INHERITANCE

IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?IMMUNODEFICIENCY 22, METACHONDROMATOSIS, IMMUNODEFICIENCY 43, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, ?IMMUNODEFICIENCY 25, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RHEUMATOID ARTHRITIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS 2, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, LEOPARD SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

LCK, PDCD1, STAT1, B2M, CD3G, CD247, IFNG, HLA-DRB1, CD3E, HLA-DQB1, PTPN11, HLA-DQA1, IFNGR1, CD3D, TRAC

MACULAR DEGENERATION, EARLY-ONSET, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MICROPHTHALMIA, SYNDROMIC 6, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, SUPRAVALVAR AORTIC STENOSIS, AORTIC ANEURYSM, FAMILIAL THORACIC 9, LOEYS-DIETZ SYNDROME 2, CORNEAL DYSTROPHY, CONGENITAL STROMAL, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DIAPHANOSPONDYLODYSOSTOSIS, {EXFOLIATION SYNDROME, SUSCEPTIBILITY TO}, BRACHYDACTYLY, TYPE C, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, ADAMS-OLIVER SYNDROME 5, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, OSTEOGENESIS IMPERFECTA, TYPE IV, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DU PAN SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, EHLERS-DANLOS SYNDROME, TYPE 3, BRACHYDACTYLY, TYPE A1, C, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, MULTIPLE SYNOSTOSES SYNDROME 2, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, BURKITT LYMPHOMA, MALFORMATION OF THE HEART, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, BRACHYDACTYLY, TYPE A1, D, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOGENESIS IMPERFECTA, TYPE I, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, CAFFEY DISEASE, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, AMELOGENESIS IMPERFECTA, TYPE IH, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, OSTEOGENESIS IMPERFECTA, TYPE II, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, ALAGILLE SYNDROME, DENTAL ANOMALIES AND SHORT STATURE, BRACHYDACTYLY, TYPE A2, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, CAMURATI-ENGELMANN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ECTOPIA LENTIS, FAMILIAL, DOYNE HONEYCOMB DEGENERATION OF RETINA, OROFACIAL CLEFT 11, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, PLASMA FIBRONECTIN DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 17, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, GLAUCOMA 1, OPEN ANGLE, E, IMAGE SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, GELEOPHYSIC DYSPLASIA 2, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, RENAL ADYSPLASIA, ACROMICRIC DYSPLASIA, CUTIS LAXA, AD, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, QUEBEC PLATELET DISORDER, CHONDRODYSPLASIA, GREBE TYPE, MARFAN LIPODYSTROPHY SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4

TGFBR1, ACAN, ITGA8, MYC, FBLN1, EFEMP1, COL1A1, TGFB1, NOTCH1, ITGB6, TGFB3, TGFB2, LTBP3, BMP2, LEMD3, LTBP2, BMP4, CDH1, FN1, FBLN5, EGFR, DCN, FBN1, ELN, GDF5, COL1A2, FBN2, UBQLN2, LTBP4, CDKN1C, BMPER, JAG1, GFI1B, TGFBR2, SMAD4, BMPR1B, ACVR1, ITGB3, EFEMP2, KDR, MFAP5, IGF1, ATN1, PLAU

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ATROPHODERMA VERMICULATUM, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BRACHYDACTYLY, TYPE A1, D, USHER SYNDROME, TYPE 1B, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MICROPHTHALMIA, SYNDROMIC 6, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ?NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, SYNDACTYLY, TYPE III, DEAFNESS, AUTOSOMAL DOMINANT 11, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, BARAITSER-WINTER SYNDROME 2, RETINITIS PIGMENTOSA, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, CAMURATI-ENGELMANN DISEASE, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, FRONTOTEMPORAL DEMENTIA, LEBER CONGENITAL AMAUROSIS 14, RETINITIS PIGMENTOSA, JUVENILE, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LOEYS-DIETZ SYNDROME 2, CORNEAL DYSTROPHY, CONGENITAL STROMAL, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, ACNE INVERSA, FAMILIAL, 3, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, {MACULAR DEGENERATION, AGE-RELATED, 2}, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, 1NN, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, OCULODENTODIGITAL DYSPLASIA, HYPERPROINSULINEMIA, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ESSENTIAL HYPERTENSION, AORTIC ANEURYSM, FAMILIAL THORACIC 8, PREMATURE OVARIAN FAILURE 7, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSON DISEASE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CONE-ROD DYSTROPHY 14, CONE DYSTROPHY-3, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, OGUCHI DISEASE-1, LONG QT SYNDROME 14, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, BURKITT LYMPHOMA, HYPERLIPOPROTEINEMIA, TYPE IB, INCONTINENTIA PIGMENTI, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, CAPILLARY MALFORMATIONS, CONGENITAL, 1, SOMATIC, MOSAIC, OSSEOUS HETEROPLASIA, PROGRESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, PARKINSON DISEASE 4, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, NOONAN SYNDROME 4, RETINITIS PIGMENTOSA-40, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ALZHEIMER DISEASE-2, LEBER CONGENITAL AMAUROSIS 13, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, LI-FRAUMENI SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, ?DYSTONIA, JUVENILE-ONSET, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, GLUCOCORTICOID RESISTANCE, GLIOMA SUSCEPTIBILITY 1, ADRENAL CORTICAL CARCINOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, RETINITIS PIGMENTOSA 57, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, SMALL CELL CANCER OF THE LUNG, SOMATIC, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, BRACHYDACTYLY, TYPE A2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, CARPAL TUNNEL SYNDROME, FAMILIAL, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1D, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 63, COLORBLINDNESS, PROTAN, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, OROFACIAL CLEFT 11, DARIER DISEASE, HEMOCHROMATOSIS TYPE 1, PULMONARY HYPERTENSION, PRIMARY, 3, RETINITIS PIGMENTOSA 45, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, LEBER CONGENITAL AMAUROSIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, MYOTUBULAR MYOPATHY, X-LINKED, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, ATRIAL STANDSTILL 2, LIPOPROTEIN LIPASE DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 6, DEAFNESS, AUTOSOMAL DOMINANT 20/26, PSEUDOHYPOPARATHYROIDISM IA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, RETINITIS PIGMENTOSA 20, COLORBLINDNESS, TRITAN, OMODYSPLASIA 1, LOEYS-DIETZ SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 9, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, ?FIBROMATOSIS, GINGIVAL, 1, BARAITSER-WINTER SYNDROME 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, PORETTI-BOLTSHAUSER SYNDROME, NOONAN SYNDROME 7, BLUE CONE MONOCHROMACY, HYPOBETALIPOPROTEINEMIA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, ?RETINITIS PIGMENTOSA 66, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEBER CONGENITAL AMAUROSIS 2, QUEBEC PLATELET DISORDER, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, PICK DISEASE, SPERMATOGENIC FAILURE 8, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, PANCREATIC LIPASE DEFICIENCY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ATRIAL FIBRILLATION, FAMILIAL, 6, SEA-BLUE HISTIOCYTE DISEASE, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, DEAFNESS, AUTOSOMAL RECESSIVE 2, BOTHNIA RETINAL DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, CONE-ROD DYSTROPHY 6, CARDIOMYOPATHY, DILATED, 1U, TANGIER DISEASE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, ACROKERATOSIS VERRUCIFORMIS, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

CALM1, APOE, CAV1, APOB, RDH5, MYC, ACTB, GNAS, IKBKG, PSEN1, AGT, RLBP1, RHO, CDH1, GJA1, RYR2, RARS, RANBP2, BMP4, CLASP1, SLC24A1, DNM2, AKR1C4, ACSL4, TGFBR2, CREBBP, APOA2, GNAQ, APOA1, PLAU, NPPA, SLC9A3R1, GUCY2D, RBP3, DAG1, LAMA1, OPN1LW, LEP, GNAT1, CCND1, AGRN, TGFBR1, ITPR1, PRKG1, SDC3, RBP4, STAT3, PDE6B, INS, BCO1, TTR, GPC3, CTNNB1, STAT1, BMP2, PPP2R1A, TUBB, MYO7A, NR3C1, AKT1, RPE65, GPC6, TUBB2A, LDLR, LRP2, CNGB1, SNCA, LRAT, PDE6G, ACTA2, RAF1, OPN1SW, DDOST, RB1, RDH11, ACTG1, BMPR1B, SAG, TGFB1, NR5A1, APOC2, LPL, SPTLC1, TUBA4A, SOS1, TP53, BRAF, IL6, ABCA4, DCN, APP, GUCA1A, SNAP25, EGFR, STRA6, LRP1, OCLN, HTRA1, ATP2A2, HSPG2, CNGA1, PNLIP, RDH12, CASK, PDGFB

BARAITSER-WINTER SYNDROME 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, FACTOR V DEFICIENCY, CAMURATI-ENGELMANN DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SHORT SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA WITH COLOBOMA 5, 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, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, COMPLEMENT FACTOR D DEFICIENCY, MELNICK-NEEDLES SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOPATHY, DISTAL, 4, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, DANON DISEASE, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, FRONTOMETAPHYSEAL DYSPLASIA, CORNEAL DYSTROPHY, CONGENITAL STROMAL, GLYCOGEN STORAGE DISEASE XII, ALPHA-2-MACROGLOBULIN DEFICIENCY, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {GLIOMA SUSCEPTIBILITY 9}, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, RENAL TUBULAR DYSGENESIS, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, OTOPALATODIGITAL SYNDROME, TYPE II, GLIOMA SUSCEPTIBILITY 1, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, HEMOPHILIA A, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, VON WILLEBRAND DISEASE, TYPE 1, HOLOPROSENCEPHALY-3, HYPERPROINSULINEMIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, BLEEDING DISORDER, PLATELET-TYPE, 15, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ATRANSFERRINEMIA, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, DENYS-DRASH SYNDROME, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, {BUDD-CHIARI SYNDROME}, BURKITT LYMPHOMA, AMYLOIDOSIS, FINNISH TYPE, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, FRAXE, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, COMBINED SAP DEFICIENCY, GALACTOSIALIDOSIS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MYOPATHY, MYOFIBRILLAR, 5, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, IMMUNODEFICIENCY 36, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, HETEROTOPIA, PERIVENTRICULAR, THROMBOCYTHEMIA 3, {MELANOMA, CUTANEOUS MALIGNANT, 3}, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, OTOPALATODIGITAL SYNDROME, TYPE I, ?DYSTONIA, JUVENILE-ONSET, LI-FRAUMENI SYNDROME, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, CARDIAC VALVULAR DYSPLASIA, X-LINKED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, PLATELET GLYCOPROTEIN IV DEFICIENCY, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, 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}, ADRENAL CORTICAL CARCINOMA, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, PLASMA FIBRONECTIN DEFICIENCY, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, SPINOCEREBELLAR ATAXIA 17, KRABBE DISEASE, ATYPICAL, CHOROID PLEXUS PAPILLOMA, LOEYS-DIETZ SYNDROME 5, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, FRASIER SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LYMPHEDEMA, HEREDITARY, ID, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, GLANZMANN THROMBASTHENIA, NEPHROTIC SYNDROME, TYPE 4, OSTEOGENESIS IMPERFECTA, TYPE XVII, DEAFNESS, AUTOSOMAL RECESSIVE 39, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, FACTOR XIIIA DEFICIENCY, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LOEYS-DIETZ SYNDROME 4, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, PROTEUS SYNDROME, SOMATIC, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CALM1, ACTA1, SOD1, TF, TGFB2, APP, SHH, PSAP, APOA1, MYC, ACTN1, SERPINA1, NOS2, F8, ACTB, VWF, FLNC, ACTN4, FGB, TGFB1, MMP2, CTSA, FLNA, HSPG2, STAT1, TGFB3, ITGB3, KNG1, AGT, TBX19, HRG, TBP, LDLR, TUBA4A, CD44, NOS3, IGF2, IL2RA, AKT1, FN1, PROS1, CALR, FGA, ALDOA, F2, PLG, IGF1R, ERBB3, JAK2, WT1, IRS1, DCN, POMC, SPARC, HGF, VEGFC, ACTN2, CD36, IFNG, A2M, ITGA2B, EGFR, CDK4, TTN, FGG, IGF1, SERPING1, F13A1, POT1, ALB, GSN, SELP, CFD, CDH1, PIK3R1, SOX2, F5, INS, LAMP2, SERPINE1, CTCF, TP53, SERPINF2, PDGFB

