPE 1, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WEAVER SYNDROME, BLAU SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, AMYOTROPHIC LATERAL SCLEROSIS 19, AMINOACYLASE 1 DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, SPHEROCYTOSIS, TYPE 1, NEMALINE MYOPATHY 5, AMISH TYPE, FAMILIAL MEDITERRANEAN FEVER, AR, HEPATIC ADENOMA, SOMATIC, PYCNODYSOSTOSIS, STORMORKEN SYNDROME, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MYXOMA, INTRACARDIAC, MEIER-GORLIN SYNDROME 5, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, EPIDERMOLYTIC HYPERKERATOSIS, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ACUTE MYELOID LEUKEMIA, M6 TYPE, FACTOR XII DEFICIENCY, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CARDIOMYOPATHY, DILATED, 1NN, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ARTHROGRYPOSIS, DISTAL, TYPE 8, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 4, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, BROOKE-SPIEGLER SYNDROME, CINCA SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 29, CRANIOSYNOSTOSIS, TYPE 2, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NOONAN SYNDROME 9, PRIMARY PULMONARY HYPERTENSION, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, HEMOPHILIA A, ?SPINOCEREBELLAR ATAXIA 41, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, TOOTH AGENESIS, SELECTIVE, 7, COFFIN-SIRIS SYNDROME 3, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, STRIATONIGRAL DEGENERATION, INFANTILE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, MYELOPEROXIDASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, OTOPALATODIGITAL SYNDROME, TYPE I, TARSAL-CARPAL COALITION SYNDROME, FRAXE, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, CYLINDROMATOSIS, FAMILIAL, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, MYOPATHY, TUBULAR AGGREGATE, 2, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, CARDIOMYOPATHY, HYPERTROPHIC, 3, CORNEAL DYSTROPHY, AVELLINO TYPE, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SEGAWA SYNDROME, RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, ?INFANTILE LIVER FAILURE SYNDROME 1, ?IMMUNODEFICIENCY 25, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, DEAFNESS, AUTOSOMAL DOMINANT 56, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, KNOBLOCH SYNDROME 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, [BONE MINERAL DENSITY VARIABILITY 1], {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PICK DISEASE, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, NEPHROTIC SYNDROME, TYPE 1, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, SPINOCEREBELLAR ATAXIA 1, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ADRENAL CORTICAL CARCINOMA, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, SPONDYLOPERIPHERAL DYSPLASIA, FRAGILE X TREMOR/ATAXIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BECKER MUSCULAR DYSTROPHY, DEAFNESS, AUTOSOMAL DOMINANT 64, OROFACIAL CLEFT 11, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 1, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, ?IMMUNODEFICIENCY 22, CD8 DEFICIENCY, FAMILIAL, SPINOCEREBELLAR ATAXIA 17, MOYAMOYA 6 WITH ACHALASIA, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 89, ?IMMUNODEFICIENCY 13, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?PRUNE BELLY SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, COFFIN-SIRIS SYNDROME 1, DEAFNESS, AUTOSOMAL DOMINANT 20/26, CARDIOMYOPATHY, HYPERTROPHIC, 11, CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, POLYCYSTIC LIVER DISEASE, C1Q DEFICIENCY, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, BRACHYDACTYLY, TYPE B2, EPITHELIAL RECURRENT EROSION DYSTROPHY, RIPPLING MUSCLE DISEASE, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, HAJDU-CHENEY SYNDROME, PIEBALDISM, IRIDOGONIODYSGENESIS, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, LYMPHEDEMA, HEREDITARY, ID, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AORTIC ANEURYSM, FAMILIAL THORACIC 6, JOUBERT SYNDROME 5, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, COMPLEMENT FACTOR I DEFICIENCY, PAPILLARY THYROID CARCINOMA, ULNAR-MAMMARY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, POROKERATOSIS 7, MULTIPLE TYPES, ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE, 3MC SYNDROME 1, AVASCULAR NECROSIS OF THE FEMORAL HEAD, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, MACROCEPHALY/AUTISM SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, OSTEOGENESIS IMPERFECTA, TYPE I, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, NEUROFIBROMATOSIS, TYPE 2, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, MENTAL RETARDATION, X-LINKED 46, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, LEGG-CALVE-PERTHES DISEASE, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, IMMUNODEFICIENCY 9, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, PARIETAL FORAMINA 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, XERODERMA PIGMENTOSUM, GROUP D, CARDIOMYOPATHY, DILATED, 1U, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, AORTIC ANEURYSM, FAMILIAL THORACIC 8, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 10, ACROKERATOSIS VERRUCIFORMIS, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, REVESZ SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, CAMURATI-ENGELMANN DISEASE, PSEUDOACHONDROPLASIA, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, CALCIUM OXALATE UROLITHIASIS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, EHLERS-DANLOS SYNDROME, TYPE 3, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, POPLITEAL PTERYGIUM SYNDROME 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, IMMUNODEFICIENCY 40, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, ANGIOEDEMA, HEREDITARY, TYPE III, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, WERNER SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, FECHTNER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, {HASHIMOTO THYROIDITIS}, CONGENITAL DIAPHRAGMATIC HERNIA, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FRONTOMETAPHYSEAL DYSPLASIA, ATRANSFERRINEMIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, AORTIC VALVE DISEASE 2, DEAFNESS, AUTOSOMAL RECESSIVE 68, IMMUNODEFICIENCY 43, C8 DEFICIENCY, TYPE II, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, IMMUNODEFICIENCY 19, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), ALPORT SYNDROME, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, BOOMERANG DYSPLASIA, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, GREENBERG SKELETAL DYSPLASIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, VAN DER WOUDE SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?THROMBOXANE SYNTHASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, EBD, BART TYPE, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, SPINOCEREBELLAR ATAXIA 14, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, C4A DEFICIENCY, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, TIETZ ALBINISM-DEAFNESS SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AXENFELD-RIEGER SYNDROME, TYPE 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OSSEOUS HETEROPLASIA, PROGRESSIVE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, DYSAUTONOMIA, FAMILIAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, LIMB-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, FACTOR VII DEFICIENCY, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CHOROID PLEXUS PAPILLOMA, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, C8 DEFICIENCY, TYPE I, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, BEARE-STEVENSON CUTIS GYRATA SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, COLE-CARPENTER SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KAPPA LIGHT CHAIN DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ?IMMUNODEFICIENCY 37, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, BURN-MCKEOWN SYNDROME, ATRIAL SEPTAL DEFECT 5, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, VISCERAL MYOPATHY, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY 8, CORNEAL DYSTROPHY, GROENOUW TYPE I, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, LEUKODYSTROPHY, HYPOMYELINATING, 12, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MYOTONIC DYSTROPHY 2, HOLOPROSENCEPHALY-3, BERGER DISEASE, TANGIER DISEASE, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, MIRROR MOVEMENTS 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, PREMATURE OVARIAN FAILURE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, ALAGILLE SYNDROME 2, NASU-HAKOLA DISEASE, CORNELIA DE LANGE SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 2, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, CHILBLAIN LUPUS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FIBROCHONDROGENESIS 2, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, AGAMMAGLOBULINEMIA 4, HOLOPROSENCEPHALY 11, ?CATARACT 30, PULVERULENT, 46XY SEX REVERSAL 6, FAMILIAL MEDITERRANEAN FEVER, AD, MAY-HEGGLIN ANOMALY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, RETINITIS PIGMENTOSA 41, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CATARACT 6, MULTIPLE TYPES, BRACHYDACTYLY, TYPE A1, D, SMED STRUDWICK TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MASP2 DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LADD SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE 2, HYPOMAGNESEMIA 3, RENAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, PARKINSON DISEASE, JUVENILE, TYPE 2, SPERMATOGENIC FAILURE 8, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, WAARDENBURG SYNDROME, TYPE 2D, RING DERMOID OF CORNEA, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, MASA SYNDROME, CRASH SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, MARSHALL SYNDROME, PAPILLORENAL SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, HYPERPARATHYROIDISM 1, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CZECH DYSPLASIA, TREACHER COLLINS SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, VENTRICULAR SEPTAL DEFECT 1, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, TOURETTE SYNDROME, {GILLES DE LA TOURETTE SYNDROME, SUSCEPTIBILITY TO}, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CONE-ROD DYSTROPHY 2, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLUCOCORTICOID RESISTANCE, ATELEIOTIC DWARFISM, NEUROCUTANEOUS MELANOSIS, SOMATIC, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, BARAITSER-WINTER SYNDROME 2, PELGER-HUET ANOMALY, TRANSALDOLASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, {NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO}, [NOVELTY SEEKING PERSONALITY], NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, STICKLER SYNDROME, TYPE I, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), MYOPATHY, TUBULAR AGGREGATE, 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, SUPRAVALVAR AORTIC STENOSIS, SPINOCEREBELLAR ATAXIA 28, ?HYPERPROLACTINEMIA, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, GLYCOGEN STORAGE DISEASE XII, ACNE INVERSA, FAMILIAL, 3, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, {GLIOMA SUSCEPTIBILITY 9}, VON WILLEBRAND DISEASE, PLATELET-TYPE, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, DUANE-RADIAL RAY SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SMITH-LEMLI-OPITZ SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, ADULT SYNDROME, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, DEAFNESS, AUTOSOMAL RECESSIVE 53, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PERRY SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, FEINGOLD SYNDROME, DILATED CARDIOMYOPATHY 1DD, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, AICARDI-GOUTIERES SYNDROME 6, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, COWCHOCK SYNDROME, MUCKLE-WELLS SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, LYNCH SYNDROME I, PITT-HOPKINS-LIKE SYNDROME 2, JACKSON-WEISS SYNDROME, BRACHYDACTYLY, TYPE E2, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, {BUDD-CHIARI SYNDROME}, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, OCULOECTODERMAL SYNDROME, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, FACTOR X DEFICIENCY, MAST CELL DISEASE, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CARDIOFACIOCUTANEOUS SYNDROME, IVIC SYNDROME, ARGININEMIA, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, TENORIO SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, CAFFEY DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, ?BARDET-BIEDL SYNDROME 11, THROMBOCYTHEMIA 3, MENTAL RETARDATION, X-LINKED 41, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, INFANTILE MYOFIBROMATOSIS 1, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, ALZHEIMER DISEASE-2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, IMMUNODEFICIENCY 33, WHIM SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, STICKLER SYNDROME, TYPE II, CEREBRAL AMYLOID ANGIOPATHY, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, QUESTION MARK EARS, ISOLATED, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, CORPUS CALLOSUM, PARTIAL AGENESIS OF, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, FACTOR XIIIA DEFICIENCY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, LYMPHOPROLIFERATIVE SYNDROME 1, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ALCOHOL DEPENDENCE, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?GLYCOPROTEIN IA DEFICIENCY, {LEPROSY, SUSCEPTIBILITY TO}, EXUDATIVE VITREORETINOPATHY 4, DARIER DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, PCWH SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 18, HYPERTHYROIDISM, NONAUTOIMMUNE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, EHLERS-DANLOS SYNDROME, TYPE IV, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LISSENCEPHALY 3, ?PRECOCIOUS PUBERTY, CENTRAL, 1, AGAMMAGLOBULINEMIA 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WAGNER SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, BLEEDING DISORDER, PLATELET-TYPE, 11, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, {OROFACIAL CLEFT 6}, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), LEUKOCYTE ADHESION DEFICIENCY, HEMOPHILIA B, DIABETES INSIPIDUS, NEPHROGENIC, ALEXANDER DISEASE, CATARACT 21, MULTIPLE TYPES, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, DYSTONIA 9, PAGET DISEASE OF BONE 3, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, DEAFNESS, AUTOSOMAL RECESSIVE 84A, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, THROMBOCYTOPENIA 4, OPITZ GBBB SYNDROME, TYPE I, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, CEREBELLOFACIODENTAL SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 7, LYMPHOPROLIFERATIVE SYNDROME 2, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, MACULAR DYSTROPHY, RETINAL, 2, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ATAXIA-OCULOMOTOR APRAXIA 3, IMMUNODEFICIENCY 46, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CARDIOMYOPATHY, HYPERTROPHIC, 12, CODAS SYNDROME, NEPHROTIC SYNDROME, TYPE 6, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, ?MYOPATHY, SCAPULOHUMEROPERONEAL, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CARDIOMYOPATHY, HYPERTROPHIC, 7, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, LEUKEMIA, CHRONIC MYELOID, SOMATIC, ATELOSTEOGENESIS, TYPE III, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

669

CALM1, APOE, EZH2, MSH6, HBB, RASGRP2, HSPB1, PKD1, CD3E, GP1BA, LBR, CUL3, CIITA, COL3A1, RPL5, KRIT1, HDC, CD82, PTPRO, CDC6, PROS1, B2M, AKT2, NOG, EGR2, ITGA3, IL1B, RAB7A, TRIM32, AR, MS4A1, PRKCH, TYROBP, ATN1, ACTC1, AFG3L2, CREBBP, PTPRQ, MAFB, AQP2, NF2, ERBB2, IL1RN, MYOC, APOA1, SLC9A3R1, IRF5, IFNAR2, CD79A, GNAS, RNF216, C2, C5, IGF2R, MTOR, TNNI3, THBD, CST3, HMGA1, PTH, TAF6, BMPR1A, PIK3CD, CD27, AIFM1, CBL, SMARCE1, CCND1, TALDO1, JAK2, ANK1, TNNT1, MIB1, ITPR1, VEGFC, HSPD1, TUBGCP4, T, TNNT2, SH2D1A, HTR2A, TP63, TYK2, TNC, ARG1, GATA1, CAV3, TGFBR1, ALDOA, CTNNB1, IL2RA, NRAS, GABBR2, SMAD4, CTSK, ETV6, CEP290, C1R, IGHM, LRP5, CTDP1, NUP214, SOX9, NUP62, PPP2R1A, TUBB, AKT1, TPI1, AURKA, NPHS1, EPHB2, HGF, A2M, CSNK1D, PEX13, PLCB4, RAF1, ECHS1, CD59, POMC, NOD2, TNFSF11, TNFRSF11A, SLC9A1, MASP1, AQP5, DIABLO, INPPL1, KNG1, PIK3R2, COL5A2, CXCR4, SOS2, GATA4, LRPAP1, SPG7, RARS, SPRY4, MT-CO2, FLT3, HLA-B, PTPN11, RANBP2, PDGFRB, LPL, COL4A3, EPHA2, PAK3, PTPN12, FCGR3A, MBL2, SMAD6, MEF2A, IFNGR1, EGFR, TF, POLR3B, ALB, HRAS, PIGR, TAP2, CCL2, DICER1, CTNNA1, GDI1, DNM2, CYBA, TREX1, PLCB1, APOB, TNFRSF13B, MMP1, VPS11, F5, PGK1, PSEN1, COL11A2, NLRC4, BMP4, CDK4, IL7R, HNRNPK, FGA, IL4R, CD244, IKBKAP, NDUFB11, PROK2, DES, CYCS, TGFBI, SOS1, PRF1, ACY1, S1PR2, MEFV, FGG, MITF, IGF1, CAPN3, MVD, GNAI2, CD81, SERPING1, CSF2RB, TGFB2, LRP6, MMP2, TRPC3, MAP2K2, HLA-C, NPPA, ADCY6, NME1, HBA1, IL12B, FGB, NOTCH1, MYCN, ERCC3, IL11RA, ITGB4, EDNRA, MEF2C, SCARB2, CFL2, VCAN, STAR, MSX2, ESR1, PRKACG, CARD9, CD247, MYOM1, JUP, MEN1, PRKG1, CASR, ACTA2, RB1, AICDA, STAT3, NFKBIL1, BRAF, MALT1, NCF1, CYLD, STIM1, CALR, LYZ, TSG101, BLNK, ADAR, RASA1, FLT4, CD36, MYBPC3, NFKB2, TNFAIP3, BMP2, EDNRB, IFIH1, DRD2, TXNL4A, PARK2, ERBB3, TP53, HLA-DQB1, LRP2, IKBKB, RB1CC1, TNFRSF10B, MAPK8IP1, TNFRSF11B, SNCA, PSTPIP1, PRKCG, ERBB4, TJP2, PTPRJ, FERMT3, IRF1, MAF, ITGA6, KIT, MYH6, OCLN, USH2A, ISG15, DLG3, ZAP70, KCNMA1, KRT8, TRAC, ACTG1, ATP2A2, NR5A1, CLDN1, P4HB, PIP5K1C, IGF1R, F13B, STAT1, APPL1, PRLR, F8, ATXN1, RFX5, NOTCH2, PLG, C1QB, FCGR2B, ACTN4, TINF2, IL6, PIK3R1, DCN, PCNA, POLR1C, MS4A2, ACTN1, APC, AP2S1, DAG1, ADAM17, EPOR, PROM1, SMAD3, TLR2, TNF, CFD, DDX58, ODC1, SCRIB, SERPINE1, GCGR, MPDZ, C3AR1, F2, ADCY1, CD3D, ADRB2, SALL1, F7, FAS, PEX14, SQSTM1, IKBKG, NRXN1, AGT, IGKC, CLDN14, GNAI3, LEP, CDK5, KDM1A, CDH1, PDCD1, NEB, MAP3K8, FMR1, SALL4, CDKN1C, PDE6D, FBP1, KAT5, MYC, COL10A1, PIK3CA, HNRNPA1, C1QC, POT1, TBK1, GATA3, COL2A1, RBPJ, ACTA1, DNM1, ACTB, SMARCA4, HTR1A, IL10, IL31RA, STUB1, IRAK3, F9, CD8A, NOS3, KLKB1, TIA1, CAD, IL21, CLDN19, SH3BP2, THPO, MET, NTRK1, COL1A2, ITGA2, KRT1, RFXAP, COMP, PROC, ORAI1, GUCY1A3, MMP13, GNAQ, NFKBIA, KARS, POLR1D, SPARC, EEF1A2, C3, BCR, TNFRSF1A, TMEM173, SPRY2, TSHR, GP9, IRF8, CLDN16, GP6, WAS, INS, CDON, GFAP, COL7A1, FCGR2A, GNB4, CD44, ITGB3, RUNX1, AGTR1, PPM1D, FOXO1, PAX2, HLA-DRB1, IFNGR2, SYN1, GRIN2B, RDX, BRCA1, ITGB2, PTHLH, TPM1, POLR3A, ITPR2, CYBB, COL18A1, TBX21, DCTN1, PTS, COL27A1, ITGA2B, RHO, SYNGAP1, HNF1A, PTPN1, PTEN, F13A1, PIK3R5, GSN, CFH, STAT2, BTK, P2RX1, SERPINC1, SMARCB1, CD40LG, PRKCD, NOS2, DHCR7, TLR4, CSF1R, BCL10, HPCA, JAK3, TBP, MYH9, COL11A1, TGFB1, KITLG, FADD, CFB, IL13, DEAF1, BAX, NPM1, ZHX2, FTH1, STX11, CLASP1, APP, F12, ABCC8, F10, IRS2, ACTN2, SERPINF2, SLC2A1, C8A, IRF6, CD46, CASP8, C8B, FLNB, CAV1, DRD4, TAB2, COL1A1, CNBP, MAP3K1, MYD88, TAP1, DDX3X, TBX3, MPO, IRF7, PPARG, INSR, COL5A1, ARHGEF9, PRKAR1A, KISS1R, DDR2, SOX10, DOCK2, AKT3, CDKN2A, NCF4, TFRC, MASP2, VIM, TGM1, MYL3, ERCC2, SNAI2, HIP1, CD40, ARHGDIA, HLA-DQA1, P2RY12, IRS1, ANXA5, SNRNP200, ACE, KRAS, TNFRSF13C, TUBA1A, SYN2, DNAJC5, ATP1B1, PLA2G2A, GP1BB, LRP1, EPHX1, CD79B, MID1, PGR, NR3C1, XRCC4, CDKN1B, LONP1, SLC6A4, GNB3, IFNG, C4A, CSRP3, NCF2, EP300, TAF1, ARHGEF6, NLRP1, ITK, RFXANK, ADCY5, PTPRC, JAM3, HRG, BMPR2, PLIN1, LARS, EDN1, UNC119, GJA1, CCL11, SERPIND1, MYH3, LDHA, VWF, COL17A1, MYLK, IGFBP7, CTLA4, DMD, MYO5B, FOXP3, POLR2F, C1QA, CCND2, CNTN2, ELANE, PRKDC, NDUFS1, PLK4, VCP, CFI, LDLR, ICOS, PLAU, HLA-G, FN1, ITCH, DNMT3B, MUSK, ITPR3, SERPINA1, TH, CHRM3, DDOST, TAPBP, RUNX2, SELP, LCK, CSF3R, FLNA, MYH11, BIN1, COL25A1, BMPR1B, NGF, CASP10, WRN, ATM, BRF1, IRF3, NFKB1, NLRP3, PRKACA, FXN, CD19, CARD11, MYLK2, TBXA2R, SELE, PITX2, MSH2, FGFR2, PLCG2, CD3G, CTNNA3, RPL11, L1CAM, PLA2G6, TBXAS1, DCC, FASLG, RNF125, GNRH1, NHP2, CFTR, NR0B2, ATR, CR2, ATIC, KDR, HFE, CORO1A, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Serotonergic synapseYesN0.004072254.73190

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, JERVELL AND LANGE-NIELSEN SYNDROME 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, SHORT SYNDROME, LONG QT SYNDROME 13, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, LONG QT SYNDROME 15, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA 14, RETINITIS PIGMENTOSA, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, [NOVELTY SEEKING PERSONALITY], EPISODIC ATAXIA, TYPE 2, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HUTCHINSON-GILFORD PROGERIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, LEOPARD SYNDROME 3, ?DYSTONIA 23, SUPRAVALVAR AORTIC STENOSIS, ?PROGESTERONE RESISTANCE, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, AURICULOCONDYLAR SYNDROME 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, MANDIBULOACRAL DYSPLASIA, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, PSEUDOHYPOPARATHYROIDISM IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32, DIAMOND-BLACKFAN ANEMIA 9, IMMUNODEFICIENCY 35, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, ATRIAL SEPTAL DEFECT 5, ATRIAL FIBRILLATION, FAMILIAL, 3, ATAXIA-TELANGIECTASIA, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, ALAND ISLAND EYE DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 15, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MUSCULAR DYSTROPHY, CONGENITAL, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, AORTIC ANEURYSM, FAMILIAL THORACIC 8, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSONISM-DYSTONIA, INFANTILE, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, BRUNNER SYNDROME, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ATRIOVENTRICULAR SEPTAL DEFECT 4, GLIOMA SUSCEPTIBILITY 1, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, AURICULOCONDYLAR SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, BURKITT LYMPHOMA, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, OSSEOUS HETEROPLASIA, PROGRESSIVE, VENTRICULAR SEPTAL DEFECT 1, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, MALOUF SYNDROME, SPINOCEREBELLAR ATAXIA 6, EPIDERMAL NEVUS, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, KEPPEN-LUBINSKY SYNDROME, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, CONE-ROD DYSTROPHY, X-LINKED, 3, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SHORT QT SYNDROME 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, NOONAN SYNDROME 4, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, GLYCINE ENCEPHALOPATHY, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, 1NN, ALCOHOL DEPENDENCE, AURICULOCONDYLAR SYNDROME 1, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, ATRIAL SEPTAL DEFECT 2, RESTRICTIVE DERMOPATHY, LETHAL, ?BLEEDING DISORDER, PLATELET-TYPE, 19, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, OVARIAN DYSGENESIS 1, HYPOKALEMIC PERIODIC PARALYSIS 1, HYPERPARATHYROIDISM, NEONATAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ANDERSEN SYNDROME, ?EPILEPSY, FAMILIAL TEMPORAL LOBE, 8, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, HEMOCHROMATOSIS TYPE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, PULMONARY HYPERTENSION, PRIMARY, 3, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, MYOGLOBINURIA, RECURRENT, LEBER OPTIC ATROPHY, GLAUCOMA 1A, PRIMARY OPEN ANGLE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPERALDOSTERONISM, FAMILIAL, TYPE III, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, GLAUCOMA 1, OPEN ANGLE, E, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, CARDIOMYOPATHY, HYPERTROPHIC, 11, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?FIBROMATOSIS, GINGIVAL, 1, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, PAPILLARY THYROID CARCINOMA, DIABETES INSIPIDUS, NEPHROGENIC, BRACHYDACTYLY, TYPE A2, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, LONG QT SYNDROME 14, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HEART-HAND SYNDROME, SLOVENIAN TYPE, OVARIAN RESPONSE TO FSH STIMULATION, NEUROCUTANEOUS MELANOSIS, SOMATIC, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, IMMUNODEFICIENCY 36, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OVARIAN HYPERSTIMULATION SYNDROME, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

95

CALM1, LMNA, CAV1, DRD4, MYC, CYP2C19, GNAS, PPARG, SLC6A3, SNCA, EDN1, ADRB2, CACNA1B, ACTC1, PRKACG, MAOA, DDC, ECHS1, KRAS, HTR1A, GABRA1, DRD2, NOS3, CACNA1D, PGR, ARFGEF2, CALR, FSHR, GNAI2, GNB3, PTH, CACNA1F, GNAI3, AVPR2, ITPR1, PRKG1, CACNA1A, MT-CYB, RPS10, PTPN1, SLC6A4, CYP2D6, STAT3, ADCY5, TYK2, ABCC8, GNB4, APP, KCNJ6, GABBR2, GLDC, CASR, GAL, BMP2, KCNJ5, ALOX5, AKT1, TUBB3, GNAQ, ITPR2, KCNA2, PRKCD, ALOX12B, CYP2C9, RHO, PRKCG, RAF1, ITPR3, POMC, NRAS, KCNQ1, GNAO1, NOS2, HTR2A, KNG1, ATM, GATA4, PLCB1, PRKACA, CACNA1C, PLA2G2A, SOS1, BRAF, IL6, CYP1B1, CACNA1S, FLNC, HRAS, ACTN2, GNRH1, NR3C1, ESR1, PIK3R1, MTOR, PLCB4

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
DevelopmentYesN0.0001719173.24421

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 20, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, MIRROR MOVEMENTS 1, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 38, PULMONARY VENOOCCLUSIVE DISEASE 1, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ALPHA-2-MACROGLOBULIN DEFICIENCY, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS, FAMILIAL SPINAL, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ADAMS-OLIVER SYNDROME 5, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IC, BOHRING-OPITZ SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, BECKWITH-WIEDEMANN SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, INCONTINENTIA PIGMENTI, HYPERPROINSULINEMIA, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, IMMUNODEFICIENCY, COMMON VARIABLE, 10, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, EHLERS-DANLOS SYNDROME, TYPE 3, CATARACT 16, MULTIPLE TYPES, ATRIAL SEPTAL DEFECT 9, IMMUNODEFICIENCY 44, FAMILIAL COLORECTAL CANCER, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, CARDIOMYOPATHY, HYPERTROPHIC, 4, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, NEUROFIBROMATOSIS, TYPE 1, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, NOONAN SYNDROME 4, ?JOUBERT SYNDROME 22, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOSPADIAS 1, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, FRAGILE X SYNDROME, CARDIOMYOPATHY, DILATED, 1A, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMAGE SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, GLYCOGEN STORAGE DISEASE XI, PLEUROPULMONARY BLASTOMA, DEAFNESS, X-LINKED 5, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LATERAL MENINGOCELE SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, GLANZMANN THROMBASTHENIA, ECTOPIA LENTIS ET PUPILLAE, DEAFNESS, AUTOSOMAL RECESSIVE 39, CROUZON SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, OSTEOLYSIS, FAMILIAL EXPANSILE, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, 46,XX SEX REVERSAL, TYPE 2, PICK DISEASE, IMMUNODEFICIENCY 20, HETEROTOPIA, PERIVENTRICULAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, PROSTATE CANCER 1, MULTIPLE FIBROADENOMAS OF THE BREAST, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, MELNICK-NEEDLES SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, NEUROFIBROMATOSIS-NOONAN SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PYCNODYSOSTOSIS, RETINITIS PIGMENTOSA 35, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IA, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, CARDIOMYOPATHY, DILATED, 1NN, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, RETICULATE ACROPIGMENTATION OF KITAMURA, BROOKE-SPIEGLER SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NOONAN SYNDROME 9, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, PRIMARY PULMONARY HYPERTENSION, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47, CYLINDROMATOSIS, FAMILIAL, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 3}, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, NEPHROTIC SYNDROME, TYPE 1, COMMON VARIABLE IMMUNODEFICIENCY 1, SPINOCEREBELLAR ATAXIA 1, ADRENAL CORTICAL CARCINOMA, FRAGILE X TREMOR/ATAXIA SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, OROFACIAL CLEFT 11, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 89, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, AORTIC ANEURYSM, FAMILIAL THORACIC 6, DEAFNESS, AUTOSOMAL DOMINANT 20/26, CARDIOMYOPATHY, HYPERTROPHIC, 11, KOSAKI OVERGROWTH SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, SECKEL SYNDROME 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, LYMPHEDEMA, HEREDITARY, ID, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, TUMOR PREDISPOSITION SYNDROME, GENITOPATELLAR SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, FACTOR XIIIA DEFICIENCY, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, LEOPARD SYNDROME 1, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, CAMURATI-ENGELMANN DISEASE, CRANIOFRONTONASAL DYSPLASIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, CONGENITAL DIAPHRAGMATIC HERNIA, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, SADDAN, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OSTEOGENESIS IMPERFECTA, TYPE III, HOLOPROSENCEPHALY-3, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, OSSEOUS HETEROPLASIA, PROGRESSIVE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, BRACHYDACTYLY, TYPE A1, D, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LISSENCEPHALY 3, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, CORNELIA DE LANGE SYNDROME 3, ATRIAL SEPTAL DEFECT 5, OCULOECTODERMAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY 8, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, VENTRICULAR SEPTAL DEFECT 1, PREMATURE OVARIAN FAILURE 1, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, ALAGILLE SYNDROME 2, NASU-HAKOLA DISEASE, PLASMA FIBRONECTIN DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, HOLOPROSENCEPHALY 11, ?CATARACT 30, PULVERULENT, 46XY SEX REVERSAL 6, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, AMYOTROPHIC LATERAL SCLEROSIS 19, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, CATARACT 6, MULTIPLE TYPES, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, WATSON SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, APERT SYNDROME, MASA SYNDROME, CRASH SYNDROME, THROMBOCYTOPENIA 5, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, PREMATURE AGING SYNDROME, PENTTINEN TYPE, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, BARAITSER-WINTER SYNDROME 2, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, [NOVELTY SEEKING PERSONALITY], MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SUPRAVALVAR AORTIC STENOSIS, ?HYPERPROLACTINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, ACNE INVERSA, FAMILIAL, 3, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, TRIGONOCEPHALY 1, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, PITUITARY DEPENDENT HYPERCORTISOLISM, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, CATSHL SYNDROME, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, JACKSON-WEISS SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, THROMBOCYTHEMIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, IMMUNODEFICIENCY 33, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PLATELET GLYCOPROTEIN IV DEFICIENCY, AURICULOCONDYLAR SYNDROME 1, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LYMPHOPROLIFERATIVE SYNDROME 1, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, ?MYOFIBROMATOSIS, INFANTILE 2, {LEPROSY, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, INFANTILE MYOFIBROMATOSIS 1, CONE-ROD DYSTROPHY 10, ANDROGEN INSENSITIVITY, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PAGET DISEASE OF BONE 3, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, NEPHROTIC SYNDROME, TYPE 12, TIETZ ALBINISM-DEAFNESS SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, NEPHROTIC SYNDROME, TYPE 6, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, SMITH-KINGSMORE SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

242

CALM1, MPDZ, CYBA, SQSTM1, APPL1, DRD4, TAB2, MYC, MEF2C, ACTB, SEMA3E, IKBKG, PIK3CA, BMPR1A, ACP5, NGF, F2, AGT, CYLD, GNAI3, CDK5, NOTCH3, ASCC1, CALCR, SEMA4A, EDN1, BTK, PLAU, B2M, CFL2, SEMA3D, EPHA2, NF1, PDE6D, VIM, TGFB2, SPTAN1, ADRB2, ROBO3, NCF4, PTPRJ, PTPN1, BMP4, BMPER, TYROBP, HNRNPA1, MITF, TNFRSF11B, ACTC1, CAPN3, GATA3, GNAI2, DNMT3B, RBPJ, ATN1, ERBB4, ACTA1, IRS1, EIF2B2, RASA1, ERBB2, GRIP1, F13A1, CNTN2, RUNX1, IL10, TUBA1A, EGFR, TBK1, AR, IFNAR2, IL12B, PGK1, NOTCH2, THPO, CAD, MYD88, MTOR, LDHA, FGFR1, CD3E, NR2F2, MET, LEP, ASXL1, PAX2, PIK3CD, COL1A1, PAK3, AIFM1, ESR1, CBL, CNTNAP1, CCND1, PSEN1, PTH, NFKBIA, STAT1, NRAS, GNAS, IRF8, FMR1, FCGR3A, NCF2, EP300, VEGFC, BAP1, TNFRSF1A, FCGR2B, TSHR, IFNG, CDH1, GSC, ITK, CREBBP, STAT3, TYK2, NOTCH1, INS, KAT6B, IFNGR1, BMPR2, GATA1, FCGR2A, NCF1, TGFBR1, ITGB3, PPARG, CTNNB1, SOX9, BLNK, IGF1, TREM2, CTSK, ETV6, FOXO1, MYBPC3, HLA-DRB1, KRAS, TNFSF11, SYN1, CNTN1, NFKB2, GRIN2B, BMP2, FLNA, AKT1, CYBB, UBA1, IGF1R, ATXN1, KARS, NPHS1, HLA-C, AKT2, IKBKB, CD40, EPHB2, HGF, NUP93, A2M, FN1, IRF5, CDKN1C, ACTA2, EFNB1, PTEN, IL1B, FGFR3, PIK3R5, CIITA, STAT2, EIF4A3, TLR2, RB1, LCK, RAF1, ISG15, IFNGR2, TNFRSF11A, SEMA3A, PRKCD, IL4R, NOS2, TUBG1, TLR4, ACTG1, BMPR1B, CSF1R, NOS3, SMC3, PIK3R2, TGFB1, MMP2, PTPN11, CXCR4, SOS2, GATA4, FMN2, DICER1, NFKB1, WAS, MAP3K1, GATA5, FLT3, POMC, AKT3, SOS1, TP53, PDGFRB, FGFR2, PLCG2, IL6, SP110, GATA6, CRYAB, L1CAM, ADAMTSL4, PTPRO, APP, CD36, ACTN1, CDON, HRAS, DCC, FASLG, CDK4, ACTN2, RNASEL, MAPK8IP1, ADAM10, ATR, TNF, PRLR, TGFBR2, CASP8, SHH, KDR, JAK2, SERPINE1, CORO1A, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
ABC transportersNoN0.01016516.7453

STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, GINGIVAL FIBROMATOSIS WITH HYPERTRICHOSIS, SITOSTEROLEMIA, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, [URIC ACID CONCENTRATION, SERUM, QTL1], HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ATRIAL FIBRILLATION, FAMILIAL, 12, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, {MACULAR DEGENERATION, AGE-RELATED, 2}, SHORT SYNDROME, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GALLBLADDER DISEASE 1, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, TANGIER DISEASE, DUBIN-JOHNSON SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), BURKITT LYMPHOMA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, {ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO}, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

32

APOA1, MYC, ABCD3, ABCG5, PEX19, TAP1, ABCB6, SPTLC1, ABCA3, ABCA1, ABCB7, ABCC2, CFTR, ABCA7, ABCC11, ABCC9, STAT1, ABCB4, ABCA12, ABCD4, ABCG8, ABCD1, ABCA4, SPRY2, ABCG2, ABCA5, ABCB11, TAP2, INS, ABCC8, ABCC6, PIK3R1

1, 10, 11, 12, 13, 14, 16, 17, 19, 2, 4, 5, 6, 7, 8, 9, X0
Endocrine and other factor-regulated calcium reabsorptionYesN0.01750976.1578

STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, HYPOMAGNESEMIA 2, RENAL, ATAXIA-TELANGIECTASIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, DYSTONIA-11, MYOCLONIC, AURICULOCONDYLAR SYNDROME 2, NOONAN SYNDROME 4, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, SPINOCEREBELLAR ATAXIA 15, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, QUESTION MARK EARS, ISOLATED, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, ?BLEEDING DISORDER, PLATELET-TYPE, 19, HYPOSPADIAS 1, X-LINKED, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, AURICULOCONDYLAR SYNDROME 1, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, SPINOCEREBELLAR ATAXIA 14, MYOTUBULAR MYOPATHY, X-LINKED, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, LONG QT SYNDROME 14, FAILURE OF TOOTH ERUPTION, PRIMARY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, HYPOPARATHYROIDISM FAMILIAL ISOLATED, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, CAPOS SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, DYSTONIA-12, VENTRICULAR TACHYCARDIA, IDIOPATHIC, EIKEN SYNDROME, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ?FIBROMATOSIS, GINGIVAL, 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, OSSEOUS HETEROPLASIA, PROGRESSIVE, AURICULOCONDYLAR SYNDROME 3, ALPHA-2-MACROGLOBULIN DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IA, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, ESTROGEN RESISTANCE, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, RENAL TUBULAR DYSGENESIS, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, SINGLETON-MERTEN SYNDROME 2

41

CALM1, DNM1, APP, GNAQ, NFKB1, NGF, PRKCD, MPDZ, ADRB2, IGF1, AR, ATP1B1, GNAS, ATM, PTH1R, AGT, PLCB1, ESR1, PRKACA, KL, ATP1A2, EDN1, KCNMA1, VDR, PRKACG, DDX58, PTH, AP2S1, RAB7A, BDNF, ATP1A3, DNM2, ITPR1, A2M, SOS1, PRKCG, DRD2, ADCY6, FXYD2, GNAI2, PLCB4

1, 10, 11, 12, 13, 14, 19, 2, 20, 21, 3, 4, 5, 6, 9, X0
Aldosterone-regulated sodium reabsorptionYesN0.02462316.8863

NEUROFIBROMATOSIS-NOONAN SYNDROME, HYPOMAGNESEMIA 2, RENAL, IMMUNODEFICIENCY 14, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, BURKITT LYMPHOMA, HYPER-IGE RECURRENT INFECTION SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEPRECHAUNISM, BARTTER SYNDROME, TYPE 2, LIDDLE SYNDROME, HYPERPROINSULINEMIA, OCULOECTODERMAL SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SHORT SYNDROME, CAPOS SYNDROME, ESSENTIAL HYPERTENSION, PSEUDOHYPOALDOSTERONISM, TYPE IIC, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, WATSON SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, CLOVE SYNDROME, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, KERATOSIS, SEBORRHEIC, SOMATIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PSEUDOHYPOALDOSTERONISM, TYPE I, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, DYSTONIA-12, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, ATAXIA-OCULOMOTOR APRAXIA 3, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, RABSON-MENDENHALL SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEUROFIBROMATOSIS, TYPE 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, RENAL CYSTS AND DIABETES SYNDROME, EPIDERMAL NEVUS, APPARENT MINERALOCORTICOID EXCESS, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SPINOCEREBELLAR ATAXIA 14, IMMUNODEFICIENCY 36, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

29

KRAS, MYC, IGF1, ATP1B1, SCNN1B, PIK3R2, INSR, MTOR, STAT3, SCNN1A, SCNN1G, HSD11B2, AKT1, NGF, PIK3CD, KCNJ1, ATP1A2, ATP1A3, HNF1B, PIK3CA, WNK1, PRKCG, NF1, PIK3R5, FXYD2, INS, NR3C2, IRS1, PIK3R1

1, 11, 12, 14, 16, 17, 19, 2, 3, 4, 5, 80
Biosynthesis of amino acidsYesN0.0004698275.7882

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, CYSTATHIONINURIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?INFANTILE LIVER FAILURE SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, GLYCOGEN STORAGE DISEASE X, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, EPILEPSY, PYRIDOXINE-DEPENDENT, GLUTAMINE DEFICIENCY, CONGENITAL, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, INFANTILE CEREBELLAR-RETINAL DEGENERATION, HYPERPROINSULINEMIA, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, FRUCTOSE INTOLERANCE, MIRROR MOVEMENTS 2, CUTIS LAXA, AUTOSOMAL DOMINANT 3, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, NEU-LAXOVA SYNDROME 1, ARTS SYNDROME, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PYRUVATE KINASE DEFICIENCY, ?OPTIC ATROPHY 9, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, PYRUVATE CARBOXYLASE DEFICIENCY, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRANSALDOLASE DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, AMINOACYLASE 1 DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, NEU-LAXOVA SYNDROME 2, COFFIN-SIRIS SYNDROME 3, MYHRE SYNDROME, LEBER OPTIC ATROPHY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BURKITT LYMPHOMA, NICOLAIDES-BARAITSER SYNDROME, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, CITRULLINEMIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, ARGININOSUCCINIC ACIDURIA, GLYCOGEN STORAGE DISEASE XII, MYOGLOBINURIA, RECURRENT, GLYCOGEN STORAGE DISEASE VII, DEAFNESS, X-LINKED 1, CEROID LIPOFUSCINOSIS, NEURONAL, 11, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ?GLYCOGEN STORAGE DISEASE XIII, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, LEUKODYSTROPHY, HYPOMYELINATING, 10, FRONTOTEMPORAL DEMENTIA, ARGININEMIA, TYROSINEMIA, TYPE II, DIAMOND-BLACKFAN ANEMIA 9, PHOSPHOSERINE PHOSPHATASE DEFICIENCY

56

PCNA, OTC, SMARCA2, NAGS, SHMT1, SMARCB1, PRPS1, TAT, MYC, PHGDH, SMAD4, EEF2, CAPN3, PGAM2, ASL, GRN, CBS, ENO3, PKLR, ALDH7A1, IDH2, RPIA, CTH, ALDH18A1, ARG1, GPT2, PYCR2, IDH1, GLUL, ACY1, PGK1, GFPT1, PYCR1, TPI1, ALDOA, IL6, ALDOB, ASS1, ACO2, INS, TALDO1, MAT1A, PFKM, RAD51, HSPD1, PAH, PSAT1, MT-CYB, RPS10, MTR, PCBD1, QDPR, PSPH, CPS1, LARS, PC

1, 10, 11, 12, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
TGF-beta signaling pathwayYesN2.51327e-065.3157

CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, BRACHYDACTYLY, TYPE A1, D, HETEROTAXY, VISCERAL, 5, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, VENTRICULAR SEPTAL DEFECT 1, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, PULMONARY VENOOCCLUSIVE DISEASE 1, CAFFEY DISEASE, CARASIL SYNDROME, FECHTNER SYNDROME, CAMURATI-ENGELMANN DISEASE, AURICULOCONDYLAR SYNDROME 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, MULTIPLE SYNOSTOSES SYNDROME 1, LOEYS-DIETZ SYNDROME 2, CORNEAL DYSTROPHY, CONGENITAL STROMAL, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, TRIGONOCEPHALY 1, AORTIC VALVE DISEASE 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PULMONARY HYPERTENSION, PRIMARY, 2, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, BRACHYDACTYLY, TYPE C, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, GLIOMA SUSCEPTIBILITY 1, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, OSTEOGENESIS IMPERFECTA, TYPE IV, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, DU PAN SYNDROME, HOLOPROSENCEPHALY-3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, C2 DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, BRACHYDACTYLY, TYPE A1, C, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, MULTIPLE SYNOSTOSES SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 6, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, JACKSON-WEISS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, BURKITT LYMPHOMA, LEBER CONGENITAL AMAUROSIS 17, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, TARSAL-CARPAL COALITION SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, IMMUNODEFICIENCY 36, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOGENESIS IMPERFECTA, TYPE I, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, OSTEOGLOPHONIC DYSPLASIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, THROMBOCYTHEMIA 3, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {MELANOMA, CUTANEOUS MALIGNANT, 3}, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE II, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, BANNAYAN-RILEY-RUVALCABA SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, SYMPHALANGISM, PROXIMAL, 1A, ADRENAL CORTICAL CARCINOMA, BRACHYDACTYLY, TYPE A2, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ATRIAL SEPTAL DEFECT 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, DEAFNESS, AUTOSOMAL DOMINANT 17, OROFACIAL CLEFT 11, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PLASMA FIBRONECTIN DEFICIENCY, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, 46,XX SEX REVERSAL, TYPE 2, IRIDOGONIODYSGENESIS, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, MYHRE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, CHONDRODYSPLASIA, GREBE TYPE, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, RING DERMOID OF CORNEA, ALEXANDER DISEASE, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LOEYS-DIETZ SYNDROME 4, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

80

SOX9, GDF5, CAV1, SHH, HTRA1, NODAL, AMHR2, FSHB, MYC, C2, SMAD4, PTEN, ALB, GDF6, AKT1, TGFB1, GSC, BMPR1A, PPARG, AMH, GATA4, TGFB3, TGFB2, MYH9, TNF, SMAD9, PITX2, FGFR1, ACVRL1, CDK5, PPP2R1A, CREBBP, BMP2, ESR1, BMP4, LHX3, CDH1, FN1, CCND2, CDKN1B, AXIN1, CCND1, BMPR2, FRZB, GFAP, DDX58, NOG, PRKCD, JAK2, EGFR, DCN, TGFBR1, PCNA, DVL1, NOS2, SMAD6, EP300, SPRY2, PRKG1, TP53, EDN1, HLA-C, CDK4, BMPER, TGFBR2, IFNG, PPP2R1B, SMAD3, CDK6, BMPR1B, ACVR1, CFTR, PIK3R1, KDR, COL1A1, RUNX2, GDF2, SF3B4, IRS1, ACVR1B

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 22, 3, 4, 5, 6, 7, 8, 90
Membrane transportNoN0.01016516.7453

STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, GINGIVAL FIBROMATOSIS WITH HYPERTRICHOSIS, SITOSTEROLEMIA, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, ICHTHYOSIS, AUTOSOMAL RECESSIVE 4B (HARLEQUIN), IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, [URIC ACID CONCENTRATION, SERUM, QTL1], HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ATRIAL FIBRILLATION, FAMILIAL, 12, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERPROINSULINEMIA, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A, {MACULAR DEGENERATION, AGE-RELATED, 2}, SHORT SYNDROME, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GALLBLADDER DISEASE 1, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, TANGIER DISEASE, DUBIN-JOHNSON SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), BURKITT LYMPHOMA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, {ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO}, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, [AXILLARY ODOR, VARIATION IN], [EARWAX, WET/DRY], [COLOSTRUM SECRETION, VARIATION IN], METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3

