MISCELLANEOUS

CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, EPISODIC ATAXIA, TYPE 5, HYPER-IGE RECURRENT INFECTION SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 20, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, LONG QT SYNDROME 13, 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, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA 14, ?SPINOCEREBELLAR ATAXIA 26, DYSTONIA-11, MYOCLONIC, 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, FRONTOTEMPORAL DEMENTIA, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, ALZHEIMER DISEASE, TYPE 4, 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, PSEUDOHYPOPARATHYROIDISM IA, IMMUNODEFICIENCY 36, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, ATAXIA-TELANGIECTASIA, CARDIOMYOPATHY, HYPERTROPHIC 6, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MOYAMOYA 6 WITH ACHALASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, ESSENTIAL HYPERTENSION, 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, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SHORT SYNDROME, ?SPINOCEREBELLAR ATAXIA 41, GLIOMA SUSCEPTIBILITY 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, AURICULOCONDYLAR SYNDROME 2, ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, BURKITT LYMPHOMA, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, OSSEOUS HETEROPLASIA, PROGRESSIVE, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, KEPPEN-LUBINSKY SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?DYSTONIA 23, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, FUMARASE DEFICIENCY, TIMOTHY SYNDROME, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, OCULOECTODERMAL SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARDIOMYOPATHY, DILATED, 1NN, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, 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, {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, 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}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, ATRIAL STANDSTILL 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 11, 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, LISSENCEPHALY 3, LOEYS-DIETZ SYNDROME 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, DEAFNESS, AUTOSOMAL DOMINANT 20/26, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, 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}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPERALDOSTERONISM, FAMILIAL, TYPE III, ?BLEEDING DISORDER, PLATELET-TYPE, 19, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LONG QT SYNDROME 14, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MENTAL RETARDATION, X-LINKED 90, PICK DISEASE, PARKINSON DISEASE, JUVENILE, TYPE 2, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ATRIAL FIBRILLATION, FAMILIAL, 6, DIAMOND-BLACKFAN ANEMIA 1, 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

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

MULLERIAN APLASIA AND HYPERANDROGENISM, ?LICHTENSTEIN-KNORR SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, LONG QT SYNDROME 15, MYOTONIC DYSTROPHY 1, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, SPINOCEREBELLAR ATAXIA 14, CARDIOFACIOCUTANEOUS SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, AORTIC VALVE DISEASE 2, 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, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SECKEL SYNDROME 1, SPLENIC HYPOPLASIA, CAPOS SYNDROME, ESSENTIAL HYPERTENSION, AORTIC ANEURYSM, FAMILIAL THORACIC 8, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, EHLERS-DANLOS SYNDROME, TYPE 3, PARKINSON DISEASE 1, 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, 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, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, DYSTONIA 9, TUBEROUS SCLEROSIS 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, IMMUNODEFICIENCY 36, SERKAL SYNDROME, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, CHOREA, HEREDITARY BENIGN, OCULOECTODERMAL SYNDROME, ATAXIA-TELANGIECTASIA, DYSTONIA-12, RUBINSTEIN-TAYBI SYNDROME 2, ?DYSTONIA, JUVENILE-ONSET, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOSPADIAS 1, X-LINKED, GLIOMA SUSCEPTIBILITY 1, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, AURICULOCONDYLAR SYNDROME 1, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, CLOVE SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, BREAST-OVARIAN CANCER, FAMILIAL 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, ?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}, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, DARIER DISEASE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ALAGILLE SYNDROME 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, SPINOCEREBELLAR ATAXIA 17, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PARKINSON DISEASE 4, INFANTILE MYOFIBROMATOSIS 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, 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}, 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, ANDROGEN INSENSITIVITY, LUJAN-FRYNS SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ALLAN-HERNDON-DUDLEY SYNDROME, UTERINE LEIOMYOMA, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, PALLISTER-HALL SYNDROME, NEPHROTIC SYNDROME, TYPE 3, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, AU-KLINE SYNDROME, ACROKERATOSIS VERRUCIFORMIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

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

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CAMURATI-ENGELMANN DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, HYPER-IGE RECURRENT INFECTION SYNDROME, PSEUDOACHONDROPLASIA, AORTIC ANEURYSM, FAMILIAL THORACIC 4, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, CZECH DYSPLASIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {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, ATELOSTEOGENESIS, TYPE I, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, 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, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPIDERMOLYSIS BULLOSA PRURIGINOSA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SPINOCEREBELLAR ATAXIA 14, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, GILLESPIE SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, AMELOGENESIS IMPERFECTA, TYPE IA, MIYOSHI MUSCULAR DYSTROPHY 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, FRONTOMETAPHYSEAL DYSPLASIA, ?RETINAL ARTERIES, TORTUOSITY OF, LOEYS-DIETZ SYNDROME 2, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, CORNEAL DYSTROPHY, CONGENITAL STROMAL, ?REYNOLDS SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?STEEL SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?BARDET-BIEDL SYNDROME 11, RENAL TUBULAR DYSGENESIS, KNOBLOCH SYNDROME 1, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ADAMS-OLIVER SYNDROME 5, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, PIERSON SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, CARDIOMYOPATHY, DILATED, 1NN, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, 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, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LARSEN SYNDROME, OPITZ GBBB SYNDROME, TYPE I, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, PARKINSON DISEASE 1, NEPHROTIC SYNDROME, TYPE 8, 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, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 15, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, EPIDERMOLYSIS BULLOSA, PRETIBIAL, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, BURKITT LYMPHOMA, LONG QT SYNDROME 15, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, BETHLEM MYOPATHY 1, DEAFNESS, AUTOSOMAL DOMINANT 13, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 5, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, IMMUNODEFICIENCY 36, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, PELGER-HUET ANOMALY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 56, ?DEAFNESS, X-LINKED 6, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, CLEFT PALATE, ISOLATED, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, INFANTILE MYOFIBROMATOSIS 1, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ?MYOSCLEROSIS, CONGENITAL, GLIOMA SUSCEPTIBILITY 1, VISCERAL MYOPATHY, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, DEAFNESS, AUTOSOMAL RECESSIVE 53, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, WAARDENBURG SYNDROME, TYPE 2D, BECKER MUSCULAR DYSTROPHY, 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}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, HEMOCHROMATOSIS TYPE 1, ATAXIA-OCULOMOTOR APRAXIA 3, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, PCWH SYNDROME, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WAGNER SYNDROME 1, DEAFNESS, AUTOSOMAL DOMINANT 20/26, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYOPATHY, DISTAL, TATEYAMA TYPE, KOSAKI OVERGROWTH SYNDROME, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, EPITHELIAL RECURRENT EROSION DYSTROPHY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, RIPPLING MUSCLE DISEASE, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {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, LYMPHEDEMA, HEREDITARY, ID, CORTICAL MALFORMATIONS, OCCIPITAL, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, HETEROTOPIA, PERIVENTRICULAR, PORENCEPHALY 2, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, RENAL ADYSPLASIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE XVII, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, 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}, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, VESICOURETERAL REFLUX 8, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STICKLER SYNDROME, TYPE III, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, X-LINKED 30/47, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, 46,XX SEX REVERSAL, TYPE 2, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, METHYLMALONIC ACIDURIA, MUT(0) TYPE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, THROMBOCYTOPENIA 5, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, AORTIC ANEURYSM, FAMILIAL THORACIC 8, PROTEUS SYNDROME, SOMATIC, SMITH-KINGSMORE SYNDROME, MARSHALL SYNDROME