BARAITSER-WINTER SYNDROME 1, RETINITIS PIGMENTOSA 37, SPONDYLOCOSTAL DYSOSTOSIS 5, IMMUNODEFICIENCY 15, CORNEAL DYSTROPHY, LATTICE TYPE I, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BECKER MUSCULAR DYSTROPHY, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, SUPRAVALVAR AORTIC STENOSIS, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, ?FIBROMATOSIS, GINGIVAL, 1, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA WITH COLOBOMA 5, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SYNDACTYLY, TYPE III, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, OROFACIAL CLEFT 11, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, BURKITT LYMPHOMA, RETINITIS PIGMENTOSA, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, 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, CATSHL SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LEOPARD SYNDROME 3, CONGENITAL DIAPHRAGMATIC HERNIA, ALEXANDER DISEASE, CAMURATI-ENGELMANN DISEASE, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, TRIGONOCEPHALY 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, TRICHOMEGALY, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 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}, ?RENAL HYPODYSPLASIA/APLASIA 2, VON WILLEBRAND DISEASE, TYPE 1, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, GLIOMA SUSCEPTIBILITY 1, ?MULTIPLE SYNOSTOSES SYNDROME 3, SPHEROCYTOSIS, TYPE 3, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, ACHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, HOLOPROSENCEPHALY-3, HYPERPROINSULINEMIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, LIEBENBERG SYNDROME, SPINOCEREBELLAR ATAXIA 15, ?IMMUNODEFICIENCY 22, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ENHANCED S-CONE SYNDROME, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NEUROFIBROMATOSIS-NOONAN SYNDROME, RETINITIS PIGMENTOSA 13, PARKINSON DISEASE 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, SHORT SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, SMITH-KINGSMORE SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, LONG QT SYNDROME 14, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, AMYLOIDOSIS, FINNISH TYPE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OPSISMODYSPLASIA, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPIDERMAL NEVUS, PSEUDOHYPOALDOSTERONISM, TYPE IIE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, METACARPAL 4-5 FUSION, DEAFNESS, AUTOSOMAL RECESSIVE 89, COMMON VARIABLE IMMUNODEFICIENCY 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, PAPILLORENAL SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, HEREDITARY PYROPOIKILOCYTOSIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DUCHENNE MUSCULAR DYSTROPHY, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, HARTSFIELD SYNDROME, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, HYPOCHONDROPLASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, CORPUS CALLOSUM, PARTIAL AGENESIS OF, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, 1NN, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, SMALL CELL CANCER OF THE LUNG, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, ELLIPTOCYTOSIS-2, QUEBEC PLATELET DISORDER, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, CALCIUM OXALATE UROLITHIASIS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, WAARDENBURG SYNDROME, TYPE 1, NEUROCUTANEOUS MELANOSIS, SOMATIC, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BARAITSER-WINTER SYNDROME 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, PLASMA FIBRONECTIN DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, WAARDENBURG SYNDROME, TYPE 3, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, DEAFNESS, AUTOSOMAL DOMINANT 20/26, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, CORNEAL DYSTROPHY, GROENOUW TYPE I, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, KOSAKI OVERGROWTH SYNDROME, JACKSON-WEISS SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, PANCREATIC CANCER/MELANOMA SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, METACHONDROMATOSIS, PIEBALDISM, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, MYOPIA 23, AUTOSOMAL RECESSIVE, CORNEAL DYSTROPHY, AVELLINO TYPE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, PAPILLARY THYROID CARCINOMA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, NOONAN SYNDROME 7, MICROPHTHALMIA, SYNDROMIC 6, FAMILIAL COLORECTAL CANCER, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPHEROCYTOSIS, TYPE 2, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MAST CELL DISEASE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, THROMBOCYTHEMIA 3, PSEUDOHYPOALDOSTERONISM, TYPE 2, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, AMYOTROPHIC LATERAL SCLEROSIS 19, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, HYPOPARATHYROIDISM FAMILIAL ISOLATED, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MASA SYNDROME, CRASH SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LADD SYNDROME, LEOPARD SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, BENT BONE DYSPLASIA SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PREMATURE AGING SYNDROME, PENTTINEN TYPE, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, EZH2, F2, SPRY4, SPTA1, PRPF8, MYC, ACTB, CUL3, ACTN1, AGT, TGFBI, GFAP, ATP1A2, CSNK1D, CDH1, GJA1, IL17RD, FGA, PLAU, B2M, PITX1, FGF17, CDKN2A, IL10, HSPB1, FGF3, RAB7A, EPS8, SPTAN1, FGFR4, SHOC2, PIK3CA, ACTN4, BMP4, FGG, ERBB2, NRAS, TEK, NR2E3, IL2RG, CTNNB1, SF3B4, NF1, ACTA1, CSF2RB, RASA1, PLEC, RUNX1, CBL, MAP2K2, FGF9, PSMB8, IGF2, VWF, NOS3, MTOR, FGFR1, LEP, PIK3CD, JAK2, RASSF1, SMARCE1, CCND1, PTH, SPRED1, CD44, ITPR1, GLUD1, FOXO1, SPRY2, PTPN1, RB1, FGF23, LAMTOR2, GRIN2A, RPS6KA3, FGF5, DUSP6, BRAF, INS, NFKB2, PAX3, NCF1, EDN1, GRIN2B, ITGB3, UBE2A, IL2RA, ACE, SMAD4, FGB, SYNGAP1, PAX2, HLA-DRB1, KRAS, PDGFRB, DMD, PPP2R1A, HES7, FGF20, PLK4, AKT1, CCND2, KL, INPPL1, WNT5A, VCP, ERBB3, TP53, EGFR, NEFL, IKBKB, HNRNPK, LRPAP1, MAPK8IP1, FN1, SNCA, IL1B, UBQLN2, KCNQ2, EFNB1, AKAP9, ERBB4, FGFR3, MUSK, GSN, KIT, STAT3, RUNX2, LCK, RAF1, IRS1, NGF, PRKCD, UBB, PPP2R5D, FBLN1, ACTG1, CSF1R, PIK3R2, NTRK1, PTPN11, SOS2, JAK3, ITGA2B, NOS2, FGF10, TGFB1, DISC1, SPTB, KITLG, PCNA, NOTCH1, PDGFB, SOS1, KARS, FGFR2, FGF16, IL6, CDKN1B, PHB, TNFAIP3, PDGFRA, L1CAM, BDNF, APP, SPTBN2, HRAS, IRS2, ACTN2, NR0B2, HSPG2, ESR1, PIK3R1, SERPINE1, GPD1L, PPP2R1B, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ATROPHODERMA VERMICULATUM, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MACULAR DEGENERATION, EARLY-ONSET, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 9, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, CZECH DYSPLASIA, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?STICKLER SYNDROME, TYPE V, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WEISSENBACHER-ZWEYMULLER SYNDROME, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA WITH COLOBOMA 5, ECTOPIA LENTIS, FAMILIAL, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, PORENCEPHALY 2, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CAVITARY OPTIC DISC ANOMALIES, AMELOGENESIS IMPERFECTA, TYPE IIA2, RENAL TUBULAR DYSGENESIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MYOPATHY, DISTAL, 4, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, STICKLER SYNDROME, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 19, PORETTI-BOLTSHAUSER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, EHLERS-DANLOS SYNDROME, TYPE IV, LISSENCEPHALY 5, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ATRIAL SEPTAL DEFECT 6, FRONTOTEMPORAL DEMENTIA, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, PORENCEPHALY 1, SUPRAVALVAR AORTIC STENOSIS, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, PYCNODYSOSTOSIS, MULTIPLE SYNOSTOSES SYNDROME 1, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, ?RETINAL ARTERIES, TORTUOSITY OF, ATRANSFERRINEMIA, CORNEAL DYSTROPHY, CONGENITAL STROMAL, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, ALPHA-2-MACROGLOBULIN DEFICIENCY, ACNE INVERSA, FAMILIAL, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PEELING SKIN SYNDROME 4, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, ADAMS-OLIVER SYNDROME 5, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, TOENAIL DYSTROPHY, ISOLATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, 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, GLANZMANN THROMBASTHENIA, HOLOPROSENCEPHALY-3, HYPERPROINSULINEMIA, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, RETICULATE ACROPIGMENTATION OF KITAMURA, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ESSENTIAL HYPERTENSION, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ?GLYCOPROTEIN IA DEFICIENCY, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, EBD, BART TYPE, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, AMELOGENESIS IMPERFECTA, TYPE IA, BENIGN FAMILIAL HEMATURIA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, FUHRMANN SYNDROME, FAMILIAL COLORECTAL CANCER, BLEEDING DISORDER, PLATELET-TYPE, 15, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EPIDERMOLYSIS BULLOSA, PRETIBIAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, STICKLER SYNDROME, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, STIFF SKIN SYNDROME, MYHRE SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, TARSAL-CARPAL COALITION SYNDROME, BETHLEM MYOPATHY 1, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, COLE-CARPENTER SYNDROME 1, CAFFEY DISEASE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 91, ?DEAFNESS, X-LINKED 6, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, KNOBLOCH SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, MARFAN LIPODYSTROPHY SYNDROME, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, ACNE INVERSA, FAMILIAL, 1, WHIM SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, STICKLER SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, HYPOSPADIAS 1, X-LINKED, ?MYOSCLEROSIS, CONGENITAL, ADRENAL CORTICAL CARCINOMA, SED CONGENITA, KNIEST DYSPLASIA, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, SPONDYLOPERIPHERAL DYSPLASIA, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, BRACHYDACTYLY, TYPE A2, AVASCULAR NECROSIS OF THE FEMORAL HEAD, MACROCEPHALY/AUTISM SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 53, CAMURATI-ENGELMANN DISEASE, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, WAARDENBURG SYNDROME, TYPE 2D, 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}, OROFACIAL CLEFT 11, 46,XX SEX REVERSAL, TYPE 2, EPIDERMOLYSIS BULLOSA PRURIGINOSA, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, PLASMA FIBRONECTIN DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, FRONTOMETAPHYSEAL DYSPLASIA, SPINOCEREBELLAR ATAXIA 17, FIBROCHONDROGENESIS 1, ALZHEIMER DISEASE, TYPE 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, CHOROID PLEXUS PAPILLOMA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, TRYPSINOGEN DEFICIENCY, FIBROCHONDROGENESIS 2, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BRACHYDACTYLY, TYPE B2, EPITHELIAL RECURRENT EROSION DYSTROPHY, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ERYTHROCYTOSIS, FAMILIAL, 2, NEUTROPENIA, CYCLIC, PIEBALDISM, MYOPATHY, MYOFIBRILLAR, 5, GELEOPHYSIC DYSPLASIA 2, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, TRANSIENT BULLOUS OF THE NEWBORN, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, FLETCHER FACTOR (PREKALLIKREIN) DEFICIENCY, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, CARDIOMYOPATHY, DILATED, 1U, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, OSTEOGENESIS IMPERFECTA, TYPE XVII, DEAFNESS, AUTOSOMAL RECESSIVE 39, ACROMICRIC DYSPLASIA, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CUTIS LAXA, AD, LARYNGOONYCHOCUTANEOUS SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, CEROID LIPOFUSCINOSIS, NEURONAL, 10, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEPHROTIC SYNDROME, TYPE 12, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, DEAFNESS, AUTOSOMAL DOMINANT 13, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, PICK DISEASE, HETEROTOPIA, PERIVENTRICULAR, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, LEGG-CALVE-PERTHES DISEASE, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, CEROID LIPOFUSCINOSIS, NEURONAL, 11, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, THROMBOCYTOPENIA 5, CARDIOMYOPATHY, DILATED, 1V, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, WEILL-MARCHESANI SYNDROME 2, DOMINANT, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, MARSHALL SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

KLKB1, LAMB1, WNT5A, PRSS1, COL1A1, PKD1, SERPINB6, COL3A1, F2, AGT, COL11A2, COL5A1, MMP19, CDH1, DDR2, SOX10, COL9A3, NOG, COL4A5, MMP1, COL10A1, BMP4, BMPER, SNAI2, COL4A2, ERBB2, IGF1, CAPN3, COL13A1, COL2A1, CTSD, DLL4, COL9A1, WNT7A, PRSS2, ACAN, FBLN5, ELN, COL8A2, AR, P4HB, GRN, NOTCH1, CCND1, DAG1, COL6A1, TNF, LAMA1, MMP13, PSEN1, ITGA2, COL9A2, NCSTN, SPINT2, PTH, IFNG, FBN2, SPARC, COL4A6, CD44, IL6, TF, STAT3, INS, ADAMTS18, COL7A1, FLNC, ITGB3, BMP1, CSTA, SMAD4, COL4A1, CTSK, ETV6, MMP20, CD40, PAX2, COL17A1, CD40LG, PSEN2, LAMA3, LAMB3, SOX9, VHL, COL4A4, BMP2, AKT1, MMP2, ELANE, DVL1, COL18A1, TP53, EGFR, FBN1, HGF, NUP93, A2M, FN1, COL6A2, IL1B, PTEN, COL6A3, RUNX2, KNG1, FLNA, NGF, COL25A1, FBLN1, LAMC2, AHSG, TGFB1, COL5A2, CXCR4, TBP, COL11A1, KITLG, PLG, DNMT1, COL4A3, DCN, TRH, APP, TLL1, ACTN1, MFAP5, COL1A2, LRP2, ACTN2, LRP1, ADAM17, SMAD3, ADAM10, HSPG2, SHH, TUFM, PTPRF, VWF

COLE-CARPENTER SYNDROME 2, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, {PSORIASIS SUSCEPTIBILITY 1}, CHYLOMICRON RETENTION DISEASE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CRANIOLENTICULOSUTURAL DYSPLASIA, IMMUNODEFICIENCY 43, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}