32

APOA1, MYC, ABCD3, ABCG5, PEX19, TAP1, ABCB6, SPTLC1, ABCA3, ABCA1, ABCB7, ABCC2, CFTR, ABCA7, ABCC11, ABCC9, STAT1, ABCB4, ABCA12, ABCD4, ABCG8, ABCD1, ABCA4, SPRY2, ABCG2, ABCA5, ABCB11, TAP2, INS, ABCC8, ABCC6, PIK3R1

1, 10, 11, 12, 13, 14, 16, 17, 19, 2, 4, 5, 6, 7, 8, 9, X0
Signal transductionYesN1.70668e-160.871623

ATROPHODERMA VERMICULATUM, ROBINOW-SORAUF SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, KOWARSKI SYNDROME, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, ACHONDROPLASIA, ?NEUTROPHILIA, HEREDITARY, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?IMMUNODEFICIENCY 39, DESMOID DISEASE, HEREDITARY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, DYSAUTONOMIA, FAMILIAL, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, HYPER-IGE RECURRENT INFECTION SYNDROME, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, CHOANAL ATRESIA AND LYMPHEDEMA, LARON DWARFISM, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, ALPHA-2-MACROGLOBULIN DEFICIENCY, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, COFFIN-LOWRY SYNDROME, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, PEPCK DEFICIENCY, MITOCHONDRIAL, JOUBERT SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, INCONTINENTIA PIGMENTI, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, HYPERPROINSULINEMIA, HAJDU-CHENEY SYNDROME, SPINOCEREBELLAR ATAXIA 15, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, 46XY SEX REVERSAL 9, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CARDIOMYOPATHY, HYPERTROPHIC, 25, C2 DEFICIENCY, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, ATRIAL SEPTAL DEFECT 9, BENIGN FAMILIAL HEMATURIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, EPIDERMOLYSIS BULLOSA, PRETIBIAL, BURKITT LYMPHOMA, PRADER-WILLI SYNDROME, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, HOLT-ORAM SYNDROME, NEUROFIBROMATOSIS, TYPE 1, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, [HEREDITARY PERSISTENCE OF ALPHA-FETOPROTEIN], PARKINSON DISEASE 4, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, BRACHYDACTYLY, TYPE E2, HYPER-IGD SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, HYPOSPADIAS 1, X-LINKED, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, CLOVE SYNDROME, SOMATIC, UV-SENSITIVE SYNDROME 2, TRIGONOCEPHALY 1, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, OPSISMODYSPLASIA, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, HEMOCHROMATOSIS TYPE 1, MALFORMATION OF THE HEART, SPLIT-HAND/FOOT MALFORMATION 4, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, CRANIOLENTICULOSUTURAL DYSPLASIA, MECONIUM ILEUS, TUBEROUS SCLEROSIS-1, FRAGILE X SYNDROME, LEBER CONGENITAL AMAUROSIS 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PEROXISOME BIOGENESIS DISORDER 11B, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE IA, PSEUDOHYPOALDOSTERONISM, TYPE IIC, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, ?FIBROMATOSIS, GINGIVAL, 1, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?CARDIOMYOPATHY, DILATED, 2A, NOONAN SYNDROME 7, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, CAUDAL REGRESSION SYNDROME, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, MARFAN LIPODYSTROPHY SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, CARDIOMYOPATHY, DILATED, 1V, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MULTIPLE FIBROADENOMAS OF THE BREAST, RETINITIS PIGMENTOSA 62, OPTIC ATROPHY 1, ?SECKEL SYNDROME 6, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, NEMALINE MYOPATHY 5, AMISH TYPE, STORMORKEN SYNDROME, PIERSON SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, POLYDACTYLY, PREAXIAL, TYPE IV, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, ALAND ISLAND EYE DISEASE, PERIODIC FEVER, FAMILIAL, DYSTONIA 27, ACHROMATOPSIA-2, SPINOCEREBELLAR ATAXIA 27, ?SPINOCEREBELLAR ATAXIA 41, PSEUDOHYPOALDOSTERONISM, TYPE I, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, ACETYL-COA CARBOXYLASE DEFICIENCY, AMYLOIDOSIS, FINNISH TYPE, LEGIUS SYNDROME, SEGAWA SYNDROME, RECESSIVE, IMMUNODEFICIENCY 36, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, SCLEROSTEOSIS 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 56, MUSCULAR DYSTROPHY, CONGENITAL, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 2}, LACTASE PERSISTENCE/NONPERSISTENCE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, ADRENAL CORTICAL CARCINOMA, FRAGILE X TREMOR/ATAXIA SYNDROME, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, OROFACIAL CLEFT 11, CHUDLEY-MCCULLOUGH SYNDROME, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, KRABBE DISEASE, ATYPICAL, FIBROCHONDROGENESIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LOEYS-DIETZ SYNDROME 5, DEAFNESS, AUTOSOMAL DOMINANT 20/26, CORNEAL DYSTROPHY, GROENOUW TYPE I, ?N SYNDROME, BRACHYDACTYLY, TYPE B2, IRIDOGONIODYSGENESIS, TYPE 2, TRANSIENT BULLOUS OF THE NEWBORN, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, RETINITIS PIGMENTOSA 11, DIABETES INSIPIDUS, NEPHROGENIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ERYTHROCYTOSIS, FAMILIAL, 3, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, IRIS HYPOPLASIA AND GLAUCOMA, IRIDOGONIODYSGENESIS, TYPE 1, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, FACTOR XIIIA DEFICIENCY, ?MICROPHTHALMIA, SYNDROMIC 1, CRANIOSYNOSTOSIS, TYPE 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, FAILURE OF TOOTH ERUPTION, PRIMARY, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, PSEUDOACHONDROPLASIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE 3, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, DIARRHEA 6, SENIOR-LOKEN SYNDROME 4, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, LYMPHEDEMA, HEREDITARY, IA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, METATROPIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, {HASHIMOTO THYROIDITIS}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, CARDIOMYOPATHY, HYPERTROPHIC, 3, HARTSFIELD SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, GREENBERG SKELETAL DYSPLASIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, VAN DER WOUDE SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PHELAN-MCDERMID SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, SICK SINUS SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OSSEOUS HETEROPLASIA, PROGRESSIVE, COMBINED SAP DEFICIENCY, ROBINOW SYNDROME, PAPILLORENAL SYNDROME, COLD-INDUCED SWEATING SYNDROME 2, COLE-CARPENTER SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, ATRIAL SEPTAL DEFECT 5, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, USHER SYNDROME, TYPE 1F, IMMUNODEFICIENCY 14, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SMALL CELL CANCER OF THE LUNG, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, MEGALOCORNEA 1, X-LINKED, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, TRICHOHEPATOENTERIC SYNDROME 2, [BONE MINERAL DENSITY VARIABILITY 1], RETINITIS PIGMENTOSA-12, AUTOSOMAL RECESSIVE, USHER SYNDROME, TYPE 1D/F DIGENIC, USHER SYNDROME, TYPE 1D, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, PITUITARY ADENOMA, PROLACTIN-SECRETING, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FIBROCHONDROGENESIS 2, FRASIER SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 1, AGAMMAGLOBULINEMIA 4, ALPHA-FETOPROTEIN DEFICIENCY, 46,XX SEX REVERSAL, TYPE 2, CATARACT 6, MULTIPLE TYPES, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, CORNEAL DYSTROPHY, AVELLINO TYPE, MYHRE SYNDROME, SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CUTIS LAXA, AD, HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, SPERMATOGENIC FAILURE 7, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, LONG QT SYNDROME-3, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, ACUTE MYELOID LEUKEMIA, M6 TYPE, THROMBOCYTOPENIA 5, CONE-ROD DYSTROPHY 6, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MARSHALL SYNDROME, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, WOLFF-PARKINSON-WHITE SYNDROME, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, IMMUNODEFICIENCY 21, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, TOURETTE SYNDROME, {GILLES DE LA TOURETTE SYNDROME, SUSCEPTIBILITY TO}, CONE-ROD DYSTROPHY 2, GLUCOCORTICOID RESISTANCE, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, GILLESPIE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, ?CATARACT 45, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MENTAL RETARDATION, X-LINKED 99, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, ?DEAFNESS, AUTOSOMAL DOMINANT 68, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, HUNTINGTON DISEASE, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, CEREBRAL CAVERNOUS MALFORMATIONS-2, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, NEPHROTIC SYNDROME, TYPE 8, DYSTONIA-12, MENTAL RETARDATION, X-LINKED 96, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HEREDITARY PYROPOIKILOCYTOSIS, GLYCOGEN STORAGE DISEASE 0, MUSCLE, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, MENTAL RETARDATION, X-LINKED 41, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, DEAFNESS, AUTOSOMAL RECESSIVE 30, DEAFNESS, AUTOSOMAL DOMINANT 3A, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), ?MYOSCLEROSIS, CONGENITAL, PLATELET GLYCOPROTEIN IV DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 10, ECTOPIA LENTIS, FAMILIAL, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, {PARKINSON DISEASE 18}, PSEUDOHYPOALDOSTERONISM, TYPE IIB, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, SPONDYLOCOSTAL DYSOSTOSIS 5, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, HAMAMY SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SPINOCEREBELLAR ATAXIA 42, IMMUNODEFICIENCY 46, MYOGLOBINURIA, RECURRENT, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, DENT DISEASE 2, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, ENHANCED S-CONE SYNDROME, SUPRANUCLEAR PALSY, PROGRESSIVE, RETINITIS PIGMENTOSA-40, LONG QT SYNDROME 12, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, LONG QT SYNDROME 15, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 38, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, SPECIFIC GRANULE DEFICIENCY, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, CARASIL SYNDROME, VAN BUCHEM DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, MULTIPLE SYNOSTOSES SYNDROME 1, ?REYNOLDS SYNDROME, ?STEEL SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, TRICHOMEGALY, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, LEUKODYSTROPHY, HYPOMYELINATING, 11, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, MICROPHTHALMIA, SYNDROMIC 2, MULTIPLE ENDOCRINE NEOPLASIA IIA, SICK SINUS SYNDROME 2, LARSEN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, C3 DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 18, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFRONTONASAL DYSPLASIA, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, NAXOS DISEASE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, CARPENTER SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, HAY-WELLS SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, IMMUNODEFICIENCY 12, INFANTILE NEUROAXONAL DYSTROPHY 1, CULLER-JONES SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, CREATINE PHOSPHOKINASE, ELEVATED SERUM, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE IA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, PARKINSON DISEASE, JUVENILE, TYPE 2, ELLIPTOCYTOSIS-2, EIKEN SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOKALEMIC PERIODIC PARALYSIS 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, VENTRICULAR TACHYCARDIA, IDIOPATHIC, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, NAIL-PATELLA SYNDROME, IMAGE SYNDROME, CHERUBISM, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, CORTICAL MALFORMATIONS, OCCIPITAL, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, ABCD SYNDROME, THROMBOCYTHEMIA 2, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOLYSIS, FAMILIAL EXPANSILE, STICKLER SYNDROME, TYPE III, AGAMMAGLOBULINEMIA 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), AMELOGENESIS IMPERFECTA, TYPE IH, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, HOLOPROSENCEPHALY-5, IMMUNODEFICIENCY 24, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, CONE-ROD DYSTROPHY, X-LINKED, 3, NIJMEGEN BREAKAGE SYNDROME, TREACHER COLLINS SYNDROME 2, BLAU SYNDROME, SPINOCEREBELLAR ATAXIA 14, D-BIFUNCTIONAL PROTEIN DEFICIENCY, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, ARTHROGRYPOSIS, DISTAL, TYPE 8, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, PYCNODYSOSTOSIS, PITT-HOPKINS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PULMONARY HYPERTENSION, PRIMARY, 2, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, BRACHYDACTYLY, TYPE C, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CARDIOMYOPATHY, DILATED, 1NN, ?MULTIPLE SYNOSTOSES SYNDROME 3, CILIARY DYSKINESIA, PRIMARY, 33, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, HEMOCHROMATOSIS, TYPE 2B, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, BRACHYDACTYLY, TYPE A1, C, ICHTHYOSIS VULGARIS, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, NOONAN SYNDROME 9, DENYS-DRASH SYNDROME, MULTIPLE SYNOSTOSES SYNDROME 2, SEBASTIAN SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, TARSAL-CARPAL COALITION SYNDROME, FRAXE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, BEHR SYNDROME, MYOPATHY, TUBULAR AGGREGATE, 2, MALOUF SYNDROME, RABSON-MENDENHALL SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, METACARPAL 4-5 FUSION, SYMPHALANGISM, PROXIMAL, 1A, LI-FRAUMENI SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, RETINITIS PIGMENTOSA 37, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, KNOBLOCH SYNDROME 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, VENTRICULAR SEPTAL DEFECT 3, {MELANOMA, CUTANEOUS MALIGNANT, 3}, IMMUNODEFICIENCY 30, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, OVARIAN DYSGENESIS 1, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, GLYCOGEN STORAGE DISEASE VII, ?IMMUNODEFICIENCY 22, COLOBOMA, OCULAR, APPARENT MINERALOCORTICOID EXCESS, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, MENTAL RETARDATION, X-LINKED 19, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, EPITHELIAL RECURRENT EROSION DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, CEROID LIPOFUSCINOSIS, NEURONAL, 3, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LEUKODYSTROPHY, HYPOMYELINATING, 9, LYMPHEDEMA, HEREDITARY, ID, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, {OROFACIAL CLEFT 6}, RETT SYNDROME, CONGENITAL VARIANT, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, NEUROFIBROMATOSIS, TYPE 2, HYPEREKPLEXIA HEREDITARY, LEGG-CALVE-PERTHES DISEASE, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, ACHROMATOPSIA-3, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, CARDIOMYOPATHY, DILATED, 1U, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, WAARDENBURG SYNDROME, TYPE 4A, ?OSTEOGENESIS IMPERFECTA, TYPE X, KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH MYOPATHY AND FACIAL DYSMORPHISM, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CONGENITAL DIAPHRAGMATIC HERNIA, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), ALZHEIMER DISEASE, TYPE 4, IMMUNODEFICIENCY 43, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, TOENAIL DYSTROPHY, ISOLATED, CARDIOMYOPATHY, DILATED, 1HH, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MECKEL SYNDROME 10, ESSENTIAL HYPERTENSION, PARKINSON DISEASE 1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, TEMPLE-BARAITSER SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {BLEPHAROSPASM, PRIMARY BENIGN}, STIFF SKIN SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, AL-RAQAD SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, ?DYSTONIA, JUVENILE-ONSET, VISCERAL MYOPATHY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, MIRROR MOVEMENTS 1, ODONTOONYCHODERMAL DYSPLASIA, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, ALPORT SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, HOLOPROSENCEPHALY 11, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, 46XY SEX REVERSAL 6, MAY-HEGGLIN ANOMALY, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, PORENCEPHALY 2, ACROMICRIC DYSPLASIA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, NEPHROTIC SYNDROME, TYPE 3, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, APERT SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, EXOSTOSES, MULTIPLE, TYPE 2, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, IMMUNODEFICIENCY 9, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, ADENYLOSUCCINASE DEFICIENCY, ?IMMUNODEFICIENCY 37, ATELEIOTIC DWARFISM, INTERSTITIAL LUNG AND LIVER DISEASE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MYOPATHY, DISTAL, 4, STICKLER SYNDROME, TYPE I, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, HUTCHINSON-GILFORD PROGERIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AURICULOCONDYLAR SYNDROME 3, GLYCOGEN STORAGE DISEASE XII, APLASIA OF LACRIMAL AND SALIVARY GLANDS, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, PROGRESSIVE MYOCLONUS EPILEPSY WITH ATAXIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, MYXOMA, INTRACARDIAC, ATRIAL FIBRILLATION, FAMILIAL, 12, ?SPASTIC PARAPLEGIA 63, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, 46XY SEX REVERSAL 7, MUSCLE GLYCOGENOSIS, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, VESICOURETERAL REFLUX 3, BRUCK SYNDROME 2, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, PITT-HOPKINS-LIKE SYNDROME 2, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MULTIPLE ENDOCRINE NEOPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, CAFFEY DISEASE, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2, LOWE SYNDROME, ?BARDET-BIEDL SYNDROME 11, THROMBOCYTHEMIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, ALZHEIMER DISEASE-2, IMMUNODEFICIENCY 33, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, CORNELIA DE LANGE SYNDROME 3, SED CONGENITA, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), LYMPHOPROLIFERATIVE SYNDROME 1, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, {LEPROSY, SUSCEPTIBILITY TO}, EXUDATIVE VITREORETINOPATHY 4, DEAFNESS, AUTOSOMAL RECESSIVE 24, VOHWINKEL SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, LISSENCEPHALY 3, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, INFANTILE MYOFIBROMATOSIS 1, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, BLEEDING DISORDER, PLATELET-TYPE, 11, DIABETES INSIPIDUS, NEPHROGENIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LARYNGOONYCHOCUTANEOUS SYNDROME, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, TIETZ ALBINISM-DEAFNESS SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MAST CELL DISEASE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RETINAL CONE DYSTROPHY 4, ATAXIA-OCULOMOTOR APRAXIA 3, ATRIAL FIBRILLATION, FAMILIAL, 10, CARDIOMYOPATHY, HYPERTROPHIC, 7, [SHORT SLEEPER], ATELOSTEOGENESIS, TYPE III, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, {PARKINSON DISEASE 8}, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, RETINITIS PIGMENTOSA, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, PORENCEPHALY 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, ?PROGESTERONE RESISTANCE, EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 2, MANDIBULOACRAL DYSPLASIA, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 35, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, VAN BUCHEM DISEASE, TYPE 2, COMBINED HYPERLIPIDEMIA, FAMILIAL, BRUGADA SYNDROME 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?GLYCOPROTEIN IA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MENTAL RETARDATION, X-LINKED 102, CATARACT 16, MULTIPLE TYPES, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, SPLIT-HAND/FOOT MALFORMATION 6, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, DEAFNESS, AUTOSOMAL DOMINANT 41, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], CARDIOMYOPATHY, HYPERTROPHIC, 4, ?TETRA-AMELIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, BRACHYDACTYLY, TYPE A1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, LEBER CONGENITAL AMAUROSIS 17, WAARDENBURG SYNDROME, TYPE 4C, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, PELGER-HUET ANOMALY, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ENDOCRINE-CEREBROOSTEODYSPLASIA, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, ATRIAL SEPTAL DEFECT 2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AGAMMAGLOBULINEMIA 1, BRACHYDACTYLY, TYPE A2, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, CARPAL TUNNEL SYNDROME, FAMILIAL, IMMUNODEFICIENCY, COMMON VARIABLE, 13, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, GROWTH HORMONE INSENSITIVITY, PARTIAL, POROKERATOSIS 3, MULTIPLE TYPES, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, HYPERLYSINEMIA, LIPOPROTEIN LIPASE DEFICIENCY, XERODERMA PIGMENTOSUM, VARIANT TYPE, DICARBOXYLIC AMINOACIDURIA, SMITH-MAGENIS SYNDROME, DEAFNESS, X-LINKED 5, METACHONDROMATOSIS, SACCHAROPINURIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SED, MAROTEAUX TYPE, TARP SYNDROME, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, ECTOPIA LENTIS ET PUPILLAE, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, OSTEOGENESIS IMPERFECTA, TYPE XVII, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY, DEAFNESS, AUTOSOMAL DOMINANT 13, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, HETEROTOPIA, PERIVENTRICULAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, BARAITSER-WINTER SYNDROME 1, ?LICHTENSTEIN-KNORR SYNDROME, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, ?RETINITIS PIGMENTOSA 67, GLYCOGEN STORAGE DISEASE VI, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, MYOTONIC DYSTROPHY 1, COMPLEMENT FACTOR D DEFICIENCY, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, EPIDERMOLYSIS BULLOSA PRURIGINOSA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HOLOPROSENCEPHALY-7, MACHADO-JOSEPH DISEASE, AMINOACYLASE 1 DEFICIENCY, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, TOOTH AGENESIS, SELECTIVE, 7, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, DEAFNESS, AUTOSOMAL RECESSIVE 37, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, {AUTISM, SUSCEPTIBILITY TO, 18}, CENANI-LENZ SYNDACTYLY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, CARDIOMYOPATHY, DILATED, 1E, OLIGODONTIA-COLORECTAL CANCER SYNDROME, DIAMOND-BLACKFAN ANEMIA 8, CARDIOMYOPATHY, HYPERTROPHIC, 12, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, PRIMARY PULMONARY HYPERTENSION, COFFIN-SIRIS SYNDROME 3, RHEUMATOID ARTHRITIS, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), CYLINDROMATOSIS, FAMILIAL, EPIDERMAL NEVUS, HYPOMAGNESEMIA 6, RENAL, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NON-IMMUNE HYDROPS FETALIS, ?IMMUNODEFICIENCY 25, EVEN-PLUS SYNDROME, MODY, TYPE II, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LAMB-SHAFFER SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, ACNE INVERSA, FAMILIAL, 1, COMMON VARIABLE IMMUNODEFICIENCY 1, ?OSTEOGENESIS IMPERFECTA, TYPE XII, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, SPONDYLOPERIPHERAL DYSPLASIA, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DYSTONIA 25, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, HYPOCHONDROPLASIA, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, SPINOCEREBELLAR ATAXIA 17, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ?PRUNE BELLY SYNDROME, CORNEAL FLECK DYSTROPHY, DEAFNESS, AUTOSOMAL RECESSIVE 53, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, IMMUNODEFICIENCY 42, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ULNAR-MAMMARY SYNDROME, ADULT SYNDROME, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, CHONDRODYSPLASIA, GREBE TYPE, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, ATRIAL FIBRILLATION, FAMILIAL, 6, SEA-BLUE HISTIOCYTE DISEASE, XERODERMA PIGMENTOSUM, GROUP D, BRODY MYOPATHY, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, PEUTZ-JEGHERS SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, FECHTNER SYNDROME, ATRANSFERRINEMIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MOYAMOYA 6 WITH ACHALASIA, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, BOOMERANG DYSPLASIA, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, TRANSCOBALAMIN II DEFICIENCY, FOVEAL HYPOPLASIA 1, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, AURICULOCONDYLAR SYNDROME 2, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, LIMB-MAMMARY SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ACROCAPITOFEMORAL DYSPLASIA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, BRACHYDACTYLY, TYPE A1, D, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SERKAL SYNDROME, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, OSTEOGENESIS IMPERFECTA, TYPE I, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, POLYCYTHEMIA VERA, SOMATIC, MODY, TYPE I, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, OCULOECTODERMAL SYNDROME, GLYCOGEN STORAGE DISEASE IXC, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ALCOHOL DEPENDENCE, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, LEUKODYSTROPHY, HYPOMYELINATING, 12, CARDIOMYOPATHY, DILATED, 1JJ, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, DEAFNESS, AUTOSOMAL RECESSIVE 70, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, ALAGILLE SYNDROME 2, PLASMA FIBRONECTIN DEFICIENCY, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LIDDLE SYNDROME, PHYTANIC ACID STORAGE DISEASE, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, MUIR-TORRE SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, ATRIOVENTRICULAR SEPTAL DEFECT 5, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, RENAL ADYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, PALLISTER-HALL SYNDROME, ACNE INVERSA, FAMILIAL, 2, SPERMATOGENIC FAILURE 8, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, RING DERMOID OF CORNEA, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HETEROTAXY, VISCERAL, 5, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ADAMS-OLIVER SYNDROME 6, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SUPRAVALVAR AORTIC STENOSIS, EPISODIC ATAXIA, TYPE 2, ACNE INVERSA, FAMILIAL, 3, {GLIOMA SUSCEPTIBILITY 9}, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, GLIOMA SUSCEPTIBILITY 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, PERRY SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, ?IMMUNODEFICIENCY 16, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, PREMATURE OVARIAN FAILURE 7, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PITUITARY DEPENDENT HYPERCORTISOLISM, SPINOCEREBELLAR ATAXIA 36, AMELOGENESIS IMPERFECTA, TYPE IA, URBACH-WIETHE DISEASE, COWCHOCK SYNDROME, KERATOSIS, SEBORRHEIC, SOMATIC, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, SPINOCEREBELLAR ATAXIA 6, GALACTOSIALIDOSIS, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, HYPOMAGNESEMIA 2, RENAL, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, OSTEOGLOPHONIC DYSPLASIA, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CORNELIA DE LANGE SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, QUESTION MARK EARS, ISOLATED, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 1, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, MACROCEPHALY/AUTISM SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, OSTEOGENESIS IMPERFECTA, TYPE XIII, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?MYOFIBROMATOSIS, INFANTILE 2, DARIER DISEASE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, WIEDEMANN-STEINER SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, AGAMMAGLOBULINEMIA 6, GLAUCOMA 1, OPEN ANGLE, E, WAGNER SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, PARIETAL FORAMINA 1, VON WILLIBRAND DISEASE, TYPE 3, ALEXANDER DISEASE, CATARACT 21, MULTIPLE TYPES, TREACHER COLLINS SYNDROME 3, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, NEPHROTIC SYNDROME, TYPE 12, MENTAL RETARDATION, X-LINKED 90, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, DIAMOND-BLACKFAN ANEMIA 7, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HERMANSKY-PUDLAK SYNDROME 7, ?GLYCOGEN STORAGE DISEASE XIII, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, AMYOTROPHIC LATERAL SCLEROSIS 20, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4F, OTOPALATODIGITAL SYNDROME, TYPE II, DEAFNESS, DIGENIC GJB2/GJB6, DEAFNESS, AUTOSOMAL RECESSIVE 1A, DEAFNESS, DIGENIC, GJB2/GJB3, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, SELECTIVE T-CELL DEFECT, MULTIPLE ENDOCRINE NEOPLASIA IIB, CARDIOMYOPATHY, HYPERTROPHIC, 2, PULMONARY VENOOCCLUSIVE DISEASE 1, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, DYSTONIA-11, MYOCLONIC, CANDIDIASIS, FAMILIAL, 9, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, FRONTOTEMPORAL DEMENTIA, POROKERATOSIS 7, MULTIPLE TYPES, ?RETINAL ARTERIES, TORTUOSITY OF, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, OGDEN SYNDROME, NEUTROPENIA, CYCLIC, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, BECKWITH-WIEDEMANN SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, SECKEL SYNDROME 1, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, AORTIC ANEURYSM, FAMILIAL THORACIC 8, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, SYNDACTYLY, TYPE III, IMMUNODEFICIENCY 44, FAMILIAL COLORECTAL CANCER, OVARIAN HYPERSTIMULATION SYNDROME, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, KEPPEN-LUBINSKY SYNDROME, ?DYSTONIA 23, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, TYROSINEMIA, TYPE I, NOONAN SYNDROME 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, LIANG DISTAL MYOPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 6, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, KERATITIS, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, RETINITIS PIGMENTOSA 45, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, GLAUCOMA 1A, PRIMARY OPEN ANGLE, EXUDATIVE VITREORETINOPATHY 1, TOOTH AGENESIS, SELECTIVE, 1, WITH OR WITHOUT OROFACIAL CLEFT, CARDIOMYOPATHY, DILATED, 1A, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, DYSTONIA-PARKINSONISM, X-LINKED, LEUKEMIA, CHRONIC MYELOID, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 39, IMMUNODEFICIENCY, COMMON VARIABLE, 4, OSTEOGENESIS IMPERFECTA, TYPE XV, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PICK DISEASE, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, BRACHYOLMIA TYPE 3, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, PROSTATE CANCER 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ANEMIA, SIDEROBLASTIC, 4, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, ATELOSTEOGENESIS, TYPE I, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, WAARDENBURG SYNDROME, TYPE 2D, ATRIAL SEPTAL DEFECT 6, CORNEAL DYSTROPHY, CONGENITAL STROMAL, BART-PUMPHREY SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MEIER-GORLIN SYNDROME 5, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, RENAL CYSTS AND DIABETES SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, SVEINSSON CHOREORETINAL ATROPHY, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, RETICULATE ACROPIGMENTATION OF KITAMURA, TOOTH AGENESIS, SELECTIVE, 4, BROOKE-SPIEGLER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, LONG QT SYNDROME 14, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, OTOPALATODIGITAL SYNDROME, TYPE I, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, DYSTONIA 9, STICKLER SYNDROME, TYPE II, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, OPTIC ATROPHY PLUS SYNDROME, LACTASE DEFICIENCY, CONGENITAL, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CLEFT PALATE, ISOLATED, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, MEVALONIC ACIDURIA, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, NEPHROTIC SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, AVASCULAR NECROSIS OF THE FEMORAL HEAD, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, DEAFNESS, AUTOSOMAL DOMINANT 64, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, CORNELIA DE LANGE SYNDROME 2, IMMUNODEFICIENCY 11, CHOPS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOTRICHOSIS 8, AORTIC ANEURYSM, FAMILIAL THORACIC 6, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, CARDIOMYOPATHY, HYPERTROPHIC, 11, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, HOLOPROSENCEPHALY-3, ERYTHROCYTOSIS, FAMILIAL, 2, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, HYPOBETALIPOPROTEINEMIA, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, AICARDI-GOUTIERES SYNDROME 6, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, HEART-HAND SYNDROME, SLOVENIAN TYPE, TUMOR PREDISPOSITION SYNDROME, OVARIAN RESPONSE TO FSH STIMULATION, NEUROCUTANEOUS MELANOSIS, SOMATIC, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, LOEYS-DIETZ SYNDROME 4, ACROKERATOSIS VERRUCIFORMIS, REVESZ SYNDROME, CAMURATI-ENGELMANN DISEASE, PCWH SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, POPLITEAL PTERYGIUM SYNDROME 1, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PARKINSON DISEASE 19, JUVENILE-ONSET, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, DEJERINE-SOTTAS DISEASE, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, AORTIC VALVE DISEASE 2, DEAFNESS, AUTOSOMAL RECESSIVE 68, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC 6, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), GIANT AXONAL NEUROPATHY-1, USHER SYNDROME, TYPE 1G, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, PEROXISOME BIOGENESIS DISORDER 2B, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, SPLENIC HYPOPLASIA, CAPOS SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ENCEPHALOPATHY, NEONATAL SEVERE, FILS SYNDROME, [FLECK RETINA, FAMILIAL BENIGN], HYPOPLASTIC LEFT HEART SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, SCLEROSTEOSIS 2, HYPOPHOSPHATEMIC RICKETS, AR, AXENFELD-RIEGER SYNDROME, TYPE 1, SENIOR-LOKEN SYNDROME 6, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, LEFT VENTRICULAR NONCOMPACTION 7, COFFIN-SIRIS SYNDROME 4, DEAFNESS, AUTOSOMAL RECESSIVE 35, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, PREMATURE OVARIAN FAILURE 1, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, ?SPINOCEREBELLAR ATAXIA 26, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, ?CATARACT 30, PULVERULENT, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SMED STRUDWICK TYPE, WATSON SYNDROME, NEPHROTIC SYNDROME, TYPE 4, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, SORSBY FUNDUS DYSTROPHY, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MASA SYNDROME, CRASH SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, HUNTINGTON DISEASE-LIKE 2, BRACHYDACTYLY, TYPE B1, ACHROMATOPSIA 7, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, EPISODIC ATAXIA, TYPE 5, THANATOPHORIC DYSPLASIA, TYPE II, HYPERPARATHYROIDISM 1, FRASER SYNDROME, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, [NOVELTY SEEKING PERSONALITY], MYOPATHY, MYOFIBRILLAR, 2, VESICOURETERAL REFLUX 8, MYOPATHY, TUBULAR AGGREGATE, 1, HERMANSKY-PUDLAK SYNDROME 1, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, ?HYPERPROLACTINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, EBD, BART TYPE, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, PSEUDOHYPOPARATHYROIDISM IC, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 23, {MACULAR DEGENERATION, AGE-RELATED, 2}, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 1}, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, SPHEROCYTOSIS, TYPE 3, NEPHRONOPHTHISIS 4, DU PAN SYNDROME, IRIS HYPOPLASIA AND GLAUCOMA, LIEBENBERG SYNDROME, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, HYPERFERRITINEMIA-CATARACT SYNDROME, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, CATSHL SYNDROME, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, LYNCH SYNDROME I, JACKSON-WEISS SYNDROME, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, ARTHROGRYPOSIS, DISTAL, TYPE 2A, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, WAARDENBURG SYNDROME, TYPE 3, FACTOR X DEFICIENCY, SPLIT-HAND/FOOT MALFORMATION 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, SCHOPF-SCHULZ-PASSARGE SYNDROME, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, ?DEAFNESS, X-LINKED 6, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, CHOREA, HEREDITARY BENIGN, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, GLYCOGEN STORAGE DISEASE 0, LIVER, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, KNIEST DYSPLASIA, OPTIC NERVE HYPOPLASIA, HYPERPARATHYROIDISM, NEONATAL, CALCIUM OXALATE UROLITHIASIS, PARASTREMMATIC DWARFISM, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, PARKINSON DISEASE 20, EARLY-ONSET, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, ?PRECOCIOUS PUBERTY, CENTRAL, 1, MALONYL-COA DECARBOXYLASE DEFICIENCY, WOLCOTT-RALLISON SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2, HYPOPHOSPHATASIA, CHILDHOOD, CRANIOSYNOSTOSIS, TYPE 1, PAGET DISEASE OF BONE 3, DEAFNESS, AUTOSOMAL RECESSIVE 84A, THROMBOCYTOPENIA 4, UTERINE LEIOMYOMA, CRANIOSYNOSTOSIS 6, MECKEL SYNDROME 4, MYOTONIC DYSTROPHY 2, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEPHROTIC SYNDROME, TYPE 6, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, TANGIER DISEASE, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

1116

CALM1, TSC2, DCPS, LRPAP1, LAMB1, SQSTM1, PITX1, RASGRP2, HSPB1, DYRK1B, PKD1, CD3E, GNA11, LBR, CUL3, CIITA, CNGB1, COL3A1, FTL, PHEX, KRIT1, A2M, HDC, SOX2, CD82, PTPRO, UBA1, CDC6, CHD8, SPTA1, LYZ, B2M, LHCGR, PGR, PTPN14, NOG, VARS2, DST, ITGA3, PEX13, RAB7A, JPH1, ITGA2B, ADRB2, GAS8, G6PC, TCF7L2, FZD4, WNK1, ASPM, PRKCH, GFI1B, GYS2, SBF1, ACTC1, SALL1, CREBBP, PTPRQ, GHR, MAFB, AQP2, PHKB, VLDLR, ERBB2, TNFRSF10B, KL, NFKB2, AXIN2, IGBP1, TEAD1, CNGB3, PHKA2, CALCR, AR, IFNAR2, THBS4, CD79A, GNAS, SCGB1A1, THRA, MPL, DAG1, FSHB, HCN4, ADCY1, BLK, CASK, HMGA1, PTH, GABBR2, LAMA1, TNXB, PIK3CD, POLH, AGRN, SCNN1G, AIFM1, CBL, SMARCE1, CCND1, DHH, JAK2, ANK1, SPARC, SHANK3, NKX2-1, JUP, MIB1, ITPR1, BMP1, VEGFC, HSPD1, ROR2, CD36, TUBGCP4, NKX2-5, T, NTF3, RYR1, TNNT2, GPD1, AVPR2, HTR2A, ADRB3, FXYD2, KMT2A, DUSP6, TYK2, SMC3, ARG1, MT-CO1, GATA1, TAB2, TGFBR1, ALDOA, CHRDL1, IMPAD1, GNAI3, CTNNB1, IL2RA, NDUFS3, SUFU, AP4M1, SMAD4, NLGN3, LRRK2, DVL3, CSF2RB, INPP5E, GDNF, CEP290, INSR, FOXC1, HDAC6, SLC2A1, HBA1, LEP, LAMA3, HRG, SOX9, GP6, PPP2R1A, HES7, OSMR, AKT1, RIPK4, INPPL1, AIP, PPIB, ARL6IP1, SIPA1L3, PRKCD, UBE3A, TNFRSF4, DYRK1A, CHRNA1, ZNF423, HGF, TWIST1, KIF11, PCK2, CSNK1D, SLC1A1, IL1B, NOTCH3, HSPA9, EFNB1, PLCB4, RAF1, ECHS1, BCR, HAMP, CRYAB, NOD2, PSTPIP1, CC2D1A, MTM1, COL6A3, TTC19, SART3, POLA1, CSF1R, TNFSF11, PAX7, TNFRSF11A, SLC9A1, GNAO1, IKZF1, AQP5, PYGL, TUBG1, HTR1A, KNG1, RASSF1, LAMA2, SEC23A, NONO, PCDH15, MSX2, CXCR4, SOS2, GATA4, EGLN1, SPG7, BCL10, RARS, SPRY4, STAT3, MT-CO2, EDN1, FLT3, ADA, COL5A2, WNT10A, RANBP2, LPL, RASA1, PTPRC, COL4A3, FLG, EPHA2, STAR, PTPN12, PLOD2, BDNF, CALR, CTCF, IFNGR1, GHRL, EPS8, ATXN3, CNBP, POLR3B, CSRP3, ALB, FGF10, TSC1, CNGA1, PAX4, YAP1, GCH1, GH1, DMPK, WNT10B, MAD1L1, GPI, PEX14, MLYCD, ZFPM2, PLCB1, IRX5, MMP1, NAA10, VPS11, ACTB, WNT7A, NEK2, MEF2A, PSEN1, JPH3, ALPL, GFAP, GPSM2, ZIC1, CDKN1B, CCT5, BMP4, CEBPE, CDK4, GJA1, G6PC3, HNRNPK, FGA, MYH7, FGF23, MYO1E, WT1, ERBB4, COL4A5, IKBKAP, SPTAN1, PROK2, GDF5, B9D2, CYCS, TGFBI, POLE, PTPN1, PRF1, ACY1, CDC73, CACNB4, CACNA1D, ARHGDIA, MITF, KCNMB1, MYH3, CAPN3, EPHB2, TEK, MVD, ASCC1, NR2E3, ISG15, GNAI2, IL2RG, CD81, RYR2, SF3B4, ATN1, AURKA, SHOC2, CTNNA3, TGFB2, LRP6, MMP2, TRPC3, MAP2K2, HLA-C, SERPINA1, ADCY6, GUCY2D, SP7, TRPV4, HOMER2, IL12B, ZIC2, NOTCH1, ATP2A1, MYO5A, CABP4, MXI1, IL11RA, ATP2B3, NPM1, EDNRA, ECM1, MEF2C, NR2F2, SCARB2, EGR2, IL12RB1, CFL2, AFF4, PAK3, MYO18B, KIF5C, ESR1, FSHR, COL2A1, C2, CD247, SPRED1, RBM10, MC2R, COL4A6, LRP5, PIKFYVE, TIMP3, MEN1, GPC3, PRKG1, CACNA1A, RBPJ, TF, PRICKLE2, CASR, FANCA, RB1, LAMB3, AICDA, STX11, GRIN2A, GPHN, ACTA2, ADD1, ATF6, DMD, MALT1, NCF1, STIM1, SMAD6, DPH1, TSG101, DNM1, BLNK, ADAR, BHLHE41, F13A1, FLT4, SMAD9, GRM1, MYBPC3, CRB1, KLC2, EEF2, ITPR3, AASS, BMP2, COL4A4, TNFAIP3, DLL3, ALOX5, EDNRB, HSD11B2, NDN, SMC1A, AKAP9, DRD2, EIF4G1, VDR, FGFR1, ASCL1, DVL1, PARK2, APOA1, TP53, CNGA3, EGFR, SOX18, HCFC1, LRP2, IKBKB, MFN2, ADRA2B, MAPK8IP1, SNTA1, TNFRSF11B, VANGL2, OPTN, HAX1, NR5A1, PRKCG, HK1, FGF5, NF1, TJP2, NT5C2, UMOD, AKAP10, MAF, ESRRB, ITGA6, HRAS, TLR2, MPDZ, TCAP, CLCF1, POLD1, SH2B3, IRF5, DLG3, CHRNE, ZAP70, KCNMA1, NODAL, PPP2R5D, PDHX, IL7R, XPR1, TRAC, ACTG1, ATP2A2, FOXG1, DNMT3A, PRKCSH, ITGB4, ENO3, SOST, COL1A1, GATA6, RRAS2, DDX58, EIF2AK3, SPTLC1, STAT1, APPL1, EXOC8, TUBA4A, CACNA1C, ATXN1, SLC34A1, KCNJ8, NOTCH2, SLC2A4, UQCRC2, PLA2G2A, DNMT1, LRP4, ACTN4, TINF2, IL6, PIK3R1, PHB, DCN, ADAMTSL4, ATP1A3, POLR1C, ACTN1, APC, FLNB, FTH1, PDE3A, CTSK, AP2S1, WNT4, RNASEL, ADAM17, PTPRF, ALOXE3, SMAD3, SLC25A20, COMP, HSPG2, TNF, CFD, PDGFB, ODC1, SCRIB, F10, SERPINE1, IL21, ATIC, PEX5, ERBB3, PDE4D, CAV3, F2, TNNI3, PAFAH1B1, CTNNA1, PRPF31, LCT, ADSL, RAD21, SCNN1A, TPM1, AKT3, FAS, CDK6, IKBKG, WNK4, CTSA, MSX1, PLCD1, DEAF1, MUC1, NRXN1, CYP11B2, CYBA, MAG, AGT, IGKC, MCM6, KCNJ6, TAF6, CDK5, TRAPPC2, PPP1R3A, KDM1A, SNCA, NPHP4, CDH1, BTK, APOB, ZEB2, SOS1, NEB, FRZB, STK11, FGF17, MYO3A, IL10, LIPE, IL21R, CDKN1C, BCOR, FBP1, KAT5, FGF3, FGFR4, COL10A1, NOP56, PIK3CA, GNAL, BMPER, JAG1, HNRNPA1, GFPT1, POT1, FZD6, GRID2, PRKAG2, GATA3, PRKACG, BAP1, CTSD, MUSK, ACTA1, VRK1, EIF2B2, MTNR1B, GRIP1, MYOM1, PTPRJ, SMARCA4, RUNX1, DSP, RB1CC1, RPS7, QDPR, LPAR6, FIBP, IRF1, WNT1, NCSTN, IGF2, MAP3K8, PGK1, NOS3, CTPS1, NR1I3, LAMC2, CAD, MYD88, GATA2, CCM2, KIF5A, ACVRL1, SH3BP2, EDA, MET, ATP1A2, NTRK1, COL1A2, ITGA2, DDOST, MSH6, ABCA1, PER2, LAMB2, PLOD3, ORAI1, GUCY1A3, LMNA, MMP13, CACNA1F, CACNB2, KIT, POLR1D, PRICKLE1, DNM1L, TNNT1, EEF1A2, C3, UCP1, RUNX2, TNFRSF1A, SPRY2, TBX3, GUCY2C, IFNG, GSC, IRF8, RPS6KA3, MLLT11, ERCC8, VCP, INS, GLIS3, CDON, EZH2, CYLD, COL7A1, ATP2B2, FCGR2A, GDI1, CD44, ITGB3, RDX, AMHR2, GLI3, AGTR1, PPM1D, FOXO1, PAX2, LMX1B, HLA-DRB1, CRBN, SYN1, RORC, TP63, OTX2, IL10RB, ACVR1, GRIN2B, KIF1B, EIF2B1, FKBP14, BRCA1, ITGB2, NR3C1, FN1, CNNM2, PSAP, ITPR2, CYBB, ACACA, DIABLO, FOXC2, ABCB11, KLF1, COL18A1, BMPR1A, GFI1, FBN1, AKT2, TBX21, USP9X, DCTN1, COL25A1, RPSA, LAMC3, VANGL1, RHO, SYNGAP1, TSHR, MYC, PTEN, FGFR3, PAX3, SLC9A3R1, GSN, PPP2R2B, STAT2, PTPRZ1, GABRG2, P2RX1, GDF2, FAH, PFKM, CLN3, SERPINC1, IRS1, CORO1A, FGF14, SMARCB1, CD40LG, LHB, IL4R, NOS2, DHCR7, TLR4, STAMBP, PTGER2, WNT3, PHKG2, STXBP1, MED25, JAK3, FGF9, TBP, PCBD1, MYH9, COL11A1, TGFB1, AFP, WAS, KITLG, APOE, TCF4, TAF2, FADD, IL13, EIF4A3, ATM, FGF16, PDE6B, BAX, ABCA4, ABCC9, PIP5K1C, TLL1, CACNA1S, STRADA, COL4A1, TRH, CLASP1, APP, TCN2, PTH1R, ABCC8, CRB2, IRS2, ACTN2, TACR3, SCGB3A2, CD27, OCLN, HTRA1, NPR2, IRF6, HMGA2, CD46, ACVR1B, PTS, TUFM, GCGR, PCLO, PSENEN, CAV1, NF2, DISC1, DRD4, GNB4, KISS1, PRKAR1A, ICK, DES, PRPH, ACOX1, MAP3K1, RAG1, GDF6, DNM2, MAPT, ITGB6, SOX5, SEMA3A, ADCY10, MLH1, NBN, IRF7, PPARG, P4HB, COL5A1, PIK3R5, ARHGEF9, DTNBP1, DMP1, PTHLH, SYNJ1, GAN, KISS1R, ELN, DDR2, SOX10, PAX8, COL27A1, PLG, CDKN2A, ARFGEF2, RPS14, PARK7, THPO, NCF4, TFRC, CASP8, VIM, SERPINH1, DACT1, HNF1B, PTPN11, IL10RA, PLA2G6, S1PR2, TRIM32, ITGA8, NFKBIA, CPT1C, MYL3, ERCC2, SNAI2, PDGFRB, CTLA4, CD40, CPT1A, GHSR, OCRL, PLCE1, THRB, DDX3X, DLL4, ANXA5, PTCH1, CATSPER1, HSD17B4, KCNH1, KRAS, PHYH, TNFRSF13C, GLI2, PAX6, SYN2, EIF2B4, PIK3R2, TNC, WRN, ETV6, CDAN1, ZHX2, CPOX, LRP1, COL6A1, PITX3, TPM3, CD79B, CRX, CACNA1B, CEP63, LHX3, NHLRC1, PTCH2, LIFR, MECOM, COPA, COL11A2, SLC9A3, GNB3, NR0B1, PRX, IGHM, IFNGR2, HTT, PRLR, RELN, FMR1, PDGFRA, NCF2, EP300, PSEN2, TAF1, MAX, MYO6, UBB, ZBTB16, IGF1, NLRP1, ITK, PCNA, GLUD1, ADCY5, NUP93, CACNA2D4, JAM3, PCK1, BMPR2, PLIN1, QARS, PLK4, TTR, RET, KCNJ11, CACNA1G, VHL, REN, CCL11, SMARCA2, AHSG, TBK1, HNF4A, LDHA, MYCN, VWF, TBX6, MECP2, MVK, MYLK, TGFB3, ACAN, DNAJC6, MYOC, P2RX2, FOXF1, GCK, NFKB1, TUBB, MAK, NRAS, FOXP3, MTOR, PLAU, IL1RN, LAMA4, BAG3, CCND2, GNAQ, ELANE, PRKDC, WNT5A, IHH, TBX5, IGF1R, LDLR, GYS1, SEC63, ABCC2, NEFL, SLC25A4, SOX17, AXIN1, TUBA1A, CHRNA4, AMPD2, TBC1D7, CCL2, COL6A2, PHKA1, ITCH, SELE, SYP, TUBB3, RAG2, ACADM, NPPA, TH, BRAF, CHRM3, PLN, TUBB4A, PNPT1, SKIV2L, NR2F1, SUMF1, EPOR, LCK, CSF3R, ACE, NME1, FLNA, NR0B2, BIN1, RAB23, GJB2, RETN, RAI1, HPCA, BMPR1B, PLA2G5, NGF, CASP10, PDHA1, ATP1B1, IL17RC, SCN5A, SETD1A, VCAN, IRF3, STX1B, EXT2, POLR3A, DLX5, GATA5, CD19, CARD11, POMC, MYLK2, TBXA2R, DLC1, PITX2, MSH2, COL17A1, FGFR2, AMH, PLCG2, DRD5, NPHS1, MARS, RPL11, GAS1, COL4A2, L1CAM, OPA1, ATP5A1, FLNC, ERCC3, PEX19, DGKE, FGF20, DCC, FASLG, ITGA7, DNMT3B, PRKACA, GNRH1, SELP, CFTR, MYH11, ADAM10, ATR, CR2, TGFBR2, KDR, PORCN, PPP2R1B, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Signaling molecules and interactionYesN5.02512e-181.92890

{PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, BRACHYDACTYLY, TYPE A1, D, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, ?GLYCOPROTEIN IA DEFICIENCY, ?NEUTROPHILIA, HEREDITARY, IMMUNODEFICIENCY, COMMON VARIABLE, 5, IMMUNODEFICIENCY 15, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, CAPOS SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, ?IMMUNODEFICIENCY 39, PULMONARY VENOOCCLUSIVE DISEASE 1, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, RETINITIS PIGMENTOSA, DYSTONIA-11, MYOCLONIC, CANDIDIASIS, FAMILIAL, 9, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ICHTHYOSIS VULGARIS, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, KOWARSKI SYNDROME, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?PROGESTERONE RESISTANCE, MULTIPLE SYNOSTOSES SYNDROME 1, ?RETINAL ARTERIES, TORTUOSITY OF, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, LARON DWARFISM, ALPHA-2-MACROGLOBULIN DEFICIENCY, EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 2, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, MULTIPLE SYNOSTOSES SYNDROME 2, MULTIPLE ENDOCRINE NEOPLASIA IIA, {EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY TO}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO}, {EPILEPSY, IDIOPATHIC GENERALIZED, 10}, CARDIOMYOPATHY, DILATED, 3B, VON WILLEBRAND DISEASE, TYPE 1, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, C3 DEFICIENCY, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, MICROVILLUS INCLUSION DISEASE, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, SELECTIVE T-CELL DEFECT, C2 DEFICIENCY, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, SYNDACTYLY, TYPE III, BENIGN FAMILIAL HEMATURIA, IMMUNODEFICIENCY 44, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ANGELMAN SYNDROME, FAMILIAL COLORECTAL CANCER, OVARIAN HYPERSTIMULATION SYNDROME, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, EPIDERMOLYSIS BULLOSA, PRETIBIAL, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], BURKITT LYMPHOMA, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1B, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, HAY-WELLS SYNDROME, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, LYSYL HYDROXYLASE 3 DEFICIENCY, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, EMBERGER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PARKINSON DISEASE 4, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, BRACHYDACTYLY, TYPE E2, HYPER-IGD SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I, ATRIAL SEPTAL DEFECT 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MODY, TYPE III, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, CARPAL TUNNEL SYNDROME, FAMILIAL, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, KERATITIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, GROWTH HORMONE INSENSITIVITY, PARTIAL, KEUTEL SYNDROME, POROKERATOSIS 3, MULTIPLE TYPES, HEMOCHROMATOSIS TYPE 1, MYELOPEROXIDASE DEFICIENCY, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, GLAUCOMA 1A, PRIMARY OPEN ANGLE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FRAGILE X SYNDROME, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, ?DYSTONIA 23, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, COLE-CARPENTER SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, HOLOPROSENCEPHALY-3, LISSENCEPHALY 5, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, THROMBOCYTHEMIA 2, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, ?CANDIDIASIS, FAMILIAL, 8, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, LATERAL MENINGOCELE SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, ABCD SYNDROME, ?CARDIOMYOPATHY, DILATED, 2A, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, ROUSSY-LEVY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XVII, DEAFNESS, AUTOSOMAL RECESSIVE 39, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, PREMATURE OVARIAN FAILURE 7, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STICKLER SYNDROME, TYPE III, DEAFNESS, AUTOSOMAL DOMINANT 13, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, QUEBEC PLATELET DISORDER, AMELOGENESIS IMPERFECTA, TYPE IH, PICK DISEASE, NEUROPATHY, INFLAMMATORY DEMYELINATING, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, DEJERINE-SOTTAS DISEASE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, MULTIPLE FIBROADENOMAS OF THE BREAST, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, AORTIC ANEURYSM, FAMILIAL THORACIC 4, CORTICAL MALFORMATIONS, OCCIPITAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, COMPLEMENT FACTOR D DEFICIENCY, ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY, MELNICK-NEEDLES SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, EPIDERMOLYSIS BULLOSA PRURIGINOSA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MACHADO-JOSEPH DISEASE, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, WAARDENBURG SYNDROME, TYPE 2D, ATRIAL SEPTAL DEFECT 6, SPHEROCYTOSIS, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, HEPATIC ADENOMA, SOMATIC, CORNEAL DYSTROPHY, CONGENITAL STROMAL, NEUROPATHY, RECURRENT, WITH PRESSURE PALSIES, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, LEUKEMIA, CHRONIC MYELOID, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ACUTE MYELOID LEUKEMIA, M6 TYPE, ?STEEL SYNDROME, BRACHYDACTYLY, TYPE C, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, CARDIOMYOPATHY, DILATED, 1NN, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1E, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PERIODIC FEVER, FAMILIAL, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 4, CHARCOT-MARIE-TOOTHE DISEASE, AXONAL, TYPE 2P, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, DYSTONIA 27, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4, BRACHYDACTYLY, TYPE A1, C, DEAFNESS, AUTOSOMAL RECESSIVE 29, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, CHOANAL ATRESIA AND LYMPHEDEMA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, PRIMARY PULMONARY HYPERTENSION, OSTEOLYSIS, FAMILIAL EXPANSILE, [BLOOD GROUP, DUFFY SYSTEM], DENYS-DRASH SYNDROME, ?SPINOCEREBELLAR ATAXIA 41, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, TOOTH AGENESIS, SELECTIVE, 7, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, OTOPALATODIGITAL SYNDROME, TYPE I, TARSAL-CARPAL COALITION SYNDROME, FRAXE, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, DYSTONIA 9, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, STICKLER SYNDROME, TYPE II, MACULAR DYSTROPHY, RETINAL, 2, CORNEAL DYSTROPHY, AVELLINO TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SEGAWA SYNDROME, RECESSIVE, COMMON VARIABLE IMMUNODEFICIENCY 1, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, ?IMMUNODEFICIENCY 25, DEAFNESS, AUTOSOMAL DOMINANT 56, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, KNOBLOCH SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CRYPTORCHIDISM, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 3}, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, {MELANOMA, CUTANEOUS MALIGNANT, 2}, IMMUNODEFICIENCY 30, ?OSTEOGENESIS IMPERFECTA, TYPE XII, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ADRENAL CORTICAL CARCINOMA, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, FRAGILE X TREMOR/ATAXIA SYNDROME, SPONDYLOPERIPHERAL DYSPLASIA, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, AVASCULAR NECROSIS OF THE FEMORAL HEAD, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, CORNEAL DYSTROPHY, GROENOUW TYPE I, ?MYASTHENIC SYNDROME, CONGENITAL, 18, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BECKER MUSCULAR DYSTROPHY, DEAFNESS, AUTOSOMAL DOMINANT 64, OROFACIAL CLEFT 11, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, RETINITIS PIGMENTOSA 41, PULMONARY HYPERTENSION, PRIMARY, 3, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, ?IMMUNODEFICIENCY 22, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, COLOBOMA, OCULAR, OSTEOGENESIS IMPERFECTA, TYPE III, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, HYPOTRICHOSIS 8, AORTIC ANEURYSM, FAMILIAL THORACIC 6, TRYPSINOGEN DEFICIENCY, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, KOSAKI OVERGROWTH SYNDROME, BRACHYDACTYLY, TYPE B2, EPITHELIAL RECURRENT EROSION DYSTROPHY, IMMUNODEFICIENCY 42, HYPERPROINSULINEMIA, ERYTHROCYTOSIS, FAMILIAL, 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, ESCOBAR SYNDROME, PIEBALDISM, IRIDOGONIODYSGENESIS, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, HETEROTOPIA, PERIVENTRICULAR, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, DIABETES INSIPIDUS, NEPHROGENIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, ADULT SYNDROME, ESTROGEN RESISTANCE, HYPOBETALIPOPROTEINEMIA, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, OVARIAN DYSGENESIS 1, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, HYPEREKPLEXIA HEREDITARY, CHONDRODYSPLASIA, GREBE TYPE, OVARIAN RESPONSE TO FSH STIMULATION, LEGG-CALVE-PERTHES DISEASE, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, CD8 DEFICIENCY, FAMILIAL, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, SEA-BLUE HISTIOCYTE DISEASE, LEOPARD SYNDROME 1, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, FAILURE OF TOOTH ERUPTION, PRIMARY, PROTEUS SYNDROME, SOMATIC, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CAMURATI-ENGELMANN DISEASE, PSEUDOACHONDROPLASIA, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, CALCIUM OXALATE UROLITHIASIS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, EHLERS-DANLOS SYNDROME, TYPE 3, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ECTOPIA LENTIS, FAMILIAL, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, PARKINSON DISEASE 1, ?OSTEOGENESIS IMPERFECTA, TYPE X, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, PORETTI-BOLTSHAUSER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, {OBESITY, SEVERE, SUSCEPTIBILITY TO, BMIQ9}, VON WILLEBRAND DISEASE, PLATELET-TYPE, {HASHIMOTO THYROIDITIS}, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, DEAFNESS, AUTOSOMAL RECESSIVE 24, CONGENITAL DIAPHRAGMATIC HERNIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FRONTOMETAPHYSEAL DYSPLASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, LOEYS-DIETZ SYNDROME 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ALZHEIMER DISEASE, TYPE 4, AORTIC VALVE DISEASE 2, DEAFNESS, AUTOSOMAL RECESSIVE 68, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, IMMUNODEFICIENCY 43, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ALPORT SYNDROME, AUTOSOMAL DOMINANT, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 1}, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 11, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, FOVEAL HYPOPLASIA 1, EBD, BART TYPE, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, DEAFNESS, AUTOSOMAL DOMINANT 41, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, GLIOMA SUSCEPTIBILITY 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, STIFF SKIN SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AXENFELD-RIEGER SYNDROME, TYPE 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, LIMB-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, {ASPERGER SYNDROME SUSCEPTIBILITY, X-LINKED 2}, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {BLEPHAROSPASM, PRIMARY BENIGN}, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, COLD-INDUCED SWEATING SYNDROME 2, BEARE-STEVENSON CUTIS GYRATA SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, KAPPA LIGHT CHAIN DEFICIENCY, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, ATRIAL SEPTAL DEFECT 5, {AUTISM SUSCEPTIBILITY, X-LINKED 2}, MENTAL RETARDATION, X-LINKED, DEAFNESS, AUTOSOMAL RECESSIVE 84A, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, INFANTILE MYOFIBROMATOSIS 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, LEFT VENTRICULAR NONCOMPACTION 7, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, VISCERAL MYOPATHY, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, BETHLEM MYOPATHY 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ATELEIOTIC DWARFISM, WISKOTT-ALDRICH SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, TANGIER DISEASE, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, MIRROR MOVEMENTS 1, VENTRICULAR SEPTAL DEFECT 1, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, PREMATURE OVARIAN FAILURE 1, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, ALAGILLE SYNDROME 2, CLEFT PALATE, ISOLATED, IMMUNODEFICIENCY, COMMON VARIABLE, 2, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 14, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, AYME-GRIPP SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FIBROCHONDROGENESIS 2, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A, HOLOPROSENCEPHALY 11, ?CATARACT 30, PULVERULENT, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, MARFAN LIPODYSTROPHY SYNDROME, 46,XX SEX REVERSAL, TYPE 2, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CATARACT 6, MULTIPLE TYPES, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SMED STRUDWICK TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, STICKLER SYNDROME, TYPE I, PORENCEPHALY 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, NEPHROTIC SYNDROME, TYPE 4, RENAL ADYSPLASIA, ACROMICRIC DYSPLASIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CUTIS LAXA, AD, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, HYPOMAGNESEMIA 3, RENAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, SPERMATOGENIC FAILURE 8, APERT SYNDROME, HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY, RING DERMOID OF CORNEA, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, MASA SYNDROME, CRASH SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MARSHALL SYNDROME, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, HYPOGONADOTROPIC HYPOGONADISM 7 WITHOUT ANOSMIA, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, LYMPHEDEMA, HEREDITARY, ID, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SPINOCEREBELLAR ATAXIA 5, FRASER SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CZECH DYSPLASIA, IMMUNODEFICIENCY 21, HYPOPHOSPHATASIA, CHILDHOOD, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, TOURETTE SYNDROME, {GILLES DE LA TOURETTE SYNDROME, SUSCEPTIBILITY TO}, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CONE-ROD DYSTROPHY 2, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLUCOCORTICOID RESISTANCE, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, TRANSALDOLASE DEFICIENCY, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, {NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO}, [NOVELTY SEEKING PERSONALITY], GILLESPIE SYNDROME, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, VESICOURETERAL REFLUX 8, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, SUPRAVALVAR AORTIC STENOSIS, SPINOCEREBELLAR ATAXIA 28, ?HYPERPROLACTINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ACNE INVERSA, FAMILIAL, 3, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, PIERSON SYNDROME, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PULMONARY HYPERTENSION, PRIMARY, 2, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, SPHEROCYTOSIS, TYPE 3, THYROID HORMONE RESISTANCE, CARDIOMYOPATHY, DILATED, 1JJ, DU PAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, PERRY SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, FEINGOLD SYNDROME, ?IMMUNODEFICIENCY 16, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, AMELOGENESIS IMPERFECTA, TYPE IA, URBACH-WIETHE DISEASE, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ATRIOVENTRICULAR SEPTAL DEFECT 4, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, JACKSON-WEISS SYNDROME, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, DYSTONIA-12, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], DEAFNESS, AUTOSOMAL RECESSIVE 53, TUBEROUS SCLEROSIS 2, MENTAL RETARDATION, X-LINKED 96, WAARDENBURG SYNDROME, TYPE 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, MAST CELL DISEASE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, OSTEOGENESIS IMPERFECTA, TYPE II, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, HEREDITARY PYROPOIKILOCYTOSIS, CAFFEY DISEASE, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, ?DEAFNESS, X-LINKED 6, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, THROMBOCYTHEMIA 3, MYASTHENIC SYNDROME, CONGENITAL, 2A, SLOW-CHANNEL, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, ALZHEIMER DISEASE-2, WHIM SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, DEAFNESS, AUTOSOMAL RECESSIVE 30, LI-FRAUMENI SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?MYOSCLEROSIS, CONGENITAL, CORPUS CALLOSUM, PARTIAL AGENESIS OF, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, FACTOR XIIIA DEFICIENCY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, OPTIC NERVE HYPOPLASIA, MYHRE SYNDROME, MACROCEPHALY/AUTISM SYNDROME, HERMANSKY-PUDLAK SYNDROME 9, NEUROFIBROMATOSIS, TYPE 2, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ALCOHOL DEPENDENCE, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, ?MYOFIBROMATOSIS, INFANTILE 2, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, {LEPROSY, SUSCEPTIBILITY TO}, LISSENCEPHALY 3, SECKEL SYNDROME 9, [SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN], [SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN], {UV-INDUCED SKIN DAMAGE}, PCWH SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, ENCEPHALOPATHY, NEONATAL SEVERE, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, ?PRECOCIOUS PUBERTY, CENTRAL, 1, AGAMMAGLOBULINEMIA 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WAGNER SYNDROME 1, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, BLEEDING DISORDER, PLATELET-TYPE, 11, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, ELLIPTOCYTOSIS-2, PANCREATIC CANCER/MELANOMA SYNDROME, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, LEUKOCYTE ADHESION DEFICIENCY, CATARACT 21, MULTIPLE TYPES, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, EIKEN SYNDROME, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, PAGET DISEASE OF BONE 3, BRACHYDACTYLY, TYPE A2, LARYNGOONYCHOCUTANEOUS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, THROMBOCYTOPENIA 4, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, NEPHROTIC SYNDROME, TYPE 12, LYMPHOPROLIFERATIVE SYNDROME 2, MENTAL RETARDATION, X-LINKED 90, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, DIAMOND-BLACKFAN ANEMIA 7, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, IMMUNODEFICIENCY 46, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, LOEYS-DIETZ SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CARDIOMYOPATHY, HYPERTROPHIC, 7, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

585

CALM1, APOE, LAMB1, PLOD3, PKD1, GP1BA, CUL3, CIITA, COL3A1, RPL5, HDC, CD82, SPTA1, B2M, LHCGR, PTPN14, NOG, EGR2, ITGA3, IL1B, DNM2, MS4A1, PRKCH, GFI1B, ATN1, ACTC1, CREBBP, PTPRQ, RAF1, VLDLR, TNFRSF10B, ITGA8, APOA1, POMC, AR, IFNAR2, GNAS, THRA, MPL, DAG1, MTOR, LAMA1, HMGA1, PTH, LEP, BMPR1A, IFNG, CBL, CHRND, CCND1, JAK2, NRXN1, SPARC, COL4A6, MIB1, CNTN5, VEGFC, HSPD1, T, AVPR2, HTR2A, ADRB3, TP63, DEAF1, TNC, ARG1, ACVR1B, GATA1, TGFBR1, AGL, CTNNB1, IL2RA, GRIN2A, GABBR2, AP4M1, SMAD4, NLGN3, CD40LG, SLC2A1, LAMA3, HRG, TUBB, AKT1, TPI1, LHB, EPHB2, HGF, A2M, EDAR, NOTCH3, EFNB1, CLDN1, GH1, DIABLO, CALCR, EIF2B1, TNFSF11, AICDA, GNAO1, PMP22, TUBG1, CD59, KNG1, LAMA2, PIK3R2, COL5A2, CXCR4, GATA4, SPG7, STAT3, SCRIB, FLT3, HLA-B, PTPN11, COL6A1, COL4A3, EPHA2, EDARADD, ANK3, BDNF, GLRA1, CD36, JAM3, EPS8, ATXN3, ALB, MC4R, NDUFS2, FSHB, PARK7, APOB, TRAIP, CNTNAP1, MMP1, MT-CO2, MTNR1B, PGK1, CACNA1B, PSEN1, COL11A2, TNXB, ITGA2B, TSG101, HNRNPK, FGA, IL4R, WT1, NR2F1, COL4A5, SPTAN1, PROK2, GDF5, CYCS, TGFBI, GRM6, PTPN1, PRF1, S1PR2, RXFP2, IRS1, FOXN1, CD79B, CLDN19, IL2RG, CD81, SF3B4, TGFBR2, AURKA, CSF2RB, TGFB2, LRP6, CNTN2, TRPC3, GABRA1, HLA-C, SERPINA1, GABRD, ADCY6, NME1, SP7, ACTN1, IL12B, NOTCH1, MYCN, IL17RA, IL11RA, EDNRA, CD27, MEF2C, NR2F2, IL12RB1, VCAN, STAR, KIF5C, MVK, FSHR, C2, CD247, PAX7, PTH1R, CDH3, GP6, PRKG1, CASR, ACTA2, IL7R, TNFRSF11A, GPHN, SNAP25, DMD, MC1R, SMAD6, ALPL, SHH, MYOC, IGF1, NF2, FLT4, SMAD9, GHR, KLC2, COL4A4, BMP2, EDNRB, TNFRSF11B, AKAP9, DRD3, RUNX1, TP53, HLA-DQB1, LRP2, IKBKB, CASP8, ADRA2B, MAPK8IP1, SNCA, KCNQ2, ERBB4, PTPRJ, IRF1, MAF, ITGA6, KIT, BCR, CLCF1, COL6A2, DLG3, CHRNE, KRT8, PAX3, TRAC, P2RX1, PRKCSH, TGFB1, P4HB, FTH1, CFTR, TACR3, STAT1, CACNA1C, NOTCH2, PLG, DNMT1, ACTN4, IL6, DCN, PCSK9, PCNA, CHRNB1, FOXF1, GNRHR, MGP, EPOR, PROM1, SMAD3, TLR2, ADAM17, HSPG2, CFD, SERPINE1, IL21, ATIC, ERBB3, MPDZ, C3AR1, F2, TNNI3, PAFAH1B1, ADRB2, FAS, IGBP1, HLA-G, ANK1, MAG, AGT, IGKC, CDK5, CDH1, BTK, PDCD1, PLAU, MYO3A, FMR1, IL21R, LAMB2, MYC, COL10A1, PIK3CA, GABRA2, PRKCG, TBK1, GRID2, ECM1, COL2A1, PRSS1, ACTA1, DNM1, GRIP1, ITPR3, DRD2, HTR1A, IL10, RB1CC1, EGFR, LPAR6, IGF2, CD8A, NOS3, LAMC2, TNF, GATA2, KIF5A, ACVRL1, EDA, MET, SQSTM1, COL1A2, ITGA2, ABCA1, COMP, DCX, OSMR, LYZ, NLGN4X, MMP13, GNAQ, NFKBIA, LRSAM1, SDC3, IRF8, CD44, C3, HMMR, TNFRSF1A, SPRY2, TSHB, GP9, TALDO1, CLDN16, WAS, USH2A, INS, CDON, HAX1, COL7A1, ITGB3, AMHR2, ITPR1, AGTR1, CHRNA2, FOXO1, PAX2, HLA-DRB1, IFNGR2, CNTN1, RORC, VHL, IL10RB, GRIN2B, RDX, BRCA1, ITGB2, NR3C1, FN1, TUBB3, BIN1, ITPR2, ACACA, COL18A1, ACKR1, FBN1, THBS4, TBX21, DCTN1, COL27A1, LAMC3, CDK4, HNF1A, TSHR, PTEN, F13A1, SLC9A3R1, THBD, STAT2, PTPRZ1, GABRG2, GDF2, SSR4, PRKCD, NOS2, TLR4, CSF1R, NR5A1, JAK3, COL11A1, ITGB4, ACVR1, KITLG, FADD, IL13, AMH, TYK2, BAX, TLL1, STX11, TRH, APP, GRM1, HRAS, IRS2, ACTN2, CALR, OCLN, ZAP70, NDUFB11, GRIK2, PRLR, PTPRF, PDGFB, CAV1, DRD4, COL1A1, CHRNG, MYD88, ITGB6, MPO, IRF7, PPARG, COL5A1, PTHLH, KISS1R, ELN, DDR2, SOX10, COL6A3, CDKN2A, THPO, BMP4, VIM, CLDN14, SERPINH1, TFRC, BLOC1S6, AFG3L2, SNAI2, PDGFRB, CD40, POU1F1, HLA-DQA1, THRB, ERBB2, ANXA5, WNT7A, PRSS2, TNFRSF13C, PAX6, MC3R, TRAF3IP2, GP1BB, LRP1, GHSR, PGR, ARFGEF2, CDKN1B, COPA, GNAI2, GNB3, AGRN, TJP2, HTT, RELN, COL4A2, MPZ, EP300, PHOX2A, TNFRSF4, ZBTB16, PTPRC, IFNGR1, NUP214, BMPR2, TNFRSF13B, EDN1, TTR, PTGER2, GJA1, CCL11, SOX9, COL4A1, VWF, MECP2, COL17A1, MC2R, TGFB3, ACAN, IGFBP7, P2RX2, CTLA4, LAMB3, MYO5B, CHRNA1, FOXP3, IL1RN, LAMA4, CCND2, MMP2, PRKDC, IGF1R, LDLR, ATP1A3, ICOS, TUBA1A, CHRNA4, NUP93, CCL2, SELE, SYP, MUSK, ACADM, TH, CHRM3, KAT5, RUNX2, SELP, LCK, CSF3R, FLNA, MYH11, NGF, COL25A1, RETN, CASP10, ATP1B1, IL17RC, ATM, CASK, ESR1, PRKACA, GATA5, CD19, IL10RA, TBXA2R, DLC1, PITX2, FLG, FGFR2, DRD5, LIFR, RPL11, PDGFRA, L1CAM, RET, SPTBN2, DCC, FASLG, ITGA7, DNMT3B, GNRH1, NHP2, NR0B2, BMPR1B, ANK2, GCGR, KDR, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Transport and catabolismYesN5.06793e-152.16750

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, PEROXISOME BIOGENESIS DISORDER 5B, FACTOR V DEFICIENCY, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, HYPER-IGE RECURRENT INFECTION SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, MANNOSIDOSIS, ALPHA-, TYPES I AND II, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), OTOPALATODIGITAL SYNDROME, TYPE II, MENTAL RETARDATION, X-LINKED 63, ACHONDROPLASIA, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, {PARKINSON DISEASE 8}, SELECTIVE T-CELL DEFECT, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, ?IMMUNODEFICIENCY 39, CEROID LIPOFUSCINOSIS NEURONAL 6, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, RETINITIS PIGMENTOSA, DYSTONIA-11, MYOCLONIC, CARASIL SYNDROME, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, DANON DISEASE, MIYOSHI MUSCULAR DYSTROPHY 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, PERIODONTITIS 1, JUVENILE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, ?PROGESTERONE RESISTANCE, MULTIPLE SYNOSTOSES SYNDROME 1, ?RETINAL ARTERIES, TORTUOSITY OF, SALLA DISEASE, LARON DWARFISM, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY, RENAL TUBULAR DYSGENESIS, GAUCHER DISEASE, TYPE IIIC, HAIM-MUNK SYNDROME, MACULAR DYSTROPHY, RETINAL, 2, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, ATRIOVENTRICULAR SEPTAL DEFECT 3, AORTIC ANEURYSM, FAMILIAL THORACIC 8, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, MULTIPLE ENDOCRINE NEOPLASIA IIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, ICHTHYOSIS, X-LINKED, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, C3 DEFICIENCY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, HYPOCHONDROPLASIA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, MICROVILLUS INCLUSION DISEASE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, C2 DEFICIENCY, CK SYNDROME, SYNDACTYLY, TYPE III, BENIGN FAMILIAL HEMATURIA, PEROXISOME BIOGENESIS DISORDER 14B, ATRANSFERRINEMIA, FRANK-TER HAAR SYNDROME, ANGELMAN SYNDROME, FAMILIAL COLORECTAL CANCER, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, MUCOPOLYSACCHARIDOSIS TYPE IIID, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, HAY-WELLS SYNDROME, HEIMLER SYNDROME 2, SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, LOEYS-DIETZ SYNDROME 1, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ?JOUBERT SYNDROME 22, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, GM2-GANGLIOSIDOSIS, AB VARIANT, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, HYPER-IGD SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, CLOVE SYNDROME, SOMATIC, MUCOPOLYSACCHARIDOSIS VII, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, XANTHINURIA, TYPE I, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT, GROWTH HORMONE INSENSITIVITY, PARTIAL, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, HMG-COA SYNTHASE-2 DEFICIENCY, POROKERATOSIS 3, MULTIPLE TYPES, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, HYPOPLASTIC LEFT HEART SYNDROME 1, PARKINSON DISEASE 19, JUVENILE-ONSET, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MUCOLIPIDOSIS III ALPHA/BETA, MALONYL-COA DECARBOXYLASE DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, PEROXISOME BIOGENESIS DISORDER 11B, ASPARTYLGLUCOSAMINURIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, MYOPATHY, DISTAL, TATEYAMA TYPE, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, KANZAKI DISEASE, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, PEROXISOME BIOGENESIS DISORDER 7B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LATERAL MENINGOCELE SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, ?CARDIOMYOPATHY, DILATED, 2A, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DEAFNESS, AUTOSOMAL RECESSIVE 39, MUCOLIPIDOSIS IV, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, DYSAUTONOMIA, FAMILIAL, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, AGAMMAGLOBULINEMIA 3, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), QUEBEC PLATELET DISORDER, CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE, 46,XX SEX REVERSAL, TYPE 2, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, HEIMLER SYNDROME 1, IMMUNODEFICIENCY 20, HETEROTOPIA, PERIVENTRICULAR, ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE, PARKINSON DISEASE 21, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, MUCOPOLYSACCHARIDOSIS IVA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), ?MIRROR MOVEMENTS 3, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, BENT BONE DYSPLASIA SYNDROME, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ADULT SYNDROME, BONE MARROW FAILURE SYNDROME 1, CORNEAL DYSTROPHY, AVELLINO TYPE, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, COMBINED FACTOR V AND VIII DEFICIENCY, MELNICK-NEEDLES SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BLAU SYNDROME, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V, FARBER LIPOGRANULOMATOSIS, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, MUCOLIPIDOSIS II ALPHA/BETA, PYCNODYSOSTOSIS, CORNEAL DYSTROPHY, CONGENITAL STROMAL, MENTAL RETARDATION, X-LINKED 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, EPIDERMOLYTIC HYPERKERATOSIS, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, CORPUS CALLOSUM, PARTIAL AGENESIS OF, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, PARKINSON DISEASE 20, EARLY-ONSET, LOEYS-DIETZ SYNDROME 3, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, 3MC SYNDROME 2, ?IMMUNODEFICIENCY 22, PEROXISOME BIOGENESIS DISORDER 3B, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, ALZHEIMER DISEASE-2, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ALAGILLE SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, HEMOPHILIA A, TOOTH AGENESIS, SELECTIVE, 7, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, PEROXISOME BIOGENESIS DISORDER 6B, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, OTOPALATODIGITAL SYNDROME, TYPE I, TARSAL-CARPAL COALITION SYNDROME, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, MUCOPOLYSACCHARIDOSIS IH, CYSTINOSIS, OCULAR NONNEPHROPATHIC, MYELOPEROXIDASE DEFICIENCY, EPIDERMAL NEVUS, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, IMMUNODEFICIENCY 35, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SADDAN, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, CLEFT PALATE, ISOLATED, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MEVALONIC ACIDURIA, COMMON VARIABLE IMMUNODEFICIENCY 1, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, DUCHENNE MUSCULAR DYSTROPHY, ALPHA-2-MACROGLOBULIN DEFICIENCY, SPINOCEREBELLAR ATAXIA 21, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, ADRENAL CORTICAL CARCINOMA, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, PEROXISOME BIOGENESIS DISORDER 8B, ?MUCOPOLYSACCHARIDOSIS TYPE IX, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BECKER MUSCULAR DYSTROPHY, PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER), DOYNE HONEYCOMB DEGENERATION OF RETINA, OROFACIAL CLEFT 11, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, KRABBE DISEASE, ATYPICAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, KRABBE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CORNEAL FLECK DYSTROPHY, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, C1Q DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, KOSAKI OVERGROWTH SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, MUCOPOLYSACCHARIDOSIS, MPS-III-A, POROKERATOSIS 1, MULTIPLE TYPES, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, CEROID LIPOFUSCINOSIS, NEURONAL, 3, PIEBALDISM, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, PYRUVATE CARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, 3MC SYNDROME 1, ?PARKINSONISM WITH SPASTICITY, X-LINKED, HYPOBETALIPOPROTEINEMIA, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, SEA-BLUE HISTIOCYTE DISEASE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, ?GLYCOPROTEIN IA DEFICIENCY, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, REVESZ SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE, CAMURATI-ENGELMANN DISEASE, PSEUDOACHONDROPLASIA, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, CALCIUM OXALATE UROLITHIASIS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 5, PEUTZ-JEGHERS SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, LYMPHEDEMA, HEREDITARY, IA, {LEPROSY, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, CEROID LIPOFUSCINOSIS, NEURONAL, 1, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, DEAFNESS, AUTOSOMAL RECESSIVE 24, CONGENITAL DIAPHRAGMATIC HERNIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, IMMUNODEFICIENCY 44, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, RETINITIS PIGMENTOSA 73, AORTIC VALVE DISEASE 2, FUCOSIDOSIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), IMMUNODEFICIENCY 43, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, GAUCHER DISEASE, PERINATAL LETHAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, CEROID LIPOFUSCINOSIS, NEURONAL, 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, HMG-COA LYASE DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), CEROID LIPOFUSCINOSIS, NEURONAL, 7, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, STUTTERING, FAMILIAL PERSISTENT, 1, OSTEOGENESIS IMPERFECTA, TYPE III, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, NIEMANN-PICK DISEASE TYPE C1, HOLOPROSENCEPHALY-3, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, USHER SYNDROME TYPE 3B, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, HYPERPROINSULINEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, DEMENTIA, FAMILIAL, NONSPECIFIC, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, OOCYTE MATURATION DEFECT 2, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, GLIOMA SUSCEPTIBILITY 1, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CHYLOMICRON RETENTION DISEASE, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, COMBINED SAP DEFICIENCY, LIMB-MAMMARY SYNDROME, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, PEROXISOME BIOGENESIS DISORDER 4B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CHOROID PLEXUS PAPILLOMA, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, BURKITT LYMPHOMA, GRISCELLI SYNDROME, TYPE 1, LOEYS-DIETZ SYNDROME 5, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, GLAUCOMA 1, OPEN ANGLE, E, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY 8, CORNEAL DYSTROPHY, GROENOUW TYPE I, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, LEUKODYSTROPHY, HYPOMYELINATING, 12, MYOTONIC DYSTROPHY 2, MARINESCO-SJOGREN SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, PAPILLON-LEFEVRE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, AMYOTROPHIC LATERAL SCLEROSIS 17, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ?ATRIAL FIBRILLATION 15, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, LYMPHEDEMA, HEREDITARY, ID, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, BRACHYDACTYLY, TYPE B2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?CATARACT 30, PULVERULENT, PHYTANIC ACID STORAGE DISEASE, 46XY SEX REVERSAL 6, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, AMYOTROPHIC LATERAL SCLEROSIS 19, CATARACT 6, MULTIPLE TYPES, TRIFUNCTIONAL PROTEIN DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS IS, HYPEROXALURIA, PRIMARY, TYPE 1, MYHRE SYNDROME, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, {PARKINSON DISEASE 17}, RENAL ADYSPLASIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, RETINITIS PIGMENTOSA 18, C1R/C1S DEFICIENCY, COMBINED, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LADD SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE 2, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, MOHR-TRANEBJAERG SYNDROME, {PSORIASIS 15, PUSTULAR, SUSCEPTIBILITY TO}, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, RETINITIS PIGMENTOSA 41, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, MASA SYNDROME, CRASH SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, PREMATURE AGING SYNDROME, PENTTINEN TYPE, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, THANATOPHORIC DYSPLASIA, TYPE II, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, SPINOCEREBELLAR ATAXIA 5, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MANNOSIDOSIS, BETA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, GAUCHER DISEASE, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CONE-ROD DYSTROPHY 2, MUCOLIPIDOSIS III GAMMA, ZIMMERMANN-LABAND SYNDROME 2, BARAITSER-WINTER SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, EPILEPSY, PROGRESSIVE MYOCLONIC 1A (UNVERRICHT AND LUNDBORG), NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SUPRAVALVAR AORTIC STENOSIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {GLIOMA SUSCEPTIBILITY 9}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PEELING SKIN SYNDROME 4, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, OCULODENTODIGITAL DYSPLASIA, LIEBENBERG SYNDROME, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MISMATCH REPAIR CANCER SYNDROME, FEINGOLD SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, CATSHL SYNDROME, NEUTROPENIA, CYCLIC, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, MUCOPOLYSACCHARIDOSIS II, KERATOSIS, SEBORRHEIC, SOMATIC, CANDIDIASIS, FAMILIAL, 4, AUTOSOMAL RECESSIVE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, LYNCH SYNDROME I, JACKSON-WEISS SYNDROME, BRACHYDACTYLY, TYPE E2, {BUDD-CHIARI SYNDROME}, BRUCK SYNDROME 2, INCONTINENTIA PIGMENTI, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, GALACTOSIALIDOSIS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, WAARDENBURG SYNDROME, TYPE 2A, CAFFEY DISEASE, NIEMANN-PICK DISEASE, TYPE A, SPASTIC PARAPLEGIA AND PSYCHOMOTOR RETARDATION WITH OR WITHOUT SEIZURES, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, GM1-GANGLIOSIDOSIS, TYPE I, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, CORNELIA DE LANGE SYNDROME 4, GLYCOGEN STORAGE DISEASE II, HUNTINGTON DISEASE, NIEMANN-PICK DISEASE, TYPE C2, IMMUNODEFICIENCY 33, WHIM SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LI-FRAUMENI SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PLATELET GLYCOPROTEIN IV DEFICIENCY, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, GAUCHER DISEASE, TYPE III, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?MYOFIBROMATOSIS, INFANTILE 2, CHILD SYNDROME, METACHROMATIC LEUKODYSTROPHY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, WRINKLY SKIN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 17, LISSENCEPHALY 3, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, INFANTILE MYOFIBROMATOSIS 1, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 6, LEUKOCYTE ADHESION DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, GM1-GANGLIOSIDOSIS, TYPE II, CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, PAGET DISEASE OF BONE 3, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, GM1-GANGLIOSIDOSIS, TYPE III, SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CEROID LIPOFUSCINOSIS, NEURONAL, 10, TIETZ ALBINISM-DEAFNESS SYNDROME, MAST CELL DISEASE, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, LIPOID ADRENAL HYPERPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, IMMUNODEFICIENCY 46, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, NEPHROTIC SYNDROME, TYPE 6, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, SMITH-KINGSMORE SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, CARDIOMYOPATHY, HYPERTROPHIC, 7, CEROID LIPOFUSCINOSIS, NEURONAL, 2, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

509

CALM1, APOE, SQSTM1, AMACR, CLN3, CUL3, CIITA, BMPR1A, ATP6V1B1, SFTPA2, GUSB, LRRK2, VMA21, NSDHL, B2M, SLC17A5, AKT2, NOG, EPHA2, IL1B, RAB7A, GNPTAB, ARFGEF2, NCF4, ASPM, GFI1B, TGFBR2, DNAI2, CREBBP, DYNC2H1, PEX5, NF2, ERBB2, KL, APOA1, POMC, IFNAR2, IDS, GNAS, PICALM, IGF2R, MTOR, ASAH1, LEP, CTSA, CTSF, TUBB2B, COMP, RPL5, CLEC7A, AP1S2, MIB1, VEGFC, HSPD1, TECR, HCN1, ABCD4, ADRB3, TP63, DNAJC6, TYK2, CAV3, TGFBR1, ALDOA, AGL, CTNNB1, IL2RA, AP4M1, SMAD4, CTSK, HARS, C1R, CD40LG, PDGFRB, CTSD, PRPF3, PPP2R1A, TUBB, AKT1, TRAC, AURKA, UBE3A, SH3PXD2B, NOS2, HGF, A2M, GALC, PTPRO, PEX13, NOTCH3, FAR1, LAMP2, CALCR, XDH, NOD2, AP4S1, PEX26, MASP1, AQP5, KNG1, LHCGR, PIK3R2, DNAL4, CXCR4, THBS4, SPG7, HADHB, VPS11, HLA-B, PTPN11, PEX12, CTSC, STAR, FCGR3A, HLA-DQB1, MBL2, CALR, CTNS, LRP6, LIPA, TF, KRT1, TAP2, PEX14, MLYCD, CYBA, APOB, MMP1, F5, PGK1, ACTN1, AP4B1, VPS37A, NPC1, CDK4, IDUA, BAAT, PITX1, LMAN1, TGFBI, GALNS, PRF1, AP5Z1, IRS1, GNAI2, IL2RG, SOX9, TGFB2, MMP2, PLAU, HLA-C, DRD3, NME1, HBA1, IDH2, COL4A3, NAGA, CBS, CSTB, GPI, ATP6AP2, SCARB2, EHHADH, C2, MAP3K1, PTH, SCP2, PIKFYVE, TCIRG1, PRKG1, AP4E1, EEF2, STS, ACTB, STX11, STAT3, NCF1, UCHL1, GNPTG, TSG101, FOLR1, SFTPA1, IGF1, RASA1, FLT4, SRP72, CD36, GHR, GMPPB, PEX11B, NFKB2, BMP2, HMGCL, AP1S3, NAGLU, ERBB3, TP53, LRP2, NCF2, TUBB8, CASP8, SH3GL1, MAPK8IP1, SNCA, OPTN, HAX1, ERBB4, IRF1, TUBB2A, TUBB4A, KIT, TLR2, SCYL1, AGPAT2, USH2A, PEX1, BARD1, USP8, VPS45, CYBB, KRT8, ACVRL1, ACTG1, ALB, TGFB1, PIP5K1C, DVL1, CD79A, SPTLC1, APPL1, F8, SLC2A4, PEX3, DNMT1, FCGR2B, ACTN4, GM2A, IL6, PEX10, DCN, PCSK9, AGA, DHFR, VPS35, PEX16, PROM1, SMAD3, IKBKB, HSPG2, ESR1, DDX58, SERPINE1, MSR1, SOD1, ARL6IP1, F2, TNNI3, ADRB2, RAD21, IGBP1, IKBKG, HEXB, AP2S1, CAV1, ATP6V1B2, AGT, UBQLN2, CDH1, MANBA, STK11, IL10, ARSB, PDE6D, PNPLA2, COL1A1, AGPS, PIK3CA, ABCD1, ACSL4, SIL1, JAG1, C1QC, POT1, TBK1, RBPJ, HMGCS2, DNM1, ACP2, DRD2, HTR1A, CBL, RB1CC1, EGFR, IGF2, NOS3, SORT1, TNF, MYD88, IL21, KIF5A, NPC2, MET, HEXA, ITGA2, GAA, CEL, NFKBIA, ACP5, DYNC1H1, CD44, C3, TMEM173, SPRY2, PTPN1, PMVK, STAMBP, HAO1, INS, PAM16, MYO5A, SGSH, ITGB3, DAO, SMPD1, RPS14, FOXO1, STAT1, SYN1, PEX6, GLA, COL4A1, GRIN2B, RDX, PLK4, ITGB2, FN1, TUBB3, PSAP, PHYH, ATP5A1, DCTN1, SLC9A3R1, CHMP2B, RHO, TSHR, AQP2, FGFR3, ABCD3, STAT2, RYR2, PFKM, SSR4, ATXN2, PRKCD, IL4R, CHEK2, TLR4, CSF1R, SYNJ1, AP3B1, NTRK1, ACVR1, FADD, IL13, TIMM8A, PPT1, NPM1, GBA, PLOD2, APP, HRAS, CD82, ACTN2, SCGB3A2, OCLN, HTRA1, PEX7, TINF2, TUFM, MFSD8, CASK, PDGFB, FUCA1, MPV17, TPP1, FGFR4, CNBP, ACOX1, TUBA4A, DNM2, TAP1, TUBB1, GLB1, MPO, IRF7, PPARG, AGTR1, PTHLH, SLC11A2, EFEMP1, MYC, SLC35A2, BTK, PLG, MAN2B1, BMP4, VIM, NEU1, TFRC, HIP1, CD40, HLA-DQA1, ATP6V0A2, MITF, CSTA, DVL3, TAF1, KRAS, TUBA1A, ATP1B1, ZAP70, IDH1, LRP1, ARSA, PGR, AGXT, COPA, IKBKAP, RPL11, IFNG, HLA-DRB1, HTT, PMS2, TUBG1, EP300, EPHX2, AP1S1, COLEC11, GNS, CLN5, JAM3, HRG, TUBA8, KCNJ11, GJA1, DYSF, MCOLN1, SPTBN2, MVK, TGFB3, CASR, DMD, MYO5B, NUP155, C1QA, GNAQ, ELANE, MRPL3, IGF1R, LDLR, SEC63, HLA-G, ITCH, OGDH, MUSK, GNRH1, SNAP29, DDOST, HGSNAT, SUMF1, SELP, LCK, FLNA, DNAJC13, BIN1, HSD17B4, NGF, RPL35A, ATM, AHCY, IRF3, NFKB1, FCGR2A, PRKACA, INSR, HYAL1, FGFR2, PACS1, GNPAT, MYCN, PDGFRA, L1CAM, RET, PEX19, HFE, HACE1, DNAJC3, SMAD6, SAR1B, CFTR, STX16, PEX2, CR2, PIK3R1, KDR, IQSEC2, PC, CORO1A, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Inflammatory mediator regulation of TRP channelsYesN0.03766934.92152

CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, SPINOCEREBELLAR ATAXIA 14, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, METATROPIC DYSPLASIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HYPOPARATHYROIDISM FAMILIAL ISOLATED, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, SUPRAVALVAR AORTIC STENOSIS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AURICULOCONDYLAR SYNDROME 3, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, AORTIC VALVE DISEASE 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, PSEUDOHYPOPARATHYROIDISM IA, RENAL TUBULAR DYSGENESIS, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HYPERPROINSULINEMIA, PERIODIC FEVER, FAMILIAL, SPINOCEREBELLAR ATAXIA 15, ESSENTIAL HYPERTENSION, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, PITUITARY DEPENDENT HYPERCORTISOLISM, OVARIAN HYPERSTIMULATION SYNDROME, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, KERATOSIS, SEBORRHEIC, SOMATIC, LONG QT SYNDROME 14, AURICULOCONDYLAR SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, OSSEOUS HETEROPLASIA, PROGRESSIVE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, EPIDERMAL NEVUS, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, {PSORIASIS SUSCEPTIBILITY 1}, INFANTILE NEUROAXONAL DYSTROPHY 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, NOONAN SYNDROME 4, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLIOMA SUSCEPTIBILITY 1, ALCOHOL DEPENDENCE, ADRENAL CORTICAL CARCINOMA, AURICULOCONDYLAR SYNDROME 1, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, OLMSTED SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, VENTRICULAR TACHYCARDIA, IDIOPATHIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, PARASTREMMATIC DWARFISM, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?IMMUNODEFICIENCY 22, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SPINOCEREBELLAR ATAXIA 17, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, BLEEDING DISORDER, PLATELET-TYPE, 11, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 12, METACHONDROMATOSIS, SED, MAROTEAUX TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?FIBROMATOSIS, GINGIVAL, 1, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, DIABETES INSIPIDUS, NEPHROGENIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, OVARIAN DYSGENESIS 1, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, ?PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, OVARIAN RESPONSE TO FSH STIMULATION, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, BRACHYOLMIA TYPE 3, EPISODIC PAIN SYNDROME, FAMILIAL, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

82

LCK, PLIN1, MEF2A, VLDLR, GP6, CALM1, PLCB1, REN, CDK5, PRKCD, CBL, KCNMA1, PRKACA, EGFR, IGF1, ADRB2, PIK3R5, PTGER2, PIK3R2, AGTR1, NTRK1, GNAS, PTPN11, ATM, SOS2, TBP, IL6, CASR, TGFB1, MTOR, NFKB1, EDNRA, ESR1, MEF2C, ITPR3, ALOX5, PLA2G2A, PIK3CD, AKT1, NGF, ITPR2, SOS1, FSHR, PLCG2, PRKACG, BAX, PTH, GNAQ, ZHX2, IL1B, PCSK9, INS, AVPR2, NOS2, PLA2G6, ITPR1, PIK3CA, TP53, EDN1, HRAS, HLA-C, PRKCH, PRKCG, MYC, SMAD6, TRPV3, CFTR, TRPV4, ADCY6, SLC9A3R1, TNFRSF1A, HTR2A, STAT3, ADCY1, ADCY5, PLCB4, GNAI2, SCARB2, LDLR, CTNNB1, TRPA1, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 20, 22, 3, 4, 5, 6, 7, 8, 9, X0
Small cell lung cancerYesN1.52319e-065.22162

CORNEAL DYSTROPHY, LATTICE TYPE I, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, OSTEOGENESIS IMPERFECTA, TYPE I, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, CORTICAL MALFORMATIONS, OCCIPITAL, CZECH DYSPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, IMMUNODEFICIENCY 15, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, CARDIOMYOPATHY, DILATED, 1JJ, PORENCEPHALY 2, EPIDERMOLYSIS BULLOSA PRURIGINOSA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, STICKLER SYNDROME, TYPE I, CAMURATI-ENGELMANN DISEASE, PORETTI-BOLTSHAUSER SYNDROME, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LYSYL HYDROXYLASE 3 DEFICIENCY, LISSENCEPHALY 5, PORENCEPHALY 1, SUPRAVALVAR AORTIC STENOSIS, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, ?RETINAL ARTERIES, TORTUOSITY OF, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EBD, BART TYPE, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, GLIOMA SUSCEPTIBILITY 1, EPITHELIAL RECURRENT EROSION DYSTROPHY, OSTEOGENESIS IMPERFECTA, TYPE IV, ALPORT SYNDROME, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE III, INCONTINENTIA PIGMENTI, HOLOPROSENCEPHALY-3, PERIODIC FEVER, FAMILIAL, FEINGOLD SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ESSENTIAL HYPERTENSION, ?GLYCOPROTEIN IA DEFICIENCY, PREMATURE OVARIAN FAILURE 7, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, AMELOGENESIS IMPERFECTA, TYPE IA, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, BENIGN FAMILIAL HEMATURIA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, KERATOSIS, SEBORRHEIC, SOMATIC, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, EPIDERMOLYSIS BULLOSA, PRETIBIAL, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, BURKITT LYMPHOMA, MYHRE SYNDROME, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, EPIDERMAL NEVUS, ALPORT SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ?DEAFNESS, X-LINKED 6, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, KNOBLOCH SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, IMMUNODEFICIENCY 33, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADRENAL CORTICAL CARCINOMA, SPERMATOGENIC FAILURE 8, SED CONGENITA, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, MACROCEPHALY/AUTISM SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, CORNEAL DYSTROPHY, GROENOUW TYPE I, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ERYTHROCYTOSIS, FAMILIAL, 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, PIERSON SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, SMED STRUDWICK TYPE, CORNEAL DYSTROPHY, AVELLINO TYPE, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, LARYNGOONYCHOCUTANEOUS SYNDROME, THROMBOCYTOPENIA 4, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, OSTEOLYSIS, FAMILIAL EXPANSILE, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LEGG-CALVE-PERTHES DISEASE, ATAXIA-OCULOMOTOR APRAXIA 3, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

80

DNMT1, TUBG1, LAMB1, SHH, NFKB1, CTNNB1, AURKA, MYC, TGFBI, SMAD4, PTEN, NOS2, COL4A1, LAMC2, LAMA2, IKBKG, PIK3CA, PIK3R2, PIK3CD, COL17A1, MYCN, ITGA2B, KMT2D, ITGB3, DAG1, LAMA3, TGFB1, LAMB3, VHL, ESR1, MAP3K1, COL7A1, PLOD3, LAMA1, COL1A2, AKT3, AKT1, FN1, NFKBIA, PRKDC, COL4A4, ITGA6, AKT2, COL4A3, CCND1, CDKN1B, ITGA3, COL4A6, TNFRSF11A, PCNA, LAMB2, COL4A5, COL18A1, NR5A1, CYCS, TP53, HSPD1, LAMA4, HRAS, MAX, CDK4, GFI1B, COL4A2, RB1, NR0B2, TLR4, PIK3R5, TNFRSF1A, TNF, CDK6, MYD88, PIK3R1, COL2A1, PLG, LAMC3, CREBBP, IKBKB, MTOR, RARB, ITGA2

1, 10, 11, 12, 13, 14, 16, 17, 18, 19, 2, 20, 21, 3, 4, 5, 6, 7, 8, 9, X0
Acute myeloid leukemiaYesN0.0006805226.0189

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, IMMUNODEFICIENCY 15, SHORT SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, LOEYS-DIETZ SYNDROME 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, INCONTINENTIA PIGMENTI, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, NAXOS DISEASE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, KERATOSIS, SEBORRHEIC, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, EPIDERMAL NEVUS, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, IMMUNODEFICIENCY 36, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, POLYCYTHEMIA VERA, SOMATIC, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 14, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, CLOVE SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, OROFACIAL CLEFT 11, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?FIBROMATOSIS, GINGIVAL, 1, MYHRE SYNDROME, PAPILLARY THYROID CARCINOMA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, NOONAN SYNDROME 7, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MAST CELL DISEASE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY, COMMON VARIABLE, 12, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

44

GATA1, NRAS, CTNNB1, PRKCD, MYC, SMAD4, CREBBP, AKT3, PIK3R2, IKBKG, TCF7L2, TNF, MTOR, NFKB1, ESR1, FLT3, HRAS, AKT2, AKT1, KRAS, PIK3CD, CCND1, RUNX1, JAK2, JUP, IKBKB, MAP2K2, EP300, PIK3CA, SOS1, CEBPA, BMP4, ZBTB16, RB1, SMAD3, TLR4, PIK3R5, STAT3, SOS2, BRAF, KIT, BCR, RAF1, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Chronic myeloid leukemiaYesN4.11917e-065.71112

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, IMMUNODEFICIENCY 15, SHORT SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, LEOPARD SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, LOEYS-DIETZ SYNDROME 2, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, LOEYS-DIETZ SYNDROME 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, DILATED, 1NN, INCONTINENTIA PIGMENTI, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, FEINGOLD SYNDROME, CATARACT 16, MULTIPLE TYPES, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, KERATOSIS, SEBORRHEIC, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BURKITT LYMPHOMA, EPIDERMAL NEVUS, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, IMMUNODEFICIENCY 33, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GLIOMA SUSCEPTIBILITY 1, ADRENAL CORTICAL CARCINOMA, CLOVE SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, CAMURATI-ENGELMANN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, PLASMA FIBRONECTIN DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PANCREATIC CANCER/MELANOMA SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, METACHONDROMATOSIS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, LYMPHEDEMA, HEREDITARY, ID, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, ?FIBROMATOSIS, GINGIVAL, 1, MYHRE SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, PAPILLARY THYROID CARCINOMA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, NOONAN SYNDROME 7, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CARDIOMYOPATHY, DILATED, 1II, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LOEYS-DIETZ SYNDROME 4, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

62

NRAS, ERBB2, TGFB2, APP, NGF, ERBB3, MYC, SMAD4, PTEN, CREBBP, PIK3R2, AKT1, IKBKG, VEGFC, PTPN11, PIK3CD, SOS2, MYCN, TGFB3, CCND1, TNF, TGFB1, MTOR, NFKB1, AKT3, CDH1, FN1, NFKBIA, MECOM, SOS1, RUNX1, CBL, AKT2, CDKN2A, NPM1, AURKA, CDKN1B, IRS1, CRYAB, IKBKB, MAP2K2, TGFBR1, EP300, PIK3CA, TP53, BCR, HRAS, EGFR, CDK4, SPRY2, KRAS, CDK6, RAF1, SMAD3, IGF1, PIK3R5, ESR1, TGFBR2, BRAF, SERPINE1, RB1, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Primary immunodeficiencyYesN9.58284e-096.2670

ADAMS-OLIVER SYNDROME 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, KAPPA LIGHT CHAIN DEFICIENCY, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, MALFORMATION OF THE HEART, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, AGAMMAGLOBULINEMIA 4, INCONTINENTIA PIGMENTI, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CD8 DEFICIENCY, FAMILIAL, SELECTIVE T-CELL DEFECT, LONG QT SYNDROME 15, COMMON VARIABLE IMMUNODEFICIENCY 1, COFFIN-SIRIS SYNDROME 4, PREMATURE OVARIAN FAILURE 7, ?IMMUNODEFICIENCY 25, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, EHLERS-DANLOS SYNDROME, TYPE 3, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, SPERMATOGENIC FAILURE 8, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, AGAMMAGLOBULINEMIA 2, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, LONG QT SYNDROME 14, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, AGAMMAGLOBULINEMIA 3, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, OMENN SYNDROME, 46XY SEX REVERSAL 3, RHEUMATOID ARTHRITIS, BURKITT LYMPHOMA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, TUBEROUS SCLEROSIS 2, AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MYOPATHY, TUBULAR AGGREGATE, 2, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, IMMUNODEFICIENCY, COMMON VARIABLE, 2, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, IMMUNODEFICIENCY 43, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AGAMMAGLOBULINEMIA 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

51

CALM1, LCK, TNFRSF13B, AICDA, SMARCA4, CD40LG, TNFRSF13C, ICOS, MYC, CD3D, CD40, RAG1, NR5A1, CD79A, CD8A, RFXANK, TAP1, DCLRE1C, IGLL1, CIITA, IGKC, RFX5, CD3E, CD19, ADA, NOTCH1, BLNK, RFXAP, IL7R, BTK, PRKDC, B2M, ORAI1, PTPRC, CCND1, CD247, NFKBIA, IGHM, STAT1, CBL, FOXO1, IFNG, RAG2, ZAP70, CREBBP, IKBKG, JAK3, UNG, TAP2, IL2RG, AIRE

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 20, 21, 22, 5, 6, 8, 9, X0
Propanoate metabolismYesN0.02289697.1827

MALONYL-COA DECARBOXYLASE DEFICIENCY, GLYCOGEN STORAGE DISEASE XI, ?ACAT2 DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, GABA-TRANSAMINASE DEFICIENCY, VON WILLEBRAND DISEASE, TYPE 1, VON WILLIBRAND DISEASE, TYPE 3, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, NAXOS DISEASE, ?FANCONI RENOTUBULAR SYNDROME 3, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACETYL-COA CARBOXYLASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), BURKITT LYMPHOMA, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, ALPHA-METHYLACETOACETIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, METHYLMALONYL-COA EPIMERASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

24

TUBA8, ECHS1, MYC, LDHA, VWF, MCEE, PCCB, ACAT1, ALDH6A1, HIBCH, PCCA, HADHA, SUCLG1, HADHB, ACACA, MUT, EHHADH, JUP, SUCLA2, MLYCD, ACAT2, ACADM, TUFM, ABAT

1, 10, 11, 12, 13, 14, 16, 17, 2, 22, 3, 6, 80
Metabolic pathwaysYesN4.37904e-191.361166

{HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, LONG QT SYNDROME 12, ?DEAFNESS, AUTOSOMAL RECESSIVE 103, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, 46,XX SEX REVERSAL, TYPE 2, OTOPALATODIGITAL SYNDROME, TYPE II, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, ACHONDROPLASIA, COPROPORPHYRIA, HARDEROPORPHYRIA, LEUKOTRIENE C4 SYNTHASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, CAPOS SYNDROME, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ?IMMUNODEFICIENCY 39, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, GLUTARICACIDURIA, TYPE I, PULMONARY VENOOCCLUSIVE DISEASE 1, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, MYOPIA 6, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, RETINITIS PIGMENTOSA, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, FANCONI RENOTUBULAR SYNDROME 2, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSKERATOSIS CONGENITA, X-LINKED, MIYOSHI MUSCULAR DYSTROPHY 1, POROKERATOSIS 3, MULTIPLE TYPES, MOLYBDENUM COFACTOR DEFICIENCY A, SICKLE CELL ANEMIA, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, FRONTOTEMPORAL DEMENTIA, CEREBROTENDINOUS XANTHOMATOSIS, HYPER-IGE RECURRENT INFECTION SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, MEDULLARY CYSTIC KIDNEY DISEASE 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ?PROGESTERONE RESISTANCE, ?UROCANASE DEFICIENCY, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, ?REYNOLDS SYNDROME, EXOSTOSES, MULTIPLE, TYPE 1, CEROID LIPOFUSCINOSIS NEURONAL 6, MANDIBULOACRAL DYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MUIR-TORRE SYNDROME, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, ?IMMUNODEFICIENCY 22, ATAXIA-TELANGIECTASIA-LIKE DISORDER, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, VAN BUCHEM DISEASE, TYPE 2, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 4, CORNELIA DE LANGE SYNDROME 1, LEUKODYSTROPHY, HYPOMYELINATING, 11, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MEND SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, PEPCK DEFICIENCY, MITOCHONDRIAL, IMMUNODEFICIENCY 24, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, RIPPLING MUSCLE DISEASE, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 15, PYRUVATE CARBOXYLASE DEFICIENCY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, [BILIRUBIN, SERUM LEVEL OF, QTL1], AORTIC ANEURYSM, FAMILIAL THORACIC 8, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, EHLERS-DANLOS SYNDROME, TYPE 3, ?OPTIC ATROPHY 9, CK SYNDROME, SYNDACTYLY, TYPE III, NAXOS DISEASE, IMMUNODEFICIENCY 44, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, BRUNNER SYNDROME, ANGELMAN SYNDROME, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, FAMILIAL COLORECTAL CANCER, DOWLING-DEGOS DISEASE 1, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, LEBER OPTIC ATROPHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PONTOCEREBELLAR HYPOPLASIA, TYPE 2E, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, CITRULLINEMIA, [FLECK RETINA, FAMILIAL BENIGN], VENTRICULAR SEPTAL DEFECT 1, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, GLYCEROL KINASE DEFICIENCY, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, GLUTAMINE DEFICIENCY, CONGENITAL, {ESSENTIAL TREMOR, SUSCEPTIBILITY TO}, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B3, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, PENDRED'S SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, PARAGANGLIOMAS 3, PARKINSON DISEASE 4, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, LUSCAN-LUMISH SYNDROME, KLEEFSTRA SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, IMMUNODEFICIENCY 38, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CATARACT 38, AUTOSOMAL RECESSIVE, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, ARTS SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, GHOSAL HEMATODIAPHYSEAL SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, MIRROR MOVEMENTS 2, GLYCOGEN STORAGE DISEASE IA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RETINITIS PIGMENTOSA 13, HYPOSPADIAS 1, X-LINKED, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, LIANG DISTAL MYOPATHY, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, ?N-ACETYLASPARTATE DEFICIENCY, UV-SENSITIVE SYNDROME 2, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, ATRIAL SEPTAL DEFECT 2, MUCOPOLYSACCHARIDOSIS VII, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, TRIGONOCEPHALY 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, CILIARY DYSKINESIA, PRIMARY, 6, BRACHYDACTYLY, TYPE A2, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, XANTHINURIA, TYPE I, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, ?EPILEPSY, FAMILIAL TEMPORAL LOBE, 8, NICOLAIDES-BARAITSER SYNDROME, MENTAL RETARDATION, X-LINKED 63, KERATITIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, DEAFNESS, AUTOSOMAL DOMINANT 17, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, CORNELIA DE LANGE SYNDROME 5, HEMOCHROMATOSIS TYPE 1, GLYCOGEN STORAGE DISEASE VI, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, OGDEN SYNDROME, [GILBERT SYNDROME], {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, RETINITIS PIGMENTOSA 45, HYPERPROLINEMIA, TYPE II, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, LEUKODYSTROPHY, HYPOMYELINATING, 10, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, GLAUCOMA 1A, PRIMARY OPEN ANGLE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYASTHENIC SYNDROME, CONGENITAL, 16, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, TYROSINEMIA, TYPE I, MALONYL-COA DECARBOXYLASE DEFICIENCY, HYPERLYSINEMIA, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), PSEUDOHYPOPARATHYROIDISM IA, FILS SYNDROME, PEROXISOME BIOGENESIS DISORDER 11B, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, HMG-COA SYNTHASE-2 DEFICIENCY, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, MYOPATHY, DISTAL, TATEYAMA TYPE, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, LEUKOCYTE ADHESION DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), PSEUDOHYPOALDOSTERONISM, TYPE IIC, CRANIOSYNOSTOSIS, TYPE 2, DEAFNESS, X-LINKED 5, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, COENZYME Q10 DEFICIENCY, PRIMARY, 3, SACCHAROPINURIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, {PANIC DISORDER, SUSCEPTIBILITY TO}, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?CARDIOMYOPATHY, DILATED, 2A, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, DEAFNESS, AUTOSOMAL RECESSIVE 39, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, NOONAN SYNDROME 7, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, PREMATURE OVARIAN FAILURE 7, CROUZON SYNDROME, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, ALPHA-METHYLACETOACETIC ACIDURIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, GAUCHER DISEASE, TYPE I, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, DEAFNESS, X-LINKED 1, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, HPRT-RELATED GOUT, ANEMIA, SIDEROBLASTIC, 1, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ?DIARRHEA 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, HETEROTOPIA, PERIVENTRICULAR, MAY-HEGGLIN ANOMALY, TYROSINEMIA, TYPE II, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, FANCONI ANEMIA, COMPLEMENTATION GROUP C, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, ?LICHTENSTEIN-KNORR SYNDROME, NEPHRONOPHTHISIS 1, JUVENILE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, AORTIC ANEURYSM, FAMILIAL THORACIC 4, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, COCKAYNE SYNDROME, TYPE A, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, MISMATCH REPAIR CANCER SYNDROME, BARTH SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, IMMUNODEFICIENCY 8, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PARAGANGLIOMAS 5, MYOTONIC DYSTROPHY 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, [AMP DEAMINASE DEFICIENCY, ERYTHROCYTIC], ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WEAVER SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, LACTASE DEFICIENCY, CONGENITAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AMINOACYLASE 1 DEFICIENCY, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V, CEREBROOCULOFACIOSKELETAL SYNDROME 4, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, LEOPARD SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPOPHOSPHATASIA, INFANTILE, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, CARCINOID TUMORS, INTESTINAL, ALBINISM, OCULOCUTANEOUS, TYPE III, CORNEAL DYSTROPHY, CONGENITAL STROMAL, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, TYROSINEMIA, TYPE III, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, CLEFT PALATE, ISOLATED, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, ATAXIA-TELANGIECTASIA, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, CARDIOMYOPATHY, DILATED, 1NN, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, ?PERRAULT SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE IV, DIAMOND-BLACKFAN ANEMIA 9, GM1-GANGLIOSIDOSIS, TYPE I, MYOCLONUS, FAMILIAL CORTICAL, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, THYROID DYSHORMONOGENESIS 2A, LOEYS-DIETZ SYNDROME 3, COENZYME Q10 DEFICIENCY, PRIMARY, 7, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CUTIS LAXA, AUTOSOMAL DOMINANT 3, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, PELGER-HUET ANOMALY, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, {AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX, SUSCEPTIBILITY TO}, PRIMARY PULMONARY HYPERTENSION, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, WRINKLY SKIN SYNDROME, IMMUNODEFICIENCY 33, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COFFIN-SIRIS SYNDROME 3, HEMOLYTIC ANEMIA DUE TO ADENYLATE KINASE DEFICIENCY, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, STRIATONIGRAL DEGENERATION, INFANTILE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, GAUCHER DISEASE, TYPE IIIC, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, CORTISONE REDUCTASE DEFICIENCY 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, MALFORMATION OF THE HEART, MALOUF SYNDROME, HARP SYNDROME, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, CARDIOMYOPATHY, HYPERTROPHIC, 3, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SEGAWA SYNDROME, RECESSIVE, PAROXYSMAL NONKINESIGENIC DYSKINESIA, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, CORTISONE REDUCTASE DEFICIENCY 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, IMMUNODEFICIENCY 36, LI-FRAUMENI SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETICULAR DYSGENESIS, DIHYDROPYRIMIDINURIA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, MEDNIK SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, HYPEROXALURIA, PRIMARY, TYPE II, UROFACIAL SYNDROME 1, EVEN-PLUS SYNDROME, GALACTOSEMIA, RETINITIS PIGMENTOSA 37, LEIOMYOMATOSIS AND RENAL CELL CANCER, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PARKINSON DISEASE 20, EARLY-ONSET, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, MODY, TYPE II, CRIGLER-NAJJAR SYNDROME, TYPE I, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, PICK DISEASE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, FRUCTOSE INTOLERANCE, RUBINSTEIN-TAYBI SYNDROME 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, NEPHROTIC SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, PARAGANGLIOMAS 4, LACTASE PERSISTENCE/NONPERSISTENCE, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ADRENAL CORTICAL CARCINOMA, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, CHIME SYNDROME, ?MUCOPOLYSACCHARIDOSIS TYPE IX, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, 46XY SEX REVERSAL 3, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, DESBUQUOIS DYSPLASIA 2, MICROPHTHALMIA, ISOLATED 8, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, GLYCOGEN STORAGE DISEASE VII, PULMONARY HYPERTENSION, PRIMARY, 3, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, HYPOCHONDROPLASIA, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), SPINOCEREBELLAR ATAXIA 17, CORNELIA DE LANGE SYNDROME 2, BIOTINIDASE DEFICIENCY, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, KRABBE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, EXOSTOSES, MULTIPLE, TYPE 2, NESTOR-GUILLERMO PROGERIA SYNDROME, ?WAISMAN SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, EPILEPSY, PYRIDOXINE-DEPENDENT, ?N SYNDROME, [HISTIDINEMIA], LEPRECHAUNISM, BLOOM SYNDROME, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, HEMOLYTIC ANEMIA DUE TO G6PD DEFICIENCY, HYPERPROINSULINEMIA, MUCOPOLYSACCHARIDOSIS, MPS-III-A, POROKERATOSIS 1, MULTIPLE TYPES, ERYTHROCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MYOGLOBINURIA, RECURRENT, LEUKODYSTROPHY, HYPOMYELINATING, 9, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, ANEMIA, SIDEROBLASTIC, 4, GABA-TRANSAMINASE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, HYPOPLASTIC LEFT HEART SYNDROME 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, POROKERATOSIS 7, MULTIPLE TYPES, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, HYPOBETALIPOPROTEINEMIA, COLE DISEASE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ?HYDROXYKYNURENINURIA, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, HEART-HAND SYNDROME, SLOVENIAN TYPE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, PONTOCEREBELLAR HYPOPLASIA, TYPE 9, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ?MICROPHTHALMIA, SYNDROMIC 1, CHOROID PLEXUS PAPILLOMA, NEUROCUTANEOUS MELANOSIS, SOMATIC, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CATARACT 13 WITH ADULT I PHENOTYPE, ATRIAL FIBRILLATION, FAMILIAL, 6, CEROID LIPOFUSCINOSIS, NEURONAL, 11, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ISOVALERIC ACIDEMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, XERODERMA PIGMENTOSUM, GROUP D, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SJOGREN-LARSSON SYNDROME, LEOPARD SYNDROME 1, ACROKERATOSIS VERRUCIFORMIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, GLYCOGEN STORAGE DISEASE IV, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, BETA-UREIDOPROPIONASE DEFICIENCY, CAMURATI-ENGELMANN DISEASE, ?ACAT2 DEFICIENCY, RETINITIS PIGMENTOSA 10, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, CALCIUM OXALATE UROLITHIASIS, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, FAVISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, AMISH INFANTILE EPILEPSY SYNDROME, GALACTOSE EPIMERASE DEFICIENCY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, COENZYME Q10 DEFICIENCY, PRIMARY, 6, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, CEROID LIPOFUSCINOSIS, NEURONAL, 1, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, EPIDERMAL NEVUS, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FECHTNER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, DEJERINE-SOTTAS DISEASE, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, CONGENITAL DIAPHRAGMATIC HERNIA, LEBER CONGENITAL AMAUROSIS 9, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, ATRANSFERRINEMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), RETINITIS PIGMENTOSA 73, CATSHL SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, METHYLMALONYL-COA EPIMERASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, COLE-CARPENTER SYNDROME 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, GAUCHER DISEASE, PERINATAL LETHAL, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, OROTIC ACIDURIA, HARTSFIELD SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEVALONIC ACIDURIA, CARDIOMYOPATHY, HYPERTROPHIC 6, HMG-COA LYASE DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), MENTAL RETARDATION, X-LINKED SYNDROMIC 5, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, OSTEOGENESIS IMPERFECTA, TYPE III, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HOLOPROSENCEPHALY-3, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, POLYCYTHEMIA VERA, SOMATIC, USHER SYNDROME TYPE 3B, GREENBERG SKELETAL DYSPLASIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, NEU-LAXOVA SYNDROME 1, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, ?THROMBOXANE SYNTHASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, FRONTOMETAPHYSEAL DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, SPONDYLOOCULAR SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, PEROXISOME BIOGENESIS DISORDER 2B, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, [FRUCTOSURIA], CALCIFICATION OF JOINTS AND ARTERIES, COLOBOMA, OCULAR, AURICULOCONDYLAR SYNDROME 2, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SPINOCEREBELLAR ATAXIA 21, [BOMBAY PHENOTYPE], LONG QT SYNDROME 15, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, OSSEOUS HETEROPLASIA, PROGRESSIVE, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, DEAFNESS, AUTOSOMAL RECESSIVE 89, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CATARACT 44, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, OSTEOGENESIS IMPERFECTA, TYPE I, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), GRISCELLI SYNDROME, TYPE 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, MILLER SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, VITAMIN D-DEPENDENT RICKETS, TYPE I, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, OCULOECTODERMAL SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, OSTEOGENESIS IMPERFECTA, TYPE II, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, COFFIN-SIRIS SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, VISCERAL MYOPATHY, D-GLYCERIC ACIDURIA, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, GAUCHER DISEASE, TYPE III, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, MUCOPOLYSACCHARIDOSIS TYPE IIID, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, [SARCOSINEMIA], {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, NIEMANN-PICK DISEASE, TYPE B, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, JOUBERT SYNDROME 4, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, POLYGLUCOSAN BODY DISEASE, ADULT FORM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, TREACHER COLLINS SYNDROME 2, GLOMUVENOUS MALFORMATIONS, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, COENZYME Q10 DEFICIENCY, PRIMARY, 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, GALACTOKINASE DEFICIENCY WITH CATARACTS, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CANAVAN DISEASE, CYSTATHIONINURIA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, KOSAKI OVERGROWTH SYNDROME, [BONE MINERAL DENSITY VARIABILITY 1], SENGERS SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, ?CATARACT 30, PULVERULENT, PHYTANIC ACID STORAGE DISEASE, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, MCARDLE DISEASE, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, SMITH-KINGSMORE SYNDROME, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CATEL-MANZKE SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS IS, HYPEROXALURIA, PRIMARY, TYPE 1, MYHRE SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, ?MICROPHTHALMIA, SYNDROMIC 13, HYPERPROLINEMIA, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, RETINITIS PIGMENTOSA 18, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, FEINGOLD SYNDROME, NEPHROTIC SYNDROME, TYPE 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), SPERMATOGENIC FAILURE 8, APERT SYNDROME, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, PANCREATIC LIPASE DEFICIENCY, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE, GLUTATHIONE SYNTHETASE DEFICIENCY, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AROMATASE EXCESS SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, WOLFF-PARKINSON-WHITE SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, MENTAL RETARDATION, X-LINKED 72, THANATOPHORIC DYSPLASIA, TYPE II, HYPERPARATHYROIDISM 1, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, MULTIPLE SULFATASE DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, TREACHER COLLINS SYNDROME 3, HEPATIC LIPASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, ADENYLOSUCCINASE DEFICIENCY, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, INFANTILE NEUROAXONAL DYSTROPHY 1, TOURETTE SYNDROME, {GILLES DE LA TOURETTE SYNDROME, SUSCEPTIBILITY TO}, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CONE-ROD DYSTROPHY 2, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, GLUCOCORTICOID RESISTANCE, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ZIMMERMANN-LABAND SYNDROME 2, BARAITSER-WINTER SYNDROME 2, ALBINISM, OCULOCUTANEOUS, TYPE IA, ATRIAL STANDSTILL 2, TRANSALDOLASE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, NONAKA MYOPATHY, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, GILLESPIE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HUTCHINSON-GILFORD PROGERIA, LESCH-NYHAN SYNDROME, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, SUPRAVALVAR AORTIC STENOSIS, FARBER LIPOGRANULOMATOSIS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, BURN-MCKEOWN SYNDROME, {GLIOMA SUSCEPTIBILITY 9}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, NEU-LAXOVA SYNDROME 2, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, [PENTOSURIA], MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, {MACULAR DEGENERATION, AGE-RELATED, 2}, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, SMITH-LEMLI-OPITZ SYNDROME, ONCOCYTOMA, GM1-GANGLIOSIDOSIS, TYPE III, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, JALILI SYNDROME, LEBER OPTIC ATROPHY AND DYSTONIA, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, MODY, TYPE I, GLIOMA SUSCEPTIBILITY 1, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, TATTON-BROWN-RAHMAN SYNDROME, DESMOSTEROLOSIS, CARDIOMYOPATHY, HYPERTROPHIC, 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, ?SPASTIC PARAPLEGIA 63, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, ENHANCED S-CONE SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PYRUVATE KINASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 8, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, NEUTROPENIA, CYCLIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, LOWE SYNDROME, ADAMS-OLIVER SYNDROME 3, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, ALKAPTONURIA, KERATOSIS, SEBORRHEIC, SOMATIC, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, LYNCH SYNDROME I, JACKSON-WEISS SYNDROME, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, DYSTONIA-12, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), HYPER-IGD SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), TUBEROUS SCLEROSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, WAARDENBURG SYNDROME, TYPE 3, PARIETAL FORAMINA 1, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, ARGININEMIA, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, BJORNSTAD SYNDROME, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, FUMARASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, THROMBOCYTHEMIA 3, MENTAL RETARDATION, X-LINKED 41, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, HAILEY-HAILEY DISEASE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, CRIGLER-NAJJAR SYNDROME, TYPE II, GAUCHER DISEASE, TYPE II, GLYCINE ENCEPHALOPATHY, GLYCOGEN STORAGE DISEASE II, SENIOR-LOKEN SYNDROME-1, LEBER CONGENITAL AMAUROSIS 13, CARDIAC VALVULAR DYSPLASIA, X-LINKED, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, QUESTION MARK EARS, ISOLATED, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, PLATELET GLYCOPROTEIN IV DEFICIENCY, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, OPTIC NERVE HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, CHONDROSARCOMA, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, XERODERMA PIGMENTOSUM, TYPE 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, ALCOHOL DEPENDENCE, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LATHOSTEROLOSIS, TANGIER DISEASE, PERRAULT SYNDROME 5, CHILD SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, EXUDATIVE VITREORETINOPATHY 4, PULMONARY HYPERTENSION, PRIMARY, 2, DARIER DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, {PARKINSON DISEASE 18}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ENCEPHALOPATHY, NEONATAL SEVERE, INFANTILE MYOFIBROMATOSIS 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 17, ADERMATOGLYPHIA, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, FOCAL FACIAL DERMAL DYSPLASIA 4, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, GLAUCOMA 1, OPEN ANGLE, E, WAGNER SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, MUCOPOLYSACCHARIDOSIS II, GLYCOGEN STORAGE DISEASE X, OCULODENTODIGITAL DYSPLASIA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, WILSON-TURNER SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, HYPOPHOSPHATASIA, CHILDHOOD, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, GLUCOCORTICOID DEFICIENCY 4, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, THROMBOCYTOPENIA 4, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, [ACETYLATION, SLOW], ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, CARDIOMYOPATHY, HYPERTROPHIC, 7, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, MENTAL RETARDATION, X-LINKED 90, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, MUENKE SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, BREAST-OVARIAN CANCER, FAMILIAL 1, HAWKINSINURIA, MUCOPOLYSACCHARIDOSIS IH/S, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MOLYBDENUM COFACTOR DEFICIENCY B, ASPARAGINE SYNTHETASE DEFICIENCY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, COFFIN-LOWRY SYNDROME, CODAS SYNDROME, ?GLYCOGEN STORAGE DISEASE XIII, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, MUCOPOLYSACCHARIDOSIS IVA, DENT DISEASE 2, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY, ?HEMOCHROMATOSIS, TYPE 5

859

CALM1, LSS, UROD, RPL5, LRPAP1, HBB, GPI, GLMN, LMNA, GPT2, ACADS, DNM2, LBR, GNAS, ACAT2, ATP6V1B1, GUSB, ENPP1, POLD1, GSS, B3GAT3, HDC, ALG3, PCYT1A, NSDHL, LCT, GLYCTK, LHCGR, RANBP2, PEX13, FH, H6PD, AGK, G6PC, AR, ARSE, GFI1B, HARS, SBF1, HPSE2, CYP2C19, PIGM, GNE, HGD, LIPT1, EIF4G1, WWOX, PMS2, HYAL1, UPB1, PHKB, FGFR3, KL, ISG15, ENO3, NDUFA1, IDS, ALDH7A1, PAXIP1, ASNS, MTOR, ASAH1, MT-ND6, HMGA1, MGAT2, ALG11, PGM1, ALAD, ASS1, MRE11A, AIFM1, STT3A, CCND1, TALDO1, JAK2, GNS, EFTUD2, SUCLA2, AP1S2, MAT1A, SGSH, GALNT3, HSPD1, TECR, NOL3, PRPF3, EZH2, ATP6V1B2, GAD1, TNNT2, ALAS2, CYP21A2, HTR2A, NAGS, NAT8L, KMT2A, CYB5R3, NDUFA10, GAMT, ALDH3A2, PMM2, MT-CO1, POLR2F, SLC35A2, MAN1B1, BANF1, ALDOA, AGL, CTNNB1, PMVK, TAT, SUFU, NDUFA12, SETD2, SMAD4, PIGY, NCF4, RPIA, RAD51, AK2, SLC34A1, TNFSF11, LEP, PYCR1, ALDH2, NARS2, VMA21, GLDC, PPP2R1A, DBH, NDUFA2, SSR4, AKT1, SLC9A1, INPPL1, PAPSS2, UBA1, DLAT, PRKCD, TANGO2, NPHS1, ABCB7, COX15, AGPS, HGF, KARS, CNGB1, CDH1, B4GAT1, IL1B, DHODH, SI, HSPA9, ALOX12B, PPP2R1B, ECHS1, POMC, CYP2U1, MTM1, ADK, POLA1, HMBS, MT-ND4, SPTLC2, NDST1, MLF1, HINT1, HNRNPK, EIF2B3, GRHPR, UBE2A, GALK1, NPHP1, PIGL, PLA2G5, CXCR4, GMPPA, HPD, RARS, PLCB1, MT-CO2, PLCE1, PTPN11, HMGB3, PCCA, ALG1, BRAF, DCXR, TUBGCP4, PAK3, GATA4, GPX4, RAB7A, CALR, AMT, MEF2A, AKR1D1, GHRL, EGFR, DGAT1, TF, POLR3B, RDH11, FBP1, ALB, SDHB, GCH1, DMPK, SURF1, MMAB, MLYCD, APOB, COQ9, QARS, MYC, NAA10, PGAM2, AGRN, DDC, PGK1, MOCS2, PKLR, DGUOK, GBA2, ALPL, ST3GAL3, GFAP, COX6A1, CCT5, WNK1, HARS2, ACAN, CTPS1, BMP2, MCCC2, REN, IDUA, BAAT, NDUFS4, HADH, ASPM, NDUFB11, DYSF, PGAP1, DES, MT-CO3, BCKDHB, TPK1, AKR1C4, GAL, CYP11B1, CDC73, POR, DLD, ERBB2, INPP5E, CAPN3, HSD11B1, MVD, NR2E3, UQCRB, GNAI2, MAOA, RYR2, ATN1, IVD, SOX9, RRM2B, TNNT3, SCP2, MMP2, ALDOB, SLC26A4, NPPA, DRD3, PSPH, XPA, MPI, CLIC5, HBA1, IL12B, NOTCH1, IDH2, MYO5A, GCNT2, CYP3A5, PIGT, CBS, CORO1A, AMACR, EGR2, PRODH, CFL2, VCAN, SP110, MSX2, EHHADH, ESR1, GK, EARS2, PTH, PAX7, FUT2, JUP, LRP5, NRAS, LIPC, ERLIN2, TCIRG1, KDR, PRKG1, TAZ, FANCA, XDH, FGF23, STAT3, HMGCS2, ADD1, SLC26A3, BCO1, NDUFS3, DMD, PIGR, CD81, NCF1, NT5C3A, DPH1, TSG101, NDUFB3, MT-ATP6, IGF1, KRT5, SMAD9, CD36, CYP27B1, SC5D, TXNL4A, GMPPB, EEF2, AASS, B4GALNT1, TGDS, HMGCL, SMC1A, DMGDH, GBE1, SLC5A7, VDR, FGFR1, NAGLU, ATXN1, ETFA, LIPA, ITPA, CYCS, CLIC2, ACTN2, SNTA1, PDSS2, AMPD3, SNCA, SLCO1B1, DHCR24, HK1, NT5C2, COQ4, GCLC, NME8, GALE, MT-ND3, SCYL1, COX7B, NDUFV1, OTC, RAF1, BARD1, IRF5, DLG3, KRT8, PTS, PDHX, PAX3, ACTG1, ATP2A2, JAGN1, CYP19A1, PRKCSH, XYLT1, P4HB, TYMP, CYP1B1, DDX58, MTR, SPTLC1, MUT, PLG, CERS3, LDLR, NDUFB9, DNMT1, FCGR2B, ACTN4, AMPD1, PIK3R1, PHB, SHMT1, DCN, B4GALT1, CYP17A1, PCNA, NEFL, POLR1C, TUFM, HSD3B2, NAT2, ASPA, ADA, SMAD3, ALDH18A1, HSPG2, TNF, EXT2, NDUFS2, ODC1, SERPINE1, SKIV2L, ATIC, PEX5, MPDZ, ARL6IP1, F2, TNFRSF1A, TNNI3, PAFAH1B1, UGT1A1, STT3B, ADSL, SDHC, TPM1, CYP27A1, IKBKG, HEXB, PLCD1, MUC1, CYP11B2, CAV1, CTH, AGT, VPS53, MOGS, CDK5, TRAPPC2, KDM1A, BTD, PCK2, SMN2, MCM6, PIGC, SDHA, DPYS, SIM1, COL1A1, FANCM, PIK3CA, GALT, UGT1A4, ST3GAL5, SIL1, HADHA, COX8A, POT1, CYP26C1, PRKAG2, GFPT1, GATA3, RBPJ, CTSD, NUBPL, SMARCA4, UROC1, CASP8, NDUFS7, GPC3, IGF2, GRN, NOS3, NR1I3, MAPT, CAD, AK1, ALDH6A1, THPO, MET, HEXA, ACTN1, ABAT, NNT, MSMO1, TK2, ABCA1, ARG1, HGSNAT, CEL, CNNM4, HSD17B3, SDC3, IMPAD1, MCPH1, CD44, DSE, FOXO1, MYH6, DPYD, UQCRQ, NDUFA9, IFNG, ALG6, POLR1D, COX14, RPS6KA3, DKC1, ERCC8, VCP, HAO1, INS, PAM16, TYRP1, PCCB, TPO, COMT, ACO2, GDI1, PFKM, TYR, DAO, ACAT1, SMPD1, RPS14, HSD17B10, PTDSS1, EXT1, G6PC3, PITX3, B4GALT7, TGFB1, VHL, HNF4A, RDX, FKBP14, PPOX, ITGB2, NR3C1, FN1, POLR3A, SMS, MT-CYB, ATP5A1, ALDH1A3, PHGDH, FECH, RPS10, DBT, ACY1, MCCC1, TRPM7, ACADSB, NONO, ADH1B, SLC9A3R1, POLG2, ALDH5A1, ADAMTS10, STAT2, COX10, RDH12, GPD1, FAH, LIAS, ATXN2, FTH1, SUCLG1, MCEE, SMARCB1, MTHFR, HDAC8, MYH7, NOS2, DHCR7, TLR4, IL4R, EIF2B1, PNKD, SYNJ1, PANK2, TBP, MYH9, TAF6, PDGFRA, SARDH, POLE, GATM, SLC33A1, PNPLA2, DNMT3A, PPT1, GBA, ABCA4, NUP62, PIP5K1C, TRH, APP, MT-ND4L, MOCS1, HRAS, KHK, POLG, MTAP, NDUFS6, CD27, AGPAT2, SPTAN1, ALDH4A1, PEX7, TINF2, TMEM199, DHFR, ALG13, CASK, PNLIP, SMARCAD1, NDUFS8, HLCS, PIGV, NFKB1, POLR1A, PRPF8, CAV3, APRT, PRPH, ACOX1, NDUFA11, NT5E, ERCC1, COQ7, GATA5, EBP, ITGB3, MLH1, ALG10, IRF7, PPARG, G6PD, CERS1, OAT, OTX2, HIBCH, GALNS, EIF2B2, HPRT1, BTK, OCRL, PRPS1, COX6B1, PNPO, CLASP1, VIM, SCO2, NEU1, ALG2, DLC1, DARS, HAL, ERCC2, PDGFRB, XYLT2, CD40, AUH, ARHGDIA, FUT1, BLM, MT-ND2, DNMT3B, IMPDH1, IRS1, CYP2R1, SELP, SMARCA2, HAX1, SDHD, APOA2, TAF1, PIGO, KRAS, TP53, SLC25A32, PAX6, PLA2G7, GLUD2, IDH1, ZHX2, CPOX, LMNB1, IL6, LRP1, ACACA, LPIN1, RYR1, LTC4S, UMPS, COQ6, CRX, PGR, AGXT, HELLS, BCKDHA, LONP1, MRPL44, UCHL1, NR0B1, ATP2C1, HTT, LDHA, FANCC, TUBG1, EP300, NR5A1, EPHX2, AP1S1, ATP6V0A2, GCDH, CLPB, EIF2B5, PCBD1, ACADVL, CYP24A1, CTDP1, GLUD1, BPGM, ALOX5, PCK1, BMPR2, TUBA8, LARS, EDN1, DPAGT1, RAB39B, GJA1, DPM2, FTCD, PIGW, AHSG, BCS1L, SPR, MYCN, VWF, IRS2, MECP2, MVK, TGFB2, CYP2A6, GCK, PYGM, DPM1, TSC2, PYCR2, PMPCA, UROS, ELANE, HADHB, NDUFS1, MRPL3, BRCA1, IGF1R, UQCRC2, SEC63, FASLG, ATP1A3, KYNU, AXIN1, PLAU, CYP2C9, COASY, CHSY1, CCL2, PSAT1, ARSB, GCSH, OGDH, B3GALT6, ACADM, TH, ADH1C, DDOST, TPI1, GAA, LYRM4, PAH, NMNAT1, SUMF1, CYC1, LCK, NME1, FLNA, MSH2, NR0B2, NGF, COQ2, ATR, HSD17B4, ASL, HPCA, PDHA1, PYGL, ATM, GLB1, QDPR, ETFB, STX1B, AHCY, PTGIS, FXN, INSR, GALC, PLA2G2A, TUSC3, SELE, NDUFV2, CPS1, FGFR2, PLCG2, C10orf2, CDKN1B, GNPAT, GLUL, COX4I2, MT-ND5, PLA2G6, PEX19, GALNT14, PNP, DGKE, TBXAS1, DOLK, AMPD2, ACSL4, PIGA, GNRH1, RUNX2, COL4A3BP, MYH11, MT-ND1, MTHFD1, NHP2, CHKB, PLCB4, HSD3B7, PC, PIGN, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
ECM-receptor interactionYesN6.30492e-185.42189