CALM1, COL10A1, CAV1, CDK5, MYC, MID1, ACTB, LBR, COL3A1, LAMB1, AGT, A2M, COL11A2, COL5A1, SPARC, CDH1, GJA1, SOX10, F2, PLG, ITGA3, COL4A5, SPTAN1, LAMB2, ADRB2, TRIM32, VEGFC, PIK3CA, TGFBI, VCAN, SNAI2, ARHGDIA, TNXB, CD40, COL2A1, CTNNB1, RAF1, ITGA2, ACE, RASA1, ERBB2, ACAN, MYOC, PAX6, 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, SPRY2, TNNT2, STAT3, BRAF, INS, TNC, LAMB3, COL7A1, CD44, CAV3, FLNC, ITGB3, ITGA8, SOX9, DYSF, IGF1, COL4A4, VWF, PRKG1, COL17A1, MYLK, PDGFRB, LAMA3, DMD, VHL, COL4A1, GRIN2B, BMP2, HRAS, FN1, CCND2, MMP2, PRKDC, IGF1R, MUT, DIAPH1, RB1CC1, COL27A1, ACTN2, LAMC3, AKT1, SNCA, IL1B, PRKCG, EFNB1, PTEN, MUSK, PIK3R5, ITGA6, COL6A3, PFKM, FLNA, MYH11, BIN1, PRKCD, COL25A1, TUBG1, ACTG1, LAMC2, LAMA2, TGFB1, COL5A2, CXCR4, SOS2, THBS4, ITGA2B, COL11A1, ITGB4, NEB, VPS11, SERPINE1, INSR, NOTCH1, AKT3, PDGFB, SERPINH1, TP53, ACTN4, COL4A3, DCN, PAK3, PIP5K1C, COL4A2, APP, CD36, ACTN1, FLNB, EDNRB, ETV6, EGFR, ITGA7, LRP1, CALR, HTRA1, HSPG2, ESR1, TGFBR2, PIK3R1, KDR, MTRR, SHH

IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANEMIA, SIDEROBLASTIC, 4, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, RETINITIS PIGMENTOSA 11, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), POPLITEAL PTERYGIUM SYNDROME 1, 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, ?IMMUNODEFICIENCY 39, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, BLAU SYNDROME, MYOTUBULAR MYOPATHY, X-LINKED, DYSTONIA-11, MYOCLONIC, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 3, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LOEYS-DIETZ SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, CARDIOMYOPATHY, DILATED, 1NN, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, OCULOECTODERMAL SYNDROME, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, SINGLETON-MERTEN SYNDROME 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, 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, DIAMOND-BLACKFAN ANEMIA 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, LIMB-MAMMARY SYNDROME, TUBEROUS SCLEROSIS 2, BURKITT LYMPHOMA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HAY-WELLS SYNDROME, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, KAPPA LIGHT CHAIN DEFICIENCY, EVEN-PLUS SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, THROMBOCYTHEMIA 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, LI-FRAUMENI SYNDROME, SPINOCEREBELLAR ATAXIA 1, {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, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, WIEDEMANN-STEINER SYNDROME, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, {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}, DEAFNESS, AUTOSOMAL RECESSIVE 70, SPLIT-HAND/FOOT MALFORMATION 4, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, SPINOCEREBELLAR ATAXIA 17, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, LISSENCEPHALY 3, LOEYS-DIETZ SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, SINGLETON-MERTEN SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, ?SPERMATOGENIC FAILURE 13, WOLCOTT-RALLISON SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ERYTHROCYTOSIS, FAMILIAL, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, PROPERDIN DEFICIENCY, X-LINKED, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, C3 DEFICIENCY, {OROFACIAL CLEFT 6}, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, ?CARDIOMYOPATHY, DILATED, 2A, PAGET DISEASE OF BONE 3, ADULT SYNDROME, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, THROMBOCYTOPENIA 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}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, SENIOR-LOKEN SYNDROME 9, RUBINSTEIN-TAYBI SYNDROME 2, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, {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], LEOPARD SYNDROME 1, THROMBOCYTOPENIA 5, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 7, PULMONARY VENOOCCLUSIVE DISEASE 2, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CAV1, KMT2A, MYC, IFIH1, FAS, SQSTM1, IKBKG, RPL5, IRF7, PPARG, TAF6, CDK5, CDH1, TRAF3IP1, TAF4B, B2M, CASP8, PRPF31, DNM2, NFKBIA, CYCS, GFI1B, TGFBR2, CREBBP, HLA-DQA1, NONO, ACTA1, KRAS, TUBA1A, EGFR, TBK1, STUB1, IFNAR2, IL12B, C5, TNF, MTOR, HLA-DRB1, TNNI3, CFP, LEP, HNRNPK, PER2, CCND1, MET, IFNG, TAP1, IRF8, CD44, EP300, C3, HSPD1, TNFRSF1A, SPRY2, SYN1, HCFC1, TP63, TYK2, INS, IFNGR1, IGKC, FASLG, TAB2, CALR, AGL, GJA1, ETV6, PPM1D, CD40, STAT1, CASR, CFB, VHL, AKT1, EIF2AK4, DRD2, TRAC, DDX58, ATXN1, TP53, HLA-DQB1, IKBKB, DCTN1, NOS2, IL1B, HSPA9, RAF1, POMC, NOD2, STAT2, PNPT1, STAT3, TLR2, USH2A, PER3, IFNGR2, SMARCB1, PRKCD, CHEK2, TGFB1, PTPN11, CXCR4, TBP, EIF2AK3, BCL10, IRF3, NFKB1, CR2, HLA-B, ATM, IL6, STX11, APP, HLA-C, IRF6, ESR1, TAP2, JAK2, SERPINE1

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, ANEMIA, SIDEROBLASTIC, 4, AMYOTROPHIC LATERAL SCLEROSIS 20, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, MACULAR DYSTROPHY, PATTERNED, 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OSTEOLYSIS, FAMILIAL EXPANSILE, SHORT SYNDROME, 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, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, MYOTUBULAR MYOPATHY, X-LINKED, SPINOCEREBELLAR ATAXIA 1, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, AGAMMAGLOBULINEMIA, X-LINKED 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, AORTIC VALVE DISEASE 2, IMMUNODEFICIENCY 43, 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 22, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 4, RETINITIS PIGMENTOSA 13, INFLAMMATORY BOWEL DISEASE 28, EARLY ONSET, AUTOSOMAL RECESSIVE, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, TATTON-BROWN-RAHMAN SYNDROME, CEREBROOCULOFACIOSKELETAL SYNDROME 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PERRY SYNDROME, SPINOCEREBELLAR ATAXIA 15, 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, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CRANIOFRONTONASAL DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, RUBINSTEIN-TAYBI SYNDROME, 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, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, LONG QT SYNDROME 14, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, INFLAMMATORY BOWEL DISEASE 25, EARLY ONSET, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, IMMUNODEFICIENCY 36, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, EVEN-PLUS SYNDROME, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, THROMBOCYTHEMIA 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, LEUKODYSTROPHY, HYPOMYELINATING, 11, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, IMMUNODEFICIENCY 33, WHIM SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, COMMON VARIABLE IMMUNODEFICIENCY 1, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 14, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, 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}, HYPOSPADIAS 1, X-LINKED, GLIOMA SUSCEPTIBILITY 1, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, IMMUNODEFICIENCY, COMMON VARIABLE, 7, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, {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, 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}, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, ALAGILLE SYNDROME 2, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ENCEPHALOPATHY, NEONATAL SEVERE, SPINOCEREBELLAR ATAXIA 17, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, INFANTILE MYOFIBROMATOSIS 1, MYOPATHY, MYOFIBRILLAR, 6, AGAMMAGLOBULINEMIA 4, CEREBELLOFACIODENTAL SYNDROME, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, 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}, LYMPHOPROLIFERATIVE SYNDROME 2, DIABETES INSIPIDUS, NEPHROGENIC, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, ANDROGEN INSENSITIVITY, RUBINSTEIN-TAYBI SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, XERODERMA PIGMENTOSUM, GROUP D, AU-KLINE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PULMONARY VENOOCCLUSIVE DISEASE 2, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, GATA1, CTNNA1, MSH6, PRPF8, MYC, IKBKG, RPL5, IRF7, PPARG, TARDBP, BTK, B2M, IL10RA, HSPB1, RAB7A, PHF8, DNM2, NFKBIA, PIK3CA, AR, ERCC2, HNRNPA1, PDGFRB, TBK1, PRKACG, RBPJ, AQP2, RASA1, MMP2, CASP8, EGFR, CREBBP, NME1, NOTCH2, TNF, CIITA, MTOR, SCARB2, PIK3CD, IFNG, CBL, HLA-DQA1, CCND1, CD27, STAT1, TGFBR1, ITPR1, GLUD1, ERCC5, EFTUD2, SPRY2, RB1, TNFRSF11A, STAT3, VCP, TYK2, SOS2, PLIN1, TAB2, POLR1C, AGL, CTNNB1, BLNK, EP300, CD40, MECP2, HLA-DRB1, SYN1, HSPD1, NFKB2, IL10RB, HRAS, AKT1, EIF2AK4, KCNMA1, TRAC, PRKDC, CFTR, ATXN1, TP53, HLA-C, IKBKB, DCTN1, NOS2, HSPA9, EFNB1, PTEN, PIK3R5, ITGA6, TLR2, LCK, ISG15, POLR3A, HNRNPK, CSF1R, NGF, ENTPD1, CXCR4, TNFAIP3, TBP, DDX58, BRF1, IRF3, NFKB1, ESR1, PRKACA, CD44, CD19, HLA-B, NOS3, AKT3, PTPRC, PLCG2, DNMT3A, IL6, CDKN1B, CLASP1, SMAD6, POLR2F, HLA-DQB1, EIF2AK3, SELE, CALR, POLR3B, BAG3, CR2, JAK2, PIK3R1