HLA-C, B2M, TAP2, CALR, SEC24D, TAP1, HLA-B, TAPBP, SEC23A, HLA-G, SAR1B, BCAP31

ATROPHODERMA VERMICULATUM, FACTOR V DEFICIENCY, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, COLE-CARPENTER SYNDROME 2, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSAUTONOMIA, FAMILIAL, POROKERATOSIS 7, MULTIPLE TYPES, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?RETINAL ARTERIES, TORTUOSITY OF, SALLA DISEASE, ALPHA-2-MACROGLOBULIN DEFICIENCY, 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}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, ADAMS-OLIVER SYNDROME 5, LEUKODYSTROPHY, HYPOMYELINATING, 11, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, BOHRING-OPITZ SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, VON WILLEBRAND DISEASE, TYPE 1, HYPERPROINSULINEMIA, C3 DEFICIENCY, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, AORTIC ANEURYSM, FAMILIAL THORACIC 8, IMMUNODEFICIENCY, COMMON VARIABLE, 10, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, X-LINKED 102, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, FAMILIAL COLORECTAL CANCER, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, KAHRIZI SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, RETINITIS PIGMENTOSA 59, NESTOR-GUILLERMO PROGERIA SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, MIRROR MOVEMENTS 2, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, WIEDEMANN-STEINER SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, TOOTH AGENESIS, SELECTIVE, 1, WITH OR WITHOUT OROFACIAL CLEFT, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, WEILL-MARCHESANI-LIKE SYNDROME, FACTOR X DEFICIENCY, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LATERAL MENINGOCELE SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, MARFAN LIPODYSTROPHY SYNDROME, RIDDLE SYNDROME, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 9, ANEMIA, SIDEROBLASTIC, 4, FANCONI ANEMIA, COMPLEMENTATION GROUP A, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMBINED FACTOR V AND VIII DEFICIENCY, MELNICK-NEEDLES SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, COLE-CARPENTER SYNDROME 1, WEAVER SYNDROME, ?SPINOCEREBELLAR ATAXIA 26, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, ECTOPIA LENTIS ET PUPILLAE, CORNEAL DYSTROPHY, CONGENITAL STROMAL, PSEUDOHYPOPARATHYROIDISM IA, NEPHROTIC SYNDROME, TYPE 11, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, HEMOPHILIA A, LONG QT SYNDROME 14, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, MYOPATHY, MYOFIBRILLAR, 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NON-IMMUNE HYDROPS FETALIS, EVEN-PLUS SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, KNOBLOCH SYNDROME 1, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, {MELANOMA, CUTANEOUS MALIGNANT, 2}, COMMON VARIABLE IMMUNODEFICIENCY 1, SPINOCEREBELLAR ATAXIA 1, GELEOPHYSIC DYSPLASIA 1, ADRENAL CORTICAL CARCINOMA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, IMMUNODEFICIENCY 23, ALAGILLE SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 3, CORNELIA DE LANGE SYNDROME 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, AORTIC ANEURYSM, FAMILIAL THORACIC 6, DEAFNESS, AUTOSOMAL DOMINANT 20/26, ICHTHYOSIS, X-LINKED, POLYCYSTIC LIVER DISEASE, BLOOM SYNDROME, GELEOPHYSIC DYSPLASIA 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, VON WILLEBRAND DISEASE, PLATELET-TYPE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, HYPOBETALIPOPROTEINEMIA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, SEA-BLUE HISTIOCYTE DISEASE, DIAMOND-BLACKFAN ANEMIA 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}, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, CALCIUM OXALATE UROLITHIASIS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, AMISH INFANTILE EPILEPSY SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1}, COENZYME Q10 DEFICIENCY, PRIMARY, 6, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, WERNER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, METACHROMATIC LEUKODYSTROPHY, CONGENITAL DIAPHRAGMATIC HERNIA, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FRONTOMETAPHYSEAL DYSPLASIA, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OSTEOGENESIS IMPERFECTA, TYPE III, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CHYLOMICRON RETENTION DISEASE, STIFF SKIN SYNDROME, OSSEOUS HETEROPLASIA, PROGRESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, FACTOR VII DEFICIENCY, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, CHIME SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, BURKITT LYMPHOMA, CORNELIA DE LANGE SYNDROME 3, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, PRADER-WILLI SYNDROME, XERODERMA PIGMENTOSUM, GROUP C, OSTEOGENESIS IMPERFECTA, TYPE II, BRACHYDACTYLY, TYPE E2, COMPLEMENT FACTOR D DEFICIENCY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?DYSTONIA, JUVENILE-ONSET, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, HEMOPHILIA B, BERGER DISEASE, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ?ATRIAL FIBRILLATION 15, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SIALIC ACID STORAGE DISORDER, INFANTILE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, MYHRE SYNDROME, ACROMICRIC DYSPLASIA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, CONGENITAL DISORDER OF DEGLYCOSYLATION, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, ?46XY SEX REVERSAL 5, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, EXOSTOSES, MULTIPLE, TYPE 2, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, LYSYL HYDROXYLASE 3 DEFICIENCY, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, MULTIPLE SULFATASE DEFICIENCY, SHORT SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ATELEIOTIC DWARFISM, SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE, BARAITSER-WINTER SYNDROME 2, {NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO}, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SUPRAVALVAR AORTIC STENOSIS, AGAMMAGLOBULINEMIA, X-LINKED 1, PETERS-PLUS SYNDROME, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, {GLIOMA SUSCEPTIBILITY 9}, PSEUDOHYPOPARATHYROIDISM IC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, NOONAN SYNDROME 4, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, {BUDD-CHIARI SYNDROME}, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, CAFFEY DISEASE, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, GM1-GANGLIOSIDOSIS, TYPE I, CORNELIA DE LANGE SYNDROME 4, ALZHEIMER DISEASE-2, OTOPALATODIGITAL SYNDROME, TYPE I, LI-FRAUMENI SYNDROME, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, [SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES], [SKIN/HAIR/EYE PIGMENTATION 1, BLOND/BROWN HAIR], THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, XERODERMA PIGMENTOSUM, TYPE 1, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?MYOFIBROMATOSIS, INFANTILE 2, ECTOPIA LENTIS, FAMILIAL, DEAFNESS, AUTOSOMAL RECESSIVE 24, PCWH SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, INFANTILE MYOFIBROMATOSIS 1, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, PANCREATIC CANCER/MELANOMA SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), LEUKOCYTE ADHESION DEFICIENCY, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, PROPERDIN DEFICIENCY, X-LINKED, TREACHER COLLINS SYNDROME 3, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, GM1-GANGLIOSIDOSIS, TYPE III, NEPHROTIC SYNDROME, TYPE 12, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, SMITH-KINGSMORE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, NONAKA MYOPATHY, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY

CALM1, APOE, RPL5, PGAP1, CAV1, PIGV, APOB, MYC, PIGW, GP1BA, RAD21, ACTB, GNAS, CTSA, MSX1, EFTUD2, SLC35A1, F2, B3GLCT, ALG10, PMM2, MUC5B, MGAT2, NOTCH3, ALG3, PTHLH, IL6, GGCX, CDH1, PROS1, SOX10, B2M, SLC17A5, ARSE, CDKN2A, ALG1, MUC7, DPM2, NGLY1, LMAN1, DES, ALG2, PIGL, ST3GAL5, RPS19, GFI1B, COQ6, ATN1, SMAD4, PIGM, PIGG, RAD51, IKBKAP, RBPJ, PHC1, ERBB2, EIF2B2, SRD5A3, ACAN, STT3A, PIGO, KRAS, ERBB3, CBL, EGFR, DPH1, F9, MPI, P4HB, PIGT, NOS3, CBX2, LRP1, PROC, MTOR, PLOD3, MVD, THSD1, MOGS, ASXL1, ALG11, COL1A2, C3, COL1A1, GFPT1, IFNG, CALR, ESR1, DHDDS, CCND1, MET, ADAMTS10, TAP1, AAAS, CD44, EP300, PRKG1, NUP107, ADAMTS2, SPRY2, ST3GAL3, ACTA2, STS, ALG6, SMC1A, BIN1, ADAMTSL2, INS, MPDU1, SMC3, EZH2, ADAMTS18, PIGR, MAN1B1, BANF1, DPAGT1, DDX3X, CTNNB1, MUC1, IGF1, NUP62, VWF, GALNT3, STAT1, GMPPB, EEF2, NFKB2, ASCC1, COL4A1, BMP2, RDX, HRAS, BRCA1, ITGB2, FN1, MMP2, AXIN1, CFTR, ATXN1, TP53, UBE3A, HLA-C, PGM3, NDN, HNRNPK, ADAMTS13, WRN, NUP93, A2M, AKT1, CSNK1D, JAG1, IL1B, ADAMTS17, HSPA9, ARSA, GNE, SEC24D, XRCC4, XPC, CFP, DDOST, BTK, ITGA6, F5, POLR1C, STAT3, RUNX2, SUMF1, SELP, VKORC1, GLE1, PIGA, FLNA, NGF, PRKCD, PIGC, CHEK2, FBLN1, ACTG1, DPM1, PRKCSH, SEC23A, RFT1, CENPE, ARSB, B4GALT1, NUP155, TGFB1, EXT2, F8, GLB1, NOTCH1, F7, TUSC3, SELE, SOS1, NUP214, RANBP2, BLM, HERC2, MXI1, NPM1, NEU1, GMPPA, DCN, ADAMTSL4, FBN1, APP, POT1, CTCF, GALNT14, SERPINE1, MFAP5, ACTN1, DOLK, DNMT3B, GNRH1, SAR1B, RNF168, ADAM17, HSPG2, TNF, CFD, PDGFB, KDR, F10, DHFR, ALG13, PIGN, PIK3R1