ATROPHODERMA VERMICULATUM, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, PSEUDOACHONDROPLASIA, CORTICAL MALFORMATIONS, OCCIPITAL, CZECH DYSPLASIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, LONG QT SYNDROME 15, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, PORENCEPHALY 2, EPIDERMOLYSIS BULLOSA PRURIGINOSA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CAFFEY DISEASE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, {NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO}, GILLESPIE SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, EHLERS-DANLOS SYNDROME, TYPE IV, LISSENCEPHALY 5, WAARDENBURG SYNDROME, TYPE 2D, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, PORENCEPHALY 1, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ?RETINAL ARTERIES, TORTUOSITY OF, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, CORNEAL DYSTROPHY, CONGENITAL STROMAL, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?STEEL SYNDROME, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, VON WILLEBRAND DISEASE, PLATELET-TYPE, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, TOENAIL DYSTROPHY, ISOLATED, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, GLIOMA SUSCEPTIBILITY 1, OSTEOGENESIS IMPERFECTA, TYPE IV, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, VON WILLEBRAND DISEASE, TYPE 1, HOLOPROSENCEPHALY-3, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, FOVEAL HYPOPLASIA 1, EBD, BART TYPE, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, AMELOGENESIS IMPERFECTA, TYPE IA, BENIGN FAMILIAL HEMATURIA, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EPIDERMOLYSIS BULLOSA, PRETIBIAL, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, OTOPALATODIGITAL SYNDROME, TYPE II, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, BURKITT LYMPHOMA, BETHLEM MYOPATHY 1, STICKLER SYNDROME, TYPE I, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BLEEDING DISORDER, PLATELET-TYPE, 17, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOGENESIS IMPERFECTA, TYPE I, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 56, ?DEAFNESS, X-LINKED 6, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, KNOBLOCH SYNDROME 1, AMELOGENESIS IMPERFECTA, TYPE IH, ALZHEIMER DISEASE-2, OTOPALATODIGITAL SYNDROME, TYPE I, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, CARDIAC VALVULAR DYSPLASIA, X-LINKED, HYPOSPADIAS 1, X-LINKED, ?MYOSCLEROSIS, CONGENITAL, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, OPTIC NERVE HYPOPLASIA, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, 1JJ, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DEAFNESS, AUTOSOMAL RECESSIVE 53, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, CALCIUM OXALATE UROLITHIASIS, KERATITIS, 46,XX SEX REVERSAL, TYPE 2, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PLASMA FIBRONECTIN DEFICIENCY, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, COLOBOMA, OCULAR, FIBROCHONDROGENESIS 1, ALPORT SYNDROME, LOEYS-DIETZ SYNDROME 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FIBROCHONDROGENESIS 2, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 11, EPITHELIAL RECURRENT EROSION DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ERYTHROCYTOSIS, FAMILIAL, 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, LEUKOCYTE ADHESION DEFICIENCY, PIEBALDISM, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, TRANSIENT BULLOUS OF THE NEWBORN, SMED STRUDWICK TYPE, ANDROGEN INSENSITIVITY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, HETEROTOPIA, PERIVENTRICULAR, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, RENAL ADYSPLASIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, BRACHYDACTYLY, TYPE A2, LARYNGOONYCHOCUTANEOUS SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, STICKLER SYNDROME, TYPE III, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, DEAFNESS, AUTOSOMAL DOMINANT 13, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, LEGG-CALVE-PERTHES DISEASE, VESICOURETERAL REFLUX 8, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, IMMUNODEFICIENCY 36, SEA-BLUE HISTIOCYTE DISEASE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, PIERSON SYNDROME, PROTEUS SYNDROME, SOMATIC, MARSHALL SYNDROME

92

CALM1, APOE, LAMB1, COL1A1, GP1BA, COL3A1, ITGB6, F2, GRIN2B, COL11A2, PPARG, COL5A1, ITGA2B, DDR2, SOX10, COL6A3, ITGA3, COL4A5, LAMB2, MYC, SNAI2, GFI1B, TNXB, COL2A1, SOX9, ACAN, MMP2, PAX6, AR, GP1BB, DAG1, TNF, LAMA1, COL1A2, ITGA2, COMP, AGRN, COL4A6, RELN, COL4A2, CD44, RUNX2, GP9, GP6, TNC, COL7A1, TGFBR1, ITGB3, ITGA8, COL4A1, VWF, COL17A1, LAMA3, LAMB3, VHL, COL4A4, BMP2, ITGB2, LAMA4, FN1, COL27A1, ITGA7, LAMC3, AKT1, CSNK1D, ITGA6, HMMR, COL6A2, FLNA, AURKA, LAMC2, LAMA2, TGFB1, COL5A2, THBS4, COL11A1, ITGB4, COL6A1, PDGFB, SERPINH1, COL4A3, DCN, COL18A1, CD36, SNAP25, ACTN2, LRP1, CALR, SELP, HSPG2, PIK3R1, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 5, 6, 7, 8, 9, X0
PeroxisomeYesN0.01016175.6685

PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEVALONIC ACIDURIA, PEROXISOME BIOGENESIS DISORDER 5B, HMG-COA LYASE DEFICIENCY, GLIOMA SUSCEPTIBILITY 1, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11B, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), CALCIUM OXALATE UROLITHIASIS, PERRAULT SYNDROME 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, PEROXISOME BIOGENESIS DISORDER 3B, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, PHYTANIC ACID STORAGE DISEASE, POROKERATOSIS 1, MULTIPLE TYPES, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), TRIFUNCTIONAL PROTEIN DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, HYPER-IGD SYNDROME, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, LONG QT SYNDROME 15, PEROXISOME BIOGENESIS DISORDER 7B, LIEBENBERG SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 6B, CHILD SYNDROME, CK SYNDROME, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, ?FANCONI RENOTUBULAR SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER), ALAGILLE SYNDROME, LOEYS-DIETZ SYNDROME 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, PEROXISOME BIOGENESIS DISORDER 2B, D-BIFUNCTIONAL PROTEIN DEFICIENCY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, MALONYL-COA DECARBOXYLASE DEFICIENCY, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), LONG QT SYNDROME 14, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, XANTHINURIA, TYPE I, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ESSENTIAL HYPERTENSION, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), BURKITT LYMPHOMA, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, MENTAL RETARDATION, X-LINKED 63, PEROXISOME BIOGENESIS DISORDER 4B, PEROXISOME BIOGENESIS DISORDER 8B, PEROXISOME BIOGENESIS DISORDER 14B, ?ATRIAL FIBRILLATION 15, DYSAUTONOMIA, FAMILIAL, POROKERATOSIS 3, MULTIPLE TYPES, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), HEIMLER SYNDROME 1, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, {GLIOMA SUSCEPTIBILITY 9}, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HEIMLER SYNDROME 2, RENAL TUBULAR DYSGENESIS, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}

57

TUBA8, CALM1, SOD1, PEX14, ARL6IP1, DAO, AMACR, CTNNB1, PMVK, PEX1, AGPS, HAO1, POT1, ACOX1, PEX2, HSD17B4, PEX3, PEX19, IDH1, PEX12, IDH2, PEX11B, AGT, HADHB, PITX1, NUP155, PEX6, HMGCL, NSDHL, PEX26, EHHADH, MVK, BAAT, PHYH, GNPAT, SCP2, PEX10, ACSL4, NOS2, MPV17, EPHX2, MLYCD, AGXT, ABCD1, PEX16, PEX13, ABCD4, JAG1, MYC, XDH, PEX5, SMAD3, ABCD3, PEX7, IKBKAP, DHFR, FAR1

1, 10, 11, 12, 14, 15, 16, 17, 2, 20, 21, 22, 3, 5, 6, 7, 8, 9, X0
MelanomaYesN2.91919e-085.67159

PAPILLORENAL SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ACHONDROPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA WITH COLOBOMA 5, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, LI-FRAUMENI SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, OROFACIAL CLEFT 11, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, CATSHL SYNDROME, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, SUPRAVALVAR AORTIC STENOSIS, APLASIA OF LACRIMAL AND SALIVARY GLANDS, TRIGONOCEPHALY 1, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, TRICHOMEGALY, SPINOCEREBELLAR ATAXIA 27, SADDAN, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, DILATED, 1NN, ?MULTIPLE SYNOSTOSES SYNDROME 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BENT BONE DYSPLASIA SYNDROME, LEPRECHAUNISM, HOLOPROSENCEPHALY-3, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, HYPOCHONDROPLASIA, ESSENTIAL HYPERTENSION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SHORT SYNDROME, KERATOSIS, SEBORRHEIC, SOMATIC, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BURKITT LYMPHOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, LADD SYNDROME, METACARPAL 4-5 FUSION, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SCHOPF-SCHULZ-PASSARGE SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, ?RENAL HYPODYSPLASIA/APLASIA 2, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OSTEOGLOPHONIC DYSPLASIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, CLEFT PALATE, ISOLATED, OCULOECTODERMAL SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GLIOMA SUSCEPTIBILITY 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ODONTOONYCHODERMAL DYSPLASIA, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PANCREATIC CANCER/MELANOMA SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, 46,XX SEX REVERSAL, TYPE 2, AMYOTROPHIC LATERAL SCLEROSIS 19, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, PAPILLARY THYROID CARCINOMA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, MICROPHTHALMIA, SYNDROMIC 6, CROUZON SYNDROME, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, TIETZ ALBINISM-DEAFNESS SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, TOOTH AGENESIS, SELECTIVE, 4, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, IMMUNODEFICIENCY 36, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

69

CALM1, SOX9, IRS1, SHH, FGF14, PPARG, KRAS, NRAS, MAP2K2, FGF9, PTEN, NOTCH1, AKT3, PIK3R2, TGFB1, CDK6, NOS3, PIK3CD, FGF10, PDGFRB, LEP, TNF, MTOR, CDKN2A, FGF5, FGF23, MET, INSR, ERBB2, PAX2, AKT2, CDH1, CCND2, TP53, CCND1, ESR1, FGFR2, FGFR1, FGF16, WNT10A, IGF1R, FGF20, RB1, FGF3, NR0B2, ERBB4, PDGFRA, PCNA, FGFR4, HGF, PIK3CA, AKT1, HRAS, FGF17, EGFR, CDK4, SPRY2, MYC, RAF1, FGFR3, IGF1, PIK3R5, BRAF, STAT3, DUSP6, PIK3R1, BMP4, MITF, PDGFB

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 20, 22, 3, 4, 5, 6, 7, 8, 9, X0
Hedgehog signaling pathwayYesN1.31808e-056.296

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MULLERIAN APLASIA AND HYPERANDROGENISM, BASAL CELL NEVUS SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MICROPHTHALMIA WITH COLOBOMA 5, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, EXUDATIVE VITREORETINOPATHY 4, HOLOPROSENCEPHALY-7, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HOLOPROSENCEPHALY SEQUENCE HOLOPROSENCEPHALY 1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, TOOTH AGENESIS, SELECTIVE, 7, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, AORTIC VALVE DISEASE 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, POLYDACTYLY, PREAXIAL, TYPE IV, VAN BUCHEM DISEASE, TYPE 2, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HOLOPROSENCEPHALY-3, TOOTH AGENESIS, SELECTIVE, 4, 46XY SEX REVERSAL 7, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, SPLIT-HAND/FOOT MALFORMATION 6, FUHRMANN SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ?TETRA-AMELIA SYNDROME, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, SCHOPF-SCHULZ-PASSARGE SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, NON-IMMUNE HYDROPS FETALIS, CULLER-JONES SYNDROME, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, ALZHEIMER DISEASE-2, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), BANNAYAN-RILEY-RUVALCABA SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, OROFACIAL CLEFT 11, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, [BONE MINERAL DENSITY VARIABILITY 1], POLYCYSTIC LIVER DISEASE, ODONTOONYCHODERMAL DYSPLASIA, HOLOPROSENCEPHALY 11, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, ?BLEEDING DISORDER, PLATELET-TYPE, 19, BRACHYDACTYLY, TYPE A2, LARYNGOONYCHOCUTANEOUS SYNDROME, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, BRACHYDACTYLY, TYPE A1, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, OSTEOGENESIS IMPERFECTA, TYPE XV, LADD SYNDROME, PALLISTER-HALL SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HOLOPROSENCEPHALY-5, SEA-BLUE HISTIOCYTE DISEASE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, SERKAL SYNDROME, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, BRACHYDACTYLY, TYPE B1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

48

PTCH1, APOE, SMAD6, LRP5, LRP6, KCNMA1, RAB23, WNT7A, MYC, PTEN, ZIC2, TBX19, WNT3, GATA5, GAS1, FGF10, BMP2, PRKACA, EDA, OTX2, ROR2, WNT10A, CDH1, FZD6, WNT5A, PRKACG, CCND1, PTCH2, DHH, LRP2, WNT1, SUFU, IHH, GLI3, AKT1, CSNK1D, BMP4, WNT4, RUNX2, GSC, LAMA3, SHH, KDR, CDON, CTNNB1, PORCN, GLI2, WNT10B

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 3, 4, 5, 6, 7, 8, 9, X0
Platelet activationYesN1.19814e-094.45236

{PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, BARAITSER-WINTER SYNDROME 1, MOYAMOYA 6 WITH ACHALASIA, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, OSTEOGENESIS IMPERFECTA, TYPE I, ?LICHTENSTEIN-KNORR SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, CZECH DYSPLASIA, MARSHALL SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WAARDENBURG SYNDROME, TYPE 4A, PARKINSON DISEASE 1, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, BARAITSER-WINTER SYNDROME 2, CAFFEY DISEASE, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, GLANZMANN THROMBASTHENIA, {NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO}, STICKLER SYNDROME, TYPE I, CAMURATI-ENGELMANN DISEASE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, MYOPATHY, TUBULAR AGGREGATE, 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SUPRAVALVAR AORTIC STENOSIS, OTOPALATODIGITAL SYNDROME, TYPE II, ?PROGESTERONE RESISTANCE, STORMORKEN SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, ?STEEL SYNDROME, AORTIC VALVE DISEASE 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, VON WILLEBRAND DISEASE, PLATELET-TYPE, PSEUDOHYPOPARATHYROIDISM IA, MACULAR DYSTROPHY, PATTERNED, 2, RENAL TUBULAR DYSGENESIS, PCWH SYNDROME, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, VON WILLEBRAND DISEASE, TYPE 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 15, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ESSENTIAL HYPERTENSION, ?GLYCOPROTEIN IA DEFICIENCY, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, ?THROMBOXANE SYNTHASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE 3, FRONTOMETAPHYSEAL DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NOONAN SYNDROME 9, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, PRIMARY PULMONARY HYPERTENSION, FAMILIAL COLORECTAL CANCER, ?SPINOCEREBELLAR ATAXIA 41, KERATOSIS, SEBORRHEIC, SOMATIC, LONG QT SYNDROME 14, EHLERS-DANLOS SYNDROME, TYPE IV, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, BURKITT LYMPHOMA, AMYLOIDOSIS, FINNISH TYPE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, MYOPATHY, TUBULAR AGGREGATE, 2, DEAFNESS, AUTOSOMAL DOMINANT 13, OSSEOUS HETEROPLASIA, PROGRESSIVE, BLEEDING DISORDER DUE TO P2RX1 DEFECT, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 8, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, EPIDERMAL NEVUS, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, IMMUNODEFICIENCY 36, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 14, COLE-CARPENTER SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, WELANDER DISTAL MYOPATHY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, HETEROTOPIA, PERIVENTRICULAR, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, GHOSAL HEMATODIAPHYSEAL SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, LI-FRAUMENI SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, QUESTION MARK EARS, ISOLATED, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ADRENAL CORTICAL CARCINOMA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SED CONGENITA, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, ?BLEEDING DISORDER, PLATELET-TYPE, 19, BRACHYDACTYLY, TYPE A2, AVASCULAR NECROSIS OF THE FEMORAL HEAD, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DEAFNESS, AUTOSOMAL RECESSIVE 53, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PULMONARY VENOOCCLUSIVE DISEASE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, HEMOCHROMATOSIS TYPE 1, MALFORMATION OF THE HEART, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CARDIOMYOPATHY, DILATED, 1NN, AURICULOCONDYLAR SYNDROME 1, ?BLEEDING DISORDER, PLATELET-TYPE, 18, ATRIAL STANDSTILL 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 11, FIBROCHONDROGENESIS 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, GLIOMA SUSCEPTIBILITY 1, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FIBROCHONDROGENESIS 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, HOLOPROSENCEPHALY 11, EPITHELIAL RECURRENT EROSION DYSTROPHY, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SMED STRUDWICK TYPE, ?FIBROMATOSIS, GINGIVAL, 1, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ABCD SYNDROME, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, STICKLER SYNDROME, TYPE III, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MENTAL RETARDATION, X-LINKED 90, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, 46,XX SEX REVERSAL, TYPE 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LEGG-CALVE-PERTHES DISEASE, WAARDENBURG SYNDROME, TYPE 4C, ATAXIA-OCULOMOTOR APRAXIA 3, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, ATRIAL FIBRILLATION, FAMILIAL, 6, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, IMMUNODEFICIENCY 10, AORTIC ANEURYSM, FAMILIAL THORACIC 8, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

132

CALM1, CTNNA1, COL27A1, F2, TBXAS1, EDNRA, RASGRP2, COL1A1, P2RY12, GP1BA, GNAS, COL3A1, RPL5, KRIT1, AGT, COL11A2, GNAI3, COL5A1, ITGA2B, CTNNB1, BTK, FGA, AKT2, MYC, PIK3CA, FGG, IRS1, ADCY6, GNAI2, ANXA5, ITGA2, SOX9, ACTB, ITPR3, GNAQ, ERBB3, RB1CC1, SYN2, CAPN3, P4HB, FGB, NOS3, GP1BB, TIA1, TNF, MTOR, ADCY1, PRKACG, MEF2C, TBXA2R, PIK3CD, ORAI1, COL2A1, CCND1, GP6, ITPR1, PRKG1, PTPN1, GP9, ITPR2, ADCY5, CDON, BMPR2, PLIN1, STIM1, SMAD6, ITGB3, DDR2, IGF1, VWF, COL17A1, MYLK, FLNA, CASR, BMP2, EDNRB, FERMT3, ITGB2, AKT1, SLC9A1, KAT5, CFTR, COL18A1, TRPC3, TP53, EGFR, SLC9A3R1, LRPAP1, COL1A2, EDN1, SNCA, IL1B, RAF1, ECHS1, NPPA, PIK3R5, GSN, SOX10, GUCY1A3, MYH6, DLG3, KCNMA1, COL25A1, PGR, HTR1A, ACTG1, P2RX1, KNG1, MYLK2, PIK3R2, TGFB1, MMP2, COL5A2, ATM, SOS2, COL11A1, PLCB1, PRKACA, IGBP1, POMC, AKT3, SOS1, PLCG2, ZHX2, APP, HRAS, FASLG, GNRH1, NR3C1, FCGR2A, PLCB4, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Complement and coagulation cascadesYesN4.08762e-165.68131

C8 DEFICIENCY, TYPE I, ATROPHODERMA VERMICULATUM, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO}, FACTOR V DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, BASAL LAMINAR DRUSEN, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, FACTOR XIIIB DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, C8 DEFICIENCY, TYPE II, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ANGIOEDEMA, HEREDITARY, TYPE III, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ALPHA-2-MACROGLOBULIN DEFICIENCY, FACTOR XII DEFICIENCY, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DEAFNESS, AUTOSOMAL RECESSIVE 68, EPIDERMOLYTIC HYPERKERATOSIS, RENAL TUBULAR DYSGENESIS, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, VON WILLEBRAND DISEASE, TYPE 1, HYPERPROINSULINEMIA, C3 DEFICIENCY, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, C2 DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, HEMOPHILIA A, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, {BUDD-CHIARI SYNDROME}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, BURKITT LYMPHOMA, FRAXE, PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, FACTOR X DEFICIENCY, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, FACTOR VII DEFICIENCY, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY, COMMON VARIABLE, 6, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, KAPPA LIGHT CHAIN DEFICIENCY, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, CEREBRAL AMYLOID ANGIOPATHY, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, SMALL CELL CANCER OF THE LUNG, SOMATIC, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, HEMOPHILIA B, IMMUNODEFICIENCY, COMMON VARIABLE, 7, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MACROCEPHALY/AUTISM SYNDROME, HYPERPARATHYROIDISM, NEONATAL, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, COMPLEMENT FACTOR H DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ATRIAL STANDSTILL 2, PLASMA FIBRONECTIN DEFICIENCY, ?IMMUNODEFICIENCY 22, GLAUCOMA 1A, PRIMARY OPEN ANGLE, ATRIAL FIBRILLATION, FAMILIAL, 6, ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, [ECULIZUMAB, POOR RESPONSE TO], C1Q DEFICIENCY, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, VON WILLIBRAND DISEASE, TYPE 3, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, FLETCHER FACTOR (PREKALLIKREIN) DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, COMPLEMENT FACTOR I DEFICIENCY, MASP2 DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, 3MC SYNDROME 1, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, C1R/C1S DEFICIENCY, COMBINED, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, QUEBEC PLATELET DISORDER, FACTOR XIIIA DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, C4A DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

78

F12, LCK, SERPINC1, C3AR1, F5, F2, APP, F13A1, MYOC, C1QA, MASP1, SERPIND1, MYC, F13B, C2, CD46, CD59, PTEN, CFD, CD40, KNG1, VWF, FGB, AGTR1, PROS1, F9, C1QC, C1R, CR2, KLKB1, SPG7, TNF, IGKC, C1QB, THBD, CST3, LEP, F7, FN1, NGF, C5, FGA, NPPA, PROC, PLG, IL6, F8, CFI, RB1, IFNG, C4A, RUNX2, MASP2, RUNX1, MBL2, CALR, T, C3, A2M, SERPINE1, F10, SERPINF2, EGFR, S1PR2, CASR, FGG, SERPING1, C8A, SERPINA1, KRT1, LRP1, CFH, VCP, C8B, INS, CD81, CFB, PLAU

1, 10, 11, 12, 13, 14, 16, 17, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Pancreatic cancerYesN0.002695025.78114

?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, IMMUNODEFICIENCY 15, SHORT SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ATELOSTEOGENESIS, TYPE I, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, CARDIOFACIOCUTANEOUS SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, LEOPARD SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, LOEYS-DIETZ SYNDROME 2, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, ALPHA-2-MACROGLOBULIN DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, DILATED, 1NN, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INCONTINENTIA PIGMENTI, LARSEN SYNDROME, BOOMERANG DYSPLASIA, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, PARKINSON DISEASE 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, KERATOSIS, SEBORRHEIC, SOMATIC, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, BURKITT LYMPHOMA, {GLIOBLASTOMA 3}, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, EPIDERMAL NEVUS, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, IMMUNODEFICIENCY 33, {MELANOMA, CUTANEOUS MALIGNANT, 3}, MIRROR MOVEMENTS 2, {MELANOMA, CUTANEOUS MALIGNANT, 2}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLIOMA SUSCEPTIBILITY 1, ADRENAL CORTICAL CARCINOMA, CLOVE SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, CAMURATI-ENGELMANN DISEASE, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, PLASMA FIBRONECTIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, LOEYS-DIETZ SYNDROME 5, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PANCREATIC CANCER/MELANOMA SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MYHRE SYNDROME, PAPILLARY THYROID CARCINOMA, NOONAN SYNDROME 7, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MENTAL RETARDATION, X-LINKED 46, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ATAXIA-OCULOMOTOR APRAXIA 3, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LOEYS-DIETZ SYNDROME 4, ATELOSTEOGENESIS, TYPE III, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

54

CALM1, IRS1, BRCA2, ERBB2, TGFB2, NGF, AURKA, MYC, SMAD4, CD40, AKT3, PIK3R2, IKBKG, RAD51, STAT1, TGFB3, CDKN2A, TNF, TGFB1, MTOR, NFKB1, ESR1, CDK5, HRAS, AKT2, AKT1, KRAS, CCND1, FLNB, CREBBP, PIK3CD, BAX, CDKN1B, IKBKB, TGFBR1, PIK3CA, TP53, A2M, FN1, ARHGEF6, EGFR, CDK4, SNCA, RAF1, SMAD3, CDK6, PIK3R5, STAT3, TGFBR2, BRAF, PLG, SERPINE1, RB1, PIK3R1

1, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 3, 4, 5, 6, 7, 8, 9, X0
Endometrial cancerYesN0.002971066.1192

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MACULAR DYSTROPHY, PATTERNED, 2, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, DESMOID DISEASE, HEREDITARY, CARDIOFACIOCUTANEOUS SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, FRONTOTEMPORAL DEMENTIA, SUPRAVALVAR AORTIC STENOSIS, ALZHEIMER DISEASE, TYPE 4, ACNE INVERSA, FAMILIAL, 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, DILATED, 1NN, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, MISMATCH REPAIR CANCER SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, LOEYS-DIETZ SYNDROME 3, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, KERATOSIS, SEBORRHEIC, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, IMMUNODEFICIENCY 36, POLYCYTHEMIA VERA, SOMATIC, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLIOMA SUSCEPTIBILITY 1, ADRENAL CORTICAL CARCINOMA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, CLOVE SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ?FIBROMATOSIS, GINGIVAL, 1, MUIR-TORRE SYNDROME, MYHRE SYNDROME, PAPILLARY THYROID CARCINOMA, NOONAN SYNDROME 7, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PICK DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, CARDIOMYOPATHY, DILATED, 1U, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

40

NRAS, CTNNA3, CTNNB1, AXIN2, CTNNA1, MYC, SMAD4, PTEN, AKT3, PIK3R2, PSEN1, MLH1, MTOR, PPP2R1A, INSR, TCF7L2, AKT2, CDH1, KRAS, AXIN1, SOS1, PIK3CD, CCND1, JAK2, MAP2K2, EP300, PIK3CA, TP53, APC, AKT1, HRAS, EGFR, RAF1, SMAD3, PIK3R5, ESR1, SOS2, BRAF, ERBB2, PIK3R1

1, 10, 11, 12, 14, 15, 16, 17, 18, 19, 2, 22, 3, 5, 6, 7, 8, 90
Colorectal cancerYesN2.7093e-055.78103

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MIRROR MOVEMENTS 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DESMOID DISEASE, HEREDITARY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, SUPRAVALVAR AORTIC STENOSIS, LOEYS-DIETZ SYNDROME 2, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, ALPHA-2-MACROGLOBULIN DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, DILATED, 1NN, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, HYPERPROINSULINEMIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, MISMATCH REPAIR CANCER SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, CATARACT 16, MULTIPLE TYPES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, KERATOSIS, SEBORRHEIC, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, LYNCH SYNDROME I, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, EPIDERMAL NEVUS, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OCULOECTODERMAL SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLIOMA SUSCEPTIBILITY 1, ADRENAL CORTICAL CARCINOMA, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, CAMURATI-ENGELMANN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, 46XY SEX REVERSAL 6, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MUIR-TORRE SYNDROME, MYHRE SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, THROMBOCYTOPENIA 4, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, ATAXIA-OCULOMOTOR APRAXIA 3, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LOEYS-DIETZ SYNDROME 4, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

53

HGF, TGFB2, CTNNB1, AXIN2, MYC, SMAD4, CDK5, PIK3R2, TGFB1, CYCS, TCF7L2, PIK3CD, TGFB3, MSH6, MLH1, APC, MTOR, APPL1, ESR1, MAP3K1, PPP2R1A, AKT3, AKT1, FN1, KRAS, AXIN1, AKT2, CCND1, PRKCD, TP53, CRYAB, PCNA, TGFBR1, HDAC6, PIK3CA, A2M, SERPINE1, HRAS, DCC, CDK4, ACTN2, BAX, RAF1, SMAD3, CREBBP, PIK3R5, STAT3, MSH2, BRAF, INS, BCR, TGFBR2, PIK3R1

1, 10, 11, 12, 14, 15, 16, 17, 18, 19, 2, 20, 22, 3, 5, 6, 7, 8, 9, X0
Osteoclast differentiationYesN6.27552e-074.46213

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, PROSTATE CANCER 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?FIBROMATOSIS, GINGIVAL, 1, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, IMMUNODEFICIENCY 15, SHORT SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, LONG QT SYNDROME 15, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 38, {LEPROSY, SUSCEPTIBILITY TO}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, OROFACIAL CLEFT 11, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, AMYOTROPHIC LATERAL SCLEROSIS 19, MYOPATHY, MYOFIBRILLAR, 2, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HYPOPARATHYROIDISM FAMILIAL ISOLATED, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, PYCNODYSOSTOSIS, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 35, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INCONTINENTIA PIGMENTI, HYPERPROINSULINEMIA, PERIODIC FEVER, FAMILIAL, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ?IMMUNODEFICIENCY 22, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 10, BROOKE-SPIEGLER SYNDROME, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, PITUITARY DEPENDENT HYPERCORTISOLISM, FRONTOMETAPHYSEAL DYSPLASIA, CATARACT 16, MULTIPLE TYPES, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, NOONAN SYNDROME 9, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, KERATOSIS, SEBORRHEIC, SOMATIC, LONG QT SYNDROME 14, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, CARDIOMYOPATHY, HYPERTROPHIC, 4, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CYLINDROMATOSIS, FAMILIAL, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, EPIDERMAL NEVUS, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, DEAFNESS, AUTOSOMAL RECESSIVE 89, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, COMMON VARIABLE IMMUNODEFICIENCY 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, LISSENCEPHALY 3, IMMUNODEFICIENCY 36, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, {MELANOMA, CUTANEOUS MALIGNANT, 3}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, OTOPALATODIGITAL SYNDROME, TYPE I, TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, NEPHROTIC SYNDROME, TYPE 1, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, CARDIAC VALVULAR DYSPLASIA, X-LINKED, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLIOMA SUSCEPTIBILITY 1, ADRENAL CORTICAL CARCINOMA, CLOVE SYNDROME, SOMATIC, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CARDIOMYOPATHY, DILATED, 1II, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, LYMPHOPROLIFERATIVE SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, PULMONARY VENOOCCLUSIVE DISEASE 1, TUBEROUS SCLEROSIS 2, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CARDIOMYOPATHY, DILATED, 1NN, NASU-HAKOLA DISEASE, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PLASMA FIBRONECTIN DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, GLYCOGEN STORAGE DISEASE XI, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, PSEUDOHYPOPARATHYROIDISM IA, SMALL CELL CANCER OF THE LUNG, SOMATIC, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, LOEYS-DIETZ SYNDROME 1, AGAMMAGLOBULINEMIA 4, 46XY SEX REVERSAL 6, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, THROMBOCYTOPENIA 5, METACHONDROMATOSIS, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GLANZMANN THROMBASTHENIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAGET DISEASE OF BONE 3, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, OSTEOLYSIS, FAMILIAL EXPANSILE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, TIETZ ALBINISM-DEAFNESS SYNDROME, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, RUBINSTEIN-TAYBI SYNDROME 2, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, FACTOR XIIIA DEFICIENCY, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HETEROTOPIA, PERIVENTRICULAR, LOEYS-DIETZ SYNDROME 4, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

127

CALM1, MITF, CYBA, APPL1, TAB2, MYC, MEF2C, AKT3, GNAS, IKBKG, BMPR1A, ACP5, F2, AGT, CYLD, PPARG, CDK5, CALCR, CDH1, BTK, IL4R, AKT2, ERBB4, ADRB2, PIK3CA, NCF4, BMP4, TYROBP, TGFBR2, TNFRSF11B, TBK1, ERBB2, LDHA, TGFB2, MMP2, TUBA1A, CREBBP, ISG15, IFNAR2, IL12B, SQSTM1, TNF, MYD88, MTOR, CD3E, LEP, PIK3CD, NFKBIA, IL10, PTH, JAK2, STAT1, CRYAB, TGFBR1, EP300, FOXO1, TNFRSF1A, TSHR, IFNG, RB1, ITK, STAT3, TYK2, INS, IFNGR1, BMPR2, NCF1, NCF2, ITGB3, CTNNB1, BLNK, TREM2, CTSK, ETV6, CD40, MYBPC3, HLA-DRB1, FLNA, SYN1, NFKB2, FN1, CYBB, IGF1R, KARS, NPHS1, IKBKB, CASP8, MAPK8IP1, AKT1, IL1B, RAF1, F13A1, PIK3R5, STAT2, TLR2, LCK, TNFSF11, TNFRSF11A, NGF, PRKCD, B2M, NOS2, TLR4, CSF1R, PIK3R2, TGFB1, PTPN11, NFKB1, WAS, MAP3K1, GATA5, FLT3, POMC, IFNGR2, SOS1, TP53, FCGR2B, PLCG2, IL6, FCGR3A, HLA-C, CDK4, RNASEL, FCGR2A, SOS2, SERPINE1, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Thyroid cancerYesN0.002495186.8867

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BRANCHIOOTIC SYNDROME 1, ?OTOFACIOCERVICAL SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, GLIOMA SUSCEPTIBILITY 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CHOREA, HEREDITARY BENIGN, OCULOECTODERMAL SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 17, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LI-FRAUMENI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MULTIPLE ENDOCRINE NEOPLASIA IIB, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, MYHRE SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, RENAL ADYSPLASIA, LOEYS-DIETZ SYNDROME 3, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, NOONAN SYNDROME 7, MULTIPLE ENDOCRINE NEOPLASIA IIA, CARDIOFACIOCUTANEOUS SYNDROME, MELNICK-FRASER SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PAPILLARY THYROID CARCINOMA, ESTROGEN RESISTANCE, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, LEOPARD SYNDROME 3, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, SUPRAVALVAR AORTIC STENOSIS, RUBINSTEIN-TAYBI SYNDROME 2, ADRENAL CORTICAL CARCINOMA, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, NEUROCUTANEOUS MELANOSIS, SOMATIC, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, EPIDERMAL NEVUS, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CHOROID PLEXUS PAPILLOMA

25

NRAS, KRAS, MAP2K2, SMAD4, NTRK1, TCF7L2, TBP, TPM3, PPARG, TFG, CDH1, CTNNB1, CCND1, TP53, NKX2-1, MYC, RET, EP300, HRAS, EYA1, SMAD3, NR3C1, ESR1, BRAF, PAX8

1, 10, 11, 12, 14, 15, 16, 17, 18, 19, 2, 22, 3, 5, 6, 7, 80
Basal cell carcinomaYesN1.95238e-056.0797

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, MULLERIAN APLASIA AND HYPERANDROGENISM, BASAL CELL NEVUS SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MICROPHTHALMIA WITH COLOBOMA 5, FOCAL DERMAL HYPOPLASIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, DESMOID DISEASE, HEREDITARY, ODONTOONYCHODERMAL DYSPLASIA, HOLOPROSENCEPHALY-7, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, CONGENITAL DIAPHRAGMATIC HERNIA, APLASIA OF LACRIMAL AND SALIVARY GLANDS, TOOTH AGENESIS, SELECTIVE, 7, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, POLYDACTYLY, PREAXIAL, TYPE IV, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLIOMA SUSCEPTIBILITY 1, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HOLOPROSENCEPHALY-3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, TOOTH AGENESIS, SELECTIVE, 4, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, SPLIT-HAND/FOOT MALFORMATION 6, FUHRMANN SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, WAARDENBURG SYNDROME, TYPE 3, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LADD SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, SCHOPF-SCHULZ-PASSARGE SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, NON-IMMUNE HYDROPS FETALIS, CULLER-JONES SYNDROME, HOLOPROSENCEPHALY-9, BANNAYAN-RILEY-RUVALCABA SYNDROME, LI-FRAUMENI SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ADRENAL CORTICAL CARCINOMA, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, BRACHYDACTYLY, TYPE A2, MACROCEPHALY/AUTISM SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, WAARDENBURG SYNDROME, TYPE 1, OROFACIAL CLEFT 11, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, EXUDATIVE VITREORETINOPATHY 1, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SPONDYLOCOSTAL DYSOSTOSIS 5, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, IRIDOGONIODYSGENESIS, TYPE 2, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MYHRE SYNDROME, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), BRACHYDACTYLY, TYPE A1, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, CRANIOSYNOSTOSIS 6, OSTEOGENESIS IMPERFECTA, TYPE XV, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PALLISTER-HALL SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, RING DERMOID OF CORNEA, SERKAL SYNDROME, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, BRACHYDACTYLY, TYPE B1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

46

PTCH1, WNT7A, CTNNB1, AXIN2, MYC, SMAD4, PTEN, PRKACA, DVL3, WNT3, GLI3, TCF7L2, GATA5, FGF10, PITX2, BMP2, ZIC1, EDA, OTX2, WNT10A, FZD4, FZD6, AXIN1, WNT5A, DVL1, PTCH2, TP53, RUNX2, WNT1, SUFU, IHH, GSC, TBX6, APC, CDH1, ROR2, BMP4, T, WNT4, GLI2, PAX3, SHH, LRP6, PORCN, MUSK, WNT10B

1, 10, 11, 12, 14, 16, 17, 18, 19, 2, 20, 3, 4, 5, 6, 7, 8, 9, X0
Lipid metabolismYesN0.001728162.91449

ATROPHODERMA VERMICULATUM, HYPER-IGE RECURRENT INFECTION SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), LEUKOTRIENE C4 SYNTHASE DEFICIENCY, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, GLUTARICACIDURIA, TYPE I, CEROID LIPOFUSCINOSIS NEURONAL 6, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, RETINITIS PIGMENTOSA, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, BOUCHER-NEUHAUSER SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ?REYNOLDS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MANDIBULOACRAL DYSPLASIA, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, RENAL TUBULAR DYSGENESIS, GAUCHER DISEASE, TYPE IIIC, NEUROFIBROMATOSIS, FAMILIAL SPINAL, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, LEUKODYSTROPHY, HYPOMYELINATING, 11, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, MEND SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?WAISMAN SYNDROME, ICHTHYOSIS, X-LINKED, INCONTINENTIA PIGMENTI, HYPERPROINSULINEMIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, [BILIRUBIN, SERUM LEVEL OF, QTL1], HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, ?OPTIC ATROPHY 9, CK SYNDROME, SYNDACTYLY, TYPE III, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, FAMILIAL COLORECTAL CANCER, DOWLING-DEGOS DISEASE 1, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, VENTRICULAR SEPTAL DEFECT 1, EPILEPSY, PYRIDOXINE-DEPENDENT, NEUROFIBROMATOSIS, TYPE 1, AROMATASE EXCESS SYNDROME, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, INFANTILE NEUROAXONAL DYSTROPHY 1, KAHRIZI SYNDROME, PELGER-HUET ANOMALY, KLEEFSTRA SYNDROME, CATARACT 38, AUTOSOMAL RECESSIVE, ?ATRIAL FIBRILLATION 15, GHOSAL HEMATODIAPHYSEAL SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, LIPOPROTEIN LIPASE DEFICIENCY, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOSPADIAS 1, X-LINKED, ?FANCONI RENOTUBULAR SYNDROME 3, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MENTAL RETARDATION, X-LINKED 63, SENGERS SYNDROME, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, CORNELIA DE LANGE SYNDROME 5, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, [GILBERT SYNDROME], CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, GLAUCOMA 1A, PRIMARY OPEN ANGLE, CARDIOMYOPATHY, DILATED, 1A, TYROSINEMIA, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, HMG-COA SYNTHASE-2 DEFICIENCY, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 72, CPT DEFICIENCY, HEPATIC, TYPE IA, CPT DEFICIENCY, HEPATIC, TYPE II, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, COENZYME Q10 DEFICIENCY, PRIMARY, 3, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, DEAFNESS, AUTOSOMAL RECESSIVE 39, {PANIC DISORDER, SUSCEPTIBILITY TO}, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, 2-METHYLBUTYRYLGLYCINURIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, GAUCHER DISEASE, TYPE I, ?DIARRHEA 7, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BARTH SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, FARBER LIPOGRANULOMATOSIS, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PULMONARY HYPERTENSION, PRIMARY, 2, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, CEREBROTENDINOUS XANTHOMATOSIS, ATAXIA-TELANGIECTASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, CARDIOMYOPATHY, DILATED, 1NN, OSTEOGENESIS IMPERFECTA, TYPE IV, GM1-GANGLIOSIDOSIS, TYPE I, NEUROFIBROMATOSIS-NOONAN SYNDROME, PERIODIC FEVER, FAMILIAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, LONG QT SYNDROME 14, STRIATONIGRAL DEGENERATION, INFANTILE, ACETYL-COA CARBOXYLASE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MYOPATHY, MYOFIBRILLAR, 1, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, ALPHA-METHYLACETOACETIC ACIDURIA, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALOUF SYNDROME, EPIDERMAL NEVUS, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, CORTISONE REDUCTASE DEFICIENCY 2, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, CRIGLER-NAJJAR SYNDROME, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, {MELANOMA, CUTANEOUS MALIGNANT, 3}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, SPINOCEREBELLAR ATAXIA 1, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, GLYCEROL KINASE DEFICIENCY, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, GLYCOGEN STORAGE DISEASE VII, PULMONARY HYPERTENSION, PRIMARY, 3, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, APPARENT MINERALOCORTICOID EXCESS, KRABBE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 34, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HYPOBETALIPOPROTEINEMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, HEART-HAND SYNDROME, SLOVENIAN TYPE, ATRIAL FIBRILLATION, FAMILIAL, 6, CPT II DEFICIENCY, LETHAL NEONATAL, GAUCHER DISEASE, TYPE II, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SJOGREN-LARSSON SYNDROME, ACROKERATOSIS VERRUCIFORMIS, REVESZ SYNDROME, SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, ?ACAT2 DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, LATHOSTEROLOSIS, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, STARGARDT DISEASE 3, COENZYME Q10 DEFICIENCY, PRIMARY, 6, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CEROID LIPOFUSCINOSIS, NEURONAL, 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, CONGENITAL DIAPHRAGMATIC HERNIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, GLUTAMINE DEFICIENCY, CONGENITAL, DIAMOND-BLACKFAN ANEMIA 9, CARDIOMYOPATHY, HYPERTROPHIC, 3, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, OROTIC ACIDURIA, HMG-COA LYASE DEFICIENCY, NORUM DISEASE, OSTEOGENESIS IMPERFECTA, TYPE III, ATRIAL STANDSTILL 2, PEROXISOME BIOGENESIS DISORDER 2B, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, USHER SYNDROME TYPE 3B, GREENBERG SKELETAL DYSPLASIA, ESSENTIAL HYPERTENSION, ?THROMBOXANE SYNTHASE DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FANCONI RENOTUBULAR SYNDROME 2, [FLECK RETINA, FAMILIAL BENIGN], {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CATARACT 44, OSTEOGENESIS IMPERFECTA, TYPE I, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 2, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, VITAMIN D-DEPENDENT RICKETS, TYPE I, OCULOECTODERMAL SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX-MP, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, ?LAURENCE-MOON SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14, ?DYSTONIA, JUVENILE-ONSET, ALCOHOL DEPENDENCE, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, MARINESCO-SJOGREN SYNDROME, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, FISH-EYE DISEASE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, SPINOCEREBELLAR ATAXIA 38, ?CATARACT 30, PULVERULENT, PHYTANIC ACID STORAGE DISEASE, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, MCARDLE DISEASE, INFANTILE CEREBELLAR-RETINAL DEGENERATION, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, WATSON SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, MYOCLONUS, FAMILIAL CORTICAL, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, SPERMATOGENIC FAILURE 8, PANCREATIC LIPASE DEFICIENCY, ADRENAL CORTICAL CARCINOMA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, HEPATIC LIPASE DEFICIENCY, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, CONE-ROD DYSTROPHY 2, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, GLUCOCORTICOID RESISTANCE, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE VIII, HYPERCALCEMIA, INFANTILE, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HUTCHINSON-GILFORD PROGERIA, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, SUPRAVALVAR AORTIC STENOSIS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GLIOMA SUSCEPTIBILITY 9}, SMITH-LEMLI-OPITZ SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, HUNTINGTON DISEASE, MODY, TYPE I, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, VLCAD DEFICIENCY, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, LIEBENBERG SYNDROME, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, PREMATURE OVARIAN FAILURE 7, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, ?EPILEPSY, PROGRESSIVE MYOCLONIC, 8, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, KERATOSIS, SEBORRHEIC, SOMATIC, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, BJORNSTAD SYNDROME, CAFFEY DISEASE, NIEMANN-PICK DISEASE, TYPE A, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY, HAILEY-HAILEY DISEASE, CRIGLER-NAJJAR SYNDROME, TYPE II, IMMUNODEFICIENCY 33, WHIM SYNDROME, OLIVER-MCFARLANE SYNDROME, MICROCEPHALY, CONGENITAL CATARACT, AND PSORIASIFORM DERMATITIS, LI-FRAUMENI SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, GAUCHER DISEASE, TYPE III, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, PERRAULT SYNDROME 5, CHILD SYNDROME, DARIER DISEASE, METACHROMATIC LEUKODYSTROPHY, {PARKINSON DISEASE 18}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CHOROID PLEXUS PAPILLOMA, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, GLAUCOMA 1, OPEN ANGLE, E, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, MYOPATHY DUE TO CPT II DEFICIENCY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, WILSON-TURNER SYNDROME, ANDROGEN INSENSITIVITY, TREACHER COLLINS SYNDROME 3, SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE III, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MENTAL RETARDATION, X-LINKED 90, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, IMMUNODEFICIENCY 46, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 9, SMITH-KINGSMORE SYNDROME

286

CALM1, DHCR24, SLC34A1, PEX14, FANCM, CAV1, TNFRSF1A, LTC4S, PAFAH1B1, GLYCTK, MPDZ, MYC, DES, CYP2C19, ACADS, ACTB, LBR, CYP27A1, SC5D, IKBKG, SMARCA4, RPL5, CYP11B2, TERT, CPT1A, AGT, EGFR, HAX1, PPARG, CTNNB1, PTDSS1, CERS1, CCT5, UGT1A4, PCYT1A, ALB, NSDHL, APOB, RYR2, BAAT, PITX1, ARSE, STAT3, SELP, LCAT, ELOVL5, TFRC, VIM, FANCA, SPTAN1, CXCR4, COL1A1, AGK, PLA2G6, PIK3CA, AKR1C4, ACSL4, ACADSB, POR, COQ6, GPX1, POT1, CD40, LPIN1, HSD11B1, UMPS, ASAH1, ARL6IP1, CPT1C, LDLR, ACOX1, RBPJ, RAF1, NUBPL, EIF2B1, VLDLR, TPM1, CDK5, ACADM, KRAS, GJA1, APOA1, CBL, CASP8, PEX5, NPPA, CYP7B1, PLA2G7, CDK6, PLA2G2A, ALDH7A1, GLUL, PPT1, CYP3A5, FANCC, SMAD9, MTOR, CHAT, AMACR, NOS3, CEL, CRX, LMNA, AKT2, MSMO1, CYP11B1, HADHA, SCP2, EIF4G1, ESR1, GK, NR1I3, PTH, GLA, ADAMTS10, ATP6V1B1, ATP2C1, HSD17B3, LIPC, HNF4A, ELOVL4, PFKM, IL6, ADH1B, HARS, GCDH, TECR, HTT, NOL3, RPS10, TAZ, TSHR, IFNG, GPD1, UGT1A1, FGF23, ACADVL, CYP24A1, PNPLA6, NUP62, CYP2R1, JAGN1, INS, SLC35A2, ALDH2, TUBA8, ACO2, POLR1C, GLB1, RAB39B, AGL, ACAT1, REN, EBP, CYP2C9, PYGM, KRT5, SMPD1, CBS, EPHX2, CYP27B1, MYLK, SPTLC2, MCPH1, LEP, SIL1, CTSD, VHL, ALOX5, BCS1L, PPP2R1A, ALDH3A2, TBXAS1, HMGCL, AKT1, CPT2, GALE, HADHB, VDR, ACACA, MRPL3, BRCA1, SRD5A2, ATXN1, HINT1, TP53, PRKCD, LIPA, ARSB, ALOX12B, AGPS, HGF, HSD11B2, ACAT2, GPD2, CDK4, TINF2, IL1B, SLCO1B1, PTPN1, OGDH, ARSA, NF1, ECHS1, POMC, NEU1, ADH1C, DDOST, CYP2U1, HRAS, EIF2B5, SRD5A3, LSS, FAH, SSR4, BARD1, AR, DLG3, CYP21A2, NGF, HDAC8, MYH7, HCCS, TUBG1, CYP19A1, ATP2A2, HSD17B4, DHCR7, NR5A1, TNF, TGFB1, PLA2G5, ATM, GATA4, NUP155, NOS2, HADH, SPTLC1, PEX7, MT-CO2, PTGIS, GATA5, GALC, AKR1C2, AKR1D1, CERS3, ETFA, CYP2A6, LPL, ALDOA, ACTN4, C10orf2, TNFSF11, GBA, EHHADH, GNPAT, CYP1B1, GPX4, SMAD3, STS, PCNA, GBA2, TRH, APP, PEX19, DGKE, HSD3B2, FASLG, LRP1, DGAT1, GNRH1, AGPAT2, PDSS2, PNPLA2, NR3C1, HSPG2, CAD, CHKB, PIK3R1, HSD3B7, CYP17A1, HMGCS2, SERPINE1, GPD1L, COMT, PNLIP