CORNEAL DYSTROPHY, LATTICE TYPE I, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, 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, 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, SHORT SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, 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, ?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, 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}, 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, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, ALZHEIMER DISEASE, TYPE 4, ACNE INVERSA, FAMILIAL, 3, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, {PARKINSON DISEASE 18}, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {GLIOMA SUSCEPTIBILITY 9}, IMMUNODEFICIENCY 43, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, LEUKODYSTROPHY, HYPOMYELINATING, 4, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, {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, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, SINGLETON-MERTEN SYNDROME 1, CINCA SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, NEPHROTIC SYNDROME, TYPE 8, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, 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, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SEBASTIAN SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, LONG QT SYNDROME 15, MYOPATHY, MYOFIBRILLAR, 5, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, 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, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OSTEOGLOPHONIC DYSPLASIA, LYMPHEDEMA, HEREDITARY, IA, THROMBOCYTHEMIA 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOSPADIAS 1, X-LINKED, CARDIOMYOPATHY, DILATED, 1NN, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, SPINOCEREBELLAR ATAXIA 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ESTROGEN RESISTANCE, {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, 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, 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, TUBEROUS SCLEROSIS 2, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SINGLETON-MERTEN SYNDROME 2, 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, LONG QT SYNDROME 14, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, DEAFNESS, AUTOSOMAL DOMINANT 20/26, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, KOSAKI OVERGROWTH SYNDROME, BLOOM SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, 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}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ANDROGEN INSENSITIVITY, CORNEAL DYSTROPHY, AVELLINO TYPE, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ?CARDIOMYOPATHY, DILATED, 2A, PAGET DISEASE OF BONE 3, 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, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, QUEBEC PLATELET DISORDER, PICK DISEASE, RUBINSTEIN-TAYBI SYNDROME 2, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, PULMONARY VENOOCCLUSIVE DISEASE 2, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, NEPHROTIC SYNDROME, TYPE 6, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, IMMUNODEFICIENCY, COMMON VARIABLE, 12, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, AU-KLINE SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 7, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LEOPARD SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

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

MULLERIAN APLASIA AND HYPERANDROGENISM, CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, AMYOTROPHIC LATERAL SCLEROSIS 20, OTOPALATODIGITAL SYNDROME, TYPE II, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, 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, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS, ATAXIA-TELANGIECTASIA-LIKE DISORDER, ADAMS-OLIVER SYNDROME 5, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, 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, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, ANGELMAN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, KAPPA LIGHT CHAIN DEFICIENCY, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ?TETRA-AMELIA SYNDROME, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HAY-WELLS SYNDROME, BRACHYDACTYLY, TYPE A1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, CULLER-JONES SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, 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, {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, 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, EXUDATIVE VITREORETINOPATHY 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CRANIOSYNOSTOSIS, TYPE 2, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, 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, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, DYSAUTONOMIA, FAMILIAL, OSTEOLYSIS, FAMILIAL EXPANSILE, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {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, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, FOCAL DERMAL HYPOPLASIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMPLEMENT FACTOR D DEFICIENCY, MELNICK-NEEDLES SYNDROME, GLANZMANN THROMBASTHENIA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PSEUDOHYPOPARATHYROIDISM IA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, 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, CHOREA, HEREDITARY BENIGN, 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, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 4, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, 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, 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, RABSON-MENDENHALL SYNDROME, 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, {MELANOMA, CUTANEOUS MALIGNANT, 3}, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, 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}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PULMONARY HYPERTENSION, PRIMARY, 3, ?IMMUNODEFICIENCY 22, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 5, AORTIC ANEURYSM, FAMILIAL THORACIC 6, DEAFNESS, AUTOSOMAL DOMINANT 20/26, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, 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}, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, LYMPHEDEMA, HEREDITARY, ID, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, ADULT SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, NEUROCUTANEOUS MELANOSIS, SOMATIC, 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, IMMUNODEFICIENCY 15, CAMURATI-ENGELMANN DISEASE, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, 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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 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, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, WAARDENBURG SYNDROME, TYPE 3, DEJERINE-SOTTAS DISEASE, 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, AORTIC VALVE DISEASE 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, SPLIT-HAND/FOOT MALFORMATION 6, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, RETINITIS PIGMENTOSA 38, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DIAMOND-BLACKFAN ANEMIA 6, FRONTOMETAPHYSEAL DYSPLASIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FILS SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, {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}, LIMB-MAMMARY SYNDROME, 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, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, SERKAL SYNDROME, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, BURKITT LYMPHOMA, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, OCULOECTODERMAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, [PREMATURE CHROMATID SEPARATION TRAIT], KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CORNEAL DYSTROPHY, AVELLINO TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, BRACHYDACTYLY, TYPE B1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CZECH DYSPLASIA, IMMUNODEFICIENCY 21, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, PSEUDOHYPOPARATHYROIDISM IC, LEUKODYSTROPHY, HYPOMYELINATING, 4, GLIOMA SUSCEPTIBILITY 1, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ?PARKINSONISM WITH SPASTICITY, X-LINKED, 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, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYOPATHY, DISTAL, TATEYAMA TYPE, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, THROMBOCYTHEMIA 3, HOLOPROSENCEPHALY-9, 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, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, SED CONGENITA, KNIEST DYSPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, {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, 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, LISSENCEPHALY 3, INFANTILE MYOFIBROMATOSIS 1, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, 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, ?MYOPATHY, SCAPULOHUMEROPERONEAL, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, TIETZ ALBINISM-DEAFNESS SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, 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, CARDIOMYOPATHY, HYPERTROPHIC, 7, SMITH-KINGSMORE SYNDROME