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, ROBINOW-SORAUF SYNDROME, LONG QT SYNDROME 12, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 4A, OTOPALATODIGITAL SYNDROME, TYPE II, SUPRANUCLEAR PALSY, PROGRESSIVE, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?STICKLER SYNDROME, TYPE V, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, MIRROR MOVEMENTS 1, DUCHENNE MUSCULAR DYSTROPHY, SELECTIVE T-CELL DEFECT, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, CLEFT PALATE, ISOLATED, PULMONARY VENOOCCLUSIVE DISEASE 1, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, SPECIFIC GRANULE DEFICIENCY, RETINITIS PIGMENTOSA, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, CARASIL SYNDROME, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, OVARIAN DYSGENESIS 1, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, MULTIPLE SYNOSTOSES SYNDROME 1, HERMANSKY-PUDLAK SYNDROME 1, ?RETINAL ARTERIES, TORTUOSITY OF, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, TRICHOMEGALY, MUIR-TORRE SYNDROME, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, ALAGILLE SYNDROME 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, MACULAR DYSTROPHY, RETINAL, 2, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, ATRIOVENTRICULAR SEPTAL DEFECT 3, CORNELIA DE LANGE SYNDROME 1, BRUGADA SYNDROME 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, ADAMS-OLIVER SYNDROME 3, ATRIAL SEPTAL DEFECT 8, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, VON WILLEBRAND DISEASE, TYPE 1, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, ATRIAL FIBRILLATION, FAMILIAL, 14, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, ?GLYCOPROTEIN IA DEFICIENCY, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, SYNDACTYLY, TYPE III, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, DEAFNESS, AUTOSOMAL RECESSIVE 36, BENIGN FAMILIAL HEMATURIA, IMMUNODEFICIENCY 44, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, FANCONI-BICKEL SYNDROME, SPLIT-HAND/FOOT MALFORMATION 6, FAMILIAL COLORECTAL CANCER, GLAUCOMA 1A, PRIMARY OPEN ANGLE, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, LONG QT SYNDROME 14, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CORNEAL DYSTROPHY, GROENOUW TYPE I, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, MYOPATHY, MYOFIBRILLAR, 5, NEUROFIBROMATOSIS, TYPE 1, ATRIAL FIBRILLATION, FAMILIAL, 6, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, BRACHYDACTYLY, TYPE A1, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, TIMOTHY SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, CORNEAL DYSTROPHY, SCHNYDER TYPE, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, ATRIAL SEPTAL DEFECT 2, LEUKODYSTROPHY, HYPOMYELINATING, 6, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, TRIGONOCEPHALY 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, BRACHYDACTYLY, TYPE A2, MODY, TYPE III, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, SEIZURES, BENIGN NEONATAL, TYPE 2, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, KERATITIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, ABLEPHARON-MACROSTOMIA SYNDROME, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, FRONTONASAL DYSPLASIA 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOPATHY, CENTRONUCLEAR, 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18, TUBEROUS SCLEROSIS-1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, PARKINSON DISEASE 6, EARLY ONSET, BRACHYDACTYLY, TYPE E, MYASTHENIC SYNDROME, CONGENITAL, 16, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, HYPOPLASTIC LEFT HEART SYNDROME 1, ?DYSTONIA 23, NAIL-PATELLA SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IA, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, PEROXISOME BIOGENESIS DISORDER 11B, BARBER-SAY SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, DICARBOXYLIC AMINOACIDURIA, MYOPATHY, DISTAL, TATEYAMA TYPE, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, HOLOPROSENCEPHALY-3, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, DEAFNESS, X-LINKED 2, PLASMA TRIGLYCERIDE LEVEL QTL, LOW, DEAFNESS, X-LINKED 5, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, VENTRICULAR SEPTAL DEFECT 2, RENAL CYSTS AND DIABETES SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, IVIC SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, ABCD SYNDROME, SEGAWA SYNDROME, RECESSIVE, ROUSSY-LEVY SYNDROME, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, DEAFNESS, AUTOSOMAL RECESSIVE 39, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, NOONAN SYNDROME 7, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, OSTEOGENESIS IMPERFECTA, TYPE XV, AGAMMAGLOBULINEMIA 3, CURRARINO SYNDROME, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, 46,XX SEX REVERSAL, TYPE 2, PICK DISEASE, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 11, HOLOPROSENCEPHALY-5, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, CARDIOMYOPATHY, DILATED, 1V, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, PANCREATIC AGENESIS 1, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, CARNEY COMPLEX, TYPE 1, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, WATSON SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, TREACHER COLLINS SYNDROME 2, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, VACTERL ASSOCIATION, X-LINKED, NEUROFIBROMATOSIS-NOONAN SYNDROME, PANHYPOPITUITARISM, X-LINKED, MACHADO-JOSEPH DISEASE, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], LISSENCEPHALY 5, LEOPARD SYNDROME 3, SPHEROCYTOSIS, TYPE 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOPHOSPHATASIA, INFANTILE, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, DEAFNESS, AUTOSOMAL DOMINANT 56, HEPATIC ADENOMA, SOMATIC, STORMORKEN SYNDROME, RETINITIS PIGMENTOSA 35, CORNEAL DYSTROPHY, CONGENITAL STROMAL, GUTTMACHER SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MYXOMA, INTRACARDIAC, OSTEOGENESIS IMPERFECTA, TYPE XVII, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, XERODERMA PIGMENTOSUM, GROUP B, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, WIEDEMANN-STEINER SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, POLYDACTYLY, PREAXIAL, TYPE IV, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ?MORNING GLORY DISC ANOMALY, COLOBOMA OF OPTIC NERVE, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIOMYOPATHY, DILATED, 1NN, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?MULTIPLE SYNOSTOSES SYNDROME 3, OSTEOGENESIS IMPERFECTA, TYPE IV, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, HOLOPROSENCEPHALY-9, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ISCHIOCOXOPODOPATELLAR SYNDROME, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RETICULATE ACROPIGMENTATION OF KITAMURA, CARDIOMYOPATHY, DILATED, 1E, PANCREATIC AND CEREBELLAR AGENESIS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, LIEBENBERG SYNDROME, SPHEROCYTOSIS, TYPE 2, LYMPHEDEMA, HEREDITARY, ID, SPLIT-HAND/FOOT MALFORMATION 1, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, DEAFNESS, AUTOSOMAL DOMINANT 1, VELOCARDIOFACIAL SYNDROME, NOONAN SYNDROME 9, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, ?RENAL HYPODYSPLASIA/APLASIA 2, PRIMARY PULMONARY HYPERTENSION, EPISODIC PAIN SYNDROME, FAMILIAL, 2, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, ?SPINOCEREBELLAR ATAXIA 41, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, TOOTH AGENESIS, SELECTIVE, 7, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, PSEUDOHYPOALDOSTERONISM, TYPE I, ACNE INVERSA, FAMILIAL, 1, RHEUMATOID ARTHRITIS, STRIATONIGRAL DEGENERATION, INFANTILE, ARTHROGRYPOSIS, DISTAL, TYPE 8, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, EPIDERMOLYSIS BULLOSA, PRETIBIAL, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, OTOPALATODIGITAL SYNDROME, TYPE I, ALPHA-METHYLACETOACETIC ACIDURIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, TARSAL-CARPAL COALITION SYNDROME, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, OPSISMODYSPLASIA, MALFORMATION OF THE HEART, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CORNEAL DYSTROPHY, AVELLINO TYPE, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, LEGIUS SYNDROME, METACARPAL 4-5 FUSION, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ADAMS-OLIVER SYNDROME 5, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, DYSTONIA 27, PALLISTER-HALL SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, COMBINED HYPERLIPIDEMIA, FAMILIAL, KNOBLOCH SYNDROME 1, MODY, TYPE II, {H. PYLORI INFECTION, SUSCEPTIBILITY TO}, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, VENTRICULAR SEPTAL DEFECT 3, HYPOPLASTIC LEFT HEART SYNDROME 2, {MELANOMA, CUTANEOUS MALIGNANT, 3}, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, {MELANOMA, CUTANEOUS MALIGNANT, 2}, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, COMMON VARIABLE IMMUNODEFICIENCY 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ADRENAL CORTICAL CARCINOMA, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), SPONDYLOPERIPHERAL DYSPLASIA, POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, APERT SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CAMURATI-ENGELMANN DISEASE, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BECKER MUSCULAR DYSTROPHY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, ALAGILLE SYNDROME, OROFACIAL CLEFT 11, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP D, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, AMYLOIDOSIS, FINNISH TYPE, ATRIAL STANDSTILL 2, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, COLOBOMA, OCULAR, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, RETINITIS PIGMENTOSA 41, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, CEREBELLOFACIODENTAL SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, FEBRILE SEIZURES, FAMILIAL, 3B, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 7, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, BRACHYDACTYLY, TYPE B2, EPITHELIAL RECURRENT EROSION DYSTROPHY, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, POROKERATOSIS 1, MULTIPLE TYPES, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, SECKEL SYNDROME 1, PIEBALDISM, IRIDOGONIODYSGENESIS, TYPE 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, TRANSIENT BULLOUS OF THE NEWBORN, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, PAPILLARY THYROID CARCINOMA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, AVASCULAR NECROSIS OF THE FEMORAL HEAD, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, HYPEREKPLEXIA HEREDITARY, ERYTHROCYTOSIS, FAMILIAL, 3, TUMOR PREDISPOSITION SYNDROME, CAPOS SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, OVARIAN RESPONSE TO FSH STIMULATION, LEGG-CALVE-PERTHES DISEASE, FACTOR XIIIA DEFICIENCY, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, TRANSPOSITION OF GREAT ARTERIES, DEXTRO-LOOPED 3, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPERPARATHYROIDISM, NEONATAL, CARDIOMYOPATHY, DILATED, 1U, AU-KLINE SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 8, RETINITIS PIGMENTOSA 70, IMMUNODEFICIENCY 10, PROTEUS SYNDROME, SOMATIC, BRODY MYOPATHY, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, BARAITSER-WINTER SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, MACULAR DYSTROPHY, PATTERNED, 2, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ?MENTAL RETARDATION, X-LINKED 100, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, HETEROTAXY, VISCERAL, 5, MYOTUBULAR MYOPATHY, X-LINKED, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, FECHTNER SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PORETTI-BOLTSHAUSER SYNDROME, ATRIAL SEPTAL DEFECT 9, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PARIETAL FORAMINA 2, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, DEJERINE-SOTTAS DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, CONGENITAL DIAPHRAGMATIC HERNIA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, LOEYS-DIETZ SYNDROME 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PITUITARY HORMONE DEFICIENCY, COMBINED, 6, IMMUNODEFICIENCY 43, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, SADDAN, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, PRION DISEASE WITH PROTRACTED COURSE, TOENAIL DYSTROPHY, ISOLATED, CZECH DYSPLASIA, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SPINOCEREBELLAR ATAXIA 21, PULMONARY HYPERTENSION, PRIMARY, 3, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP A, PAROXYSMAL EXTREME PAIN DISORDER, ALPORT SYNDROME, AUTOSOMAL DOMINANT, CARDIOMYOPATHY, DILATED, 1HH, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, OSTEOGENESIS IMPERFECTA, TYPE III, CEREBROOCULOFACIOSKELETAL SYNDROME 3, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPLENIC HYPOPLASIA, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, LIDDLE SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, HYPERPROINSULINEMIA, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, EBD, BART TYPE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CENTRONUCLEAR MYOPATHY 5, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, SICK SINUS SYNDROME 1, HAND-FOOT-UTERUS SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PITT-HOPKINS SYNDROME, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPOPHOSPHATEMIC RICKETS, AR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, BETHLEM MYOPATHY 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, ECTOPIA LENTIS, FAMILIAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ACHONDROPLASIA, DEAFNESS, AUTOSOMAL RECESSIVE 89, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, {KURU, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, STIFF SKIN SYNDROME, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, CRANIOSYNOSTOSIS 3, EPISODIC ATAXIA, TYPE 6, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, ATRIAL SEPTAL DEFECT 5, MULTIPLE ENDOCRINE NEOPLASIA IIA, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, INFANTILE MYOFIBROMATOSIS 1, ECTOPIA LENTIS ET PUPILLAE, LEFT VENTRICULAR NONCOMPACTION 7, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, BRACHYDACTYLY, TYPE E2, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, DEAFNESS, AUTOSOMAL DOMINANT 20/26, VISCERAL MYOPATHY, DEAFNESS, AUTOSOMAL RECESSIVE 35, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, AXENFELD-RIEGER SYNDROME, TYPE 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MEGALOCORNEA 1, X-LINKED, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MYOTONIC DYSTROPHY 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, TANGIER DISEASE, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, EPIDERMOLYSIS BULLOSA PRURIGINOSA, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32, NASU-HAKOLA DISEASE, ?IMMUNODEFICIENCY 13, PITUITARY ADENOMA, PROLACTIN-SECRETING, HOLOPROSENCEPHALY-7, PLASMA FIBRONECTIN DEFICIENCY, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, {SPINA BIFIDA, SUSCEPTIBILITY TO}, NEURAL TUBE DEFECTS, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, KOSAKI OVERGROWTH SYNDROME, PARAMYOTONIA CONGENITA, OPITZ-KAVEGGIA SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, HETEROTAXY, VISCERAL, 2, AUTOSOMAL, AGAMMAGLOBULINEMIA 4, HOLOPROSENCEPHALY 11, ?CATARACT 30, PULVERULENT, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, PANCREATIC CANCER/MELANOMA SYNDROME, MAY-HEGGLIN ANOMALY, MARFAN LIPODYSTROPHY SYNDROME, PANCREATIC AGENESIS 2, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, CATARACT 6, MULTIPLE TYPES, BRACHYDACTYLY, TYPE A1, D, SMED STRUDWICK TYPE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, STICKLER SYNDROME, TYPE I, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, PORENCEPHALY 2, ATRIOVENTRICULAR SEPTAL DEFECT 5, TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, RENAL ADYSPLASIA, ACROMICRIC DYSPLASIA, ERYTHROCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, FEINGOLD SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, OHDO SYNDROME, X-LINKED, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, MOHR-TRANEBJAERG SYNDROME, SPERMATOGENIC FAILURE 8, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, LONG QT SYNDROME-3, WAARDENBURG SYNDROME, TYPE 2D, RING DERMOID OF CORNEA, MASA SYNDROME, CRASH SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, BRACHYDACTYLY, TYPE D, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, PREMATURE AGING SYNDROME, PENTTINEN TYPE, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, EPISODIC ATAXIA, TYPE 5, THANATOPHORIC DYSPLASIA, TYPE II, HYPERPARATHYROIDISM 1, ?OSTEOPOROSIS, INVOLUTIONAL,; {OSTEOPOROSIS},; {OSTEOPOROSIS, SUSCEPTIBILITY TO},; {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY},; {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS},; {OSTEOPOROSIS, POSTMENOPAUSAL}, SPINOCEREBELLAR ATAXIA 5, DIGEORGE SYNDROME, FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, IMMUNODEFICIENCY 21, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA WITH COLOBOMA 5, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CONE-ROD DYSTROPHY 2, CULLER-JONES SYNDROME, GLUCOCORTICOID RESISTANCE, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, BARAITSER-WINTER SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, EPISODIC PAIN SYNDROME, FAMILIAL, 3, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, GILLESPIE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MYOPATHY, TUBULAR AGGREGATE, 1, ACNE INVERSA, FAMILIAL, 2, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SUPRAVALVAR AORTIC STENOSIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, MENTAL RETARDATION, X-LINKED 99, ACNE INVERSA, FAMILIAL, 3, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DUANE-RADIAL RAY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, EPILEPSY, FAMILIAL TEMPORAL LOBE, 1, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SMITH-LEMLI-OPITZ SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, COLE-CARPENTER SYNDROME 1, HUNTINGTON DISEASE, MODY, TYPE I, GLIOMA SUSCEPTIBILITY 1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, ATRIAL FIBRILLATION, FAMILIAL, 7, SPHEROCYTOSIS, TYPE 3, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, ATRIAL FIBRILLATION, FAMILIAL, 13, TATTON-BROWN-RAHMAN SYNDROME, ?FIBROMATOSIS, GINGIVAL, 1, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PERRY SYNDROME, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, RUBINSTEIN-TAYBI SYNDROME, RIGHT ATRIAL ISOMERISM, PREMATURE OVARIAN FAILURE 7, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PYRUVATE KINASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, LUJAN-FRYNS SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, CATSHL SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 4, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, LYNCH SYNDROME I, JACKSON-WEISS SYNDROME, MIRROR MOVEMENTS 2, DYSTONIA-12, ARTHROGRYPOSIS, DISTAL, TYPE 2A, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], SYNDACTYLY, TYPE V, WAARDENBURG SYNDROME, TYPE 3, MAST CELL DISEASE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, BRUGADA SYNDROME 7, ATRIAL FIBRILLATION, FAMILIAL, 16, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, HEREDITARY PYROPOIKILOCYTOSIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, CAFFEY DISEASE, OSTEOGLOPHONIC DYSPLASIA, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2, HETEROTOPIA, PERIVENTRICULAR, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, ?BARDET-BIEDL SYNDROME 11, THROMBOCYTHEMIA 3, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, CHOREA, HEREDITARY BENIGN, HEMOCHROMATOSIS, TYPE 2A, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, HUNTINGTON DISEASE-LIKE 1, WHIM SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, CORPUS CALLOSUM, PARTIAL AGENESIS OF, LI-FRAUMENI SYNDROME, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, RETINITIS PIGMENTOSA 13, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?MYOSCLEROSIS, CONGENITAL, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, OPTIC NERVE HYPOPLASIA, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, MYHRE SYNDROME, MACROCEPHALY/AUTISM SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, NEUROFIBROMATOSIS, TYPE 2, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, SVEINSSON CHOREORETINAL ATROPHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, CALCIUM OXALATE UROLITHIASIS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, PULMONARY HYPERTENSION, PRIMARY, 2, IMMUNODEFICIENCY 8, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, PCWH SYNDROME, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LISSENCEPHALY 3, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WAGNER SYNDROME 1, CONE-ROD DYSTROPHY 10, MYOPATHY, MYOFIBRILLAR, 6, RENPENNING SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, ELLIPTOCYTOSIS-2, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 2, FEBRILE SEIZURES, FAMILIAL, 3A, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, LEUKOCYTE ADHESION DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, 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, WEAVER SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CRANIOSYNOSTOSIS, TYPE 1, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, SYNPOLYDACTYLY, TYPE II, SYNPOLYDACTYLY WITH FOOT ANOMALIES, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, THROMBOCYTOPENIA 4, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, UTERINE LEIOMYOMA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, TIETZ ALBINISM-DEAFNESS SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MENTAL RETARDATION, X-LINKED 90, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, WISKOTT-ALDRICH SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, LIPOID ADRENAL HYPERPLASIA, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SPINOCEREBELLAR ATAXIA 42, IMMUNODEFICIENCY 46, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HERMANSKY-PUDLAK SYNDROME 7, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, CORNELIA DE LANGE SYNDROME 2, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ATRIAL FIBRILLATION, FAMILIAL, 10, SMITH-KINGSMORE SYNDROME, LEUKEMIA, CHRONIC MYELOID, SOMATIC, HEMOCHROMATOSIS, TYPE 2B, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