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Metabolism of other amino acidsNoN0.04467234.92120

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, FAVISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, HEMOLYTIC ANEMIA DUE TO G6PD DEFICIENCY, GALACTOSE EPIMERASE DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, MICROPHTHALMIA, ISOLATED 8, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, INTERSTITIAL LUNG AND LIVER DISEASE, RETINITIS PIGMENTOSA, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, LEOPARD SYNDROME 3, BETA-UREIDOPROPIONASE DEFICIENCY, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GLIOMA SUSCEPTIBILITY 9}, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, RENAL TUBULAR DYSGENESIS, GLUTAMINE DEFICIENCY, CONGENITAL, OROTIC ACIDURIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, NOONAN SYNDROME 7, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HYPERPROINSULINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, SPASTIC ATAXIA 3, AUTOSOMAL RECESSIVE, ENHANCED S-CONE SYNDROME, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, NAXOS DISEASE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, NEPHROTIC SYNDROME, TYPE 8, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, PLASMA FIBRONECTIN DEFICIENCY, BURKITT LYMPHOMA, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5, EPILEPSY, PYRIDOXINE-DEPENDENT, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, DIHYDROPYRIMIDINURIA, ?HEMOCHROMATOSIS, TYPE 5, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, RETINITIS PIGMENTOSA 37, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, MALONYL-COA DECARBOXYLASE DEFICIENCY, GLYCINE ENCEPHALOPATHY, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ALCOHOL DEPENDENCE, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ?FANCONI RENOTUBULAR SYNDROME 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ADRENAL CORTICAL CARCINOMA, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, 5-OXOPROLINASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, NAIL-PATELLA SYNDROME, CYSTATHIONINURIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, GABA-TRANSAMINASE DEFICIENCY, PONTOCEREBELLAR HYPOPLASIA TYPE 2D, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, DEAFNESS, AUTOSOMAL RECESSIVE 39, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, 2-METHYLBUTYRYLGLYCINURIA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, GLUTATHIONE SYNTHETASE DEFICIENCY, LEUKODYSTROPHY, HYPOMYELINATING, 3, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SJOGREN-LARSSON SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

82

TUBA8, SMAD3, RRM2B, SHMT1, DAO, PPARG, REN, ALDH7A1, AIMP1, PAPSS2, MYC, ALDH6A1, HSD17B10, MT-CO2, ECHS1, AKT1, SELP, IDH1, ATM, GLUL, BAX, CTH, CAD, ABAT, VHL, G6PD, GLDC, MARS, CLIC2, ALDH3A2, HIBCH, DPYD, NR2E3, EIF2B2, ALDH2, HADHA, EHHADH, GALE, VDR, LMX1B, BAAT, GLUD2, BRAF, IL6, SMS, OPLAH, DPYS, FTH1, JUP, ALDH1A3, GPD2, AGXT, GPX4, MARS2, IDH2, GPX1, TP53, MLYCD, FN1, FKBP14, SEPSECS, HGF, MTR, GAD1, ACADSB, ARHGDIA, GFPT1, UPB1, ACADM, POT1, GCLC, UMPS, TNF, GLUD1, GSS, VCP, CPS1, ODC1, INS, TUFM, HADHB, NUBPL

1, 10, 11, 12, 14, 15, 16, 17, 19, 2, 20, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Amino acid metabolismYesN2.90664e-073.27356

HYPER-IGE RECURRENT INFECTION SYNDROME, GLUTARICACIDURIA, TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?UROCANASE DEFICIENCY, MANDIBULOACRAL DYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, BECKWITH-WIEDEMANN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, LIPOYLTRANSFERASE 1 DEFICIENCY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, NAXOS DISEASE, BRUNNER SYNDROME, FAMILIAL COLORECTAL CANCER, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, LEBER OPTIC ATROPHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CITRULLINEMIA, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, LYSYL HYDROXYLASE 3 DEFICIENCY, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, LUSCAN-LUMISH SYNDROME, KLEEFSTRA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY, MIRROR MOVEMENTS 2, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, RETINITIS PIGMENTOSA 13, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, ?FANCONI RENOTUBULAR SYNDROME 3, WIEDEMANN-STEINER SYNDROME, ?N-ACETYLASPARTATE DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 6, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, ?EPILEPSY, FAMILIAL TEMPORAL LOBE, 8, NICOLAIDES-BARAITSER SYNDROME, KERATITIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, CANAVAN DISEASE, HYPERPROLINEMIA, TYPE II, LEUKODYSTROPHY, HYPOMYELINATING, 10, GLAUCOMA 1A, PRIMARY OPEN ANGLE, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, TYROSINEMIA, TYPE I, HYPERLYSINEMIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HMG-COA SYNTHASE-2 DEFICIENCY, GABA-TRANSAMINASE DEFICIENCY, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, SACCHAROPINURIA, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, EHLERS-DANLOS SYNDROME, TYPE VI, DEAFNESS, AUTOSOMAL RECESSIVE 39, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, {PANIC DISORDER, SUSCEPTIBILITY TO}, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, ANEMIA, SIDEROBLASTIC, 1, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, TYROSINEMIA, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP C, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], BARAITSER-WINTER SYNDROME 1, SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE, GLUTAMINE DEFICIENCY, CONGENITAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, TREACHER COLLINS SYNDROME 2, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ?SPINOCEREBELLAR ATAXIA 26, AMINOACYLASE 1 DEFICIENCY, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, ALBINISM, OCULOCUTANEOUS, TYPE III, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, NEU-LAXOVA SYNDROME 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, TYROSINEMIA, TYPE III, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, NOONAN SYNDROME 7, ?PERRAULT SYNDROME 2, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, THYROID DYSHORMONOGENESIS 2A, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, CUTIS LAXA, AUTOSOMAL DOMINANT 3, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, SOTOS SYNDROME 1, COFFIN-SIRIS SYNDROME 3, STRIATONIGRAL DEGENERATION, INFANTILE, {AUTISM, SUSCEPTIBILITY TO, X-LINKED 6}, ACETYL-COA CARBOXYLASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 1, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, ALPHA-METHYLACETOACETIC ACIDURIA, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, MALOUF SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SEGAWA SYNDROME, RECESSIVE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE, [HISTIDINEMIA], ?INFANTILE LIVER FAILURE SYNDROME 1, HYPEROXALURIA, PRIMARY, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, {MELANOMA, CUTANEOUS MALIGNANT, 3}, LEIOMYOMATOSIS AND RENAL CELL CANCER, SPINOCEREBELLAR ATAXIA 1, LACTASE PERSISTENCE/NONPERSISTENCE, ADRENAL CORTICAL CARCINOMA, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, MICROPHTHALMIA, ISOLATED 8, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, GLYCOGEN STORAGE DISEASE VII, NEU-LAXOVA SYNDROME 1, COLOBOMA, OCULAR, SPINOCEREBELLAR ATAXIA 17, OHDO SYNDROME, X-LINKED, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HYPERPROINSULINEMIA, ASPARAGINE SYNTHETASE DEFICIENCY, ERYTHROCYTOSIS, FAMILIAL, 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, PYRUVATE CARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, HYPOBETALIPOPROTEINEMIA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, ?HYDROXYKYNURENINURIA, HEART-HAND SYNDROME, SLOVENIAN TYPE, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ISOVALERIC ACIDEMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SJOGREN-LARSSON SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?ACAT2 DEFICIENCY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, CALCIUM OXALATE UROLITHIASIS, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, GLYCINE N-METHYLTRANSFERASE DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP E, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, CONGENITAL DIAPHRAGMATIC HERNIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, METHYLMALONYL-COA EPIMERASE DEFICIENCY, CARDIOMYOPATHY, HYPERTROPHIC, 3, OROTIC ACIDURIA, HMG-COA LYASE DEFICIENCY, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, ?EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE, FOVEAL HYPOPLASIA 1, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, LOEYS-DIETZ SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 9, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, COLE-CARPENTER SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, COFFIN-SIRIS SYNDROME 4, ?DYSTONIA, JUVENILE-ONSET, ALCOHOL DEPENDENCE, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, SMALL CELL CANCER OF THE LUNG, SOMATIC, ATELEIOTIC DWARFISM, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CORNELIA DE LANGE SYNDROME 1, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, D-GLYCERIC ACIDURIA, MYOGLOBINURIA, RECURRENT, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, GALACTOSE EPIMERASE DEFICIENCY, CYSTATHIONINURIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, OPITZ-KAVEGGIA SYNDROME, EPILEPSY, PYRIDOXINE-DEPENDENT, ?CATARACT 30, PULVERULENT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DIAMOND-BLACKFAN ANEMIA 3, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, HYPERPROLINEMIA, TYPE I, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, PSEUDOHYPOALDOSTERONISM, TYPE IIE, PSEUDOHYPOALDOSTERONISM, TYPE 2, RUBINSTEIN-TAYBI SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 51, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, HYPERPARATHYROIDISM 1, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, ADENYLOSUCCINASE DEFICIENCY, TOURETTE SYNDROME, {GILLES DE LA TOURETTE SYNDROME, SUSCEPTIBILITY TO}, [SARCOSINEMIA], SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, ALBINISM, OCULOCUTANEOUS, TYPE IA, CARDIOFACIOCUTANEOUS SYNDROME, GILLESPIE SYNDROME, HUTCHINSON-GILFORD PROGERIA, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, THYROID HORMONE RESISTANCE, {GLIOMA SUSCEPTIBILITY 9}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, TATTON-BROWN-RAHMAN SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, LUJAN-FRYNS SYNDROME, MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY, BRUCK SYNDROME 2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, ALKAPTONURIA, NEPHROTIC SYNDROME, TYPE 8, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, WAARDENBURG SYNDROME, TYPE 3, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, ARGININEMIA, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, FUMARASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, GLYCINE ENCEPHALOPATHY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, LI-FRAUMENI SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, [SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES], [SKIN/HAIR/EYE PIGMENTATION 1, BLOND/BROWN HAIR], HYPOSPADIAS 1, X-LINKED, OPTIC NERVE HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, CHOROID PLEXUS PAPILLOMA, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, GLAUCOMA 1, OPEN ANGLE, E, GLYCOGEN STORAGE DISEASE XI, GLYCOGEN STORAGE DISEASE X, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, UTERINE LEIOMYOMA, BREAST-OVARIAN CANCER, FAMILIAL 1, HAWKINSINURIA, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, KABUKI SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, PEROXISOME BIOGENESIS DISORDER 2B, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

251

LMNA, HGF, APOB, PRPF8, QARS, MYC, HIBCH, PRPH, ACADS, ACTB, CUL3, POT1, ACTN1, GPT2, FANCE, CTH, POLD1, PCCB, MCM6, ACAT1, HDC, CDKN1B, DAO, OTX2, KDM1A, HARS2, MTAP, MCCC2, CTNNB1, GLYCTK, KMT2A, HADH, THRA, ASPM, RAB7A, VIM, FANCA, SPTAN1, TH, DES, ADH1C, HAL, ACY1, CDC73, MAOA, POR, DLD, GFPT1, BCKDHB, CREBBP, AUH, ARHGDIA, UMPS, LIPT1, GATM, KMT2C, THRB, HMGCS2, HERC2, SOX9, PGAM2, DDC, ECHS1, LIG4, UROC1, PAX6, BRAF, QDPR, PSPH, AR, P4HB, NOS3, CYP1B1, ALDH7A1, DNMT3A, PAXIP1, MYO5A, LMNB1, THPO, CAD, PITX3, SKIV2L, LDHA, PLOD3, HGD, ALDH6A1, ABAT, TPM1, AGXT, ALDH2, HADHA, PYCR1, BCKDHA, PLOD1, GFAP, RPS24, CCND1, WHSC1L1, JUP, POLR1D, MAT1A, FANCC, PFKM, EP300, ADH1B, RAD51, VCP, HSPD1, RBPJ, GCDH, MT-CYB, RPS10, GAD1, IFNG, ALAS2, PCBD1, PCNA, SUCLA2, GLUD1, TMLHE, ADD1, INS, SMC3, ARG1, TYRP1, CTSD, TPO, COMT, TUBA8, TUFM, CAV3, TYR, OAT, GNMT, ALDH4A1, FTCD, HSD17B10, SETD2, NUP62, KYNU, VWF, CBS, MCEE, PRODH, ADSL, EEF2, GAL, NAT8L, DMD, VHL, ALOX5, GLDC, ALDH3A2, PYCR2, BRCA1, GLUL, DBH, FN1, DMGDH, SMARCA4, GALE, HADHB, SMS, HMGCL, SETD1A, MED12, MUT, TP53, AASS, TUBGCP4, NEFL, ALDH1A3, PHGDH, RB1CC1, ARL6IP1, ACAT2, DBT, CDK4, PSAT1, MCCC1, DNMT3B, OGDH, ASS1, ACADM, PEX5, IL1B, XRCC4, NAGS, ALDH5A1, NME8, SLC5A7, PAH, RB1, FAH, OTC, TAT, ASNS, CORO1A, PAX7, NGF, ACACA, NOS2, PAX3, INPPL1, GRHPR, ASL, AHSG, SARDH, CYC1, AHCY, FTH1, KMT2D, ACADSB, MTR, HPD, NSD1, STAT3, MT-CO2, ATXN1, ABCA1, SMARCA2, PCCA, EHMT1, CPS1, DNMT1, SLC25A32, GLUD2, BPGM, IL6, EHHADH, SHMT1, GPX4, PLOD2, FH, AMT, TBP, HNMT, GAMT, SMARCB1, ASPA, ACTN2, GCSH, IVD, SMAD3, ALDH18A1, SELP, ESR1, ODC1, LARS, PC, ETFB

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Metabolism of cofactors and vitaminsYesN0.0005426213.88269

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, WOLFF-PARKINSON-WHITE SYNDROME, SUPRANUCLEAR PALSY, PROGRESSIVE, HYPOPHOSPHATASIA, INFANTILE, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, HYPERPARATHYROIDISM 1, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, HYPER-IGE RECURRENT INFECTION SYNDROME, CALCIUM OXALATE UROLITHIASIS, COPROPORPHYRIA, HARDEROPORPHYRIA, PITUITARY DEPENDENT HYPERCORTISOLISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, LONG QT SYNDROME 15, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, COENZYME Q10 DEFICIENCY, PRIMARY, 6, GLUCOCORTICOID RESISTANCE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, ALBINISM, OCULOCUTANEOUS, TYPE IA, RETINITIS PIGMENTOSA, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, MOLYBDENUM COFACTOR DEFICIENCY A, FRONTOTEMPORAL DEMENTIA, BETA-UREIDOPROPIONASE DEFICIENCY, LEBER CONGENITAL AMAUROSIS 9, LEBER CONGENITAL AMAUROSIS 14, RETINITIS PIGMENTOSA, JUVENILE, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, CALCIFICATION OF JOINTS AND ARTERIES, MANDIBULOACRAL DYSPLASIA, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, NEU-LAXOVA SYNDROME 2, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, TYROSINEMIA, TYPE III, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, CARDIOMYOPATHY, HYPERTROPHIC, 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, {MACULAR DEGENERATION, AGE-RELATED, 2}, SMITH-LEMLI-OPITZ SYNDROME, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, ATRIOVENTRICULAR SEPTAL DEFECT 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, LEUKODYSTROPHY, HYPOMYELINATING, 4, MODY, TYPE I, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), PSEUDOPSEUDOHYPOPARATHYROIDISM, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, COENZYME Q10 DEFICIENCY, PRIMARY, 7, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, CRIGLER-NAJJAR SYNDROME, TYPE I, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LIPOYLTRANSFERASE 1 DEFICIENCY, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, [BILIRUBIN, SERUM LEVEL OF, QTL1], ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, SYNDACTYLY, TYPE III, REVESZ SYNDROME, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, CRANIOSYNOSTOSIS, TYPE 2, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA 45, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC 6, MYASTHENIC SYNDROME, CONGENITAL, 16, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, ADAMS-OLIVER SYNDROME 3, FAMILIAL COLORECTAL CANCER, GLIOMA SUSCEPTIBILITY 1, LONG QT SYNDROME 14, COFFIN-SIRIS SYNDROME 3, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MYOPATHY, MYOFIBRILLAR, 1, BURKITT LYMPHOMA, HYPERBILIVERDINEMIA, INCONTINENTIA PIGMENTI, PRADER-WILLI SYNDROME, CONGENITAL DIAPHRAGMATIC HERNIA, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, MALOUF SYNDROME, CARDIOMYOPATHY, DILATED, 1A, RABSON-MENDENHALL SYNDROME, LATHOSTEROLOSIS, LEBER CONGENITAL AMAUROSIS 2, HARP SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, RETINITIS PIGMENTOSA 20, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, DIHYDROPYRIMIDINURIA, IMMUNODEFICIENCY 14, NON-IMMUNE HYDROPS FETALIS, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, KLEEFSTRA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, GLYCINE ENCEPHALOPATHY, HUNTINGTON DISEASE, LEBER CONGENITAL AMAUROSIS 13, IMMUNODEFICIENCY 33, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ALCOHOL DEPENDENCE, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, FOCAL FACIAL DERMAL DYSPLASIA 4, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, MUCOPOLYSACCHARIDOSIS VII, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, CARPAL TUNNEL SYNDROME, FAMILIAL, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, MENTAL RETARDATION, X-LINKED 63, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, GLOMUVENOUS MALFORMATIONS, PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA, OGDEN SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, COENZYME Q10 DEFICIENCY, PRIMARY, 1, MYOGLOBINURIA, RECURRENT, GLAUCOMA 1A, PRIMARY OPEN ANGLE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, BIOTINIDASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, GLAUCOMA 1, OPEN ANGLE, E, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, HYPERLYSINEMIA, PSEUDOHYPOPARATHYROIDISM IA, PARIETAL FORAMINA 1, HUTCHINSON-GILFORD PROGERIA, MYOPATHY DUE TO CPT II DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, DILATED CARDIOMYOPATHY 1DD, ?CATARACT 30, PULVERULENT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPERPROINSULINEMIA, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, LEUKOCYTE ADHESION DEFICIENCY, 46,XX SEX REVERSAL, TYPE 2, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, ALEXANDER DISEASE, SACCHAROPINURIA, LEUKODYSTROPHY, HYPOMYELINATING, 9, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, HYPOPHOSPHATASIA, CHILDHOOD, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, CPT DEFICIENCY, HEPATIC, TYPE II, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, GLUCOCORTICOID DEFICIENCY 4, ESTROGEN RESISTANCE, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CRIGLER-NAJJAR SYNDROME, TYPE II, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, HEART-HAND SYNDROME, SLOVENIAN TYPE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PICK DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, ANEMIA, SIDEROBLASTIC, 1, HAWKINSINURIA, [GILBERT SYNDROME], ?MICROPHTHALMIA, SYNDROMIC 1, MOLYBDENUM COFACTOR DEFICIENCY B, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?DIARRHEA 7, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, CODAS SYNDROME, CPT II DEFICIENCY, LETHAL NEONATAL, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, CARDIOMYOPATHY, DILATED, 1V, COLE DISEASE, TYROSINEMIA, TYPE II, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

161

CALM1, UROD, CYP2C9, HLCS, GLMN, UGT1A1, MYC, SPTLC1, CPT2, ACP2, NT5E, IKBKG, ACP5, TYR, GUSB, ENPP1, GFAP, PPARG, MTHFR, HIBCH, UGT1A4, GGCX, ALB, SMN2, BTK, LIAS, DPYS, LRAT, VIM, FTCD, DES, COQ7, PNPO, ACSL4, CDC73, POR, IRS1, NAA10, CYP26C1, PRKAG2, LIPT1, RBPJ, SOX9, ADH1B, MMP2, QDPR, IGF2, GNAS, NOS3, SHMT1, LMNB1, EARS2, MAPT, CAD, MOCS2, CASK, LMNA, BTD, PIK3CD, NNT, ALAD, ABCA1, ABCB7, MSX2, RDH5, LONP1, NR1I3, CD27, SUCLA2, HTT, EP300, HSPD1, CYP2C19, DPYD, TNNT2, RBP4, PANK2, STAT3, INS, MOCS1, ALDH2, MT-CO1, TUFM, CP, TTR, ALPL, OAT, GJA1, HMBS, MMAB, HSD17B10, CDK5, SPR, SC5D, PSEN2, NMNAT1, HNF4A, PPOX, NDN, AKT1, RPE65, COQ2, MRPL3, PRKCD, AASS, NEFL, ITGB2, COX15, PTS, FECH, COASY, UROS, PSAT1, IL1B, GCSH, UPB1, NT5C2, COQ4, ADH1C, RYR2, ALAS2, VKORC1, TAT, SMARCB1, MTFMT, HCCS, MTHFD1, DHCR7, AHSG, CYP1B1, NOS2, MTR, HPD, RARS, FXN, INSR, BLVRA, TPK1, CYP2A6, RDH12, IL6, ABCA4, CPOX, NT5C3A, AMT, PNP, BCO1, COQ6, CYP3A5, DGAT1, RDH11, NR3C1, TNF, ESR1, ATIC, TINF2, GCH1, DHFR, COX10, DMPK, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Glycan biosynthesis and metabolismYesN0.0007571824.07239

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, MANNOSIDOSIS, ALPHA-, TYPES I AND II, GAUCHER DISEASE, PERINATAL LETHAL, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, MANNOSIDOSIS, BETA, RETINITIS PIGMENTOSA 73, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, AMISH INFANTILE EPILEPSY SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 38, DESBUQUOIS DYSPLASIA 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, COLE-CARPENTER SYNDROME 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE, BARAITSER-WINTER SYNDROME 2, BURKITT LYMPHOMA, FECHTNER SYNDROME, MUCOPOLYSACCHARIDOSIS IS, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, CARCINOID TUMORS, INTESTINAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, CONGENITAL DIAPHRAGMATIC HERNIA, MEDULLARY CYSTIC KIDNEY DISEASE 1, SUPRAVALVAR AORTIC STENOSIS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, CORNEAL DYSTROPHY, CONGENITAL STROMAL, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, TRIGONOCEPHALY 1, EXOSTOSES, MULTIPLE, TYPE 1, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, GAUCHER DISEASE, TYPE IIIC, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, ADAMS-OLIVER SYNDROME 5, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, FUCOSIDOSIS, LEUKODYSTROPHY, HYPOMYELINATING, 11, SPINOCREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, OSTEOGENESIS IMPERFECTA, TYPE IV, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HYPERPROINSULINEMIA, HAJDU-CHENEY SYNDROME, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, ESSENTIAL HYPERTENSION, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, [BILIRUBIN, SERUM LEVEL OF, QTL1], MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, EHLERS-DANLOS SYNDROME, TYPE 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE, SPONDYLOOCULAR SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, FAMILIAL COLORECTAL CANCER, MUCOPOLYSACCHARIDOSIS II, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, JACKSON-WEISS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SEBASTIAN SYNDROME, [BOMBAY PHENOTYPE], TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, EPIDERMAL NEVUS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, GAUCHER DISEASE, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ALAGILLE SYNDROME 2, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, CHIME SYNDROME, NON-IMMUNE HYDROPS FETALIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, KLEEFSTRA SYNDROME, HARTSFIELD SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE II, OCULOECTODERMAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, OSTEOGENESIS IMPERFECTA, TYPE II, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SPINOCEREBELLAR ATAXIA 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, CHONDROSARCOMA, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT, TRICHOHEPATOENTERIC SYNDROME 2, GAUCHER DISEASE, TYPE III, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, TANGIER DISEASE, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, ADULT I PHENOTYPE WITHOUT CATARACT, [BLOOD GROUP, II], ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, CALCIUM OXALATE UROLITHIASIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, DEAFNESS, AUTOSOMAL DOMINANT 17, EPSTEIN SYNDROME, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MALFORMATION OF THE HEART, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, PCWH SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 3, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, OSTEOGENESIS IMPERFECTA, TYPE III, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, GLAUCOMA 1, OPEN ANGLE, E, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, WAGNER SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, DEAFNESS, AUTOSOMAL DOMINANT 20/26, PETERS-PLUS SYNDROME, ASPARTYLGLUCOSAMINURIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, MUCOPOLYSACCHARIDOSIS IH/S, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DOWLING-DEGOS DISEASE 2, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, MUCOPOLYSACCHARIDOSIS, MPS-III-A, KANZAKI DISEASE, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28, ADAMS-OLIVER SYNDROME 4, TREACHER COLLINS SYNDROME 3, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MAY-HEGGLIN ANOMALY, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 46, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, LOEYS-DIETZ SYNDROME 4, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, UROFACIAL SYNDROME 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, [GILBERT SYNDROME], CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, DOWLING-DEGOS DISEASE 4, CATARACT 13 WITH ADULT I PHENOTYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, EXOSTOSES, MULTIPLE, TYPE 2, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, GAUCHER DISEASE, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, WAARDENBURG SYNDROME, TYPE 4C, MUCOPOLYSACCHARIDOSIS IVA, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, PROTEUS SYNDROME, SOMATIC

141

UGT1A1, FUCA1, NEU1, CAV1, PIGV, PLOD3, MYC, PIGW, PIGT, HEXB, RPL5, GUSB, POGLUT1, HAX1, MGAT2, ALG3, STT3B, CDH1, SOX10, MANBA, MAN2B1, ALG1, DPM2, COL1A1, PGAP1, EOGT, ALG2, POMGNT1, GALNS, ST3GAL5, ERBB2, HPSE2, PIGO, PIGM, PIGG, WWOX, CD81, ATN1, PIGY, ACAN, KRAS, ST3GAL3, APOA1, ISG15, DPAGT1, P4HB, IDS, HYAL1, HS6ST1, NAGA, TNF, SKIV2L, FGFR1, FUT1, MOGS, ALG11, VCAN, STT3A, NR1I3, MET, ALG10, MUC1, SGSH, DSE, GALNT3, POMT2, B3GLCT, SDC3, ALG6, FGF23, INS, CHST6, MAN1B1, BANF1, POLR1C, GLB1, HEXA, XYLT2, EXT1, CHST14, GNS, FUT2, TGFB2, B4GALT7, GALNT14, B4GALNT1, AKT1, SDHD, NAGLU, ATXN1, DOLK, NOTCH2, CHSY1, MUC7, OPTN, SELE, PIGN, B3GALT6, DDOST, IDUA, HGSNAT, CHST3, PIGA, NDST1, GCNT2, PIGC, CD59, ACTG1, DPM1, B3GAT3, XYLT1, PIGL, B4GALT1, VCP, MYH9, TGFB1, STX1B, B4GAT1, POMT1, CD44, NOTCH1, TUSC3, SLC33A1, IL6, GBA, ZHX2, GLA, DCN, GBA2, GPC3, AGA, HRAS, FASLG, POFUT1, DNAJC3, NR3C1, HSPG2, EXT2, KDR, ALG13, ARSB

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 22, 3, 4, 5, 6, 7, 8, 9, X0
FoxO signaling pathwayYesN0.0009953654.25234

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, WOLFF-PARKINSON-WHITE SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, ATROPHODERMA VERMICULATUM, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, EHLERS-DANLOS SYNDROME, TYPE 3, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, WAARDENBURG SYNDROME, TYPE 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ENDOCRINE-CEREBROOSTEODYSPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, WIEDEMANN-STEINER SYNDROME, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, PHELAN-MCDERMID SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, OMENN SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MYOPATHY, MYOFIBRILLAR, 2, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, SUPRAVALVAR AORTIC STENOSIS, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, TRIGONOCEPHALY 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, MEIER-GORLIN SYNDROME 5, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, ?DEAFNESS, AUTOSOMAL DOMINANT 68, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, CARDIOMYOPATHY, DILATED, 1NN, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, PEPCK DEFICIENCY, MITOCHONDRIAL, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LOEYS-DIETZ SYNDROME 3, LEPRECHAUNISM, HYPERPROINSULINEMIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, ESSENTIAL HYPERTENSION, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, TUBEROUS SCLEROSIS-1, PEUTZ-JEGHERS SYNDROME, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, CATARACT 16, MULTIPLE TYPES, PARKINSON DISEASE 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, FAMILIAL COLORECTAL CANCER, KERATOSIS, SEBORRHEIC, SOMATIC, COFFIN-SIRIS SYNDROME 3, PSEUDOHYPOALDOSTERONISM, TYPE I, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, BURKITT LYMPHOMA, AMYLOIDOSIS, FINNISH TYPE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, LI-FRAUMENI SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, PARKINSON DISEASE 4, OSTEOGLOPHONIC DYSPLASIA, GRISCELLI SYNDROME, TYPE 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, HUNTINGTON DISEASE, {MELANOMA, CUTANEOUS MALIGNANT, 3}, GLYCOGEN STORAGE DISEASE IA, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOSPADIAS 1, X-LINKED, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 15, PITUITARY DEPENDENT HYPERCORTISOLISM, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ATAXIA-TELANGIECTASIA, DARIER DISEASE, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CORNELIA DE LANGE SYNDROME 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, WAARDENBURG SYNDROME, TYPE 3, SPINOCEREBELLAR ATAXIA 17, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, LOEYS-DIETZ SYNDROME 5, GLAUCOMA 1, OPEN ANGLE, E, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, SMALL CELL CANCER OF THE LUNG, SOMATIC, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LIDDLE SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ANDROGEN INSENSITIVITY, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, METACHONDROMATOSIS, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GLIOMA SUSCEPTIBILITY 1, ?FIBROMATOSIS, GINGIVAL, 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, MYHRE SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, RETT SYNDROME, CONGENITAL VARIANT, DEAFNESS, AUTOSOMAL RECESSIVE 37, NOONAN SYNDROME 7, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, PARKINSON DISEASE, JUVENILE, TYPE 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LEOPARD SYNDROME 1, THROMBOCYTOPENIA 5, CARDIOMYOPATHY, DILATED, 1II, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ACROKERATOSIS VERRUCIFORMIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

131

F2, KMT2A, MYC, RAG1, CDK6, PIK3CA, AGT, MYO5A, PPARG, FOXG1, CDH1, CTNNB1, G6PC3, STK11, AKT2, ITCH, CASP8, G6PC, MMP2, TGFBR2, SMAD4, CREBBP, PRKAG2, GNAI2, SLC2A4, RAG2, ERBB2, TGFB2, KRAS, SCNN1G, POMC, AR, HOMER2, IL12B, NOTCH1, SMARCB1, LRP1, TNF, MTOR, FGFR1, SCNN1A, PIK3CD, IL10, CCND1, NFKBIA, ICK, HTT, TGFBR1, EP300, FOXO1, MYO6, RB1, STAT3, BRAF, INS, SOS2, EEF1A2, APP, IL7R, IGF1, CDK5, ETV6, MEF2A, TGFB3, CASR, PCK1, GRIN2B, PLK4, FN1, CCND2, SMARCA4, KAT5, BRCA1, IGF1R, PARK2, TP53, FASLG, IKBKB, CD40, MAP2K2, MAPK8IP1, CDC6, SNCA, OPTN, RAF1, PIK3R5, GSN, IRS2, SHANK3, GABRG2, NRAS, IRS1, NGF, HNRNPK, PAX3, ALB, KNG1, CASP10, AKT1, TGFB1, PIK3R2, PTPN11, ATM, TBP, CFTR, ESR1, PRKACA, INSR, NOS3, AKT3, SOS1, DNMT1, ACTN4, IL6, CDKN1B, CRYAB, PCNA, FLNC, GRM1, PTEN, HRAS, EGFR, CDK4, SMAD3, ATP2A2, TSC1, PCK2, KDR, SERPINE1, NPM1, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
HIF-1 signaling pathwayYesN0.002301844.93156

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, SPINOCEREBELLAR ATAXIA 14, ?SPINOCEREBELLAR ATAXIA 26, CARDIOFACIOCUTANEOUS SYNDROME, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], MEDULLARY CYSTIC KIDNEY DISEASE 1, SUPRAVALVAR AORTIC STENOSIS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE XII, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, ATRIOVENTRICULAR SEPTAL DEFECT 3, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SYNDACTYLY, TYPE III, ATRANSFERRINEMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FILS SYNDROME, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, KERATOSIS, SEBORRHEIC, SOMATIC, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, BURKITT LYMPHOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, DYSTONIA 9, TUBEROUS SCLEROSIS 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, SEGAWA SYNDROME, RECESSIVE, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, IMMUNODEFICIENCY 36, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, THROMBOCYTHEMIA 3, IMMUNODEFICIENCY 38, MODY, TYPE II, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, WHIM SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CARPAL TUNNEL SYNDROME, FAMILIAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, ATRIAL STANDSTILL 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, CHERUBISM, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, ?CATARACT 30, PULVERULENT, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, ?BLEEDING DISORDER, PLATELET-TYPE, 19, GLANZMANN THROMBASTHENIA, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SHORT SYNDROME, ERYTHROCYTOSIS, FAMILIAL, 2, ESTROGEN RESISTANCE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MENTAL RETARDATION, X-LINKED 30/47, ERYTHROCYTOSIS, FAMILIAL, 3, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, RUBINSTEIN-TAYBI SYNDROME 2, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, ATAXIA-OCULOMOTOR APRAXIA 3, IMMUNODEFICIENCY 46, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ATRIAL FIBRILLATION, FAMILIAL, 6, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?GLYCOGEN STORAGE DISEASE XIII, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

88

CALM1, CYBA, MYC, PGK1, MUC1, ALDOA, AGT, EDN1, AKT2, EGLN1, VIM, TH, PIK3CA, TFRC, TEK, ERBB2, CREBBP, PRKACG, MAP2K2, NPPA, ISG15, IGF2, IL12B, NOS3, TNF, MTOR, SH3BP2, NR2F2, LEP, PIK3CD, PAK3, IFNG, TGFBR1, EP300, HSPD1, SPRY2, FANCA, STAT3, INS, IFNGR1, NCF1, TTR, NCF2, ITGB3, GJA1, IGF1, LDHA, IFNGR2, EEF2, GCK, VHL, AKT1, IGF1R, CASP8, PTPN1, PRKCG, HK1, PIK3R5, PLG, SLC2A1, CYBB, PRKCD, NOS2, TLR4, PIK3R2, PDHA1, ENO3, PTPN11, CXCR4, FTH1, TGFB1, NFKB1, INSR, AKT3, POLE, PLCG2, IL6, CDKN1B, TF, MEF2A, HRAS, EGFR, ACTN2, ALB, ESR1, JAK2, SERPINE1, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Type I diabetes mellitusNoN0.001912715.966

OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {PSORIASIS SUSCEPTIBILITY 1}, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HMG-COA SYNTHASE-2 DEFICIENCY, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, THROMBOCYTHEMIA 3, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, HYPERPROINSULINEMIA, PERIODIC FEVER, FAMILIAL, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, DIAMOND-BLACKFAN ANEMIA 6, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, CLOVE SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, KERATOSIS, SEBORRHEIC, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 7, MACROCEPHALY/AUTISM SYNDROME, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {HASHIMOTO THYROIDITIS}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, ?CARDIOMYOPATHY, DILATED, 2A, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, EPIDERMAL NEVUS, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, IMMUNODEFICIENCY 43, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V

35

FASLG, IRF1, NGF, HSPB1, IL10, PRF1, FAS, IL12B, PIK3CA, RPL5, TNF, CTLA4, HLA-DRB1, TNNI3, HLA-B, POMC, JAK2, TRAC, B2M, IL6, IFNG, HLA-C, PCSK9, HLA-DQB1, CALR, HLA-G, HSPD1, TNFRSF1A, IL1B, GAD1, PTEN, CD40, HLA-DQA1, INS, HMGCS2

1, 10, 11, 12, 14, 15, 19, 2, 20, 3, 5, 6, 7, 90
Cytokine-cytokine receptor interactionYesN4.6336e-073.48332

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, MULTIPLE FIBROADENOMAS OF THE BREAST, CORNEAL DYSTROPHY, LATTICE TYPE I, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, CAMURATI-ENGELMANN DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, HYPER-IGE RECURRENT INFECTION SYNDROME, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?IMMUNODEFICIENCY 16, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, SUPRAVALVAR AORTIC STENOSIS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA, ?NEUTROPHILIA, HEREDITARY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA WITH COLOBOMA 5, VENTRICULAR SEPTAL DEFECT 1, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1, SELECTIVE T-CELL DEFECT, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?HYPERPROLACTINEMIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?IMMUNODEFICIENCY 39, ATELEIOTIC DWARFISM, BRACHYDACTYLY, TYPE A1, C, PULMONARY VENOOCCLUSIVE DISEASE 1, OROFACIAL CLEFT 11, SPINOCEREBELLAR ATAXIA 14, ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], CANDIDIASIS, FAMILIAL, 9, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, HYPOPARATHYROIDISM FAMILIAL ISOLATED, CONGENITAL DIAPHRAGMATIC HERNIA, KOWARSKI SYNDROME, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, DEAFNESS, AUTOSOMAL DOMINANT 56, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, CHOANAL ATRESIA AND LYMPHEDEMA, LOEYS-DIETZ SYNDROME 2, LARON DWARFISM, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, ALPHA-2-MACROGLOBULIN DEFICIENCY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, RUBINSTEIN-TAYBI SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, RENAL TUBULAR DYSGENESIS, ACUTE MYELOID LEUKEMIA, M6 TYPE, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, BRACHYDACTYLY, TYPE C, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, IMMUNODEFICIENCY 35, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, ATRIOVENTRICULAR SEPTAL DEFECT 3, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 21, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, OSTEOGENESIS IMPERFECTA, TYPE IV, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, MULTIPLE SYNOSTOSES SYNDROME 2, KEUTEL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DEAFNESS, AUTOSOMAL RECESSIVE 68, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, DU PAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, PERIODIC FEVER, FAMILIAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, C3 DEFICIENCY, SPINOCEREBELLAR ATAXIA 15, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, FEINGOLD SYNDROME, ESSENTIAL HYPERTENSION, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CRANIOFRONTONASAL DYSPLASIA, C2 DEFICIENCY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, SYNDACTYLY, TYPE III, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, KAPPA LIGHT CHAIN DEFICIENCY, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, BLEEDING DISORDER, PLATELET-TYPE, 15, ?SPINOCEREBELLAR ATAXIA 41, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, KERATOSIS, SEBORRHEIC, SOMATIC, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, BRACHYDACTYLY, TYPE A1, D, OSTEOGENESIS IMPERFECTA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, RHEUMATOID ARTHRITIS, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, AURICULOCONDYLAR SYNDROME 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, LYMPHEDEMA, HEREDITARY, IA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, FRAXE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MYELOPEROXIDASE DEFICIENCY, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY, ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 30, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, CHOROID PLEXUS PAPILLOMA, IMMUNODEFICIENCY 36, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, PAPILLORENAL SYNDROME, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, EMBERGER SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, TOURETTE SYNDROME, {GILLES DE LA TOURETTE SYNDROME, SUSCEPTIBILITY TO}, CAFFEY DISEASE, AMYOTROPHIC LATERAL SCLEROSIS 19, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CLEFT PALATE, ISOLATED, BANNAYAN-RILEY-RUVALCABA SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, INFANTILE MYOFIBROMATOSIS 1, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, OSTEOGENESIS IMPERFECTA, TYPE II, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, QUESTION MARK EARS, ISOLATED, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, GLIOMA SUSCEPTIBILITY 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, IMMUNODEFICIENCY 15, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, ATRIAL SEPTAL DEFECT 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, HERMANSKY-PUDLAK SYNDROME 9, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, CALCIUM OXALATE UROLITHIASIS, DEAFNESS, AUTOSOMAL DOMINANT 64, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, GROWTH HORMONE INSENSITIVITY, PARTIAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TUBEROUS SCLEROSIS 2, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ALAGILLE SYNDROME 2, PULMONARY HYPERTENSION, PRIMARY, 3, IMMUNODEFICIENCY, COMMON VARIABLE, 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, PLASMA FIBRONECTIN DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, COLD-INDUCED SWEATING SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LISSENCEPHALY 3, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, WAGNER SYNDROME 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, CORNEAL DYSTROPHY, GROENOUW TYPE I, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, LOEYS-DIETZ SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, METACHONDROMATOSIS, KOSAKI OVERGROWTH SYNDROME, PIEBALDISM, IMMUNODEFICIENCY 42, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, THROMBOCYTHEMIA 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, HAJDU-CHENEY SYNDROME, 46,XX SEX REVERSAL, TYPE 2, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, LYMPHEDEMA, HEREDITARY, ID, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, CORNEAL DYSTROPHY, AVELLINO TYPE, MYHRE SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, PAGET DISEASE OF BONE 3, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, DEAFNESS, AUTOSOMAL RECESSIVE 39, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, FAMILIAL COLORECTAL CANCER, IMMUNODEFICIENCY, COMMON VARIABLE, 4, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, ?CANDIDIASIS, FAMILIAL, 8, LYMPHOPROLIFERATIVE SYNDROME 2, MAST CELL DISEASE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, THROMBOCYTHEMIA 3, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CHONDRODYSPLASIA, GREBE TYPE, RUBINSTEIN-TAYBI SYNDROME 2, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, THROMBOCYTOPENIA, CONGENITAL AMEGAKARYOCYTIC, FACTOR XIIIA DEFICIENCY, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, DEJERINE-SOTTAS DISEASE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ADRENAL CORTICAL CARCINOMA, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LOEYS-DIETZ SYNDROME 4, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

220

PARK7, MYC, FAS, SQSTM1, MYD88, TBXA2R, HMGA1, RPL5, CAV1, AGT, TGFBI, IGKC, PPARG, LEP, HDC, IRS2, CDH1, IL7R, IL4R, F2, PTPN14, CCL11, EGR2, THPO, IL21R, BMP4, CASP8, NDUFB11, PROK2, COL1A1, GDF5, NFKBIA, S1PR2, PIK3CA, MPO, PTPRJ, PRF1, BLOC1S6, TGFBR2, ERBB2, TNFRSF11B, FOXN1, SMAD4, CREBBP, GHSR, IL2RG, ERBB4, CSF2RB, TGFB2, ITPR3, MMP2, RUNX1, IL10, TUBA1A, EGFR, SERPINA1, POMC, IFNAR2, KNG1, IL12B, NOTCH2, AMHR2, IL17RA, C2, IL11RA, TNF, IL21, EDNRA, TNFRSF13C, OSMR, LIFR, PAX2, GHR, VCAN, CDKN1B, BMPR1A, CBL, MPL, MET, JAK2, STAT1, IRF8, TGFBR1, ITPR1, VEGFC, TNFRSF1A, TNFRSF4, CASR, IFNG, TNFRSF11A, STX11, STAT3, ITPR2, TYK2, FOXO1, IFNGR1, IRF7, BMPR2, GATA1, TNFRSF13B, EDN1, CD44, SHH, GJA1, IL2RA, SOX9, EP300, IGF1, MYCN, F13A1, FLT4, C3, IL12RB1, CD40LG, CHRM3, TGFB3, IFNGR2, IGFBP7, RORC, IL10RB, ACVR1, BMP2, FOXP3, MTOR, FN1, CCND2, TPI1, RAF1, IGF1R, APOA1, TP53, FASLG, TLR4, ACVR1B, TBX21, CD40, SLC9A3R1, HGF, A2M, AKT1, EDAR, HAX1, SELE, PRKCG, EFNB1, PTEN, TNFRSF10B, DIABLO, IRF1, GNRH1, THBD, STAT2, KAT5, KIT, RUNX2, GDF2, OCLN, CLCF1, CSF3R, IRS1, TNFSF11, PAX7, ZAP70, EDA, PRKCD, IL1B, NOS2, RETN, BMPR1B, CSF1R, NOS3, PIK3R2, TGFB1, TRAF3IP2, PTPN11, AMH, GATA4, GCGR, ESR1, KITLG, GATA5, FLT3, IL17RC, IL10RA, FADD, NUP214, LDLR, IL13, PDGFRB, CXCR4, TRPC3, IL6, EDARADD, JAK3, PDGFRA, BDNF, MGP, APP, ACTN1, FOXF1, TNC, HRAS, HLA-C, CDK4, DNMT3B, CD27, EPOR, SMAD3, IKBKB, ALB, HSPG2, SELP, PRLR, PDGFB, KDR, GH1, SERPINE1, CCL2, GATA2, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Prion diseasesYesN0.03718476.4560