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

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, ?NEUTROPHILIA, HEREDITARY, 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, DYSTONIA-11, MYOCLONIC, CANDIDIASIS, FAMILIAL, 9, 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}, CATSHL SYNDROME, FRONTOTEMPORAL DEMENTIA, POROKERATOSIS 7, MULTIPLE TYPES, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, ?RETINAL ARTERIES, TORTUOSITY OF, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 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}, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, FUHRMANN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, VON WILLEBRAND DISEASE, TYPE 1, 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, PEUTZ-JEGHERS SYNDROME, BENIGN FAMILIAL HEMATURIA, IMMUNODEFICIENCY 44, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, PSEUDOHYPOALDOSTERONISM, TYPE I, EPIDERMOLYSIS BULLOSA, PRETIBIAL, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HAY-WELLS SYNDROME, BRACHYDACTYLY, TYPE A1, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, {?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, GLYCOGEN STORAGE DISEASE IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 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, 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, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, HEMOCHROMATOSIS TYPE 1, SPLIT-HAND/FOOT MALFORMATION 4, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, TUBEROUS SCLEROSIS-1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, 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, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STICKLER SYNDROME, TYPE III, DEAFNESS, AUTOSOMAL DOMINANT 13, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, QUEBEC PLATELET DISORDER, PICK DISEASE, 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, HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ANEMIA, SIDEROBLASTIC, 4, AORTIC ANEURYSM, FAMILIAL THORACIC 4, CORTICAL MALFORMATIONS, OCCIPITAL, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, WEISSENBACHER-ZWEYMULLER SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, 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, 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, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, PIERSON SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, CLEFT PALATE, ISOLATED, 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, HEMOCHROMATOSIS, TYPE 2B, 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, LONG QT SYNDROME 14, ACETYL-COA CARBOXYLASE DEFICIENCY, 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, RABSON-MENDENHALL SYNDROME, 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}, KNOBLOCH SYNDROME 1, ?IMMUNODEFICIENCY 45, {MELANOMA, CUTANEOUS MALIGNANT, 3}, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, SPINOCEREBELLAR ATAXIA 27, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ESTROGEN RESISTANCE, 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}, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, ACROCAPITOFEMORAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOTRICHOSIS 8, ?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}, 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, ADULT SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE 0, MUSCLE, TUMOR PREDISPOSITION SYNDROME, FACTOR XIIIA DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, NEUROCUTANEOUS MELANOSIS, SOMATIC, LEOPARD SYNDROME 1, LOEYS-DIETZ SYNDROME 4, IMMUNODEFICIENCY 15, CAMURATI-ENGELMANN DISEASE, PSEUDOACHONDROPLASIA, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, ?MYOFIBROMATOSIS, INFANTILE 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, {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, ?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, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, 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, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PCWH SYNDROME, SADDAN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPLENIC HYPOPLASIA, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, FRONTOMETAPHYSEAL DYSPLASIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, 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, FIBROCHONDROGENESIS 1, AXENFELD-RIEGER SYNDROME, TYPE 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, SENIOR-LOKEN SYNDROME 6, ROBINOW SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, 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, OCULOECTODERMAL SYNDROME, WAGNER SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, VISCERAL MYOPATHY, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BETHLEM MYOPATHY 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, LOEYS-DIETZ SYNDROME 1, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, 46,XX SEX REVERSAL, TYPE 2, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, PORENCEPHALY 2, RENAL ADYSPLASIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, SPINOCEREBELLAR ATAXIA 12, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, APERT SYNDROME, 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, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, 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, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, THANATOPHORIC DYSPLASIA, TYPE II, AMYOTROPHIC LATERAL SCLEROSIS 19, MULTIPLE SULFATASE DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CZECH DYSPLASIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, 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, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, RUBINSTEIN-TAYBI SYNDROME, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, LEUKODYSTROPHY, HYPOMYELINATING, 4, GLIOMA SUSCEPTIBILITY 1, OCULODENTODIGITAL DYSPLASIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, 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, PREMATURE OVARIAN FAILURE 7, HYPERFERRITINEMIA-CATARACT SYNDROME, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, AMELOGENESIS IMPERFECTA, TYPE IA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPLIT-HAND/FOOT MALFORMATION 1, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, OSTEOGLOPHONIC DYSPLASIA, ?DEAFNESS, X-LINKED 6, THROMBOCYTHEMIA 3, IMMUNODEFICIENCY 33, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, STICKLER SYNDROME, TYPE II, LI-FRAUMENI SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?MYOSCLEROSIS, CONGENITAL, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 53, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, {LEPROSY, SUSCEPTIBILITY TO}, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, EHLERS-DANLOS SYNDROME, TYPE IV, LISSENCEPHALY 3, AGAMMAGLOBULINEMIA 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, INFANTILE MYOFIBROMATOSIS 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, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MISMATCH REPAIR CANCER SYNDROME, THROMBOCYTOPENIA 4, NEPHROTIC SYNDROME, TYPE 12, MECKEL SYNDROME 4, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, ATAXIA-OCULOMOTOR APRAXIA 3, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, IMMUNODEFICIENCY, COMMON VARIABLE, 3, DYSTONIA 27, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

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

?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, ?IMMUNODEFICIENCY 39, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, BLAU 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}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, PERIODIC FEVER, FAMILIAL, 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, 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, LONG QT SYNDROME 14, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, SEBASTIAN SYNDROME, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, TUBEROUS SCLEROSIS 2, LONG QT SYNDROME 15, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, IMMUNODEFICIENCY 36, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, 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, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ESTROGEN RESISTANCE, {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, 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, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ?IMMUNODEFICIENCY 22, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, LOEYS-DIETZ SYNDROME 1, INFANTILE MYOFIBROMATOSIS 1, DEAFNESS, AUTOSOMAL DOMINANT 20/26, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, MAY-HEGGLIN ANOMALY, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ?MICROCEPHALY 12, PRIMARY, AUTOSOMAL RECESSIVE, RETINITIS PIGMENTOSA 11, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, WOLCOTT-RALLISON SYNDROME, 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, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, QUEBEC PLATELET DISORDER, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, ATAXIA-OCULOMOTOR APRAXIA 3, IMMUNODEFICIENCY 46, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PULMONARY VENOOCCLUSIVE DISEASE 2, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

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

IMMUNODEFICIENCY 15, 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, 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, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {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, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 35, ADAMS-OLIVER SYNDROME 5, CARDIOMYOPATHY, HYPERTROPHIC 6, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LEPRECHAUNISM, {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}, 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, 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}, ACETYL-COA CARBOXYLASE DEFICIENCY, BURKITT LYMPHOMA, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, GLYCOGEN STORAGE DISEASE IXC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, LI-FRAUMENI SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OSTEOGLOPHONIC DYSPLASIA, GRISCELLI SYNDROME, TYPE 1, THROMBOCYTHEMIA 3, OCULOECTODERMAL SYNDROME, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, GLYCOGEN STORAGE DISEASE IA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, NEPHROTIC SYNDROME, TYPE 1, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, IMMUNODEFICIENCY 14, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CARDIOMYOPATHY, DILATED, 1NN, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, IMMUNODEFICIENCY 8, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, {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, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, BLEEDING DISORDER, PLATELET-TYPE, 11, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, 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, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, MCARDLE DISEASE, MYOPATHY, MYOFIBRILLAR, 5, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CARNEY COMPLEX, TYPE 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, 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, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, THROMBOCYTOPENIA 5, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

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

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, IMMUNODEFICIENCY 15, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, DIABETES INSIPIDUS, NEPHROGENIC, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ANEMIA, SIDEROBLASTIC, 4, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA WITH COLOBOMA 5, ATELOSTEOGENESIS, TYPE I, 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, ?BLEEDING DISORDER, PLATELET-TYPE, 19, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, 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, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN SYNDROME, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, LEOPARD SYNDROME 3, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, FRONTOMETAPHYSEAL DYSPLASIA, RENAL ADYSPLASIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {LEPROSY, SUSCEPTIBILITY TO}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, AORTIC VALVE DISEASE 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOPSEUDOHYPOPARATHYROIDISM, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?MULTIPLE SYNOSTOSES SYNDROME 3, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, AMYOTROPHIC LATERAL SCLEROSIS 19, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN 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}, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LARSEN SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, RETICULATE ACROPIGMENTATION OF KITAMURA, SPINOCEREBELLAR ATAXIA 15, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ESSENTIAL HYPERTENSION, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, PARKINSON DISEASE 1, CATSHL SYNDROME, 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, OVARIAN HYPERSTIMULATION SYNDROME, LONG QT SYNDROME 14, NEPHROTIC SYNDROME, TYPE 8, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, 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, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, RABSON-MENDENHALL SYNDROME, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SEGAWA SYNDROME, RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, 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, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, HETEROTOPIA, PERIVENTRICULAR, CLEFT PALATE, ISOLATED, OCULOECTODERMAL SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B, IMMUNODEFICIENCY 33, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SPINOCEREBELLAR ATAXIA 27, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, 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, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CLOVE SYNDROME, SOMATIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MUENKE SYNDROME, {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, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, 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}, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CARDIOMYOPATHY, DILATED, 1NN, GLYCOGEN STORAGE DISEASE VII, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, ?IMMUNODEFICIENCY 22, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SPINOCEREBELLAR ATAXIA 17, BLEEDING DISORDER, PLATELET-TYPE, 11, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOCHONDROPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, PSEUDOHYPOPARATHYROIDISM IA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, 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, LYMPHEDEMA, HEREDITARY, ID, NEUROFIBROMATOSIS, TYPE 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WATSON SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, PAGET DISEASE OF BONE 3, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON 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}, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, PSEUDOHYPOALDOSTERONISM, TYPE IIE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, MENTAL RETARDATION, X-LINKED 30/47, PSEUDOHYPOALDOSTERONISM, TYPE 2, TUMOR PREDISPOSITION SYNDROME, MYHRE SYNDROME, NEPHROTIC SYNDROME, TYPE 3, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, ?BLEEDING DISORDER, PLATELET-TYPE, 18, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, LEOPARD SYNDROME 1, THROMBOCYTOPENIA 5, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, 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, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