TCF12, CALM1, LRPAP1, LAMB1, FGFR1, HSPB1, SLC34A1, RTN4R, PKD1, CUL3, CIITA, GLI3, COL3A1, ATP6V1B1, SOX2, SCN10A, PAFAH1B1, TRIP4, B2M, AKT2, NOG, EGR2, EPHA2, PEX13, RAB7A, ADRB2, CSF2RB, NCF4, POR, ATN1, ACTC1, CREBBP, STXBP1, NF2, SCN4A, F13A1, KL, APOA1, FSHR, PAX4, AR, P4HB, CD79A, GNAS, SCN2A, GNB3, DAG1, GDNF, MTOR, LAMA1, BLK, HMGA1, LEP, BMPR1A, CITED2, PAX7, AIFM1, TUBB2B, NCSTN, CCND1, JAK2, ANK1, SPARC, AP1S2, HNF4A, MIB1, CNTN5, VEGFC, T, HIP1, KRAS, LPP, GPD1, ADRB3, DUSP6, DNMT3A, TNC, ACVR1B, TBX1, CAV3, MPZ, HFE2, CTNNB1, IL2RA, GRIN2A, HNF1B, AP4M1, SMAD4, TAF1, PSEN2, CTDP1, PCK1, PQBP1, NUP62, PPP2R1A, HES7, AKT1, KAT5, AIP, SEMA4A, KCNA2, KCNQ3, DIAPH1, PINK1, HGF, UNC119, TWIST1, CSNK1D, IL1B, EFNB1, DMP1, HAMP, IL17RD, COL6A3, PTPRZ1, AURKA, AQP5, TUBG1, NOTCH1, UBE2A, PIK3R2, COL5A2, CXCR4, SOS2, GATA4, MAP3K8, SPRY4, STAT3, SCRIB, FLT3, PTPN11, COL6A1, CTCF, LPL, RASA1, BRAF, COL4A3, PAK3, ANK3, BDNF, CALR, TBP, CD36, EPS8, ATXN3, POLR3B, PNPLA2, NR3C1, SPTB, PAX8, ACE, FGF5, WNT10B, CTNNA1, TRIM32, ARHGDIA, KMT2A, MMP1, ACTB, SEMA3E, PIK3CA, PSEN1, GFAP, ASCC1, CDK4, ITGA8, HNRNPK, FGA, UBB, MYO1E, COL4A5, SPTAN1, BMPER, CYCS, TGFBI, CDC73, GFI1B, CACNB4, FGG, MITF, PSENEN, CAPN3, EPHB2, NKX2-1, IL2RG, RYR2, SF3B4, TGFBR2, COL9A1, ANGPTL4, SHOC2, BLMH, SCN11A, HOXB1, SCN1B, NPPA, CYP7B1, NME1, ACTN1, IL12B, FGB, PKLR, ATP2A1, ERCC3, CBS, NPM1, PITX1, MEF2C, NR2F2, HOXA13, CFL2, VCAN, SNRNP200, RASSF1, PRKACG, PTH, SPRED1, SOX9, PRKG1, BAP1, GDF1, SDC3, FGF23, GPHN, ADD1, DMD, MC4R, NCF1, STIM1, COL18A1, ALPL, SLC2A2, BLNK, IGF1, TREM2, TUBA1A, FLT4, SMAD9, MEF2A, NEUROD1, NFKB2, COL4A4, TNFAIP3, BMP2, EDNRB, SMC1A, SCN4B, PLEC, VDR, ASCL1, FIBP, POLR2F, ERBB3, TP53, EGFR, LRP2, IKBKB, TWIST2, MAPK8IP1, SNCA, KCNQ2, AKAP9, ERBB4, PTPRJ, KIF4A, ESRRB, TUBB4A, KIT, BCR, SCYL1, AGPAT2, USH2A, COL6A2, DLG3, ZAP70, KRT8, NODAL, PPP2R5D, FBLN1, ACTG1, NR5A1, ITGB4, PIP5K1C, DVL1, SPEG, STAT1, APPL1, TSC1, TUBA4A, CACNA1C, IGF1R, NOS3, SLC2A4, KARS, LGI1, ACTN4, IL6, PIK3R1, PHB, DCN, ADAMTSL4, ATP1A3, CEBPE, AP2S1, UBIAD1, SMAD3, HSPG2, TNF, ESR1, DDX58, CFC1, SERPINE1, POU3F4, PDX1, STAR, PDE4D, F2, SPTA1, MED13L, SCNN1A, IGBP1, TBX19, EFTUD2, MAG, AGT, CDK5, UBQLN2, ESPN, CDH1, WNT5A, PLAU, FGF17, EGLN1, IL10, FGF3, SALL4, SIM1, COL1A1, COL10A1, CACNA1B, WNT1, JAG1, TEK, TBK1, GRID2, COL2A1, RBPJ, NF1, ACTA1, DNM1, GRIP1, SMARCA4, RUNX1, CBL, RB1CC1, MYH14, STUB1, SMARCE1, IGF2, NOTCH2, PTF1A, MYF6, CAD, MYD88, GATA2, KIF5A, SOX3, CHRDL1, NTRK1, COL1A2, ITGA2, DCX, PLOD3, PSMB8, ITGA6, MET, NFKBIA, CACNB2, POLR1D, CD44, FOXO1, ERCC5, RUNX2, TNFRSF1A, SPRY2, PTPN1, GSC, IRF8, BIN1, PMVK, RPS6KA3, WAS, ALX4, INS, CDON, EZH2, SCN2B, COL7A1, KCNA5, ITGB3, ACAT1, ITPR1, PITX3, PAX2, LMX1B, HLA-DRB1, YAP1, SYN1, CNTN1, SNTA1, VHL, USP9X, GRIN2B, RDX, BRCA1, ITGB2, PTHLH, FN1, TUBB3, TYROBP, FOXC2, MNX1, FBN1, RAF1, DCTN1, IHH, SCN1A, ITGA2B, RHO, SYNGAP1, HNF1A, MYC, ATIC, AQP2, STX1B, FGFR3, PAX3, SLC9A3R1, GSN, STAT2, SOX10, RBP4, SCN3B, NRAS, IRS1, CORO1A, PRKCD, NOS2, TLR4, CSF1R, MMP2, MED25, JAK3, PRPF4, GFRA1, MYH9, FGF10, TGFB1, ERCC4, ACVR1, KITLG, TCF4, SOS1, SCN5A, MED23, FGF16, TIMM8A, SLC1A1, FOXD3, GATA6, CACNA1S, LAMTOR2, APP, SEMA3A, HRAS, IRS2, ACTN2, OCLN, HTRA1, BAG3, TINF2, PTPRF, CASK, PDGFB, DLL4, CAV1, NFKB1, POLR1A, PRPF8, FGFR4, CNBP, PABPN1, DNM2, ROBO3, COL9A2, MAPT, TUBB1, SLC1A3, PPARG, COL5A1, OTX2, PRKAR1A, NEUROG3, EIF2B2, BTK, PLG, CDKN2A, BMP4, CLASP1, VIM, SCN8A, TFRC, ERCC2, SNAI2, PDGFRB, HOXD13, EMD, CNTNAP1, COL9A3, ERBB2, PTCH1, SMARCA2, APOA2, VWF, GLI2, PAX6, NKX2-5, TCF7L2, ZHX2, LRP1, CACNA1D, SCNN1G, LHX3, MECOM, HLA-DQA1, HS6ST1, AGRN, PROM1, HTT, ZIC3, COL4A2, TGFBR1, EP300, HDAC6, RAD51, CEBPA, PCBD1, PCNA, GLUD1, DTNBP1, PTPRC, LRP6, PITX2, BMPR2, PLIN1, EDN1, FLNC, KCNJ11, CACNA1G, GJA1, WNT7A, MYH3, COL4A1, ZIC2, COL17A1, TEAD1, CASR, MYOC, GCK, FGF20, TH, CCND2, CNTN2, TUBB2A, PRKDC, MRPL3, PLK4, VCP, TRPC3, MED12, NEFL, MED17, MPDZ, MAP2K2, ITCH, DNMT3B, MUSK, ITPR3, FGF9, SHANK3, INPPL1, DLX5, NR2F1, SUMF1, LCK, FLNA, MYH11, NGF, LYZ, BMPR1B, DHCR7, PRNP, ATM, BRF1, TBX4, DISC1, PRKACA, GATA5, INSR, POMC, AKT3, SCN9A, MSH2, FGFR2, PLCG2, CDKN1B, MYCN, PDGFRA, PTPN12, L1CAM, RET, SPTBN2, PTEN, PPP2R1B, DCC, FASLG, IFT80, GNRH1, SELP, NR0B2, ADAM10, ATR, ANK2, GCGR, KDR, RYR1, SHH

?GLYCOGEN STORAGE DISEASE XV, GLYCOGEN STORAGE DISEASE IV, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, ?SPINOCEREBELLAR ATAXIA 26, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PEPCK DEFICIENCY, MITOCHONDRIAL, GLYCOGEN STORAGE DISEASE X, POLYGLUCOSAN BODY DISEASE, ADULT FORM, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, CLEFT PALATE, ISOLATED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, MODY, TYPE II, GLYCOGEN STORAGE DISEASE VI, HYPERPROINSULINEMIA, POLYGLUCOSAN BODY MYOPATHY 2, GLYCOGEN STORAGE DISEASE II, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, FRUCTOSE INTOLERANCE, LONG QT SYNDROME 15, GLYCOGEN STORAGE DISEASE IXC, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, PYRUVATE KINASE DEFICIENCY, MUSCLE GLYCOGENOSIS, GLUCOCORTICOID RESISTANCE, GLYCOGEN STORAGE DISEASE 0, LIVER, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYHRE SYNDROME, MCARDLE DISEASE, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 8, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, LONG QT SYNDROME 14, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CITRULLINEMIA, ADULT-ONSET TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, HUNTINGTON DISEASE, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, GLYCOGEN STORAGE DISEASE 0, MUSCLE, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, OPSISMODYSPLASIA, GLYCOGEN STORAGE DISEASE XII, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, GLYCOGEN STORAGE DISEASE VII, HYPOMYELINATION, GLOBAL CEREBRAL, ?GLYCOGEN STORAGE DISEASE XIII, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY

CALM1, NCF1, TUBG1, ALDOA, CORO1A, AGL, GBE1, ALDOB, PHKB, PPP2R5D, PRKACA, SMAD4, PHKA2, PYGM, PGAM2, ENO3, PHKG2, PYGL, PKLR, PGK1, EEF2, PCK1, GPI, PRKACG, NHLRC1, PPP2R1A, PGM1, NR3C1, GYG1, SLC25A1, INPPL1, UBB, EPM2A, LIPE, GYS1, HTT, FBP1, PFKM, PHKA1, PCK2, GYS2, HK1, PPP2R1B, SLC25A13, SLC25A12, TPI1, GAA, SPATA5, INS, PC, GCK

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3}, ATROPHODERMA VERMICULATUM, CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, CZECH DYSPLASIA, ?STICKLER SYNDROME, TYPE V, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, ECTOPIA LENTIS, FAMILIAL, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, EPIDERMOLYSIS BULLOSA PRURIGINOSA, STICKLER SYNDROME, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 19, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PORENCEPHALY 1, EBD, BART TYPE, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, PSEUDOACHONDROPLASIA, ?RETINAL ARTERIES, TORTUOSITY OF, CORNEAL DYSTROPHY, CONGENITAL STROMAL, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, TOENAIL DYSTROPHY, ISOLATED, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, OSTEOGENESIS IMPERFECTA, TYPE IV, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, 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, AORTIC ANEURYSM, FAMILIAL THORACIC 9, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, ?GLYCOPROTEIN IA DEFICIENCY, DYSTONIA 27, EHLERS-DANLOS SYNDROME, TYPE 3, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, BENIGN FAMILIAL HEMATURIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, FUHRMANN SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EPIDERMOLYSIS BULLOSA, PRETIBIAL, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, BETHLEM MYOPATHY 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BLEEDING DISORDER, PLATELET-TYPE, 17, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, SPLIT-HAND/FOOT MALFORMATION 1, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOGENESIS IMPERFECTA, TYPE I, CAFFEY DISEASE, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 56, ?DEAFNESS, X-LINKED 6, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, KNOBLOCH SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, OSTEOGENESIS IMPERFECTA, TYPE II, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, SPONDYLOPERIPHERAL DYSPLASIA, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, AVASCULAR NECROSIS OF THE FEMORAL HEAD, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, 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}, DEAFNESS, AUTOSOMAL RECESSIVE 24, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PLASMA FIBRONECTIN DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE IV, ALPORT SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, GELEOPHYSIC DYSPLASIA 2, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, TRANSIENT BULLOUS OF THE NEWBORN, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, PORENCEPHALY 2, GLANZMANN THROMBASTHENIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, RENAL ADYSPLASIA, PORETTI-BOLTSHAUSER SYNDROME, ACROMICRIC DYSPLASIA, HYPOBETALIPOPROTEINEMIA, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, AMELOGENESIS IMPERFECTA, TYPE IH, MARFAN LIPODYSTROPHY SYNDROME, LEGG-CALVE-PERTHES DISEASE, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, WEILL-MARCHESANI SYNDROME 2, DOMINANT, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CD44, APOB, COL18A1, MMP2, JAM3, ITGA8, WNT7A, COL1A1, DLX5, COL5A2, COL4A6, FGB, TGFB1, VWF, COL3A1, ITGB6, ITGB3, LRP1, COL6A1, TNF, COL4A2, LAMA1, COL4A4, COL7A1, RDX, NOS3, ITGA2, ITGB2, ITGA2B, FN1, AGRN, CALR, FGA, COL6A2, ITGA6, COL4A3, COMP, ITGA3, COL6A3, DCN, COL4A1, FBN1, COL10A1, KDR, F2, COL5A1, CDH1, MFAP5, COL1A2, FASLG, ITGA7, DAG1, GFI1B, FGG, RUNX2, SELP, COL9A2, COL8A2, HSPG2, COL13A1, COL9A1, LYZ, COL9A3, TNC, COL4A5, COL2A1, ANXA5