ADAMS-OLIVER SYNDROME 5, C8 DEFICIENCY, TYPE I, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, GLYCOGEN STORAGE DISEASE XI, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, C1Q DEFICIENCY, LOEYS-DIETZ SYNDROME 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?FIBROMATOSIS, GINGIVAL, 1, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, HUNTINGTON DISEASE-LIKE 1, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GLYCOPROTEIN IA DEFICIENCY, C8 DEFICIENCY, TYPE II, ?BLEEDING DISORDER, PLATELET-TYPE, 19, EHLERS-DANLOS SYNDROME, TYPE 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, SPINOCEREBELLAR ATAXIA 15, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PLASMA FIBRONECTIN DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, BRACHYDACTYLY, TYPE A2, PRION DISEASE WITH PROTRACTED COURSE, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HYPERPARATHYROIDISM, NEONATAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BURKITT LYMPHOMA, NOONAN SYNDROME 4, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MALFORMATION OF THE HEART, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, [ECULIZUMAB, POOR RESPONSE TO], SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GLAUCOMA 1A, PRIMARY OPEN ANGLE, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {KURU, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, INSOMNIA, FATAL FAMILIAL, PROTEUS SYNDROME, SOMATIC

34

SOD1, MTNR1B, APP, MYOC, C1QA, MYC, ADRB2, LDHA, PRNP, NOTCH1, IL6, CASR, NFKB1, LEP, PRKACA, BMP2, ITGA2, AKT1, FN1, PRKACG, BAX, C1QB, IL1B, PCNA, MAP2K2, TGFBR1, ITPR1, SOS1, EGFR, C5, C1QC, C8A, C8B, SERPINE1

1, 11, 14, 19, 2, 20, 21, 3, 4, 5, 7, 8, 90
Infectious diseases: ParasiticYesN2.3282e-233.08511

{PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, HYPER-IGE RECURRENT INFECTION SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, IMMUNODEFICIENCY 15, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?IMMUNODEFICIENCY 39, CEROID LIPOFUSCINOSIS NEURONAL 6, CARASIL SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, MULTIPLE SYNOSTOSES SYNDROME 1, ?RETINAL ARTERIES, TORTUOSITY OF, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ALPHA-2-MACROGLOBULIN DEFICIENCY, ?STEEL SYNDROME, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 35, ATRIOVENTRICULAR SEPTAL DEFECT 3, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, HEMOPHILIA A, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LEPRECHAUNISM, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, C3 DEFICIENCY, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?GLYCOPROTEIN IA DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, EHLERS-DANLOS SYNDROME, TYPE 3, CATARACT 16, MULTIPLE TYPES, SYNDACTYLY, TYPE III, NAXOS DISEASE, BENIGN FAMILIAL HEMATURIA, ATRANSFERRINEMIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, FAMILIAL COLORECTAL CANCER, EPIDERMOLYSIS BULLOSA, PRETIBIAL, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], BURKITT LYMPHOMA, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, SELECTIVE T-CELL DEFECT, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, C8 DEFICIENCY, TYPE II, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, NOONAN SYNDROME 4, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, GLAUCOMA 1A, PRIMARY OPEN ANGLE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, ?CARDIOMYOPATHY, DILATED, 2A, OSTEOGENESIS IMPERFECTA, TYPE XVII, DEAFNESS, AUTOSOMAL RECESSIVE 39, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STICKLER SYNDROME, TYPE III, DEAFNESS, AUTOSOMAL DOMINANT 13, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, QUEBEC PLATELET DISORDER, 46,XX SEX REVERSAL, TYPE 2, PICK DISEASE, [ECULIZUMAB, POOR RESPONSE TO], IMMUNODEFICIENCY 20, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, CORTICAL MALFORMATIONS, OCCIPITAL, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, CORNEAL DYSTROPHY, AVELLINO TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, COMPLEMENT FACTOR D DEFICIENCY, MYOPIA 23, AUTOSOMAL RECESSIVE, EPIDERMOLYSIS BULLOSA PRURIGINOSA, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, SPINOCEREBELLAR ATAXIA 14, AMYOTROPHIC LATERAL SCLEROSIS 19, LISSENCEPHALY 5, ABCD SYNDROME, PYCNODYSOSTOSIS, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MEIER-GORLIN SYNDROME 5, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ATAXIA-TELANGIECTASIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NOONAN SYNDROME 9, IMMUNODEFICIENCY 19, [BLOOD GROUP, DUFFY SYSTEM], EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, AMYLOIDOSIS, FINNISH TYPE, TARSAL-CARPAL COALITION SYNDROME, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ?IMMUNODEFICIENCY 25, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, HARTSFIELD SYNDROME, KNOBLOCH SYNDROME 1, {MELANOMA, CUTANEOUS MALIGNANT, 3}, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, ADRENAL CORTICAL CARCINOMA, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, SPONDYLOPERIPHERAL DYSPLASIA, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DYSTONIA 25, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, SED CONGENITA, ATRIAL STANDSTILL 2, ?IMMUNODEFICIENCY 22, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, FIBROCHONDROGENESIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 6, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, C1Q DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, EPITHELIAL RECURRENT EROSION DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, AVASCULAR NECROSIS OF THE FEMORAL HEAD, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, DEAFNESS, AUTOSOMAL RECESSIVE 53, CD8 DEFICIENCY, FAMILIAL, LEGG-CALVE-PERTHES DISEASE, FACTOR XIIIA DEFICIENCY, ATRIAL FIBRILLATION, FAMILIAL, 6, SEA-BLUE HISTIOCYTE DISEASE, LEOPARD SYNDROME 1, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, CAMURATI-ENGELMANN DISEASE, PSEUDOACHONDROPLASIA, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4A, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, WERNER SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, PORETTI-BOLTSHAUSER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, CONGENITAL DIAPHRAGMATIC HERNIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, LOEYS-DIETZ SYNDROME 2, IMMUNODEFICIENCY 44, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, AORTIC VALVE DISEASE 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, TOENAIL DYSTROPHY, ISOLATED, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ALPORT SYNDROME, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE III, HOLOPROSENCEPHALY-3, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, EBD, BART TYPE, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, OSSEOUS HETEROPLASIA, PROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LISSENCEPHALY 3, C8 DEFICIENCY, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE I, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, COLE-CARPENTER SYNDROME 1, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, LOEYS-DIETZ SYNDROME 5, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 91, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, CORNEAL DYSTROPHY, GROENOUW TYPE I, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, NASU-HAKOLA DISEASE, PLASMA FIBRONECTIN DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, KOSAKI OVERGROWTH SYNDROME, FIBROCHONDROGENESIS 2, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, ?CATARACT 30, PULVERULENT, 46XY SEX REVERSAL 6, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, CATARACT 6, MULTIPLE TYPES, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?BLEEDING DISORDER, PLATELET-TYPE, 19, PORENCEPHALY 2, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, SPINOCEREBELLAR ATAXIA 12, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MARSHALL SYNDROME, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, CZECH DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, GLUCOCORTICOID RESISTANCE, CARDIOMYOPATHY, DILATED, 1JJ, BARAITSER-WINTER SYNDROME 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MYOPATHY, MYOFIBRILLAR, 2, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SUPRAVALVAR AORTIC STENOSIS, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, ACNE INVERSA, FAMILIAL, 3, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IA, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, TRIGONOCEPHALY 1, PIERSON SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, PERRY SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, FEINGOLD SYNDROME, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, AMELOGENESIS IMPERFECTA, TYPE IA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NEUTROPENIA, CYCLIC, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, NEPHROTIC SYNDROME, TYPE 8, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, JACKSON-WEISS SYNDROME, BRACHYDACTYLY, TYPE E2, INCONTINENTIA PIGMENTI, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, ARGININEMIA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, ?DEAFNESS, X-LINKED 6, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, THROMBOCYTHEMIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, ALZHEIMER DISEASE-2, IMMUNODEFICIENCY 33, WHIM SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, STICKLER SYNDROME, TYPE II, HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1, DELTA-BETA THALASSEMIA, LI-FRAUMENI SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, QUESTION MARK EARS, ISOLATED, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, PLATELET GLYCOPROTEIN IV DEFICIENCY, AURICULOCONDYLAR SYNDROME 1, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, CALCIUM OXALATE UROLITHIASIS, {LEPROSY, SUSCEPTIBILITY TO}, PCWH SYNDROME, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, EHLERS-DANLOS SYNDROME, TYPE IV, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, ?PRECOCIOUS PUBERTY, CENTRAL, 1, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, WOLCOTT-RALLISON SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, CATARACT 21, MULTIPLE TYPES, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PAGET DISEASE OF BONE 3, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, LARYNGOONYCHOCUTANEOUS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, THROMBOCYTOPENIA 4, TIETZ ALBINISM-DEAFNESS SYNDROME, MAST CELL DISEASE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, SPINOCEREBELLAR ATAXIA 42, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 7, SMITH-KINGSMORE SYNDROME

321

CALM1, SOD1, HGF, LAMB1, HBB, FGFR1, CD3D, CDK5, CD247, NCF1, MYC, CD8A, ADRB2, MT-CO2, ACTB, ITGB4, FAS, PSEN1, IKBKG, CYCS, COL3A1, IRF7, CYBA, AGT, A2M, COL11A2, PPARG, LEP, AGTR1, SPARC, CACNA1G, CD82, PTHLH, IGF2, FCGR3A, ALB, CDH1, BTK, APOB, SOX10, PLAU, B2M, KISS1R, F2, AKT2, F8, NOG, HSPB1, IL10, EPHA2, ERBB4, RAB7A, VIM, CDC6, PROK2, MMP1, COL10A1, IL10RA, NFKBIA, PIK3CA, TGFBI, SOS1, NCF4, PRF1, TYROBP, COL4A2, ABCA1, C1QC, CD59, GNAI2, TBK1, LRP1, ARHGDIA, SLC6A4, COMP, CD81, AQP2, ANXA5, ITGA2, ACTA1, ACE, ERBB2, TGFB2, KRAS, GJA1, APOA1, CBL, CIITA, EGFR, NPPA, IRF1, LDLR, WRN, PDGFRB, FLT4, NOS3, GSN, MYCN, IL6, DAG1, TNF, MYD88, MTOR, LDHA, TNNI3, PRKACG, CD3E, MET, SQSTM1, LAMA1, COL1A2, PIK3CD, CPOX, COL1A1, GFPT1, IFNG, CALR, C1R, DSP, COL18A1, MAFB, CCND1, PTH, GNAQ, JAK2, CD40LG, JUP, GNAI3, RELN, COL4A6, TGFBR1, ITPR1, C3, COL5A1, HSPD1, TNFRSF1A, TF, IRS1, ATP1B1, LAMA4, PTPN1, PPP2R2B, NLRP1, TNFRSF11A, IRF8, STAT3, DDR2, C8A, TYK2, IFNGR1, ARG1, CTSD, COL7A1, HLA-DQA1, GATA1, FCGR2A, TAB2, EDN1, NCF2, ITGB3, AGL, SHH, REN, SOX9, CTNNB1, EP300, IGF1, COL4A4, CTSK, MITF, SMPD1, NOS2, MEF2A, LAMA2, COL17A1, HLA-DRB1, TGFB3, IFNGR2, IGFBP7, MYOC, LAMA3, LAMB3, NFKB1, VHL, ALOX5, IL10RB, PPP2R1A, BMP2, EDNRB, ITGB2, C1QA, FN1, MMP2, ELANE, PRKDC, CYBB, SERPINB6, CFTR, COL4A3, PRKCD, C1QB, ACKR1, HLA-C, PCNA, LRP2, IKBKB, CD40, DCTN1, RB1CC1, COL27A1, MAPK8IP1, GNA11, LAMC3, CCL2, SNCA, TUBA1A, IL1B, HAX1, ACTA2, PRKCG, BAX, PLCB4, PTEN, F13A1, MUSK, PIK3R5, MAF, STAT2, KAT5, ITGA6, PLG, KIT, ZAP70, TLR2, SUMF1, COL2A1, LCK, KNG1, TNFSF11, HTRA1, KCNMA1, LYZ, IL4R, COL25A1, TUBG1, CD46, TLR4, ACTG1, GNAO1, LAMC2, HBA1, NGF, PIK3R2, AKT1, TGFB1, P4HB, COL5A2, AURKA, ATM, SOS2, THBS4, LRPAP1, EIF2AK3, COL11A1, IL12B, IRF3, STAT1, PLCB1, CFD, MAP3K1, TGFBR2, CD44, APOE, INSR, CRYAB, TAPBP, POMC, AKT3, FADD, TP53, MEF2C, CXCR4, FCGR2B, ACTN4, PTPRC, CD3G, RB1, CDKN1B, GNAL, DCN, HLA-DQB1, GNAS, COL4A1, COL4A5, APP, SLC9A3R1, CD36, ACTN1, HRAS, FASLG, CDK4, ACTN2, C5, SELE, PRKACA, SMAD6, SELP, SMAD3, SYN1, NR3C1, HSPG2, ESR1, ADCY1, CASP8, PIK3R1, C8B, PTPN11, LAMB2, SERPINE1, PPP2R1B, PDGFB

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Proteoglycans in cancerYesN1.95499e-133.85399

MULLERIAN APLASIA AND HYPERANDROGENISM, ROBINOW-SORAUF SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 15, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, HYPOPARATHYROIDISM FAMILIAL ISOLATED, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, VERTICAL TALUS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RENAL TUBULAR DYSGENESIS, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?GLYCOPROTEIN IA DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE 3, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, CATARACT 16, MULTIPLE TYPES, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, ATRIAL SEPTAL DEFECT 9, SPLIT-HAND/FOOT MALFORMATION 6, FAMILIAL COLORECTAL CANCER, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EPIDERMOLYSIS BULLOSA, PRETIBIAL, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ?TETRA-AMELIA SYNDROME, VENTRICULAR SEPTAL DEFECT 1, MYOPATHY, MYOFIBRILLAR, 5, BRACHYDACTYLY, TYPE A1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, CULLER-JONES SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ATRIAL SEPTAL DEFECT 2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, NICOLAIDES-BARAITSER SYNDROME, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, ABLEPHARON-MACROSTOMIA SYNDROME, HEMOCHROMATOSIS TYPE 1, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, EXUDATIVE VITREORETINOPATHY 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, BARBER-SAY SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MYOPATHY, DISTAL, TATEYAMA TYPE, HOLOPROSENCEPHALY-3, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, DEAFNESS, AUTOSOMAL RECESSIVE 39, SPLIT-HAND/FOOT MALFORMATION 1, NOONAN SYNDROME 7, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, OSTEOGENESIS IMPERFECTA, TYPE XV, UROFACIAL SYNDROME 1, HETEROTOPIA, PERIVENTRICULAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FANCONI ANEMIA, COMPLEMENTATION GROUP A, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ATELOSTEOGENESIS, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, FOCAL DERMAL HYPOPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MELNICK-NEEDLES SYNDROME, EPIDERMOLYSIS BULLOSA PRURIGINOSA, CAFFEY DISEASE, SPINOCEREBELLAR ATAXIA 14, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LEOPARD SYNDROME 3, SPHEROCYTOSIS, TYPE 1, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, POLYDACTYLY, PREAXIAL, TYPE IV, CARDIOMYOPATHY, DILATED, 1NN, ?MULTIPLE SYNOSTOSES SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, TOOTH AGENESIS, SELECTIVE, 4, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NOONAN SYNDROME 9, DENYS-DRASH SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, IMMUNODEFICIENCY 36, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, QUEBEC PLATELET DISORDER, HARTSFIELD SYNDROME, KNOBLOCH SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {MELANOMA, CUTANEOUS MALIGNANT, 3}, RUBINSTEIN-TAYBI SYNDROME 2, DUCHENNE MUSCULAR DYSTROPHY, ADRENAL CORTICAL CARCINOMA, SPONDYLOPERIPHERAL DYSPLASIA, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BECKER MUSCULAR DYSTROPHY, OROFACIAL CLEFT 11, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, EPITHELIAL RECURRENT EROSION DYSTROPHY, HYPERPROINSULINEMIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, IRIDOGONIODYSGENESIS, TYPE 2, TRANSIENT BULLOUS OF THE NEWBORN, LYMPHEDEMA, HEREDITARY, ID, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, AVASCULAR NECROSIS OF THE FEMORAL HEAD, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, LEGG-CALVE-PERTHES DISEASE, NEUROCUTANEOUS MELANOSIS, SOMATIC, LEOPARD SYNDROME 1, LOEYS-DIETZ SYNDROME 4, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, BASAL CELL NEVUS SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, SYNDACTYLY, TYPE III, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, ?LICHTENSTEIN-KNORR SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, DEJERINE-SOTTAS DISEASE, CONGENITAL DIAPHRAGMATIC HERNIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, AORTIC VALVE DISEASE 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, BOOMERANG DYSPLASIA, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, RIPPLING MUSCLE DISEASE, AXENFELD-RIEGER SYNDROME, TYPE 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, SORSBY FUNDUS DYSTROPHY, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SERKAL SYNDROME, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, POLYCYTHEMIA VERA, SOMATIC, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, OCULOECTODERMAL SYNDROME, WAGNER SYNDROME 1, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?DYSTONIA, JUVENILE-ONSET, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BETHLEM MYOPATHY 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ODONTOONYCHODERMAL DYSPLASIA, HOLOPROSENCEPHALY-7, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, NEPHROTIC SYNDROME, TYPE 4, CUTIS LAXA, AD, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PALLISTER-HALL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, NEPHROTIC SYNDROME, TYPE 3, RING DERMOID OF CORNEA, MASA SYNDROME, CRASH SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, BRACHYDACTYLY, TYPE B1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CZECH DYSPLASIA, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, GLUCOCORTICOID RESISTANCE, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, BARAITSER-WINTER SYNDROME 2, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, STICKLER SYNDROME, TYPE I, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SUPRAVALVAR AORTIC STENOSIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, EBD, BART TYPE, APLASIA OF LACRIMAL AND SALIVARY GLANDS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, TRIGONOCEPHALY 1, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, OCULODENTODIGITAL DYSPLASIA, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ATRIOVENTRICULAR SEPTAL DEFECT 4, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, JACKSON-WEISS SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SCHOPF-SCHULZ-PASSARGE SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, THROMBOCYTHEMIA 3, HOLOPROSENCEPHALY-9, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LI-FRAUMENI SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, CORPUS CALLOSUM, PARTIAL AGENESIS OF, SED CONGENITA, KNIEST DYSPLASIA, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), MACROCEPHALY/AUTISM SYNDROME, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, CALCIUM OXALATE UROLITHIASIS, {LEPROSY, SUSCEPTIBILITY TO}, DEAFNESS, AUTOSOMAL RECESSIVE 24, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, INFANTILE MYOFIBROMATOSIS 1, LEUKOCYTE ADHESION DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CRANIOSYNOSTOSIS, TYPE 1, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, NEPHROTIC SYNDROME, TYPE 6, CARDIOMYOPATHY, DILATED, 1II, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, ATELOSTEOGENESIS, TYPE III, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

200

COL10A1, CAV1, FGFR1, WNT5A, MYC, MAP2K2, ACTB, FAS, TWIST1, COL1A2, ANK2, ANK1, F2, ST3GAL3, AGT, OTX2, KDM1A, CDH1, CTNNB1, PLAU, WNT10A, EGR2, HGF, WT1, ERBB4, SPTAN1, COL1A1, DNM2, PIK3CA, ACTN4, FZD4, HOXD10, BMP4, TGFBR2, PDGFRB, HPSE2, SMAD4, FZD6, COL2A1, RAF1, ITGA2, ACTA1, WNT7A, RASA1, ERBB2, TGFB2, SMARCA4, ERBB3, GLI2, ELN, FGF9, CREBBP, NME1, WNT10B, IGF2, IL12B, NOS3, DAG1, COL6A1, GDNF, MTOR, EDNRA, PRKACG, MEF2C, EDA, SCARB2, ACTN1, PIK3CD, VCAN, JAK2, CBL, ITGA6, CCND1, MET, IFNG, WNT3, WNT1, MIB1, ITPR1, VEGFC, TLR2, ROR2, T, PTPN1, GSC, BIN1, STAT3, CD44, NOTCH1, INS, EZH2, PITX2, COL7A1, PLIN1, PTCH1, CAV3, FLNC, ITGB3, GJA1, SMARCA2, TWIST2, EP300, IGF1, DVL3, FLT4, PRKG1, PAX2, COL17A1, STAT1, KRAS, CASR, DMD, CD82, PPP2R1A, BMP2, RDX, BRCA1, ITGB2, FN1, KCNMA1, ITPR2, FOXO1, IGF1R, COL18A1, TP53, EGFR, AKT2, IKBKB, EPHB2, IHH, GLI3, AKT1, PTPRO, IL1B, PRKCG, PTEN, ITPR3, MUSK, PIK3R5, CRYAB, DLX5, RUNX2, PFKM, NRAS, FLNA, SLC9A1, PRKCD, NOS2, TLR4, ACTG1, NR3C1, CSF1R, PIK3R2, TGFB1, PLCE1, PTPN11, SOS2, GATA6, RRAS2, DVL1, FGF10, NFKB1, ACVR1, PRKACA, GATA5, INSR, TCF7L2, AKT3, PDGFB, SOS1, DNMT1, PLCG2, BRAF, IL6, ADRB2, GATA4, DCN, L1CAM, PAX3, GPC3, MEF2A, FLNB, HRAS, FASLG, CDK4, ACTN2, WNT4, SMAD6, TIMP3, ALB, ANK3, HSPG2, TNF, ESR1, PIK3R1, KDR, SERPINE1, PORCN, SHH, MMP2

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
MicroRNAs in cancerYesN4.27453e-094.3267

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, LATERAL MENINGOCELE SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, BRANCHIOOCULOFACIAL SYNDROME, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, 46XY SEX REVERSAL 9, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, {MELANOMA, CUTANEOUS MALIGNANT, 2}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 11, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MYOPATHY, MYOFIBRILLAR, 2, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, CATSHL SYNDROME, VESICOURETERAL REFLUX 8, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, CONGENITAL DIAPHRAGMATIC HERNIA, SUPRAVALVAR AORTIC STENOSIS, ?PROGESTERONE RESISTANCE, CORNEAL DYSTROPHY, CONGENITAL STROMAL, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, LOEYS-DIETZ SYNDROME 3, AORTIC VALVE DISEASE 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, LYMPHEDEMA, HEREDITARY, IA, MEIER-GORLIN SYNDROME 5, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, CARDIOMYOPATHY, HYPERTROPHIC, 3, HAY-WELLS SYNDROME, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, ADAMS-OLIVER SYNDROME 5, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, ATRIAL STANDSTILL 2, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, GLANZMANN THROMBASTHENIA, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HAJDU-CHENEY SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MOWAT-WILSON SYNDROME, HYPOCHONDROPLASIA, ESSENTIAL HYPERTENSION, AORTIC ANEURYSM, FAMILIAL THORACIC 8, GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, VERTICAL TALUS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, PEUTZ-JEGHERS SYNDROME, CORNELIA DE LANGE SYNDROME 2, CATARACT 16, MULTIPLE TYPES, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NOONAN SYNDROME 9, EHLERS-DANLOS SYNDROME, TYPE 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, FAMILIAL COLORECTAL CANCER, BLEEDING DISORDER, PLATELET-TYPE, 15, ?SPINOCEREBELLAR ATAXIA 41, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, KERATOSIS, SEBORRHEIC, SOMATIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, NEPHROTIC SYNDROME, TYPE 8, BRACHYDACTYLY, TYPE A1, D, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, MICROPHTHALMIA, SYNDROMIC 6, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, EPIDERMAL NEVUS, LIMB-MAMMARY SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ATAXIA-TELANGIECTASIA, NEUROFIBROMATOSIS, TYPE 1, LADD SYNDROME, SEGAWA SYNDROME, RECESSIVE, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, COFFIN-LOWRY SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, PAPILLORENAL SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, WEAVER SYNDROME, SORSBY FUNDUS DYSTROPHY, CORNELIA DE LANGE SYNDROME 3, DEAFNESS, AUTOSOMAL DOMINANT 56, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, COFFIN-SIRIS SYNDROME 4, INFANTILE MYOFIBROMATOSIS 1, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OCULOECTODERMAL SYNDROME, HUNTINGTON DISEASE, {MELANOMA, CUTANEOUS MALIGNANT, 3}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, OTOPALATODIGITAL SYNDROME, TYPE I, MENTAL RETARDATION, X-LINKED 19, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LI-FRAUMENI SYNDROME, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, HYPOSPADIAS 1, X-LINKED, GLIOMA SUSCEPTIBILITY 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, WIEDEMANN-STEINER SYNDROME, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ATRIAL SEPTAL DEFECT 2, BRACHYDACTYLY, TYPE A2, DESMOID DISEASE, HEREDITARY, MACROCEPHALY/AUTISM SYNDROME, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?MYOFIBROMATOSIS, INFANTILE 2, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, OROFACIAL CLEFT 11, DEAFNESS, AUTOSOMAL RECESSIVE 24, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, CARDIOMYOPATHY, DILATED, 1NN, ALAGILLE SYNDROME 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PULMONARY HYPERTENSION, PRIMARY, 3, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, BOHRING-OPITZ SYNDROME, GLAUCOMA 1A, PRIMARY OPEN ANGLE, FRONTOMETAPHYSEAL DYSPLASIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, GLAUCOMA 1, OPEN ANGLE, E, WAGNER SYNDROME 1, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SMALL CELL CANCER OF THE LUNG, SOMATIC, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, UTERINE LEIOMYOMA, HYPERCALCEMIA, INFANTILE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, KOSAKI OVERGROWTH SYNDROME, PLEUROPULMONARY BLASTOMA, ?CATARACT 30, PULVERULENT, PANCREATIC CANCER/MELANOMA SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ANDROGEN INSENSITIVITY, NEUTROPENIA, CYCLIC, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, IRIDOGONIODYSGENESIS, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, LYMPHEDEMA, HEREDITARY, ID, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, WATSON SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, ESTROGEN RESISTANCE, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, ADULT SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CUTIS LAXA, AD, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, QUEBEC PLATELET DISORDER, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, CALCIUM OXALATE UROLITHIASIS, DEJERINE-SOTTAS DISEASE, RING DERMOID OF CORNEA, ATRIAL FIBRILLATION, FAMILIAL, 6, MASA SYNDROME, CRASH SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, PULMONARY VENOOCCLUSIVE DISEASE 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CARDIOMYOPATHY, DILATED, 1II, HETEROTOPIA, PERIVENTRICULAR, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, PREMATURE AGING SYNDROME, PENTTINEN TYPE, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

143

CAV1, WNT5A, MYC, MAP2K2, ST14, TPM1, CDK6, ACTN1, SOS2, CDK5, CDH1, ZEB2, PLAU, UBB, STK11, CDKN2A, EGR2, NF1, GATA4, VIM, CDC6, TH, PIK3CA, MMP2, BMP4, ARHGDIA, TNXB, IGF1, CREBBP, SOX2, RBPJ, PDGFRB, ERBB2, TGFB2, KRAS, ERBB3, HOXD10, NPPA, AR, NOTCH2, TNC, NOS3, MTOR, MEF2C, PGR, VCAN, RASSF1, CCND1, MET, JUP, HTT, DCN, CD44, EP300, PRKG1, SPRY2, NOTCH3, RB1, RPS6KA3, TP63, DNMT3A, FOXO1, SMC3, PAX8, APP, ITGB3, CTNNB1, SMAD4, FLT4, VEGFC, PAX2, STAT1, ZFPM2, SYN1, PITX2, BMP2, RDX, BRCA1, ITGB2, SMC1A, CCND2, SMARCA4, ELANE, FOXP1, DVL1, TRPC3, TP53, IRS2, ELN, IKBKB, HNRNPK, EZH2, FN1, IL1B, PRKCG, RAF1, FGFR3, TFAP2A, CRYAB, NRAS, IRS1, FLNA, FRZB, NOS2, ASXL1, PIK3R2, AKT1, TGFB1, WNT3, ATM, CYP24A1, CYP1B1, DICER1, NFKB1, STAT3, GATA5, NOTCH1, SOS1, DNMT1, PLCG2, BAX, CDKN1B, GATA6, PDGFRA, L1CAM, PCNA, SMAD6, APC, PTEN, HRAS, EGFR, CDK4, ACTN2, DNMT3B, TIMP3, SMAD3, BMPR1B, HMGA2, ESR1, BMPR2, KDR, SERPINE1, PDGFB

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Pathways in cancerYesN3.60861e-182.65708

MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPERFERRITINEMIA-CATARACT SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, ?NEUTROPHILIA, HEREDITARY, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, ?IMMUNODEFICIENCY 39, DESMOID DISEASE, HEREDITARY, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, RETINITIS PIGMENTOSA, DYSTONIA-11, MYOCLONIC, OVARIAN DYSGENESIS 1, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, CATSHL SYNDROME, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, THROMBOCYTOPENIA 5, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?PROGESTERONE RESISTANCE, MULTIPLE SYNOSTOSES SYNDROME 1, ?RETINAL ARTERIES, TORTUOSITY OF, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, ALPHA-2-MACROGLOBULIN DEFICIENCY, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, TRICHOMEGALY, MUIR-TORRE SYNDROME, RENAL TUBULAR DYSGENESIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, VAN BUCHEM DISEASE, TYPE 2, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, BECKWITH-WIEDEMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, INCONTINENTIA PIGMENTI, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 8, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, CATARACT 16, MULTIPLE TYPES, SYNDACTYLY, TYPE III, NAXOS DISEASE, BENIGN FAMILIAL HEMATURIA, SPLIT-HAND/FOOT MALFORMATION 6, FAMILIAL COLORECTAL CANCER, MELNICK-FRASER SYNDROME, PIERSON SYNDROME, OVARIAN HYPERSTIMULATION SYNDROME, EPIDERMOLYSIS BULLOSA, PRETIBIAL, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], BURKITT LYMPHOMA, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, ?TETRA-AMELIA SYNDROME, VENTRICULAR SEPTAL DEFECT 1, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, BRACHYDACTYLY, TYPE A1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, LOEYS-DIETZ SYNDROME 1, EMBERGER SYNDROME, CULLER-JONES SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, MIRROR MOVEMENTS 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), ?WEBB-DATTANI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ATRIAL SEPTAL DEFECT 2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, AVASCULAR NECROSIS OF THE FEMORAL HEAD, KERATITIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, GLAUCOMA 1A, PRIMARY OPEN ANGLE, EXUDATIVE VITREORETINOPATHY 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, TOOTH AGENESIS, SELECTIVE, 1, WITH OR WITHOUT OROFACIAL CLEFT, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMAGE SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MYOPATHY, DISTAL, TATEYAMA TYPE, HOLOPROSENCEPHALY-3, DEAFNESS, X-LINKED 5, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SED, MAROTEAUX TYPE, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, CARNEY COMPLEX, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, ABCD SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, LEUKEMIA, CHRONIC MYELOID, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 39, SPLIT-HAND/FOOT MALFORMATION 1, NOONAN SYNDROME 7, CROUZON SYNDROME, METATROPIC DYSPLASIA, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, OSTEOGENESIS IMPERFECTA, TYPE XV, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, HOLOPROSENCEPHALY-5, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, BRACHYOLMIA TYPE 3, BRACHYDACTYLY, TYPE A2, HETEROTOPIA, PERIVENTRICULAR, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, CORTICAL MALFORMATIONS, OCCIPITAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?FIBROMATOSIS, GINGIVAL, 1, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, NON-IMMUNE HYDROPS FETALIS, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ATELOSTEOGENESIS, TYPE I, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, EPIDERMOLYSIS BULLOSA PRURIGINOSA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WEAVER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MACHADO-JOSEPH DISEASE, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], LISSENCEPHALY 5, LEOPARD SYNDROME 3, PICK DISEASE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MYXOMA, INTRACARDIAC, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, CLEFT PALATE, ISOLATED, POLYDACTYLY, PREAXIAL, TYPE IV, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CARDIOMYOPATHY, DILATED, 1NN, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, HOLOPROSENCEPHALY-9, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, TOOTH AGENESIS, SELECTIVE, 4, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NOONAN SYNDROME 9, ?RENAL HYPODYSPLASIA/APLASIA 2, JOUBERT SYNDROME 5, DENYS-DRASH SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, TOOTH AGENESIS, SELECTIVE, 7, LONG QT SYNDROME 14, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, TARSAL-CARPAL COALITION SYNDROME, DYSTONIA 9, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, CORNEAL DYSTROPHY, AVELLINO TYPE, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, METACARPAL 4-5 FUSION, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PALLISTER-HALL SYNDROME, HARTSFIELD SYNDROME, KNOBLOCH SYNDROME 1, [BONE MINERAL DENSITY VARIABILITY 1], TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CATARACT 5, MULTIPLE TYPES, VENTRICULAR SEPTAL DEFECT 3, {MELANOMA, CUTANEOUS MALIGNANT, 3}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, SPINOCEREBELLAR ATAXIA 1, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, ADRENAL CORTICAL CARCINOMA, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, SPINOCEREBELLAR ATAXIA 27, SPONDYLOPERIPHERAL DYSPLASIA, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ?SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE, CORNEAL DYSTROPHY, GROENOUW TYPE I, DYSTONIA 25, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, OROFACIAL CLEFT 11, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 1, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, COLOBOMA, OCULAR, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, BRANCHIOOTIC SYNDROME 1, LOEYS-DIETZ SYNDROME 5, HYPOTRICHOSIS 8, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, KOSAKI OVERGROWTH SYNDROME, BRACHYDACTYLY, TYPE B2, EPITHELIAL RECURRENT EROSION DYSTROPHY, LARSEN SYNDROME, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, BOOMERANG DYSPLASIA, PIEBALDISM, IRIDOGONIODYSGENESIS, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, LYMPHEDEMA, HEREDITARY, ID, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, DIABETES INSIPIDUS, NEPHROGENIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, ?PARKINSONISM WITH SPASTICITY, X-LINKED, HYPOBETALIPOPROTEINEMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, ERYTHROCYTOSIS, FAMILIAL, 3, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, OVARIAN RESPONSE TO FSH STIMULATION, LEGG-CALVE-PERTHES DISEASE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, ?GLYCOPROTEIN IA DEFICIENCY, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, BASAL CELL NEVUS SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, CAMURATI-ENGELMANN DISEASE, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HETEROTAXY, VISCERAL, 5, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, FECHTNER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, PORETTI-BOLTSHAUSER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, DEJERINE-SOTTAS DISEASE, CONGENITAL DIAPHRAGMATIC HERNIA, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, PARASTREMMATIC DWARFISM, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ALZHEIMER DISEASE, TYPE 4, AORTIC VALVE DISEASE 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, SADDAN, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, SPLENIC HYPOPLASIA, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, ESSENTIAL HYPERTENSION, HYPERPROINSULINEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, EBD, BART TYPE, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HYPOPHOSPHATEMIC RICKETS, AR, {GLIOBLASTOMA 3}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, AXENFELD-RIEGER SYNDROME, TYPE 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, SENIOR-LOKEN SYNDROME 6, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, LISSENCEPHALY 3, SERKAL SYNDROME, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, NEUTROPENIA, SEVERE CONGENITAL 2, AUTOSOMAL DOMINANT, POLYCYTHEMIA VERA, SOMATIC, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIA, OCULOECTODERMAL SYNDROME, INFANTILE MYOFIBROMATOSIS 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, OSTEOGENESIS IMPERFECTA, TYPE II, BRACHYDACTYLY, TYPE E2, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ALCOHOL DEPENDENCE, DEAFNESS, AUTOSOMAL RECESSIVE 35, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, SMALL CELL CANCER OF THE LUNG, SOMATIC, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, MIRROR MOVEMENTS 1, ODONTOONYCHODERMAL DYSPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, CORNELIA DE LANGE SYNDROME 1, HOLOPROSENCEPHALY-7, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SPINOCEREBELLAR ATAXIA 14, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, FRASIER SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, HYPOPLASTIC LEFT HEART SYNDROME 1, 46XY SEX REVERSAL 6, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, MAY-HEGGLIN ANOMALY, 46,XX SEX REVERSAL, TYPE 2, AMYOTROPHIC LATERAL SCLEROSIS 19, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, SMED STRUDWICK TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, STICKLER SYNDROME, TYPE I, ?BLEEDING DISORDER, PLATELET-TYPE, 19, PORENCEPHALY 2, NEPHROTIC SYNDROME, TYPE 4, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, ERYTHROCYTOSIS, FAMILIAL, 2, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LADD SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, SPERMATOGENIC FAILURE 8, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, RING DERMOID OF CORNEA, MASA SYNDROME, CRASH SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, BRACHYDACTYLY, TYPE B1, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, {BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO}, THANATOPHORIC DYSPLASIA, TYPE II, HYPERPARATHYROIDISM 1, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MULTIPLE SULFATASE DEFICIENCY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CZECH DYSPLASIA, IMMUNODEFICIENCY 21, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, GLUCOCORTICOID RESISTANCE, CARDIOMYOPATHY, DILATED, 1JJ, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CARDIOFACIOCUTANEOUS SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, GILLESPIE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MYOPATHY, MYOFIBRILLAR, 2, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SUPRAVALVAR AORTIC STENOSIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AURICULOCONDYLAR SYNDROME 3, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, APLASIA OF LACRIMAL AND SALIVARY GLANDS, ACNE INVERSA, FAMILIAL, 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, PSEUDOHYPOPARATHYROIDISM IA, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, TRIGONOCEPHALY 1, ?OTOFACIOCERVICAL SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, OCULODENTODIGITAL DYSPLASIA, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, RUBINSTEIN-TAYBI SYNDROME, PREMATURE OVARIAN FAILURE 7, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PITUITARY DEPENDENT HYPERCORTISOLISM, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, AMELOGENESIS IMPERFECTA, TYPE IA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, COWCHOCK SYNDROME, NEUTROPENIA, CYCLIC, ATRIOVENTRICULAR SEPTAL DEFECT 4, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, LYNCH SYNDROME I, JACKSON-WEISS SYNDROME, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, WAARDENBURG SYNDROME, TYPE 3, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, SCHOPF-SCHULZ-PASSARGE SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, FUMARASE DEFICIENCY, ?DEAFNESS, X-LINKED 6, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, THROMBOCYTHEMIA 3, CHOREA, HEREDITARY BENIGN, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, IMMUNODEFICIENCY 33, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, OPTIC NERVE HYPOPLASIA, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, {LEPROSY, SUSCEPTIBILITY TO}, EXUDATIVE VITREORETINOPATHY 4, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, MYOPIA 23, AUTOSOMAL RECESSIVE, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WAGNER SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 5, BLEEDING DISORDER, PLATELET-TYPE, 11, PANCREATIC CANCER/MELANOMA SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ANDROGEN INSENSITIVITY, LEUKOCYTE ADHESION DEFICIENCY, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LARYNGOONYCHOCUTANEOUS SYNDROME, THROMBOCYTOPENIA 4, NEPHROTIC SYNDROME, TYPE 12, TIETZ ALBINISM-DEAFNESS SYNDROME, MAST CELL DISEASE, MECKEL SYNDROME 4, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, KABUKI SYNDROME 1, NEPHROTIC SYNDROME, TYPE 6, CARDIOMYOPATHY, DILATED, 1II, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, ATELOSTEOGENESIS, TYPE III, SMITH-KINGSMORE SYNDROME

395

CALM1, TSC2, EZH2, LAMB1, FGFR1, RASGRP2, SLC34A1, CUL3, TBXA2R, RPL5, FTL, MSH6, KRIT1, PTPRO, AKT2, NOG, EGR2, ITGA3, FH, VCAN, GFI1B, ATN1, CREBBP, DMP1, RASA1, TRPV4, SOX2, ERBB3, FSHR, SLC9A3R1, AR, GNAS, DAG1, MTOR, LAMA1, HMGA1, LEP, PIK3CD, AIFM1, CBL, CCND1, JAK2, NKX2-1, JUP, ITPR1, VEGFC, ROR2, T, HTR2A, DUSP6, CAV3, GP6, CTNNB1, GABBR2, SMAD4, DVL3, ETV6, GDNF, CEP290, CD40LG, HDAC6, SLC2A1, LAMA3, PITX2, PPP2R1A, HES7, AKT1, LPAR6, NOS2, LRPAP1, GLI3, A2M, CSNK1D, IL1B, EFNB1, RAF1, POMC, KNG1, LRP5, TNFRSF11A, AURKA, AQP5, TUBG1, LAMC2, PIK3R2, LAMA2, PTPN11, CXCR4, GATA4, PLCB1, FGF5, NR4A2, FLT3, WNT10A, FGF3, PDGFRB, COL4A3, BDNF, RAB7A, SMAD6, CD36, LRP2, ATXN3, ALB, WNT10B, CTNNA1, SPRY4, APOB, MMP1, HSF4, PSEN1, GFAP, ITGA2B, WT1, COL4A5, CYCS, TGFBI, SOS1, MITF, GNAI2, TGFBR2, SOX9, TGFB2, GNAQ, MAP2K2, FGF9, ADCY6, ACTN1, NOTCH1, MYCN, EDNRA, SCARB2, FZD4, RASSF1, PRKACG, PTH, COL4A6, MEN1, PRKG1, HGF, RB1, FGF23, STAT3, RARB, BRAF, SOS2, COL18A1, MYOC, IGF1, FLT4, NFKB2, COL4A4, BMP2, HRAS, DRD2, VDR, DVL1, ATXN1, AXIN2, TP53, EGFR, IKBKB, SNCA, PRKCG, ERBB4, ESRRB, ITGA6, KIT, BCR, DYRK1A, NODAL, PTS, PAX3, NR3C1, NR5A1, NTRK1, MPDZ, KMT2D, APPL1, MAP3K1, PLG, DNMT1, ACTN4, IL6, PIK3R1, CRYAB, PCNA, APC, FTH1, SMAD3, HSPG2, ESR1, SERPINE1, PLCB4, DYRK1B, F2, ADCY1, ADRB2, FAS, CDK6, IKBKG, GFI1, MSX1, PLCD1, AGT, GNAI3, CDK5, CDH1, KMT2A, ZEB2, FRZB, FGF17, EGLN1, LIPE, KAT5, LAMB2, FGFR4, PIK3CA, FZD6, COL2A1, RBPJ, GLI2, ARNT2, ACTA1, SMARCA4, HTR1A, CASP8, NOS3, TNF, GATA2, EDA, MET, COL1A2, ITGA2, PER2, PLOD3, PTGER2, MMP13, NFKBIA, CD44, FOXO1, TLR2, TNFRSF1A, SPRY2, TSHR, GSC, TFG, INS, COL7A1, GNB4, ITGB3, RUNX1, PAX2, TJP2, TGFB1, VHL, COL4A1, GRIN2B, BRCA1, ITGB2, PTHLH, FN1, TUBB3, BIN1, ITPR2, FOXC2, IHH, LAMC3, CDK4, RHO, MYC, PTEN, FGFR3, PIK3R5, NRAS, IRS1, FGF14, PRKCD, EPHB2, TLR4, CSF1R, WNT3, TBP, MYH9, FGF10, ITGB4, KITLG, FADD, FGF16, BAX, ATP6AP2, ZHX2, GNAL, APP, EDNRB, IRS2, ACTN2, FLNB, PDGFB, BRCA2, COL1A1, MYD88, MLH1, IRF7, PPARG, AGTR1, OTX2, PRKAR1A, EDN1, CDKN2A, SUFU, BMP4, COL4A2, WNT4, CD40, ERBB2, PTCH1, WNT7A, KRAS, PAX6, NKX2-5, TCF7L2, LRP1, TPM3, PGR, PTCH2, CDKN1B, MECOM, GNB3, IFNG, STAT1, AVPR2, PDGFRA, TGFBR1, EP300, RAD51, CEBPA, MAX, ZBTB16, EYA1, ADCY5, LRP6, PAX8, GNA11, GJA1, ZIC2, COL17A1, TGFB3, CASR, LAMB3, FOXP3, LAMA4, CCND2, MMP2, ELANE, PRKDC, WNT5A, IGF1R, TUBA1A, NUP93, CDKN1C, MUSK, AXIN1, DLX5, RUNX2, SUMF1, CSF3R, FLNA, NGF, COL25A1, ATM, NFKB1, PRKACA, GATA5, INSR, AKT3, MSH2, FGFR2, PLCG2, CTNNA3, RPL11, WNT1, L1CAM, RET, TBX6, FGF20, DCC, FASLG, DNMT3B, NHP2, NR0B2, GCGR, KDR, PORCN, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Viral carcinogenesisYesN0.01077223.8267

PAPILLORENAL SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, HYPERPARATHYROIDISM 1, CAMURATI-ENGELMANN DISEASE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, HYPER-IGE RECURRENT INFECTION SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, ANEMIA, SIDEROBLASTIC, 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HEMOCHROMATOSIS TYPE 1, SHORT SYNDROME, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, IMMUNODEFICIENCY 38, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, GLUCOCORTICOID RESISTANCE, COMPLEMENT FACTOR D DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?IMMUNODEFICIENCY 39, CORNEAL FLECK DYSTROPHY, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPECIFIC GRANULE DEFICIENCY, RETINITIS PIGMENTOSA, DYSTONIA-11, MYOCLONIC, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HYPOPARATHYROIDISM FAMILIAL ISOLATED, CONGENITAL DIAPHRAGMATIC HERNIA, SUPRAVALVAR AORTIC STENOSIS, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ?PROGESTERONE RESISTANCE, MULTIPLE ENDOCRINE NEOPLASIA 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, NOONAN SYNDROME 9, AORTIC VALVE DISEASE 2, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEUKODYSTROPHY, HYPOMYELINATING, 11, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLIOMA SUSCEPTIBILITY 1, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ?FIBROMATOSIS, GINGIVAL, 1, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, HYPERPROINSULINEMIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, C3 DEFICIENCY, SPINOCEREBELLAR ATAXIA 15, ?IMMUNODEFICIENCY 22, LOEYS-DIETZ SYNDROME 3, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ENHANCED S-CONE SYNDROME, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, FAMILIAL COLORECTAL CANCER, SYNDACTYLY, TYPE III, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, KERATOSIS, SEBORRHEIC, SOMATIC, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], BURKITT LYMPHOMA, AMYLOIDOSIS, FINNISH TYPE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, AXENFELD-RIEGER SYNDROME, TYPE 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, EPIDERMAL NEVUS, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, IMMUNODEFICIENCY 36, COFFIN-SIRIS SYNDROME 4, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, {PSORIASIS SUSCEPTIBILITY 1}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, RETINITIS PIGMENTOSA 37, BLEEDING DISORDER, PLATELET-TYPE, 15, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, OCULOECTODERMAL SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY 33, {MELANOMA, CUTANEOUS MALIGNANT, 3}, WHIM SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {MELANOMA, CUTANEOUS MALIGNANT, 2}, COMMON VARIABLE IMMUNODEFICIENCY 1, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ADRENAL CORTICAL CARCINOMA, MACROCEPHALY/AUTISM SYNDROME, CORNELIA DE LANGE SYNDROME 5, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, PERIODIC FEVER, MENSTRUAL CYCLE DEPENDENT, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, SPINOCEREBELLAR ATAXIA 17, WILSON-TURNER SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, PARKINSON DISEASE 4, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, [PREMATURE CHROMATID SEPARATION TRAIT], AORTIC ANEURYSM, FAMILIAL THORACIC 6, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, SMALL CELL CANCER OF THE LUNG, SOMATIC, CEREBELLOFACIODENTAL SYNDROME, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?CATARACT 30, PULVERULENT, PANCREATIC CANCER/MELANOMA SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ANDROGEN INSENSITIVITY, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, 46,XX SEX REVERSAL, TYPE 2, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, IRIDOGONIODYSGENESIS, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LYMPHEDEMA, HEREDITARY, ID, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, TREACHER COLLINS SYNDROME 3, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, DYSTONIA-PARKINSONISM, X-LINKED, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, ?PARKINSONISM WITH SPASTICITY, X-LINKED, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, OSTEOLYSIS, FAMILIAL EXPANSILE, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LYMPHOPROLIFERATIVE SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, DEJERINE-SOTTAS DISEASE, RING DERMOID OF CORNEA, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, XERODERMA PIGMENTOSUM, GROUP D, SMITH-KINGSMORE SYNDROME, TYROSINEMIA, TYPE II, BREAST-OVARIAN CANCER, FAMILIAL 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HEMOCHROMATOSIS, TYPE 2B, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