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

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ACNE INVERSA, FAMILIAL, 3, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, CZECH DYSPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA WITH COLOBOMA 5, ?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, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MELNICK-NEEDLES SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, 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, BURKITT LYMPHOMA, SPINOCEREBELLAR ATAXIA 14, CARASIL SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, WAARDENBURG SYNDROME, TYPE 2D, FRONTOTEMPORAL DEMENTIA, HEMOCHROMATOSIS TYPE 1, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, FRONTOMETAPHYSEAL DYSPLASIA, MULTIPLE SYNOSTOSES SYNDROME 1, ANEMIA, SIDEROBLASTIC, 4, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ALZHEIMER DISEASE, TYPE 4, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, DIAPHANOSPONDYLODYSOSTOSIS, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A1, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, BRACHYDACTYLY, TYPE C, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, VAN BUCHEM DISEASE, TYPE 2, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, GLIOMA SUSCEPTIBILITY 1, ?MULTIPLE SYNOSTOSES SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE IV, 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, DU PAN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, 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, EHLERS-DANLOS SYNDROME, TYPE 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, BRACHYDACTYLY, TYPE A1, C, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, PRIMARY PULMONARY HYPERTENSION, SPLIT-HAND/FOOT MALFORMATION 6, FUHRMANN SYNDROME, DENYS-DRASH SYNDROME, MULLERIAN APLASIA AND HYPERANDROGENISM, OVARIAN HYPERSTIMULATION SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, OTOPALATODIGITAL SYNDROME, TYPE II, LIMB-MAMMARY 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, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, WAARDENBURG SYNDROME, TYPE 3, FACTOR X DEFICIENCY, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, BRACHYDACTYLY, TYPE A1, D, TOOTH AGENESIS, SELECTIVE, 4, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, 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, SERKAL SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, CULLER-JONES SYNDROME, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, LOEYS-DIETZ SYNDROME 5, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, BLEEDING DISORDER, PLATELET-TYPE, 15, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT, OTOPALATODIGITAL SYNDROME, TYPE I, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, NEPHROTIC SYNDROME, TYPE 1, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, HETEROTOPIA, PERIVENTRICULAR, ?DYSTONIA, JUVENILE-ONSET, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, SED CONGENITA, KNIEST DYSPLASIA, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, 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, 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}, 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, EXUDATIVE VITREORETINOPATHY 4, DEAFNESS, AUTOSOMAL RECESSIVE 24, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, SPLIT-HAND/FOOT MALFORMATION 4, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, TUBEROUS SCLEROSIS-1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, EXUDATIVE VITREORETINOPATHY 1, OSTEOGENESIS IMPERFECTA, TYPE III, MYHRE SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, [BONE MINERAL DENSITY VARIABILITY 1], SPONDYLOCOSTAL DYSOSTOSIS 5, FRASIER SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, BRACHYDACTYLY, TYPE B2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ALPHA-FETOPROTEIN DEFICIENCY, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, 46,XX SEX REVERSAL, 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, HAY-WELLS SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, NEPHROTIC SYNDROME, TYPE 4, ADULT SYNDROME, ESTROGEN RESISTANCE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, SPINOCEREBELLAR ATAXIA 12, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, 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, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, NEPHROTIC SYNDROME, TYPE 6, GELEOPHYSIC DYSPLASIA 2, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, BRACHYDACTYLY, TYPE B1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC

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

LI-FRAUMENI SYNDROME, PREMATURE OVARIAN FAILURE 7, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, POLYCYTHEMIA VERA, SOMATIC, GLIOMA SUSCEPTIBILITY 1, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, GALACTOSEMIA, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, THROMBOCYTOPENIA 5, OCULOECTODERMAL SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CARDIOMYOPATHY, DILATED, 1NN, 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 44, NOONAN SYNDROME 9, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, CLOVE SYNDROME, SOMATIC, SHORT SYNDROME, OSTEOLYSIS, FAMILIAL EXPANSILE, CARDIOFACIOCUTANEOUS SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, 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}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 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}, THROMBOCYTHEMIA 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OPSISMODYSPLASIA, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATAXIA-OCULOMOTOR APRAXIA 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, RABSON-MENDENHALL SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 12, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, SEGAWA SYNDROME, RECESSIVE, SMITH-KINGSMORE SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, PROTEUS SYNDROME, SOMATIC

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

CORNEAL DYSTROPHY, LATTICE TYPE I, 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, CORNEAL DYSTROPHY, AVELLINO TYPE, 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, MELNICK-NEEDLES SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, 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, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 19, OTOPALATODIGITAL SYNDROME, TYPE II, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN 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, AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2, FRONTOMETAPHYSEAL DYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ADAMS-OLIVER SYNDROME 3, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, BURKITT LYMPHOMA, CRANIOSYNOSTOSIS AND DENTAL ANOMALIES, TUBEROUS SCLEROSIS 2, 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, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, AVASCULAR NECROSIS OF THE FEMORAL HEAD, 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, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, 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, 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}, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, 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}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, QUEBEC PLATELET DISORDER, CD8 DEFICIENCY, FAMILIAL, IMMUNODEFICIENCY 46, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, HETEROTOPIA, PERIVENTRICULAR, IMMUNODEFICIENCY, COMMON VARIABLE, 3, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

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

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, IMMUNODEFICIENCY 15, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, EPISODIC ATAXIA, TYPE 5, THANATOPHORIC DYSPLASIA, TYPE II, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ANEMIA, SIDEROBLASTIC, 4, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA WITH COLOBOMA 5, HUTCHINSON-GILFORD PROGERIA, ATELOSTEOGENESIS, TYPE I, 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, SPINOCEREBELLAR ATAXIA 42, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ENDOCRINE-CEREBROOSTEODYSPLASIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?BLEEDING DISORDER, PLATELET-TYPE, 19, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, 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, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN 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}, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, 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, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, LEOPARD SYNDROME 3, ?DYSTONIA 23, FRONTOTEMPORAL DEMENTIA, ALEXANDER DISEASE, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, FRONTOMETAPHYSEAL DYSPLASIA, EPISODIC ATAXIA, TYPE 2, LOEYS-DIETZ SYNDROME 2, 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, ACNE INVERSA, FAMILIAL, 3, MANDIBULOACRAL DYSPLASIA, ALZHEIMER DISEASE, TYPE 4, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {GLIOMA SUSCEPTIBILITY 9}, RUBINSTEIN-TAYBI SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, AORTIC VALVE DISEASE 2, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HUNTINGTON DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, GLIOMA SUSCEPTIBILITY 1, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, ?MULTIPLE SYNOSTOSES SYNDROME 3, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, 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}, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, LARSEN SYNDROME, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, OCULOECTODERMAL SYNDROME, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, EHLERS-DANLOS SYNDROME, TYPE 3, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, CATARACT 16, MULTIPLE TYPES, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, CATSHL SYNDROME, 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, SHORT SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, BEARE-STEVENSON CUTIS GYRATA SYNDROME, LONG QT SYNDROME 14, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, PSEUDOHYPOALDOSTERONISM, TYPE I, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, LIMB-MAMMARY SYNDROME, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, AXENFELD-RIEGER SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, RABSON-MENDENHALL SYNDROME, ROBINOW SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HAY-WELLS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, PULMONARY HYPERTENSION, PRIMARY, 3, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PAPILLORENAL SYNDROME, ?BLEEDING DISORDER, PLATELET-TYPE, 18, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, CONE-ROD DYSTROPHY, X-LINKED, 3, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, HETEROTOPIA, PERIVENTRICULAR, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, CLEFT PALATE, ISOLATED, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, MUSCULAR DYSTROPHY, CONGENITAL, DIAMOND-BLACKFAN ANEMIA 7, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 33, {MELANOMA, CUTANEOUS MALIGNANT, 3}, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, OTOPALATODIGITAL SYNDROME, TYPE I, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, SPINOCEREBELLAR ATAXIA 27, COMMON VARIABLE IMMUNODEFICIENCY 1, LI-FRAUMENI SYNDROME, SPINOCEREBELLAR ATAXIA 1, 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}, CARDIOMYOPATHY, DILATED, 1NN, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, RESTRICTIVE DERMOPATHY, LETHAL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HYPOKALEMIC PERIODIC PARALYSIS 1, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, 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}, {LEPROSY, SUSCEPTIBILITY TO}, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HEMOCHROMATOSIS TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SPLIT-HAND/FOOT MALFORMATION 4, {PARKINSON DISEASE 18}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ATAXIA-TELANGIECTASIA, SPINOCEREBELLAR ATAXIA 6, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, SPINOCEREBELLAR ATAXIA 17, 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, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, GLYCOGEN STORAGE DISEASE XI, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, THROMBOCYTOPENIA 5, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, AMYOTROPHIC LATERAL SCLEROSIS 19, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, LYMPHEDEMA, HEREDITARY, ID, NEUROFIBROMATOSIS, TYPE 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAGET DISEASE OF BONE 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, ADULT SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, PICK DISEASE, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, FACTOR XIIIA DEFICIENCY, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, DEJERINE-SOTTAS DISEASE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, BRODY MYOPATHY, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CARDIOMYOPATHY, DILATED, 1II, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LOEYS-DIETZ SYNDROME 4, HYDROCEPHALUS, NONSYNDROMIC, 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, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