ATRIOVENTRICULAR SEPTAL DEFECT 4, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, PREMATURE OVARIAN FAILURE 7, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, KLEEFSTRA SYNDROME, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, GLAUCOMA 1, OPEN ANGLE, E, VITAMIN D-DEPENDENT RICKETS, TYPE I, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HYPERPROINSULINEMIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GHOSAL HEMATODIAPHYSEAL SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, QUESTION MARK EARS, ISOLATED, ?THROMBOXANE SYNTHASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, GLUCOCORTICOID RESISTANCE, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, SPERMATOGENIC FAILURE 8, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, DEAFNESS, AUTOSOMAL RECESSIVE 39, FOCAL FACIAL DERMAL DYSPLASIA 4, SHORT SYNDROME, HYPERCALCEMIA, INFANTILE, ATRIAL SEPTAL DEFECT 2, GLAUCOMA 1A, PRIMARY OPEN ANGLE, DIAMOND-BLACKFAN ANEMIA 6, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, LONG QT SYNDROME 14, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, ESTROGEN RESISTANCE, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, HYPOPARATHYROIDISM FAMILIAL ISOLATED, 46XY SEX REVERSAL 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, FLOATING-HARBOR SYNDROME, BURKITT LYMPHOMA, LATHOSTEROLOSIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, TUBEROUS SCLEROSIS 2, MEPHENYTOIN POOR METABOLIZER, PROGUANIL POOR METABOLIZER, OMEPRAZOLE POOR METABOLIZER, CLOPIDOGREL, IMPAIRED RESPONSIVENESS TO, AURICULOCONDYLAR SYNDROME 3, VENTRICULAR SEPTAL DEFECT 1, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, AROMATASE EXCESS SYNDROME, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, 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, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, IMMUNODEFICIENCY 36, CEREBROTENDINOUS XANTHOMATOSIS, PROTEUS SYNDROME, SOMATIC

CALM1, NDUFS3, CYP2C9, MYC, CYP2C19, NR3C1, CYP19A1, NR5A1, SC5D, CBS, CYP27A1, SRCAP, CYP27B1, CYP26C1, RPL5, CYP11B2, NR1I3, CYP3A5, POMC, LEP, NOS3, EDN1, CYP2R1, CYP2U1, VDR, IL6, PTH, IFNG, CYP1B1, GATA4, CYP4F22, INS, HGF, AKT1, TBXAS1, CYP11B1, PTGIS, POR, GNRH1, CYP21A2, CYP7B1, CYP2D6, CYP24A1, ESR1, CYP2A6, CYP17A1, NR2F1, PIK3R1

CORNEAL DYSTROPHY, LATTICE TYPE I, MACULAR DEGENERATION, EARLY-ONSET, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MICROPHTHALMIA, SYNDROMIC 6, ECTOPIA LENTIS, FAMILIAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CAMURATI-ENGELMANN DISEASE, MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, WAARDENBURG SYNDROME, TYPE 2D, SUPRAVALVAR AORTIC STENOSIS, AORTIC ANEURYSM, FAMILIAL THORACIC 9, LOEYS-DIETZ SYNDROME 2, CORNEAL DYSTROPHY, CONGENITAL STROMAL, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, LYMPHEDEMA, HEREDITARY, IA, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, {EXFOLIATION SYNDROME, SUSCEPTIBILITY TO}, BRACHYDACTYLY, TYPE C, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, ADAMS-OLIVER SYNDROME 5, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, OSTEOGENESIS IMPERFECTA, TYPE IV, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DU PAN SYNDROME, CUTIS LAXA, AD, ESSENTIAL HYPERTENSION, EHLERS-DANLOS SYNDROME, TYPE 3, BRACHYDACTYLY, TYPE A1, C, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, MULTIPLE SYNOSTOSES SYNDROME 2, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, STIFF SKIN SYNDROME, BURKITT LYMPHOMA, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, MALFORMATION OF THE HEART, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOGENESIS IMPERFECTA, TYPE I, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, CAFFEY DISEASE, SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, AMELOGENESIS IMPERFECTA, TYPE IH, MARFAN LIPODYSTROPHY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, ALAGILLE SYNDROME, DENTAL ANOMALIES AND SHORT STATURE, BRACHYDACTYLY, TYPE A2, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, DOYNE HONEYCOMB DEGENERATION OF RETINA, OROFACIAL CLEFT 11, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HEMOCHROMATOSIS TYPE 1, PLASMA FIBRONECTIN DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 17, LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, GLAUCOMA 1, OPEN ANGLE, E, IMAGE SYNDROME, CORNEAL DYSTROPHY, GROENOUW TYPE I, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, PIEBALDISM, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BRACHYDACTYLY, TYPE A1, D, CORNEAL DYSTROPHY, AVELLINO TYPE, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, RENAL ADYSPLASIA, ACROMICRIC DYSPLASIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, QUEBEC PLATELET DISORDER, CHONDRODYSPLASIA, GREBE TYPE, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4

GDF5, ACAN, ITGA8, MYC, FBLN1, EFEMP1, FLT4, TGFB1, NOTCH1, ITGB6, TGFB3, TGFB2, AGT, TGFBI, SNAI2, COL1A1, LEMD3, LTBP2, ATN1, CDH1, BMP2, FBLN5, CCND1, NR0B1, EGFR, DCN, FBN1, ELN, TGFBR1, COL1A2, LOXL1, FBN2, UBQLN2, BMP4, LTBP4, CDKN1C, BMPER, JAG1, GFI1B, RUNX2, SMAD4, LTBP3, BMPR1B, ACVR1, ITGB3, EFEMP2, KDR, MFAP5, IGF1, FN1, TGFBR2, PLAU

RETINITIS PIGMENTOSA-40, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), JOUBERT SYNDROME 9, NEPHRONOPHTHISIS 18, HERMANSKY-PUDLAK SYNDROME 1, RETINITIS PIGMENTOSA, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, DYSAUTONOMIA, FAMILIAL, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, MANDIBULOACRAL DYSPLASIA, CARDIOMYOPATHY, DILATED, 1E, RENAL TUBULAR DYSGENESIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, BRUGADA SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, INCONTINENTIA PIGMENTI, HYPERPROINSULINEMIA, SECKEL SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, HYPERCHLORHIDROSIS, ISOLATED, ?SECKEL SYNDROME 4, JOUBERT SYNDROME 6, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, PEUTZ-JEGHERS SYNDROME, ?OPTIC ATROPHY 9, CATARACT 16, MULTIPLE TYPES, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, JOUBERT SYNDROME 15, LONG QT SYNDROME 15, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, MYOPATHY, MYOFIBRILLAR, 5, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, JOUBERT SYNDROME 24, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, KLEEFSTRA SYNDROME, ?JOUBERT SYNDROME 22, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, HYPOSPADIAS 1, X-LINKED, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 6, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, 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}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, BARDET-BIEDL SYNDROME 17, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, RETINITIS PIGMENTOSA 45, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, LEUKODYSTROPHY, HYPOMYELINATING, 10, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, CARDIOMYOPATHY, DILATED, 1A, JOUBERT SYNDROME 13, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, XERODERMA PIGMENTOSUM, VARIANT TYPE, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, ?CRANIOECTODERMAL DYSPLASIA 4, SPINOCEREBELLAR ATAXIA 11, CONE-ROD DYSTROPHY, X-LINKED, 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ANEMIA, SIDEROBLASTIC, 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, ?RETINITIS PIGMENTOSA 67, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ?SECKEL SYNDROME 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, MECKEL SYNDROME 2, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, ?SPINOCEREBELLAR ATAXIA 26, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), SPHEROCYTOSIS, TYPE 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, RETINITIS PIGMENTOSA 58, POLYDACTYLY, PREAXIAL, TYPE IV, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, OROFACIODIGITAL SYNDROME IV, ATAXIA-TELANGIECTASIA, ?PERRAULT SYNDROME 2, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, NOONAN SYNDROME 9, EPISODIC PAIN SYNDROME, FAMILIAL, 2, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, MALOUF SYNDROME, EPIDERMAL NEVUS, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, JOUBERT SYNDROME 10, NEPHRONOPHTHISIS 1, JUVENILE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, COACH SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, QUESTION MARK EARS, ISOLATED, EVEN-PLUS SYNDROME, ?MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2, DUCHENNE MUSCULAR DYSTROPHY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, {MELANOMA, CUTANEOUS MALIGNANT, 2}, NEPHROTIC SYNDROME, TYPE 1, MECKEL SYNDROME 1, MECKEL SYNDROME 7, ADRENAL CORTICAL CARCINOMA, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), POLYDACTYLY, POSTAXIAL, TYPES A1 AND B, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MECKEL SYNDROME 3, ?MYASTHENIC SYNDROME, CONGENITAL, 18, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BECKER MUSCULAR DYSTROPHY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, DEAFNESS, AUTOSOMAL RECESSIVE 89, SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY, MACULAR DEGENERATION, X-LINKED ATROPHIC, CHEDIAK-HIGASHI SYNDROME, BARDET-BIEDL SYNDROME 5, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, ERYTHROCYTOSIS, FAMILIAL, 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, RETINITIS PIGMENTOSA 11, JOUBERT SYNDROME 5, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, ?RETINITIS PIGMENTOSA 51, SENIOR-LOKEN SYNDROME 9, HEART-HAND SYNDROME, SLOVENIAN TYPE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, ACROKERATOSIS VERRUCIFORMIS, HERMANSKY-PUDLAK SYNDROME 7, BARDET-BIEDL SYNDROME 10, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, SENIOR-LOKEN SYNDROME 4, MENTAL RETARDATION, X-LINKED 102, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, RETINITIS PIGMENTOSA 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), BARDET-BIEDL SYNDROME 13, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, ?BARDET-BIEDL SYNDROME 19, SENIOR-LOKEN SYNDROME 5, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, NEPHRONOPHTHISIS 2, INFANTILE, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC 6, NEPHRONOPHTHISIS 12, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, BARDET-BIEDL SYNDROME 7, FAMILIAL COLORECTAL CANCER, MECKEL SYNDROME 10, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, LOEYS-DIETZ SYNDROME 3, SICK SINUS SYNDROME 1, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MECKEL SYNDROME 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, SENIOR-LOKEN SYNDROME 6, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CHOROID PLEXUS PAPILLOMA, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, CRANIOECTODERMAL DYSPLASIA 1, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, CORNELIA DE LANGE SYNDROME 3, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, NEPHRONOPHTHISIS 3, OCULOECTODERMAL SYNDROME, COFFIN-SIRIS SYNDROME 4, ?DYSTONIA, JUVENILE-ONSET, ALCOHOL DEPENDENCE, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, SMALL CELL CANCER OF THE LUNG, SOMATIC, MYOTONIC DYSTROPHY 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, JOUBERT SYNDROME 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, JOUBERT SYNDROME-3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, [PREMATURE CHROMATID SEPARATION TRAIT], NEPHRONOPHTHISIS 15, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MCKUSICK-KAUFMAN SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARDET-BIEDL SYNDROME 2, INFANTILE CEREBELLAR-RETINAL DEGENERATION, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, MYHRE SYNDROME, LISSENCEPHALY 4 (WITH MICROCEPHALY), ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, OROFACIODIGITAL SYNDROME I, ?MECKEL SYNDROME 8, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, LONG QT SYNDROME-3, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RETINITIS PIGMENTOSA 71, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, WOLFF-PARKINSON-WHITE SYNDROME, RITSCHER-SCHINZEL SYNDROME 2, ALSTROM SYNDROME, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, ?OROFACIODIGITAL SYNDROME XIV, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, BARDET-BIEDL SYNDROME 6, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, GRISCELLI SYNDROME, TYPE 1, HUTCHINSON-GILFORD PROGERIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, SENIOR-LOKEN SYNDROME 8, BARDET-BIEDL SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, SPINOCEREBELLAR ATAXIA 28, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, AURICULOCONDYLAR SYNDROME 3, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, THYROID HORMONE RESISTANCE, RUBINSTEIN-TAYBI SYNDROME, BARDET-BIEDL SYNDROME 16, {MACULAR DEGENERATION, AGE-RELATED, 2}, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLIOMA SUSCEPTIBILITY 1, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, BARDET-BIEDL SYNDROME 8, BARDET-BIEDL SYNDROME 4, PERRY SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PITUITARY DEPENDENT HYPERCORTISOLISM, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 36, ?MECKEL SYNDROME 9, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ADAMS-OLIVER SYNDROME 3, JOUBERT SYNDROME 2, CITRULLINEMIA, ADULT-ONSET TYPE II, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), ACHONDROGENESIS, TYPE IA, GALACTOSIALIDOSIS, ?MICROHYDRANENCEPHALY, CORPUS CALLOSUM AGENESIS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, NEPHRONOPHTHISIS 13, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2, MENTAL RETARDATION, X-LINKED 41, SENIOR-LOKEN SYNDROME-1, ?BARDET-BIEDL SYNDROME 18, IMMUNODEFICIENCY 33, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BARDET-BIEDL SYNDROME 12, LI-FRAUMENI SYNDROME, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, SECKEL SYNDROME 5, RESTRICTIVE DERMOPATHY, LETHAL, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, CRANIOECTODERMAL DYSPLASIA 3, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), JOUBERT SYNDROME 8, PERRAULT SYNDROME 5, DARIER DISEASE, IMMUNODEFICIENCY 8, {PARKINSON DISEASE 18}, JOUBERT SYNDROME 7, NEPHRONOPHTHISIS 4, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, CRANIOECTODERMAL DYSPLASIA 2, BLEEDING DISORDER, PLATELET-TYPE, 17, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LISSENCEPHALY 3, ?PRECOCIOUS PUBERTY, CENTRAL, 1, RETINITIS PIGMENTOSA 74, NEPHRONOPHTHISIS 11, PANCREATIC CANCER/MELANOMA SYNDROME, MECKEL SYNDROME 5, ANDROGEN INSENSITIVITY, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, THROMBOCYTOPENIA 4, ?RETINITIS PIGMENTOSA 23, JOUBERT SYNDROME 18, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, BARDET-BIEDL SYNDROME 9, DIAMOND-BLACKFAN ANEMIA 7, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ATRIAL FIBRILLATION, FAMILIAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