158

CALM1, MAD1L1, SMN2, VARS2, MYC, SCRIB, FAS, CDK6, IKBKG, ACTN1, RPL5, AGT, IRF7, CDK5, CSNK1D, CEBPE, CDK4, CTNNB1, UBB, PGR, CDKN2A, HSPB1, EGR2, VIM, SMARCA4, NFKBIA, PIK3CA, HTR1A, GFI1B, ERCC2, USP8, DRD2, CREBBP, NR2E3, GNAI2, RBPJ, ERBB4, ACTA1, SOX9, ERBB2, KRAS, ERBB3, CASP8, HAMP, ISG15, NOTCH1, SMARCB1, BUB1B, MTOR, PIK3CD, STAT2, IFNG, BCKDHA, IL10, PRKACG, CCND1, MET, CD27, STAT1, PIKFYVE, IRF8, MEN1, ITPR1, TAF1, HSPD1, T, ACTA2, RB1, TNFRSF11A, HCFC1, STAT3, IRF1, INS, SMC3, PITX2, SOS2, CD44, SMAD6, DDX3X, GJA1, NRAS, GABBR2, EP300, SMAD4, VEGFC, PAX2, CD40LG, HDAC6, CASR, NFKB2, BRCA1, C3, AKT1, CCND2, CNTN2, VCP, ATXN1, PRKCD, TP53, UBE3A, EGFR, ATP5A1, CD40, SPRY2, HLA-G, SNCA, IL1B, HSPA9, EFNB1, PTEN, PIK3R5, GSN, ING1, POLR1C, RUNX2, LCK, TAT, ATP6V1B1, AR, SMAD3, POLR3A, HDAC8, B2M, HNRNPK, TLR4, KNG1, PIK3R2, TGFB1, ATM, JAK3, TBP, BRF1, IRF3, NFKB1, CFD, PRKACA, HLA-B, POMC, SOS1, CXCR4, ACTN4, BAX, ATP6AP2, CDKN1B, PHB, PCNA, APP, HRAS, HLA-C, ACTN2, CALR, POLR3B, NR0B2, NR3C1, TNF, ESR1, HFE, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Transcriptional misregulation in cancerYesN0.03939473.64308

MULLERIAN APLASIA AND HYPERANDROGENISM, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BECKWITH-WIEDEMANN SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CORNEAL DYSTROPHY, LATTICE TYPE I, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, HYPERPARATHYROIDISM 1, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, NICOLAIDES-BARAITSER SYNDROME, HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DYSPLASIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PITUITARY DEPENDENT HYPERCORTISOLISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OPTIC ATROPHY 1, NON-IMMUNE HYDROPS FETALIS, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, BRACHYDACTYLY, TYPE B1, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SPLENIC HYPOPLASIA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, SPECIFIC GRANULE DEFICIENCY, NEUROFIBROMATOSIS-NOONAN SYNDROME, FECHTNER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 23, GILLESPIE SYNDROME, CAMURATI-ENGELMANN DISEASE, SOTOS SYNDROME 1, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, PARIETAL FORAMINA 2, BRACHIOOTIC SYNDROME 3, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, CONGENITAL DIAPHRAGMATIC HERNIA, THROMBOCYTOPENIA 5, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, KLEEFSTRA SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, RENAL ADYSPLASIA, KABUKI SYNDROME 2, PITT-HOPKINS SYNDROME, ACNE INVERSA, FAMILIAL, 3, ALZHEIMER DISEASE, TYPE 4, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, MENTAL RETARDATION, X-LINKED 29 AND OTHERS, NEUROFIBROMATOSIS, FAMILIAL SPINAL, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, MACULAR DYSTROPHY, RETINAL, 2, ADAMS-OLIVER SYNDROME 5, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, CATARACT 21, MULTIPLE TYPES, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, INCONTINENTIA PIGMENTI, FANCONI ANEMIA, COMPLEMENTATION GROUP A, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, DENYS-DRASH SYNDROME, DIGITAL CLUBBING, ISOLATED CONGENITAL, FEINGOLD SYNDROME, PROUD SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, EHLERS-DANLOS SYNDROME, TYPE 3, FOVEAL HYPOPLASIA 1, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, VENTRICULAR SEPTAL DEFECT 3, LOEYS-DIETZ SYNDROME 3, NEUTROPENIA, CYCLIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIA, FAMILIAL COLORECTAL CANCER, MELNICK-FRASER SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, COFFIN-SIRIS SYNDROME 3, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, RHEUMATOID ARTHRITIS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SEBASTIAN SYNDROME, BURKITT LYMPHOMA, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BEHR SYNDROME, TUBEROUS SCLEROSIS 2, MYELOPEROXIDASE DEFICIENCY, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, WAARDENBURG SYNDROME, TYPE 3, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, LI-FRAUMENI SYNDROME, VERHEIJ SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PAPILLORENAL SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, EMBERGER SYNDROME, IMMUNODEFICIENCY 12, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, POLYCYTHEMIA VERA, SOMATIC, OPTIC ATROPHY PLUS SYNDROME, TOOTH AGENESIS, SELECTIVE, 3, DEAFNESS, AUTOSOMAL DOMINANT 56, CLEFT PALATE, PSYCHOMOTOR RETARDATION, AND DISTINCTIVE FACIAL FEATURES, SHPRINTZEN-GOLDBERG SYNDROME, THROMBOCYTHEMIA 3, TREMOR, HEREDITARY ESSENTIAL, 4, ADRENAL CORTICAL CARCINOMA, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, ATAXIA-TELANGIECTASIA, PARTINGTON SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 3}, RUBINSTEIN-TAYBI SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 4, ?WEBB-DATTANI SYNDROME, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, GLUCOCORTICOID RESISTANCE, HYPOSPADIAS 1, X-LINKED, GLIOMA SUSCEPTIBILITY 1, DEAFNESS, AUTOSOMAL RECESSIVE 35, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, WIEDEMANN-STEINER SYNDROME, NEUROFIBROMATOSIS, TYPE 1, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA 1, SMALL CELL CANCER OF THE LUNG, SOMATIC, OPTIC NERVE HYPOPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, XERODERMA PIGMENTOSUM, GROUP B, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, MACROCEPHALY/AUTISM SYNDROME, GENITOPATELLAR SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SERKAL SYNDROME, TANGIER DISEASE, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, KERATITIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, IMMUNODEFICIENCY 33, DEAFNESS, AUTOSOMAL DOMINANT 17, OROFACIAL CLEFT 11, EPSTEIN SYNDROME, MALFORMATION OF THE HEART, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CORNELIA DE LANGE SYNDROME 1, FRONTONASAL DYSPLASIA 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, PLASMA FIBRONECTIN DEFICIENCY, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, CONE-ROD DYSTROPHY 2, COLOBOMA, OCULAR, SPINOCEREBELLAR ATAXIA 17, ?OTOFACIOCERVICAL SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LISSENCEPHALY 3, LOEYS-DIETZ SYNDROME 1, BRANCHIOOTIC SYNDROME 1, NAIL-PATELLA SYNDROME, INFANTILE MYOFIBROMATOSIS 1, AYME-GRIPP SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, CORNEAL DYSTROPHY, GROENOUW TYPE I, KOSAKI OVERGROWTH SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, PITUITARY HORMONE DEFICIENCY, COMBINED, 4, UTERINE LEIOMYOMA, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ?CATARACT 30, PULVERULENT, PANCREATIC CANCER/MELANOMA SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ANDROGEN INSENSITIVITY, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CORNEAL DYSTROPHY, AVELLINO TYPE, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, WATSON SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, NEPHROTIC SYNDROME, TYPE 4, ULNAR-MAMMARY SYNDROME, MENTAL RETARDATION, X-LINKED 58, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), SPLIT-HAND/FOOT MALFORMATION 1, {MELANOMA, CUTANEOUS MALIGNANT, 2}, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HYPOPARATHYROIDISM FAMILIAL ISOLATED, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, QUEBEC PLATELET DISORDER, PICK DISEASE, BREAST-OVARIAN CANCER, FAMILIAL 1, LIPOID ADRENAL HYPERPLASIA, FRASIER SYNDROME, ESSENTIAL HYPERTENSION, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, CHOROID PLEXUS PAPILLOMA, RETINITIS PIGMENTOSA 41, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, FRONTOTEMPORAL DEMENTIA, CARDIOMYOPATHY, DILATED, 1U, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

175

STAR, F2, PAFAH1B1, MYC, SALL1, IKBKG, PSEN1, TBX3, AGT, TGFBI, PPARG, FLT3, OTX2, KDM1A, CEBPE, CDH1, BTK, KMT2A, KDM6A, PLAU, CDKN2A, WT1, VIM, MMP1, SMARCA4, NFKBIA, MPO, NOTCH1, BMP4, PICALM, TGFBR2, PDGFRB, SMAD4, CREBBP, GATA3, GNAI2, PHOX2A, PTEN, ARNT2, SMARCA2, ERBB2, GRIP1, SOX2, ERBB3, COPA, TUBA1A, NKX2-5, CD40, AR, IL12B, NOS3, MYCN, ERCC3, BAX, TNF, GATA2, GPI, MEF2C, MET, CDKN1B, NEUROD1, IL10, KMT2C, CCND1, PTH, PER2, KPTN, JUP, KAT6B, MEN1, EP300, FOXO1, ROR2, FUS, ZBTB16, IFNG, RB1, OPA1, STAT3, DUSP6, ALX4, TNC, PAX8, GATA1, RET, CTNNB1, IGF1, ETV6, PAX2, LMX1B, KLC2, HDAC6, VHL, GRIN2B, CEBPA, BRCA1, FN1, CCND2, MLF1, ELANE, PCSK1, MAX, ASCL1, SIX1, IGF1R, RUNX1, TP53, EPS8, MED17, PAX6, LHX4, AKT1, CSNK1D, MALT1, IL1B, HOXA11, NF1, TLR4, POMC, MAF, APOA1, ESRRB, KAT5, DLX5, TSPAN7, RUNX2, EYA1, KNG1, PAX7, STX16, FZD6, CD40LG, HNRNPK, PAX3, CSF1R, PUF60, TGFB1, HOXC13, ATM, GATA6, TBP, VCP, MYH9, MXI1, NTRK1, NSD1, STAT1, NFKB1, TCF4, MLLT10, SLC2A4, TRIM28, IL6, PAX9, HMGA2, PCNA, APP, ARX, KAT6A, SMARCB1, EGFR, CDK4, WNT4, CALR, PROM1, SMAD3, NR3C1, HSPG2, ESR1, SKI, KDR, JAK2, SERPINE1, NPM1, HPGD

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
T cell receptor signaling pathwayYesN0.0006778135.01146

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MULTIPLE FIBROADENOMAS OF THE BREAST, HYPER-IGE RECURRENT INFECTION SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 20, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?FIBROMATOSIS, GINGIVAL, 1, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SHORT SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, SELECTIVE T-CELL DEFECT, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CARDIOFACIOCUTANEOUS SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, {HASHIMOTO THYROIDITIS}, SUPRAVALVAR AORTIC STENOSIS, ?HYPERPROLACTINEMIA, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RUBINSTEIN-TAYBI SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, 1NN, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, CD8 DEFICIENCY, FAMILIAL, ?IMMUNODEFICIENCY 22, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PREMATURE OVARIAN FAILURE 7, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, NEPHROTIC SYNDROME, TYPE 8, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, IMMUNODEFICIENCY 19, KERATOSIS, SEBORRHEIC, SOMATIC, LONG QT SYNDROME 14, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, IMMUNODEFICIENCY 12, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, ?IMMUNODEFICIENCY 25, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, IMMUNODEFICIENCY 33, {MELANOMA, CUTANEOUS MALIGNANT, 3}, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOSPADIAS 1, X-LINKED, GLIOMA SUSCEPTIBILITY 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, IMMUNODEFICIENCY 15, CLOVE SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, BARAITSER-WINTER SYNDROME 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, LISSENCEPHALY 3, DEAFNESS, AUTOSOMAL DOMINANT 20/26, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, METACHONDROMATOSIS, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ANDROGEN INSENSITIVITY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ESTROGEN RESISTANCE, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, OSTEOLYSIS, FAMILIAL EXPANSILE, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, MENTAL RETARDATION, X-LINKED 30/47, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, SPERMATOGENIC FAILURE 8, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

86

CALM1, CD3D, CD8A, IKBKG, AP2S1, PPARG, CDK4, AKT2, MAP3K8, IL10, PIK3CA, NCF4, HNRNPA1, IRS1, TBK1, ARHGDIA, KRAS, RUNX1, CBL, TUBA1A, CREBBP, AR, IL12B, TNF, MTOR, CD3E, PIK3CD, NFKBIA, ICOS, CCND1, CD247, IFNG, HLA-DRB1, IRF8, PTPN1, RB1, TNFRSF11A, STAT3, PTPRC, INS, MALT1, FASLG, CTNNB1, CD40, PDCD1, CD40LG, NFKB2, FOXP3, AKT1, CARD11, HLA-C, IKBKB, CASP8, RAF1, PIK3R5, LYZ, LCK, NRAS, ITK, PRKCD, TLR4, ACTG1, NR5A1, BCL10, PIK3R2, PTPN11, NFKB1, PRLR, INSR, AKT3, SOS1, CD3G, PIK3R1, PAK3, CTLA4, HRAS, EGFR, ZAP70, NR3C1, CAD, ESR1, SOS2, KDR, JAK2, SERPINE1, MAP2K2

1, 10, 11, 12, 13, 14, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Type II diabetes mellitusYesN0.002849276.1579

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, ?DYSTONIA 23, IMMUNODEFICIENCY 14, PANCREATIC AGENESIS 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, POLYCYTHEMIA VERA, SOMATIC, GLIOMA SUSCEPTIBILITY 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, THROMBOCYTHEMIA 3, PYRUVATE KINASE DEFICIENCY, MODY, TYPE II, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, HYPERPROINSULINEMIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, LI-FRAUMENI SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {LEPROSY, SUSCEPTIBILITY TO}, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, SHORT SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 15, CLOVE SYNDROME, SOMATIC, FANCONI-BICKEL SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, KERATOSIS, SEBORRHEIC, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ESTROGEN RESISTANCE, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME 2, ADRENAL CORTICAL CARCINOMA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], EPISODIC ATAXIA, TYPE 2, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, OPSISMODYSPLASIA, SPINOCEREBELLAR ATAXIA 42, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, SPINOCEREBELLAR ATAXIA 6, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, CHOROID PLEXUS PAPILLOMA, IMMUNODEFICIENCY 36, BRODY MYOPATHY, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

44

KCNJ11, CACNA1G, SLC2A2, PRKCD, GABBR2, LDHA, PIK3R2, BCL10, FOXO1, PKLR, ATP2A1, TNF, CACNA1D, LEP, CACNA1C, INSR, PIK3CA, PIK3CD, MTOR, AKT1, TP53, INPPL1, SLC2A4, IGF1R, JAK2, IKBKB, MYC, EP300, CACNA1B, CACNA1A, ABCC8, IRS2, HK1, IRS1, MAPK8IP1, PCNA, PIK3R5, SELP, ESR1, PDX1, INS, TLR2, GCK, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 20, 22, 3, 4, 5, 6, 7, 8, 90
Non-alcoholic fatty liver disease (NAFLD)YesN2.97861e-054.53188

WOLFF-PARKINSON-WHITE SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPERFERRITINEMIA-CATARACT SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, HEMOCHROMATOSIS TYPE 1, IMMUNODEFICIENCY 15, SHORT SYNDROME, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PARAGANGLIOMAS 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, RENAL TUBULAR DYSGENESIS, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, FRONTOTEMPORAL DEMENTIA, SUPRAVALVAR AORTIC STENOSIS, CARCINOID TUMORS, INTESTINAL, ALZHEIMER DISEASE, TYPE 4, ACNE INVERSA, FAMILIAL, 3, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CARDIOMYOPATHY, HYPERTROPHIC, 3, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, LEPRECHAUNISM, HYPERPROINSULINEMIA, PERIODIC FEVER, FAMILIAL, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, HEMOCHROMATOSIS, TYPE 2B, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, ?OPTIC ATROPHY 9, CATARACT 16, MULTIPLE TYPES, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ADAMS-OLIVER SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, KERATOSIS, SEBORRHEIC, SOMATIC, LONG QT SYNDROME 14, LEBER OPTIC ATROPHY, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, LIMB-MAMMARY SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, HAY-WELLS SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, LI-FRAUMENI SYNDROME, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, PARAGANGLIOMAS 3, BJORNSTAD SYNDROME, ?INFANTILE LIVER FAILURE SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, BANNAYAN-RILEY-RUVALCABA SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, IMMUNODEFICIENCY 14, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LIPOID ADRENAL HYPERPLASIA, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOSPADIAS 1, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, MYOGLOBINURIA, RECURRENT, TUBEROUS SCLEROSIS-1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GLYCOGEN STORAGE DISEASE XI, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, HMG-COA SYNTHASE-2 DEFICIENCY, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, INFANTILE CEREBELLAR-RETINAL DEGENERATION, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, MYOPATHY, MYOFIBRILLAR, 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ANDROGEN INSENSITIVITY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ADULT SYNDROME, THROMBOCYTOPENIA 4, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, METACHONDROMATOSIS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PICK DISEASE, PARAGANGLIOMAS 4, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, LOEYS-DIETZ SYNDROME 2, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, SMALL CELL CANCER OF THE LUNG, SOMATIC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, DILATED, 1U, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

117

CALM1, F2, APPL1, MYC, PRKACA, TPM1, NDUFA11, PIK3CA, PSEN1, FTL, NDUFA1, AGT, PPARG, CDK5, CTNNB1, STK11, AKT2, COX6B1, ITCH, NDUFB11, NDUFS8, MT-CO3, CYCS, COX8A, IGF1, CD40, PRKAG2, UQCRB, MT-ND2, SLC2A4, RBPJ, IRS1, HMGCS2, SDHD, CASP8, FAS, HAMP, AR, PKLR, BAX, TNF, MTOR, SDHC, SDHB, LEP, PIK3CD, ABCA1, CCND1, JAK2, UQCRC2, COX4I2, NDUFS2, FOXO1, NDUFA2, MT-CYB, UQCRQ, NDUFA9, RB1, TP63, NDUFA10, INS, MT-CO1, CEBPA, FASLG, LARS, NDUFB3, GABBR2, NDUFA12, COX6A1, LDHA, NDUFS4, NDUFS7, BCS1L, TNFRSF1A, AKT1, NDUFS1, TP53, EGFR, NDUFS6, IKBKB, MAPK8IP1, SNCA, IL1B, PTEN, PIK3R5, IRS2, DDOST, STAT3, NR2F1, CYC1, NDUFV1, NDUFS3, PIK3R2, TGFB1, SDHA, PTPN11, EIF2AK3, NFKB1, TSC1, MT-CO2, INSR, NOS3, AKT3, NDUFV2, RANBP2, NDUFB9, IL6, STAR, CRYAB, PCNA, FLNC, HRAS, ACO2, COX7B, ESR1, TGFBR2, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 22, 3, 4, 5, 6, 7, 8, 9, MT, X0
Fatty acid degradationYesN0.02103446.3851

?ATRIAL FIBRILLATION 15, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?ACAT2 DEFICIENCY, VLCAD DEFICIENCY, CPT II DEFICIENCY, LETHAL NEONATAL, MYOPATHY DUE TO CPT II DEFICIENCY, MENTAL RETARDATION, X-LINKED 72, ?WAISMAN SYNDROME, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, CPT DEFICIENCY, HEPATIC, TYPE IA, PHYTANIC ACID STORAGE DISEASE, PEROXISOME BIOGENESIS DISORDER 2B, CPT DEFICIENCY, HEPATIC, TYPE II, SHORT SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, GALACTOSE EPIMERASE DEFICIENCY, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ALCOHOL DEPENDENCE, GLUTARICACIDURIA, TYPE I, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, ?FANCONI RENOTUBULAR SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), BURKITT LYMPHOMA, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, MENTAL RETARDATION, X-LINKED 63, ALPHA-METHYLACETOACETIC ACIDURIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, 2-METHYLBUTYRYLGLYCINURIA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, EPILEPSY, PYRIDOXINE-DEPENDENT, LATHOSTEROLOSIS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?SPASTIC PARAPLEGIA 73, AUTOSOMAL DOMINANT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SJOGREN-LARSSON SYNDROME, IMMUNODEFICIENCY 36, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}

36

TUBA8, PEX14, ECHS1, CTNNB1, MYC, CPT2, ACADS, ACAT2, CPT1C, ALDH7A1, SC5D, ALDH2, ACAT1, RAB39B, NUP155, ALDH3A2, HADHA, EHHADH, GALE, HADHB, HADH, CPT1A, ADH1B, PEX19, ADH1C, GCDH, ACSL4, ACADSB, PEX5, ACADM, ACADVL, PEX7, ACOX1, TUFM, CTSD, PIK3R1

1, 10, 11, 12, 16, 17, 19, 2, 22, 3, 4, 5, 6, 8, X0
Insulin signaling pathwayYesN0.02602724.34203

WOLFF-PARKINSON-WHITE SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPER-IGE RECURRENT INFECTION SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, GLYCOGEN STORAGE DISEASE VI, EHLERS-DANLOS SYNDROME, TYPE 3, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ?SECKEL SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, LEOPARD SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, ?PROGESTERONE RESISTANCE, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, TRIGONOCEPHALY 1, AORTIC VALVE DISEASE 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MYXOMA, INTRACARDIAC, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 35, ADAMS-OLIVER SYNDROME 5, HARTSFIELD SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLIOMA SUSCEPTIBILITY 1, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, PEPCK DEFICIENCY, MITOCHONDRIAL, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LEPRECHAUNISM, HYPERPROINSULINEMIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, LOEYS-DIETZ SYNDROME 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PYRUVATE KINASE DEFICIENCY, PEUTZ-JEGHERS SYNDROME, MUSCLE GLYCOGENOSIS, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SHORT SYNDROME, ANGELMAN SYNDROME, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, KERATOSIS, SEBORRHEIC, SOMATIC, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, BURKITT LYMPHOMA, LONG QT SYNDROME 15, BLEEDING DISORDER, PLATELET-TYPE, 11, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, ACETYL-COA CARBOXYLASE DEFICIENCY, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, GLYCOGEN STORAGE DISEASE IXC, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, IMMUNODEFICIENCY 14, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OSTEOGLOPHONIC DYSPLASIA, GRISCELLI SYNDROME, TYPE 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, MODY, TYPE II, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), OCULOECTODERMAL SYNDROME, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, GLYCOGEN STORAGE DISEASE IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, NEPHROTIC SYNDROME, TYPE 1, LI-FRAUMENI SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC 6, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE 0, LIVER, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CARDIOMYOPATHY, DILATED, 1NN, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, IMMUNODEFICIENCY 8, IMMUNODEFICIENCY 15, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {LEPROSY, SUSCEPTIBILITY TO}, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, JACKSON-WEISS SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, MCARDLE DISEASE, PIEBALDISM, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYOPATHY, MYOFIBRILLAR, 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?FIBROMATOSIS, GINGIVAL, 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, NOONAN SYNDROME 7, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MAST CELL DISEASE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE 0, MUSCLE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, THROMBOCYTOPENIA 5, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

118

CALM1, TSC2, MYC, POT1, PRKACA, PIK3CA, GRIN2B, MYO5A, CDK5, PPP1R3A, PRKAR1A, PCK2, G6PC3, STK11, AKT2, LIPE, FBP1, DNM2, G6PC, NOTCH1, IRS1, CREBBP, PRKAG2, PRKACG, SLC2A4, SF3B4, MUSK, ACTA1, PHKB, ERBB2, KRAS, ERBB3, MAP2K2, PHKA2, CD40, PYGL, PKLR, TNF, MTOR, FGFR1, LEP, PIK3CD, CBL, JAK2, PDE3A, TGFBR1, EP300, FOXO1, VCP, SPRY2, PTPN1, GP6, STAT3, DUSP6, TYK2, INS, GCK, SOS2, PLIN1, SMAD6, ITPR1, IGF1, ETV6, CEP63, GYS1, PCK1, PYGM, PPP2R1A, BRCA1, AKT1, AKAP9, ITPR2, ACACA, CFTR, TP53, NPHS1, EGFR, IKBKB, MAPK8IP1, HK1, RAF1, PIK3R5, INPPL1, KIT, TLR2, LCK, NRAS, SMAD3, NGF, PRKCD, HNRNPK, PGR, TUBG1, FLNC, PIK3R2, PHKG2, IGF1R, BCL10, ESR1, NHLRC1, INSR, NOS3, AKT3, SOS1, GYS2, BRAF, NPM1, UBE3A, APP, PHKA1, HRAS, IRS2, ATXN3, MYH11, TSC1, PTPRF, CORO1A, PIK3R1

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Carbon metabolismYesN0.002205815.04123

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?ACAT2 DEFICIENCY, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, FAVISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, HEMOLYTIC ANEMIA DUE TO G6PD DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, TRANSALDOLASE DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CARCINOID TUMORS, INTESTINAL, GLYCOGEN STORAGE DISEASE XII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, NEU-LAXOVA SYNDROME 2, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, METHYLMALONYL-COA EPIMERASE DEFICIENCY, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, OROTIC ACIDURIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLIOMA SUSCEPTIBILITY 1, CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, HYPERPROINSULINEMIA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, PYRUVATE KINASE DEFICIENCY, ?OPTIC ATROPHY 9, NAXOS DISEASE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, NEPHROTIC SYNDROME, TYPE 8, MENTAL RETARDATION, X-LINKED 41, MIRROR MOVEMENTS 2, BURKITT LYMPHOMA, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, ALPHA-METHYLACETOACETIC ACIDURIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, PARAGANGLIOMAS 3, PARAGANGLIOMAS 5, FUMARASE DEFICIENCY, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ARTS SYNDROME, GLYCINE ENCEPHALOPATHY, TRIFUNCTIONAL PROTEIN DEFICIENCY, FRUCTOSE INTOLERANCE, CORTISONE REDUCTASE DEFICIENCY 1, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, LEIOMYOMATOSIS AND RENAL CELL CANCER, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?FANCONI RENOTUBULAR SYNDROME 3, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, GLYCOGEN STORAGE DISEASE VII, NEU-LAXOVA SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, GLYCOGEN STORAGE DISEASE X, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, VON WILLIBRAND DISEASE, TYPE 3, INFANTILE CEREBELLAR-RETINAL DEGENERATION, DEAFNESS, X-LINKED 1, MODY, TYPE II, HYPEROXALURIA, PRIMARY, TYPE 1, MYHRE SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ?CARDIOMYOPATHY, DILATED, 2A, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, PARAGANGLIOMAS 4, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ?GLYCOGEN STORAGE DISEASE XIII, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 7, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

82

TUBA8, CAV3, GPI, DLAT, ALDOA, SDHA, TALDO1, CTNNB1, MTHFR, ALDOB, GDI1, MYC, ALDH6A1, HK1, SMAD4, ACADS, GLDC, PGAM2, ENO3, PDHA1, MCEE, PKLR, G6PD, IDH2, NOS2, EEF2, CAD, DBT, GCK, GPT2, ACAT1, SDHB, SDHC, PCNA, LEP, HIBCH, IDH1, ECHS1, AGXT, PGK1, HADHA, ETFA, TPI1, EHHADH, SDHD, ITPA, VCP, CPS1, MUT, PRPS1, SUCLG1, SHMT1, ATP5A1, FBP1, FH, PFKM, AMT, ACAT2, HSPD1, RPIA, PSAT1, PHGDH, ACO2, ACTN2, GCSH, OGDH, ARHGDIA, GFPT1, PSPH, ACADM, H6PD, CAPN3, SUCLA2, DLD, UMPS, TNNI3, RAD51, INS, PC, JUP, HADHB, VWF

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 22, 3, 5, 6, 7, 8, 9, X0
Insulin secretionYesN0.01108665.09141

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, LONG QT SYNDROME 15, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, PARKINSON DISEASE 1, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, SPINOCEREBELLAR ATAXIA 14, ?PONTOCEREBELLAR HYPOPLASIA, TYPE 3, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SUPRAVALVAR AORTIC STENOSIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, CONE-ROD DYSTROPHY, X-LINKED, 3, AURICULOCONDYLAR SYNDROME 3, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PSEUDOHYPOPARATHYROIDISM IA, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, RENAL CYSTS AND DIABETES SYNDROME, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, MODY, TYPE II, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, ALAND ISLAND EYE DISEASE, RIPPLING MUSCLE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CAPOS SYNDROME, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LOEYS-DIETZ SYNDROME 3, FANCONI-BICKEL SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, OSSEOUS HETEROPLASIA, PROGRESSIVE, LONG QT SYNDROME 14, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, AURICULOCONDYLAR SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, BURKITT LYMPHOMA, DYSTONIA-12, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, DYSTONIA 9, EPIDERMAL NEVUS, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, ?DYSTONIA 23, HYPOMAGNESEMIA 2, RENAL, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, PANCREATIC AGENESIS 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, ATAXIA-TELANGIECTASIA, QUESTION MARK EARS, ISOLATED, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, SPINOCEREBELLAR ATAXIA 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, AURICULOCONDYLAR SYNDROME 1, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPOKALEMIC PERIODIC PARALYSIS 1, HYPERPARATHYROIDISM, NEONATAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?PRUNE BELLY SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, DICARBOXYLIC AMINOACIDURIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPERPROINSULINEMIA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, 46,XX SEX REVERSAL, TYPE 2, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?FIBROMATOSIS, GINGIVAL, 1, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SEGAWA SYNDROME, RECESSIVE, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, SMITH-KINGSMORE SYNDROME, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC

72

CALM1, SNCA, SOX9, KCNJ11, TRPM4, GNA11, KCNMA1, SLC2A2, KCNN4, CAV3, GABBR2, PCLO, ADRB2, ADCY6, MYC, FOXO1, TCF7L2, ATM, ANK2, KCNMB1, SLC2A1, CASR, TNF, ITPR3, RYR1, GCK, PLCB1, CHRM3, PRKACA, CACNA1C, ATXN1, ATP1A2, FOXP3, NOS3, MTOR, AKT1, GNAQ, RYR2, SOS1, CFTR, PTH, CACNA1F, ATP1A3, CACNA1S, INS, HCFC1, HNF1B, APP, CACNA1B, EDN1, HRAS, SLC1A1, GNAS, ACTN2, PRKCG, CACNA1D, ATP1B1, SMAD3, STX11, POMC, TH, HSPG2, FXYD2, ADCY1, ADCY5, PDX1, PRKACG, JAK2, ABCC8, SNAP25, CASK, PLCB4

1, 10, 11, 12, 13, 14, 15, 17, 19, 2, 20, 21, 3, 4, 5, 6, 7, 8, 9, X0
MelanogenesisYesN2.48292e-074.99203

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OTOPALATODIGITAL SYNDROME, TYPE II, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MICROPHTHALMIA WITH COLOBOMA 5, LONG QT SYNDROME 15, FOCAL DERMAL HYPOPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, WAARDENBURG SYNDROME, TYPE 4A, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, OROFACIAL CLEFT 11, ALBINISM, OCULOCUTANEOUS, TYPE IA, SPINOCEREBELLAR ATAXIA 14, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, GILLESPIE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, WAARDENBURG SYNDROME, TYPE 3, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HYPOPARATHYROIDISM FAMILIAL ISOLATED, CONGENITAL DIAPHRAGMATIC HERNIA, SUPRAVALVAR AORTIC STENOSIS, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ALBINISM, OCULOCUTANEOUS, TYPE III, AURICULOCONDYLAR SYNDROME 3, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, AORTIC VALVE DISEASE 2, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PSEUDOPSEUDOHYPOPARATHYROIDISM, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, PSEUDOHYPOPARATHYROIDISM IA, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ATRIOVENTRICULAR SEPTAL DEFECT 3, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CARDIOMYOPATHY, DILATED, 1NN, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, OSTEOGENESIS IMPERFECTA, TYPE IV, OSTEOGENESIS IMPERFECTA, TYPE III, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, HYPERPROINSULINEMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, TOOTH AGENESIS, SELECTIVE, 4, RUBINSTEIN-TAYBI SYNDROME, MACROCEPHALY/AUTISM SYNDROME, HEMOCHROMATOSIS, TYPE 2B, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, PITUITARY DEPENDENT HYPERCORTISOLISM, FOVEAL HYPOPLASIA 1, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, ATRIAL SEPTAL DEFECT 9, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SPLIT-HAND/FOOT MALFORMATION 6, FUHRMANN SYNDROME, SYNDACTYLY, TYPE III, MULLERIAN APLASIA AND HYPERANDROGENISM, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LONG QT SYNDROME 14, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AURICULOCONDYLAR SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 6, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, EXUDATIVE VITREORETINOPATHY 1, EPIDERMAL NEVUS, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SCHOPF-SCHULZ-PASSARGE SYNDROME, SERKAL SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, WAARDENBURG SYNDROME, TYPE 2A, OSTEOGENESIS IMPERFECTA, TYPE I, NON-IMMUNE HYDROPS FETALIS, CULLER-JONES SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, GRISCELLI SYNDROME, TYPE 1, HOLOPROSENCEPHALY-9, OCULOECTODERMAL SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, QUESTION MARK EARS, ISOLATED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, BRACHYDACTYLY, TYPE A2, OPTIC NERVE HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10, (CLAW-SHAPED NAILS), ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, HYPERPARATHYROIDISM, NEONATAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, KERATITIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ODONTOONYCHODERMAL DYSPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, HEMOCHROMATOSIS TYPE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, [SKIN/HAIR/EYE PIGMENTATION 2, BLOND HAIR/FAIR SKIN], [SKIN/HAIR/EYE PIGMENTATION 2, RED HAIR/FAIR SKIN], {UV-INDUCED SKIN DAMAGE}, AURICULOCONDYLAR SYNDROME 1, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, COLOBOMA, OCULAR, ROBINOW SYNDROME, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, PARKINSON DISEASE 4, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SPONDYLOCOSTAL DYSOSTOSIS 5, DYSTONIA-11, MYOCLONIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, WAARDENBURG SYNDROME, TYPE 1, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, PIEBALDISM, IRIDOGONIODYSGENESIS, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, ABCD SYNDROME, LEUKEMIA, CHRONIC MYELOID, SOMATIC, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, OSTEOGENESIS IMPERFECTA, TYPE XV, TIETZ ALBINISM-DEAFNESS SYNDROME, MAST CELL DISEASE, LADD SYNDROME, 46,XX SEX REVERSAL, TYPE 2, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, NEUROCUTANEOUS MELANOSIS, SOMATIC, RING DERMOID OF CORNEA, ALBINISM, BROWN OCULOCUTANEOUS, {ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF}, ALBINISM, OCULOCUTANEOUS, TYPE II, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, NEPHROTIC SYNDROME, TYPE 6, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, HETEROTOPIA, PERIVENTRICULAR, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, BRACHYDACTYLY, TYPE B1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

89

CALM1, MPDZ, MITF, WNT5A, MYC, KITLG, GNAS, TBX19, COL1A2, MYO5A, GNAI3, OTX2, PTPRO, EDN1, GJA1, BMP4, WNT4, CREBBP, GNAI2, GLI2, WNT7A, KRAS, MAP2K2, POMC, DRD2, WNT10B, TCF7L2, ADCY1, EDA, FZD4, PRKACG, CCND1, EP300, GDNF, RUNX2, ROR2, GSC, ADCY5, INS, TYRP1, MC1R, APP, TYR, CTNNB1, SOX9, SMAD4, DVL3, CASR, PITX2, BMP2, EDNRB, FZD6, AKT1, GNAQ, DVL1, RAF1, PAX6, CDH1, SNCA, PRKCG, PTEN, ITPR3, MUSK, HAMP, KIT, BCR, NRAS, FLNA, NGF, GNAO1, PAX3, WNT3, GATA6, FGF10, PLCB1, PRKACA, GATA5, WNT10A, WNT1, SMAD6, TBX6, HRAS, SMAD3, ADCY6, ESR1, PLCB4, KDR, PORCN, SHH

1, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0
Cardiac muscle contractionYesN0.007933735.9579

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPOMAGNESEMIA 2, RENAL, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, EPISODIC ATAXIA, TYPE 5, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?LICHTENSTEIN-KNORR SYNDROME, THROMBOCYTOPENIA 4, CARDIOMYOPATHY, HYPERTROPHIC, 11, TIMOTHY SYNDROME, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ATRIAL SEPTAL DEFECT 5, DILATED CARDIOMYOPATHY 1DD, ALAND ISLAND EYE DISEASE, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, CAPOS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, LONG QT SYNDROME 15, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, CONE-ROD DYSTROPHY, X-LINKED, 3, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, SPINOCEREBELLAR ATAXIA 15, CARDIOMYOPATHY, HYPERTROPHIC, 2, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, ?CARDIOMYOPATHY, DILATED, 2A, ESSENTIAL HYPERTENSION, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE D, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, LONG QT SYNDROME 14, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, BRODY MYOPATHY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, RETINAL CONE DYSTROPHY 4, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ALTERNATING HEMIPLEGIA OF CHILDHOOD, HYPOKALEMIC PERIODIC PARALYSIS 1, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, DYSTONIA-12, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, DARIER DISEASE, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MALFORMATION OF THE HEART, MYOGLOBINURIA, RECURRENT, LIANG DISTAL MYOPATHY, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, LEBER OPTIC ATROPHY, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ACROKERATOSIS VERRUCIFORMIS, CARDIOMYOPATHY, HYPERTROPHIC, 3, CARDIOMYOPATHY, HYPERTROPHIC, 7, PROTEUS SYNDROME, SOMATIC

45

CALM1, COX7B, CACNA2D4, SLC9A1, MT-CO2, TPM1, ATP1B1, CYCS, ATP2A1, TPM3, TNNI3, SLC9A6, CACNA1C, ATP1A2, MYL3, AKT1, CACNA1F, UQCRB, MYH7, COX6B1, TPM2, CACNB2, CACNA1S, UQCRC2, COX4I2, GRIN2B, ATP1A3, ITPR1, ACTN2, MT-CO3, MT-CYB, UQCRQ, CACNB4, CACNA1D, TNNT2, CYB5R3, ACTC1, ATP2A2, CYC1, FXYD2, RYR2, MYH6, COX6A1, COX8A, MT-CO1

1, 10, 11, 12, 14, 15, 16, 19, 2, 20, 22, 3, 5, 7, 8, 9, MT, X0
Adrenergic signaling in cardiomyocytesYesN1.96136e-064.33237

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, LONG QT SYNDROME 12, ?LICHTENSTEIN-KNORR SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, JERVELL AND LANGE-NIELSEN SYNDROME 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, NIGHT BLINDNESS, CONGENITAL STATIONARY (INCOMPLETE), 2A, X-LINKED, SHORT SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, GLUCOCORTICOID RESISTANCE, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, CONGENITAL DIAPHRAGMATIC HERNIA, SUPRAVALVAR AORTIC STENOSIS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, AURICULOCONDYLAR SYNDROME 3, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, AORTIC VALVE DISEASE 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DEAFNESS, AUTOSOMAL RECESSIVE 68, CARDIOMYOPATHY, DILATED, 1E, PSEUDOHYPOPARATHYROIDISM IA, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, RENAL CYSTS AND DIABETES SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, CARDIOMYOPATHY, HYPERTROPHIC, 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATRIAL SEPTAL DEFECT 5, ATRIAL FIBRILLATION, FAMILIAL, 3, BRUGADA SYNDROME 1, ATAXIA-TELANGIECTASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, FAMILIAL ABDOMINAL AORTIC ANEURYSM 1, ATRIAL FIBRILLATION, FAMILIAL, 7, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, ATRIAL FIBRILLATION, FAMILIAL, 13, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CARDIOMYOPATHY, DILATED, 3B, ALAND ISLAND EYE DISEASE, RIPPLING MUSCLE DISEASE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, CAPOS SYNDROME, ESSENTIAL HYPERTENSION, CARDIOMYOPATHY, HYPERTROPHIC, 18, AORTIC ANEURYSM, FAMILIAL THORACIC 8, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, HARTSFIELD SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, PRIMARY PULMONARY HYPERTENSION, FAMILIAL COLORECTAL CANCER, SICK SINUS SYNDROME 1, KERATOSIS, SEBORRHEIC, SOMATIC, PSEUDOHYPOALDOSTERONISM, TYPE I, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, AURICULOCONDYLAR SYNDROME 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ALTERNATING HEMIPLEGIA OF CHILDHOOD, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, MYOPATHY, MYOFIBRILLAR, 1, BURKITT LYMPHOMA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OPSISMODYSPLASIA, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, LEOPARD SYNDROME 1, JACKSON-WEISS SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HYPOMAGNESEMIA 2, RENAL, CONE-ROD DYSTROPHY, X-LINKED, 3, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OSTEOGLOPHONIC DYSPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, SHORT QT SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, TIMOTHY SYNDROME, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, LONG QT SYNDROME 5, OCULOECTODERMAL SYNDROME, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, DYSTONIA-12, BRACHYDACTYLY, TYPE E2, CORPUS CALLOSUM, PARTIAL AGENESIS OF, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, LIANG DISTAL MYOPATHY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, THYROTROPIN-RELEASING HORMONE DEFICIENCY, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 2, BECKER MUSCULAR DYSTROPHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, DARIER DISEASE, NOONAN SYNDROME 9, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, AURICULOCONDYLAR SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 11, {DEAFNESS, AUTOSOMAL RECESSIVE 12, MODIFIER OF}, DEAFNESS, AUTOSOMAL RECESSIVE 12, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?PRECOCIOUS PUBERTY, CENTRAL, 1, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, CARDIOMYOPATHY, HYPERTROPHIC, 11, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DILATED CARDIOMYOPATHY 1DD, HOLOPROSENCEPHALY 11, LIDDLE SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, METACHONDROMATOSIS, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, DIABETES INSIPIDUS, NEPHROGENIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?FIBROMATOSIS, GINGIVAL, 1, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?CARDIOMYOPATHY, DILATED, 2A, THROMBOCYTOPENIA 4, LONG QT SYNDROME 14, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, SPINOCEREBELLAR ATAXIA 12, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, ?SPINOCEREBELLAR ATAXIA, X-LINKED 1, AORTIC ANEURYSM, FAMILIAL THORACIC 7, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, EPISODIC ATAXIA, TYPE 5, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, JERVELL AND LANGE-NIELSEN SYNDROME 2, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, RETINAL CONE DYSTROPHY 4, LONG QT SYNDROME-3, ATAXIA-OCULOMOTOR APRAXIA 3, MASA SYNDROME, CRASH SYNDROME, BRODY MYOPATHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ATRIAL FIBRILLATION, FAMILIAL, 10, SMITH-KINGSMORE SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 7, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ACROKERATOSIS VERRUCIFORMIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

129

CALM1, KCNA5, PDE4D, CACNA2D4, FGFR1, MYC, TPM1, GNAS, CYCS, ANK2, F2, GRIN2B, GNAI3, AGTR1, PPP1R3A, PTHLH, EDN1, KCNH2, RYR2, HNRNPK, MYH7, AKT2, IL1B, ADRB2, DES, PIK3CA, SCN8A, MYL3, S1PR2, CACNB4, CACNA1D, IRS1, ACTC1, NGF, GNAI2, PPP2R1B, SCN1B, KRAS, SCNN1G, ADCY6, ATP1B1, NOS3, ATP2A1, CABP4, ATP2B3, RYR1, ADCY1, ATP1A2, PIK3CD, KCNE1, PRKACG, PTH, CACNA1F, TPM2, CACNB2, GP6, CNTN5, PRKG1, CACNA1S, TNNT2, RB1, FXYD2, ADCY5, CDON, DMD, SOS2, PLIN1, CAV3, SMAD6, CTNNB1, GABBR2, ITPR1, IGF1, CDK5, MYLK, SYN1, SNTA1, PPP2R1A, HNF1B, MTOR, AKT1, SCN4B, KCNMA1, INPPL1, CFTR, ATXN1, ATP1A3, NOS2, KISS1R, ATP2B2, AKAP9, AQP2, PIK3R5, PPP2R2B, PLN, MYH6, SLC9A3R1, GNAQ, KCNQ1, SLC9A1, EP300, PPP2R5D, NR3C1, PIK3R2, PTPN11, ATM, PLCB1, STAT3, PRKACA, CACNA1C, POMC, AKT3, SOS1, SCN5A, L1CAM, HCFC1, TRH, APP, MEF2A, HRAS, EGFR, ACTN2, SMAD3, ATP2A2, NEB, TNNI3, PIK3R1, TPM3, PLCB4

1, 10, 11, 12, 13, 14, 15, 16, 17, 19, 2, 20, 21, 22, 3, 4, 5, 6, 7, 8, 9, X0