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

IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {PSORIASIS SUSCEPTIBILITY 1}, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, 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}, IMMUNODEFICIENCY 43, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, CLOVE SYNDROME, SOMATIC, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 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, 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}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, IMMUNODEFICIENCY 36, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

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

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, DIHYDROPYRIMIDINURIA, GALACTOSE EPIMERASE DEFICIENCY, POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA, GABA-TRANSAMINASE DEFICIENCY, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, MALONYL-COA DECARBOXYLASE DEFICIENCY, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ?FANCONI RENOTUBULAR SYNDROME 3, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, LEOPARD SYNDROME 3, BETA-UREIDOPROPIONASE DEFICIENCY, BURKITT LYMPHOMA, 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, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, EPILEPSY, PYRIDOXINE-DEPENDENT, {GLIOMA SUSCEPTIBILITY 9}, MENTAL RETARDATION, X-LINKED, SNYDER-ROBINSON TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, SJOGREN-LARSSON SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

TUBA8, ECHS1, MYC, POT1, ALDH7A1, CAD, ALDH2, ALDH6A1, ALDH3A2, HIBCH, HADHA, DPYS, GALE, HADHB, SMS, VCP, EHHADH, JUP, MLYCD, DPYD, GAD1, GFPT1, UPB1, ACADM, CPS1, BRAF, TUFM, ABAT