CALM1, MPDZ, TMEM216, DISC1, PAFAH1B1, TCTN3, LMNA, PRPF31, LZTFL1, TUBA4A, ACTB, FAS, NEK2, IKBKG, GLI3, CTSA, ANK2, RPL5, TUBB1, DDX3X, MYO5A, PPARG, CTNNB1, AGTR1, CCT5, RHO, UBA1, NPHP4, EDN1, PKD1, KISS1R, STK11, CDKN2A, BBIP1, DST, IFT172, PDE6D, IKBKAP, CDK5RAP2, MYC, SMARCA4, NOP56, CYCS, TTC8, EXOC8, GFI1B, AFG3L2, ERBB2, MKS1, CREBBP, CYC1, PRKAG2, EIF4G1, GNAI2, THRB, SPAST, VRK1, EDNRA, RASA1, CC2D2A, WDR34, PLEC, TP53, TUBB2B, TUBA1A, CEP135, TRIP11, TBK1, AR, BBS10, MRPS22, PIGT, NOS3, DYNC2H1, PAXIP1, SMARCB1, MRPL44, BUB1B, BBS9, CORO1A, KIF5A, MEF2C, LEP, SDCCAG8, IFT80, GFM1, GFPT1, CA12, CEP152, B9D2, POLH, NR1I3, CRYAB, NFKBIA, EFTUD2, SUCLA2, SLC25A13, C2CD3, CCDC22, EP300, MKKS, HSPD1, RBPJ, TUBGCP4, ARL6, RB1, BBS2, HCFC1, HTR2A, STAT3, IQCB1, AHI1, PDE6B, INS, SNAP25, BBS1, CEP83, ACO2, GDI1, BBS12, APP, LYST, TRAF3IP1, ETFA, SMARCA2, TTC21B, INPP5E, CEP41, SMAD4, TTBK2, MRPS16, CEP290, ZNF513, HDAC6, EEF2, CTDP1, DMD, NFKB1, VHL, CEP164, PPP2R1A, TUBB, PYCR2, POLR2F, PLK4, TCTN1, AKT1, AKAP9, NDE1, KAT5, NPHP3, BRCA1, MRPL3, SCN10A, SETD1A, AURKA, KARS, NPHS1, POLG, HARS2, AXIN1, DCTN1, TSG101, ARL6IP1, TCTN2, RPGRIP1L, CSNK1D, RP2, TMEM67, IFT140, HSPA9, WDR19, TUBB3, STXBP1, TSFM, ALMS1, POMC, POLG2, TUBB2A, TUBB4A, DYNC1H1, CENPJ, AGPAT2, IFT122, BBS5, DLG3, SMAD3, INVS, MTFMT, BBS7, TUBG1, ATR, FLNC, B9D1, CNGB1, NPHP1, MED25, SCN5A, FTH1, DTNBP1, IFT27, CASK, IFT43, GLUD1, PRKACA, GATA5, CLUAP1, PCNT, CEP57, UQCRC2, PPARGC1B, ATM, RPGR, ACTN4, ODC1, WDR60, NDRG1, ABCA4, RPL11, THRA, OFD1, CNBP, BBS4, CLASP1, GRIN2B, SLC9A3R1, MEF2A, SMC3, HRAS, IRS2, ANK1, ACTN2, ARL13B, POLR3B, MAPK8IP1, ATP2A2, ANK3, TNF, ESR1, SOS2, C10orf2, CEP63, TUFM, WDR35, ATIC

CORNEAL DYSTROPHY, LATTICE TYPE I, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, ACHONDROPLASIA, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ENDOCRINE-CEREBROOSTEODYSPLASIA, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, HYPOPARATHYROIDISM FAMILIAL ISOLATED, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, TRICHOMEGALY, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS, FAMILIAL SPINAL, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, VON WILLEBRAND DISEASE, TYPE 1, LEPRECHAUNISM, HYPERPROINSULINEMIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, SYNDACTYLY, TYPE III, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, FAMILIAL COLORECTAL CANCER, KAPPA LIGHT CHAIN DEFICIENCY, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, MYOFIBRILLAR, 5, NEUROFIBROMATOSIS, TYPE 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, NOONAN SYNDROME 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {KAPOSI SARCOMA, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CORNEAL DYSTROPHY, SCHNYDER TYPE, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, ELLIPTOCYTOSIS-2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, TUBEROUS SCLEROSIS-1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ?FIBROMATOSIS, GINGIVAL, 1, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME 7, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, 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, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, BENT BONE DYSPLASIA SYNDROME, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, TREACHER COLLINS SYNDROME 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, LEOPARD SYNDROME 3, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIOMYOPATHY, DILATED, 1NN, ?MULTIPLE SYNOSTOSES SYNDROME 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPHEROCYTOSIS, TYPE 2, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, NOONAN SYNDROME 9, ?RENAL HYPODYSPLASIA/APLASIA 2, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, AMYLOIDOSIS, FINNISH TYPE, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, LEGIUS SYNDROME, METACARPAL 4-5 FUSION, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, QUESTION MARK EARS, ISOLATED, CLEFT PALATE, ISOLATED, {MELANOMA, CUTANEOUS MALIGNANT, 2}, COMMON VARIABLE IMMUNODEFICIENCY 1, DUCHENNE MUSCULAR DYSTROPHY, ADRENAL CORTICAL CARCINOMA, APERT SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BECKER MUSCULAR DYSTROPHY, OROFACIAL CLEFT 11, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DEAFNESS, AUTOSOMAL DOMINANT 20/26, CORNEAL DYSTROPHY, GROENOUW TYPE I, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEUROCUTANEOUS MELANOSIS, SOMATIC, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, LEOPARD SYNDROME 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, EHLERS-DANLOS SYNDROME, TYPE 3, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, CONGENITAL DIAPHRAGMATIC HERNIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SADDAN, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, HOLOPROSENCEPHALY-3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 89, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, BURKITT LYMPHOMA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, LEFT VENTRICULAR NONCOMPACTION 7, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, MYOPIA 23, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, TRICHOHEPATOENTERIC SYNDROME 2, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, PLASMA FIBRONECTIN DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PARKINSON DISEASE 4, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CORNEAL DYSTROPHY, AVELLINO TYPE, WATSON SYNDROME, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, MASA SYNDROME, CRASH SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, PREMATURE AGING SYNDROME, PENTTINEN TYPE, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, WOLFF-PARKINSON-WHITE SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, HYPERPARATHYROIDISM 1, SPINOCEREBELLAR ATAXIA 5, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BARAITSER-WINTER SYNDROME 2, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SUPRAVALVAR AORTIC STENOSIS, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, TRIGONOCEPHALY 1, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLIOMA SUSCEPTIBILITY 1, {INTRACRANIAL HEMORRHAGE IN BRAIN CEREBROVASCULAR MALFORMATIONS, SUSCEPTIBILITY TO}, SPHEROCYTOSIS, TYPE 3, OCULODENTODIGITAL DYSPLASIA, LIEBENBERG SYNDROME, MACROCEPHALY/AUTISM SYNDROME, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, CATSHL SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, ALTERNATING HEMIPLEGIA OF CHILDHOOD, JACKSON-WEISS SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, TUBEROUS SCLEROSIS 2, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, HEREDITARY PYROPOIKILOCYTOSIS, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, THROMBOCYTHEMIA 3, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LI-FRAUMENI SYNDROME, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, RETINITIS PIGMENTOSA 13, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, CORPUS CALLOSUM, PARTIAL AGENESIS OF, COFFIN-SIRIS SYNDROME 1, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, {PARKINSON DISEASE 18}, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, CHOROID PLEXUS PAPILLOMA, INFANTILE MYOFIBROMATOSIS 1, SPONDYLOCOSTAL DYSOSTOSIS 5, PANCREATIC CANCER/MELANOMA SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, ALEXANDER DISEASE, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PAGET DISEASE OF BONE 3, MAST CELL DISEASE, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, SMITH-KINGSMORE SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CALM1, TSC2, EZH2, F2, SQSTM1, SPRY4, SPTA1, PRPF8, FGFR4, LAMTOR2, PRKACA, ACTB, CUL3, ACTN1, AGT, TGFBI, IGKC, PPARG, ATP1A2, SNCA, CDH1, UBE2A, IL17RD, HNRNPK, FGA, PLAU, UBB, PITX1, STK11, FGF17, CDKN2A, VARS2, FGF3, ERBB4, RAB7A, EPS8, SPTAN1, MYC, SHOC2, CDC73, PIK3CA, ACTN4, BMP4, NF1, FGG, ERBB2, TEK, PRKAG2, SOX2, IL2RG, SF3B4, RAF1, ACTA1, CSF2RB, RASA1, PLEC, RUNX1, CBL, MAP2K2, FGF9, PSMB8, IGF2, VWF, NOS3, UBIAD1, SKIV2L, FGFR1, LEP, AKT2, KRAS, JAK2, EIF4G1, IL10, GFAP, SMARCE1, CCND1, PTH, SPRED1, ICK, POLR1D, MIB1, HSPB1, ITPR1, GLUD1, FOXO1, SPRY2, PTPN1, FGF23, STRADA, GRIN2A, RPS6KA3, FGF5, DUSP6, BRAF, INS, NFKB2, PAX3, CD44, NCF1, EDN1, FLNC, ITGB3, GJA1, IL2RA, ACE, SMAD4, FGB, SPTBN2, PAX2, HLA-DRB1, HDAC6, PDGFRB, DMD, PPP2R1B, PPP2R1A, GRIN2B, HES7, FOXP3, FGF20, PLK4, AKT1, CCND2, KL, VCP, ERBB3, KARS, EGFR, NEFL, IKBKB, PPP2R5D, LRPAP1, MAPK8IP1, FN1, CSNK1D, UBQLN2, KCNQ2, EFNB1, AKAP9, PTEN, FGFR3, MUSK, GSN, TSC1, KIT, STAT3, RUNX2, LCK, NRAS, IRS1, NGF, PRKCD, STUB1, FBLN1, ACTG1, CSF1R, PIK3R2, NTRK1, PTPN11, SOS2, JAK3, ITGA2B, NOS2, MAP3K8, FGF10, TGFB1, DISC1, ESR1, KITLG, PCNA, INSR, NOTCH1, SLC2A4, PDGFB, SOS1, TP53, FGFR2, FGF16, IL6, CDKN1B, PHB, TNFAIP3, PDGFRA, L1CAM, BDNF, APP, SYNGAP1, HRAS, IRS2, ACTN2, NR0B2, HSPG2, SPTB, PIK3R1, SERPINE1, GPD1L, MTOR, SHH