ATROPHODERMA VERMICULATUM, HYPER-IGE RECURRENT INFECTION SYNDROME, ACHONDROPLASIA, ?NEUTROPHILIA, HEREDITARY, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?IMMUNODEFICIENCY 39, CEROID LIPOFUSCINOSIS NEURONAL 6, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, DYSAUTONOMIA, FAMILIAL, SICKLE CELL ANEMIA, EPIDERMOLYSIS BULLOSA SIMPLEX, RECESSIVE 1, NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3, (LEUKONYCHIA), 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, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, COFFIN-LOWRY SYNDROME, JOUBERT SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?WAISMAN SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, SPINOCEREBELLAR ATAXIA 15, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, 46XY SEX REVERSAL 9, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, GILLESPIE SYNDROME, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, EHLERS-DANLOS SYNDROME, TYPE 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, 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, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, 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, PARKINSON DISEASE 4, LUSCAN-LUMISH SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, HYPER-IGD SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, HYPOSPADIAS 1, X-LINKED, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, UV-SENSITIVE SYNDROME 2, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, 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, SPLIT-HAND/FOOT MALFORMATION 4, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, 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, 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, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY, ?CARDIOMYOPATHY, DILATED, 2A, DEAFNESS, AUTOSOMAL RECESSIVE 29, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, CURRARINO SYNDROME, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, CORTISONE REDUCTASE DEFICIENCY 2, SPINOCEREBELLAR ATAXIA 11, 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, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, OPTIC ATROPHY 1, FOCAL DERMAL HYPOPLASIA, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, HYPOCALCEMIA, AUTOSOMAL DOMINANT 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, NEMALINE MYOPATHY 5, AMISH TYPE, KABUKI SYNDROME 2, PIERSON SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, PERIODIC FEVER, FAMILIAL, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, CINCA SYNDROME, SOTOS SYNDROME 1, RENAL TUBULAR DYSGENESIS, ?SPINOCEREBELLAR ATAXIA 41, PSEUDOHYPOALDOSTERONISM, TYPE I, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, ACETYL-COA CARBOXYLASE DEFICIENCY, SEGAWA SYNDROME, RECESSIVE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, IMMUNODEFICIENCY 36, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, ?INFANTILE LIVER FAILURE SYNDROME 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, CRIGLER-NAJJAR SYNDROME, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, CATARACT 5, MULTIPLE TYPES, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 3, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FRAGILE X TREMOR/ATAXIA SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 18, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, AMYOTROPHY, HEREDITARY NEURALGIC, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, {EPILEPSY, FAMILIAL TEMPORAL LOBE, 7}, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 1, ACROCAPITOFEMORAL DYSPLASIA, FIBROCHONDROGENESIS 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 5, ROBINOW SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, BRACHYDACTYLY, TYPE B2, PENDRED'S SYNDROME, 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, 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, FACTOR XIIIA DEFICIENCY, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, DIAMOND-BLACKFAN ANEMIA 1, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, SJOGREN-LARSSON SYNDROME, MARSHALL SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, PSEUDOACHONDROPLASIA, SPHEROCYTOSIS, TYPE 4, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, LONG QT SYNDROME 13, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), SINGLETON-MERTEN SYNDROME 1, MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES, ANGIOEDEMA, HEREDITARY, TYPE III, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, PARIETAL FORAMINA 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, 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, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PHELAN-MCDERMID 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, SICK SINUS SYNDROME 1, OOCYTE MATURATION DEFECT 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, 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, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, EPIDERMOLYSIS BULLOSA SIMPLEX, KOEBNER TYPE, PAPILLORENAL SYNDROME, COLE-CARPENTER SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, ATRIAL SEPTAL DEFECT 5, IMMUNODEFICIENCY 14, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BONE MINERAL DENSITY QTL18, OSTEOPOROSIS, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, TRICHOHEPATOENTERIC SYNDROME 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ?ATRIAL FIBRILLATION 15, COPROPORPHYRIA, HARDEROPORPHYRIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, FRASIER SYNDROME, AGAMMAGLOBULINEMIA 4, 46,XX SEX REVERSAL, TYPE 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, CORNEAL DYSTROPHY, AVELLINO TYPE, MYHRE SYNDROME, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, CUTIS LAXA, AD, BRACHYDACTYLY, TYPE A1, SPERMATOGENIC FAILURE 7, STEATOCYSTOMA MULTIPLEX, PSEUDOHYPOALDOSTERONISM, TYPE IIE, 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, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, LYMPHEDEMA, HEREDITARY, ID, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, IMMUNODEFICIENCY 21, CHONDRODYSPLASIA, BLOMSTRAND TYPE, TOURETTE SYNDROME, {GILLES DE LA TOURETTE SYNDROME, SUSCEPTIBILITY TO}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 18, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, 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, 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, DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E, CONE-ROD DYSTROPHY, RETINITIS PIGMENTOSA, JUVENILE, LEBER CONGENITAL AMAUROSIS 4, ADAMS-OLIVER SYNDROME 3, NEPHROTIC SYNDROME, TYPE 8, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, UV-SENSITIVE SYNDROME 1, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BJORNSTAD SYNDROME, FUMARASE DEFICIENCY, 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, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, 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), 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, DENTIN DYSPLASIA, TYPE II, RENPENNING SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, 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, ?HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, LYMPHOPROLIFERATIVE SYNDROME 2, 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, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY, COMMON VARIABLE, 13, SUPRANUCLEAR PALSY, PROGRESSIVE, LONG QT SYNDROME 12, DEAFNESS, AUTOSOMAL DOMINANT 4A, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, AICARDI-GOUTIERES SYNDROME 7, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, LONG QT SYNDROME 15, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 38, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL, KERATOSIS PALMOPLANTARIS STRIATA I, AD, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE, CARASIL SYNDROME, DANON DISEASE, ABLEPHARON-MACROSTOMIA SYNDROME, BRACHIOOTIC SYNDROME 3, 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, CARDIOMYOPATHY, DILATED, 1E, ?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, LARSEN SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2U, C3 DEFICIENCY, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, 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, 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, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MYOPATHY, MYOFIBRILLAR, 5, HAY-WELLS SYNDROME, LONG QT SYNDROME 1, PARAGANGLIOMAS 3, IMMUNODEFICIENCY 12, HOLOPROSENCEPHALY-2, CULLER-JONES SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, MIRROR MOVEMENTS 2, ?WEBB-DATTANI SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, WIEDEMANN-STEINER SYNDROME, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, ELLIPTOCYTOSIS-2, EIKEN SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOKALEMIC PERIODIC PARALYSIS 1, 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, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ?DYSTONIA 23, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, 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, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, KARTAGENER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, 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}, HOLOPROSENCEPHALY-5, IMMUNODEFICIENCY 24, [ECULIZUMAB, POOR RESPONSE TO], EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC, ?MIRROR MOVEMENTS 3, AORTIC ANEURYSM, FAMILIAL THORACIC 4, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, 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, BLAU SYNDROME, SPINOCEREBELLAR ATAXIA 14, D-BIFUNCTIONAL PROTEIN DEFICIENCY, ?SPINOCEREBELLAR ATAXIA 26, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LISSENCEPHALY 5, LEOPARD SYNDROME 3, PSEUDOHYPOPARATHYROIDISM IA, PULMONARY HYPERTENSION, PRIMARY, 2, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, BRACHYDACTYLY, TYPE C, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CARDIOMYOPATHY, DILATED, 1NN, {BREAST-OVARIAN CANCER, FAMILIAL, 2}, 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, CRANIOSYNOSTOSIS, TYPE 2, NOONAN SYNDROME 9, DENYS-DRASH SYNDROME, MENTAL RETARDATION SYNDROME, X-LINKED, SIDERIUS TYPE, SEBASTIAN SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, TARSAL-CARPAL COALITION SYNDROME, FRAXE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, BEHR SYNDROME, MYOPATHY, TUBULAR AGGREGATE, 2, RABSON-MENDENHALL SYNDROME, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, SYMPHALANGISM, PROXIMAL, 1A, 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, {MELANOMA, CUTANEOUS MALIGNANT, 3}, IMMUNODEFICIENCY 30, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, PRIMARY LATERAL SCLEROSIS, JUVENILE, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12}, HYPERALPHALIPOPROTEINEMIA, [HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL 10], 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, GLYCOGEN STORAGE DISEASE VII, ?IMMUNODEFICIENCY 22, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, 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}, 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, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CEROID LIPOFUSCINOSIS, NEURONAL, 11, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, 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, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, WAARDENBURG SYNDROME, TYPE 4A, ?OSTEOGENESIS IMPERFECTA, TYPE X, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, 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, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, SPINOCEREBELLAR ATAXIA 21, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, ESSENTIAL HYPERTENSION, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PARKINSON DISEASE 1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, 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, {BLEPHAROSPASM, PRIMARY BENIGN}, 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 II, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, ?DYSTONIA, JUVENILE-ONSET, VISCERAL MYOPATHY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ?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, NASU-HAKOLA DISEASE, ALPORT SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, [PREMATURE CHROMATID SEPARATION TRAIT], ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HOLOPROSENCEPHALY 11, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 1, MAY-HEGGLIN ANOMALY, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, AMINOACYLASE 1 DEFICIENCY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, PORENCEPHALY 2, VON WILLIBRAND DISEASE, TYPE 3, DEAFNESS, AUTOSOMAL RECESSIVE 37, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 12, NEPHROTIC SYNDROME, TYPE 3, PARAGANGLIOMAS 4, APERT SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, {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, IMMUNODEFICIENCY 9, 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, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 37, INTERSTITIAL LUNG AND LIVER DISEASE, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MYOPATHY, DISTAL, 4, DIAMOND-BLACKFAN ANEMIA 3, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, HUTCHINSON-GILFORD PROGERIA, BARDET-BIEDL SYNDROME 3, SPINOCEREBELLAR ATAXIA 28, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, TOOTH AGENESIS, SELECTIVE, 7, LEBER OPTIC ATROPHY AND DYSTONIA, BIRT-HOGG-DUBE SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3, ?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, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, MUCKLE-WELLS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, MYOPATHY, DISTAL, TATEYAMA TYPE, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, IVIC SYNDROME, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, WEAVER SYNDROME, 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, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, GLYCINE ENCEPHALOPATHY, IMMUNODEFICIENCY 33, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, CORNELIA DE LANGE SYNDROME 3, SED CONGENITA, LYMPHOPROLIFERATIVE SYNDROME 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, 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, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, 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, DIABETES INSIPIDUS, NEPHROGENIC, PEELING SKIN SYNDROME 1, CILIARY DYSKINESIA, PRIMARY, 16, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 6, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, TIETZ ALBINISM-DEAFNESS SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 7, SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE, ATAXIA-OCULOMOTOR APRAXIA 3, KABUKI SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC, 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, PROXIMAL MYOPATHY AND OPHTHALMOPLEGIA, VERHEIJ SYNDROME, FACTOR V DEFICIENCY, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, MIRROR MOVEMENTS 1, {PARKINSON DISEASE 8}, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, 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, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 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}, SPINOCEREBELLAR ATAXIA 27, IMMUNODEFICIENCY 35, VAN BUCHEM DISEASE, TYPE 2, {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, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, ?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}, PELGER-HUET ANOMALY, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, RETINITIS PIGMENTOSA 13, COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS, AGAMMAGLOBULINEMIA 1, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 4, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, 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], DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III, MENTAL RETARDATION, X-LINKED, SYNDROMIC 13, PARKINSON DISEASE 6, EARLY ONSET, MYASTHENIC SYNDROME, CONGENITAL, 16, HYPERLYSINEMIA, SMITH-MAGENIS SYNDROME, MENTAL RETARDATION, X-LINKED 72, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, DEAFNESS, X-LINKED 5, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE XVII, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, DEAFNESS, AUTOSOMAL DOMINANT 13, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, STRIATAL DEGENERATION, AUTOSOMAL DOMINANT 2, IMMUNODEFICIENCY 20, HETEROTOPIA, PERIVENTRICULAR, PARKINSON DISEASE 21, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, ?LICHTENSTEIN-KNORR SYNDROME, ?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, 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, DEAFNESS, AUTOSOMAL DOMINANT 56, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DUANE-RADIAL RAY SYNDROME, EPIDERMOLYTIC HYPERKERATOSIS, 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, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, DIAMOND-BLACKFAN ANEMIA 8, CARDIOMYOPATHY, HYPERTROPHIC, 12, VELOCARDIOFACIAL SYNDROME, PRIMARY PULMONARY HYPERTENSION, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, IMMUNODEFICIENCY 19, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, STRIATONIGRAL DEGENERATION, INFANTILE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), CYLINDROMATOSIS, FAMILIAL, HYPOMAGNESEMIA 6, RENAL, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, NON-IMMUNE HYDROPS FETALIS, ?IMMUNODEFICIENCY 25, EVEN-PLUS SYNDROME, [BONE MINERAL DENSITY VARIABILITY 1], LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LAMB-SHAFFER SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, ACNE INVERSA, FAMILIAL, 1, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, KINDLER SYNDROME, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 57, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, ESTROGEN RESISTANCE, 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, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE 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, DEAFNESS, AUTOSOMAL RECESSIVE 53, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL, C4A DEFICIENCY, 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, ADULT SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, CHONDRODYSPLASIA, GREBE TYPE, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, DEAFNESS, AUTOSOMAL DOMINANT 25, ATRIAL FIBRILLATION, FAMILIAL, 6, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, XERODERMA PIGMENTOSUM, GROUP D, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY 15, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, {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, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, 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, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OPSISMODYSPLASIA, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, DIGEORGE SYNDROME, MEVALONIC ACIDURIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ATRIAL STANDSTILL 2, LEPRECHAUNISM, CD8 DEFICIENCY, FAMILIAL, PARKINSONISM-DYSTONIA, INFANTILE, FRONTOMETAPHYSEAL DYSPLASIA, 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}, 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, POLYCYTHEMIA VERA, SOMATIC, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, OCULOECTODERMAL SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PARKINSON DISEASE, JUVENILE, TYPE 2, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, LEUKODYSTROPHY, HYPOMYELINATING, 12, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, DEAFNESS, AUTOSOMAL RECESSIVE 70, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, PROUD SYNDROME, ALAGILLE SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 2, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, 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, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24, RENAL ADYSPLASIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2A2, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, PALLISTER-HALL SYNDROME, HYPOMAGNESEMIA 3, RENAL, ACNE INVERSA, FAMILIAL, 2, {OSTEOARTHRITIS SUSCEPTIBILITY 1}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, KEPPEN-LUBINSKY SYNDROME, 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, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ?FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 4, SPINOCEREBELLAR ATAXIA 5, 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, 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, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, EPISODIC ATAXIA, TYPE 2, STROMME SYNDROME, ACNE INVERSA, FAMILIAL, 3, {GLIOMA SUSCEPTIBILITY 9}, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, GLIOMA SUSCEPTIBILITY 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, 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, ?IMMUNODEFICIENCY 16, RUBINSTEIN-TAYBI SYNDROME, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PREMATURE OVARIAN FAILURE 7, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, SPINOCEREBELLAR ATAXIA 36, AMELOGENESIS IMPERFECTA, TYPE IA, URBACH-WIETHE DISEASE, COWCHOCK SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD, 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, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, SPINOCEREBELLAR ATAXIA 6, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PANCREATIC AGENESIS 1, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, 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, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, AGAMMAGLOBULINEMIA 2, {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, NEUROFIBROMATOSIS, TYPE 2, 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, PCWH SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, WAGNER SYNDROME 1, GLYCOGEN STORAGE DISEASE XI, GLYCOGEN STORAGE DISEASE X, WILSON-TURNER SYNDROME, ?SPERMATOGENIC FAILURE 13, ALEXANDER DISEASE, PROPERDIN DEFICIENCY, X-LINKED, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, NEPHROTIC SYNDROME, TYPE 12, MENTAL RETARDATION, X-LINKED 90, RETINITIS PIGMENTOSA 70, DIAMOND-BLACKFAN ANEMIA 7, 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, THANATOPHORIC DYSPLASIA, TYPE I, MULTIPLE ENDOCRINE NEOPLASIA IIB, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, PULMONARY VENOOCCLUSIVE DISEASE 1, 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}, HOLOPROSENCEPHALY-9, FRONTOTEMPORAL DEMENTIA, POROKERATOSIS 7, MULTIPLE TYPES, VERTICAL TALUS, CONGENITAL, CHARCOT-MARIE-TOOTH DISEASE, FOOT DEFORMITY OF, ?RETINAL ARTERIES, TORTUOSITY OF, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, ATAXIA-TELANGIECTASIA-LIKE DISORDER, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ADAMS-OLIVER SYNDROME 5, ATRIAL FIBRILLATION, FAMILIAL, 3, BECKWITH-WIEDEMANN SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, SECKEL SYNDROME 1, AORTIC ANEURYSM, FAMILIAL THORACIC 8, PEUTZ-JEGHERS SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 41, IMMUNODEFICIENCY 44, BRUNNER SYNDROME, OVARIAN HYPERSTIMULATION SYNDROME, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, 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, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WELANDER DISTAL MYOPATHY, LYMPHEDEMA, HEREDITARY, IA, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ARTHROGRYPOSIS, DISTAL, TYPE 2A, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, LIANG DISTAL MYOPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 6, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, 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, EXUDATIVE VITREORETINOPATHY 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, PLEUROPULMONARY BLASTOMA, COENZYME Q10 DEFICIENCY, PRIMARY, 3, ?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, IMMUNODEFICIENCY, COMMON VARIABLE, 4, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 7, PICK DISEASE, ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1, 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, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ANEMIA, SIDEROBLASTIC, 4, 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, 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, CORNEAL DYSTROPHY, CONGENITAL STROMAL, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, 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, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, PARKINSON DISEASE 20, EARLY-ONSET, 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, 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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CLEFT PALATE, ISOLATED, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, 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, 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, IMMUNODEFICIENCY 11, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPOTRICHOSIS 8, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, DUBIN-JOHNSON SYNDROME, ERYTHROCYTOSIS, FAMILIAL, 2, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, COMPLEMENT FACTOR I DEFICIENCY, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE, NEUROCUTANEOUS MELANOSIS, SOMATIC, LOEYS-DIETZ SYNDROME 4, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, ACROKERATOSIS VERRUCIFORMIS, CAMURATI-ENGELMANN DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, 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, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, PORETTI-BOLTSHAUSER SYNDROME, DEJERINE-SOTTAS DISEASE, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, 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, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PRION DISEASE WITH PROTRACTED COURSE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC 6, GIANT AXONAL NEUROPATHY-1, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, SPLENIC HYPOPLASIA, USHER SYNDROME TYPE 3B, DIAMOND-BLACKFAN ANEMIA 6, ENCEPHALOPATHY, NEONATAL SEVERE, FILS SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, CHYLOMICRON RETENTION DISEASE, 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, LISSENCEPHALY 3, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, 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, VITAMIN D-DEPENDENT RICKETS, TYPE I, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, CRYOHYDROCYTOSIS, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS 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, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, {SPINAL MUSCULAR ATROPHY, TYPE III, MODIFIER OF}, SPINAL MUSCULAR ATROPHY-3, SPINOCEREBELLAR ATAXIA 23, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, FAMILIAL MEDITERRANEAN FEVER, AD, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, NEPHROTIC SYNDROME, TYPE 4, MASP2 DEFICIENCY, MYOCLONUS, FAMILIAL CORTICAL, CEREBROOCULOFACIOSKELETAL SYNDROME 4, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, 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, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, 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, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, CEREBROCOSTOMANDIBULAR SYNDROME, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, HYPERCALCEMIA, INFANTILE, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, VESICOURETERAL REFLUX 8, HERMANSKY-PUDLAK SYNDROME 1, CEREBELLAR HYPOPLASIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1, AGAMMAGLOBULINEMIA, X-LINKED 1, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, 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, DU PAN SYNDROME, 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, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), 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, WAARDENBURG SYNDROME, TYPE 3, PARIETAL FORAMINA 1, FACTOR X DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, SPLIT-HAND/FOOT MALFORMATION 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, SHORT QT SYNDROME 2, ?DEAFNESS, X-LINKED 6, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, TREMOR, HEREDITARY ESSENTIAL, 4, CHOREA, HEREDITARY BENIGN, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, SENIOR-LOKEN SYNDROME-1, CEREBRAL AMYLOID ANGIOPATHY, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, KNIEST DYSPLASIA, ?MULTIPLE SYNOSTOSES SYNDROME 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, CALCIUM OXALATE UROLITHIASIS, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, 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, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ANGIOEDEMA, HEREDITARY, TYPES I AND II, NEPHROTIC SYNDROME, TYPE 6, WOLCOTT-RALLISON SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2, HYPOPHOSPHATASIA, CHILDHOOD, PAGET DISEASE OF BONE 3, MENTAL RETARDATION, X-LINKED 58, DEAFNESS, AUTOSOMAL RECESSIVE 84A, THROMBOCYTOPENIA 4, UTERINE LEIOMYOMA, 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

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