SUPRANUCLEAR PALSY, PROGRESSIVE, LONG QT SYNDROME 12, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, DEAFNESS, DIGENIC GJB2/GJB6, DEAFNESS, AUTOSOMAL RECESSIVE 1A, DEAFNESS, DIGENIC, GJB2/GJB3, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, RETINITIS PIGMENTOSA, DYSTONIA-11, MYOCLONIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, FRONTOTEMPORAL DEMENTIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, RENAL TUBULAR DYSGENESIS, ALAGILLE SYNDROME 2, COFFIN-LOWRY SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATRIAL FIBRILLATION, FAMILIAL, 3, SICK SINUS SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, HAJDU-CHENEY SYNDROME, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, BRUNNER SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FAMILIAL COLORECTAL CANCER, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MYOPATHY, MYOFIBRILLAR, 5, LONG QT SYNDROME 1, KEPPEN-LUBINSKY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?DYSTONIA 23, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, TIMOTHY SYNDROME, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOSPADIAS 1, X-LINKED, SPINOCEREBELLAR ATAXIA 19, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, SEIZURES, BENIGN NEONATAL, TYPE 2, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, FRONTOMETAPHYSEAL DYSPLASIA, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, DICARBOXYLIC AMINOACIDURIA, HYPERALDOSTERONISM, FAMILIAL, TYPE III, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ?FIBROMATOSIS, GINGIVAL, 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, SEGAWA SYNDROME, RECESSIVE, LEUKEMIA, CHRONIC MYELOID, SOMATIC, MYOCLONIC-ATONIC EPILEPSY, {PANIC DISORDER, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, PICK DISEASE, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, HETEROTOPIA, PERIVENTRICULAR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, ?LICHTENSTEIN-KNORR SYNDROME, GLUTAMINE DEFICIENCY, CONGENITAL, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SENIOR-LOKEN SYNDROME 6, 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, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MYOPIA 23, AUTOSOMAL RECESSIVE, MELNICK-NEEDLES SYNDROME, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, SPINOCEREBELLAR ATAXIA 14, AMYOTROPHIC LATERAL SCLEROSIS 19, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, ATRIAL FIBRILLATION, FAMILIAL, 9, LEOPARD SYNDROME 3, BART-PUMPHREY SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, ATAXIA-TELANGIECTASIA, NOONAN SYNDROME 7, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CARDIOMYOPATHY, DILATED, 1NN, OSTEOGENESIS IMPERFECTA, TYPE IV, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, PRIMARY PULMONARY HYPERTENSION, JOUBERT SYNDROME 5, LONG QT SYNDROME 14, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, EPIDERMAL NEVUS, ESOPHAGEAL CARCINOMA, SOMATIC ESOPHAGEAL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, SOMATIC, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, SOMATIC, ESOPHAGEAL CANCER, ESOPHAGEAL SQUAMOUS CELL CARCINOMA, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, NON-IMMUNE HYDROPS FETALIS, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, DUCHENNE MUSCULAR DYSTROPHY, ADRENAL CORTICAL CARCINOMA, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, PULMONARY HYPERTENSION, PRIMARY, 4, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DYSTONIA 25, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24, ALZHEIMER DISEASE, TYPE 4, IMMUNODEFICIENCY 11, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, SESAME SYNDROME, HYPERPROINSULINEMIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, ESCOBAR SYNDROME, IRIDOGONIODYSGENESIS, TYPE 2, PAPILLARY THYROID CARCINOMA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, EPISODIC ATAXIA, TYPE 6, GABA-TRANSAMINASE DEFICIENCY, HYPEREKPLEXIA HEREDITARY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, CARDIOMYOPATHY, DILATED, 1U, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, LONG QT SYNDROME 13, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, SYNDACTYLY, TYPE III, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ZIMMERMANN-LABAND SYNDROME 1, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, DEJERINE-SOTTAS DISEASE, EPISODIC ATAXIA/MYOKYMIA SYNDROME, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OSTEOGENESIS IMPERFECTA, TYPE III, PEROXISOME BIOGENESIS DISORDER 2B, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ESSENTIAL HYPERTENSION, RETINAL CONE DYSTROPHY 3B, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PARKINSONISM-DYSTONIA, INFANTILE, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, TEMPLE-BARAITSER SYNDROME, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, AXENFELD-RIEGER SYNDROME, TYPE 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, CHOROID PLEXUS PAPILLOMA, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, JERVELL AND LANGE-NIELSEN SYNDROME 1, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ALCOHOL DEPENDENCE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MIRROR MOVEMENTS 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, GALACTOSE EPIMERASE DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?BLEEDING DISORDER, PLATELET-TYPE, 19, DEAFNESS, AUTOSOMAL RECESSIVE 37, BRUGADA SYNDROME 9, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, LISSENCEPHALY 5, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, {BLEPHAROSPASM, PRIMARY BENIGN}, RING DERMOID OF CORNEA, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, OSTEOGENESIS IMPERFECTA, TYPE I, EPISODIC ATAXIA, TYPE 5, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, FRASER SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, EPILEPSY, PROGRESSIVE MYOCLONIC 7, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, GLUCOCORTICOID RESISTANCE, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, [NOVELTY SEEKING PERSONALITY], PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, SUPRAVALVAR AORTIC STENOSIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, EPISODIC ATAXIA, TYPE 2, AURICULOCONDYLAR SYNDROME 3, ACNE INVERSA, FAMILIAL, 3, PSEUDOHYPOPARATHYROIDISM IC, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, HUNTINGTON DISEASE, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLIOMA SUSCEPTIBILITY 1, ATRIAL FIBRILLATION, FAMILIAL, 7, ATRIAL FIBRILLATION, FAMILIAL, 12, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OCULODENTODIGITAL DYSPLASIA, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, PITUITARY DEPENDENT HYPERCORTISOLISM, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, ?OSTEOPOROSIS, INVOLUTIONAL, {OSTEOPOROSIS}, {OSTEOPOROSIS, SUSCEPTIBILITY TO}, {OSTEOPOROSIS, POSTMENOPAUSAL, SUSCEPTIBILITY}, {BONE MINERAL DENSITY VARIATION QTL, OSTEOPOROSIS}, {OSTEOPOROSIS, POSTMENOPAUSAL}, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, SPINOCEREBELLAR ATAXIA 6, MYOPATHY, DISTAL, TATEYAMA TYPE, SPINOCEREBELLAR ATAXIA 13, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, CAFFEY DISEASE, DEAFNESS, AUTOSOMAL DOMINANT 2A, SHORT QT SYNDROME 2, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, OTOPALATODIGITAL SYNDROME, TYPE I, DEAFNESS, AUTOSOMAL RECESSIVE 30, DEAFNESS, AUTOSOMAL DOMINANT 3A, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 1, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, VOHWINKEL SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, GLYCOGEN STORAGE DISEASE XI, ANDROGEN INSENSITIVITY, MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, PAGET DISEASE OF BONE 3, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SPINOCEREBELLAR ATAXIA 42, MYOGLOBINURIA, RECURRENT, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, SMITH-KINGSMORE SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC

CALM1, CHRNA4, LAMB1, STX1B, DRD4, NCF1, MYC, KCNJ6, CHRNG, SQSTM1, PIK3CA, PSEN1, MAPT, AP2S1, ACTN2, KRIT1, AGT, GNAI3, ARHGEF9, SLC6A3, CSNK1D, EDN1, KCNH2, CTNNB1, RYR2, MYO3A, KCNA1, TGFBR1, SPTAN1, COL1A1, CACNA1B, GABRA2, PRKCG, CACNB4, ERBB2, ADCY6, GNAI2, MYO6, MAOA, KIF1A, STXBP1, SOX9, KCNH1, GRIP1, DRD2, ERBB3, COPA, GABRA1, CHRND, PEX5, SYN2, CHRNA2, AR, GNAS, NOTCH2, GLUL, GNB3, DAG1, TNF, CACNA1D, ADCY1, PRKACG, ACTN1, ABAT, DRD5, KCND3, ALDH2, SLC1A1, KIF5C, CBL, SLC6A4, CCND1, KCNV2, KLC2, CACNB2, HTT, SUCLA2, MIB1, ITPR1, PRKG1, CACNA1A, GJB1, HCN1, CASR, GAD1, ALDH5A1, GNB4, STX11, HTR2A, RPS6KA3, GPHN, ADCY5, ADD1, INS, SNAP25, KCNC1, SNTA1, MT-CO1, COMT, KCNA5, CAV3, FLNC, KCNJ11, CACNA1G, PPARG, GJA1, KCNN4, GABBR2, LDHA, MEF2A, CEP290, KCNMB1, FLNA, SYN1, KCNB1, DMD, KCNJ5, PPP2R1A, GRIN2B, CHRNA1, KCNQ4, MTOR, NR3C1, AKT1, AKAP9, SLC9A1, GALE, CFTR, POLR2F, PRKCD, TP53, SEC63, EPS8, NEFL, RAF1, GJB2, LRPAP1, ITGA7, RHO, KCNQ2, ERBB4, MUSK, POMC, TH, KCNC3, SLC5A7, GABRG2, HRAS, BCR, GRIN2A, DNAJC5, DLG3, KCNQ1, NGF, KCNQ3, KCNJ1, HCCS, CHRNE, GRIK2, KCNJ10, TGFB1, KCNMA1, AP4M1, ATM, GNAL, KCNA2, CASK, PLCB1, ANK2, PRKACA, CACNA1C, KCNJ8, CARD11, SOS1, PITX2, BRAF, BAX, ADRB2, ABCC9, CACNA1S, KCNK3, BDNF, APP, CHAT, KCNJ2, ABCC8, SLC6A1, DCC, EGFR, SNCA, SORT1, GNRH1, SLC1A3, STX16, ALB, ESR1, CAST, HCN4, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, SUPRANUCLEAR PALSY, PROGRESSIVE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, LONG QT SYNDROME 12, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, FRASER SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4, PITUITARY DEPENDENT HYPERCORTISOLISM, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, SHORT SYNDROME, LONG QT SYNDROME 13, PARKINSONISM-DYSTONIA, INFANTILE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, SYNDACTYLY, TYPE III, MYOPIA 23, AUTOSOMAL RECESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA 14, RETINITIS PIGMENTOSA, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, [NOVELTY SEEKING PERSONALITY], MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, ATRIAL FIBRILLATION, FAMILIAL, 9, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ?DYSTONIA 23, FRONTOTEMPORAL DEMENTIA, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SUPRAVALVAR AORTIC STENOSIS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, EPISODIC ATAXIA, TYPE 2, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, ACNE INVERSA, FAMILIAL, 3, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, PSEUDOHYPOPARATHYROIDISM IA, IMMUNODEFICIENCY 36, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, GLUTAMINE DEFICIENCY, CONGENITAL, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, HUNTINGTON DISEASE, {PANIC DISORDER, SUSCEPTIBILITY TO}, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, EPISODIC ATAXIA, TYPE 5, TIMOTHY SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, HAJDU-CHENEY SYNDROME, SPINOCEREBELLAR ATAXIA 15, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ESSENTIAL HYPERTENSION, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 1, WITH PROGRESSIVE CEREBELLAR ATAXIA, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, BRUNNER SYNDROME, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, JOUBERT SYNDROME 5, FAMILIAL COLORECTAL CANCER, BLEEDING DISORDER, PLATELET-TYPE, 15, OSSEOUS HETEROPLASIA, PROGRESSIVE, KERATOSIS, SEBORRHEIC, SOMATIC, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LONG QT SYNDROME 14, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, LONG QT SYNDROME 15, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SPINOCEREBELLAR ATAXIA 6, EPIDERMAL NEVUS, SENIOR-LOKEN SYNDROME 6, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {BLEPHAROSPASM, PRIMARY BENIGN}, KEPPEN-LUBINSKY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, NON-IMMUNE HYDROPS FETALIS, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, ATAXIA-TELANGIECTASIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, LEFT VENTRICULAR NONCOMPACTION 7, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, LI-FRAUMENI SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, ALCOHOL DEPENDENCE, ADRENAL CORTICAL CARCINOMA, AURICULOCONDYLAR SYNDROME 1, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, CLOVE SYNDROME, SOMATIC, AXENFELD-RIEGER SYNDROME, TYPE 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, EPISODIC ATAXIA, TYPE 6, DYSTONIA 25, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, GABA-TRANSAMINASE DEFICIENCY, CARDIOMYOPATHY, DILATED, 1NN, ALAGILLE SYNDROME 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPERALDOSTERONISM, FAMILIAL, TYPE III, IMMUNODEFICIENCY 11, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO}, {ATTENTION DEFICIT-HYPERACTIVITY DISORDER}, PARKINSON DISEASE 4, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, GALACTOSE EPIMERASE DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DICARBOXYLIC AMINOACIDURIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, SESAME SYNDROME, LISSENCEPHALY 5, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, {NICOTINE ADDICTION, SUSCEPTIBILITY TO}, {NICOTINE DEPENDENCE, PROTECTION AGAINST}, {NICOTINE ADDICTION, PROTECTION FROM}, {NICOTINE DEPENDENCE, SUSCEPTIBILITY TO}, ESCOBAR SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, IRIDOGONIODYSGENESIS, TYPE 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, PAPILLARY THYROID CARCINOMA, PAGET DISEASE OF BONE 3, LEUKEMIA, CHRONIC MYELOID, SOMATIC, MYOCLONIC-ATONIC EPILEPSY, DEAFNESS, AUTOSOMAL RECESSIVE 37, NOONAN SYNDROME 7, 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}, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DEAFNESS, AUTOSOMAL RECESSIVE 30, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, HYPEREKPLEXIA HEREDITARY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, PICK DISEASE, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, SPINOCEREBELLAR ATAXIA 42, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, LEOPARD SYNDROME 3, RING DERMOID OF CORNEA, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LOEYS-DIETZ SYNDROME 1, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, CARDIOMYOPATHY, DILATED, 1U, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, CHRNA4, LAMB1, PLCB1, DRD4, NCF1, MYC, KCNJ6, CHRNG, SQSTM1, PIK3CA, PSEN1, AP2S1, SLC1A3, AGT, GNAI3, ARHGEF9, SLC6A3, RHO, ALB, EDN1, CTNNB1, MYO3A, CSNK1D, ADRB2, CACNA1B, GABRA2, CACNB4, ERBB2, ADCY6, GNAI2, MAOA, KIF1A, ERBB4, CHRND, GRIP1, DRD2, ERBB3, COPA, GABRA1, SYN2, CHRNA2, DNAJC5, GNAS, NOTCH2, GLUL, DAG1, TNF, CACNA1D, ADCY1, PRKACG, ACTN1, ABAT, CBL, SLC6A4, GNB3, CACNB2, HTT, MIB1, ITPR1, CACNA1A, MYO6, CASR, GAD1, ALDH5A1, GNB4, HTR2A, RPS6KA3, GPHN, ADCY5, ADD1, SNAP25, ALDH2, CAV3, TGFBR1, CACNA1G, PPARG, GJA1, GABBR2, MEF2A, CEP290, KLC2, SYN1, DMD, KCNJ5, PPP2R1A, GRIN2B, CHRNA1, HRAS, MTOR, AKT1, AKAP9, KCNMA1, GALE, CFTR, TP53, EGFR, NEFL, RAF1, LRPAP1, ACTN2, SNTA1, SNCA, PRKCG, STXBP1, MUSK, POMC, SLC5A7, GABRG2, BCR, GRIN2A, DLG3, CHRNE, NGF, PRKCD, HCCS, GRIK2, KCNJ10, TGFB1, AP4M1, ATM, GNAL, CARD11, CASK, STX1B, PRKACA, CACNA1C, PITX2, BRAF, DRD5, SLC1A1, BDNF, APP, CHAT, KCNJ2, SLC6A1, EPS8, ITGA7, MAPT, GNRH1, STX16, NR3C1, ESR1, CAST, COMT, PIK3R1

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, IMMUNODEFICIENCY 15, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, GLUCOCORTICOID RESISTANCE, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, FECHTNER SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, 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, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, IMMUNODEFICIENCY 19, KERATOSIS, SEBORRHEIC, SOMATIC, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SEBASTIAN SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, IMMUNODEFICIENCY 36, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, IMMUNODEFICIENCY 12, ?IMMUNODEFICIENCY 25, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, CLEFT PALATE, ISOLATED, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, IMMUNODEFICIENCY 33, BANNAYAN-RILEY-RUVALCABA SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, CLOVE SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, MACROCEPHALY/AUTISM SYNDROME, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, WISKOTT-ALDRICH SYNDROME, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, DEAFNESS, AUTOSOMAL DOMINANT 17, EPSTEIN SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 11, LOEYS-DIETZ SYNDROME 1, DEAFNESS, AUTOSOMAL DOMINANT 20/26, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, MAY-HEGGLIN ANOMALY, METACHONDROMATOSIS, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ESTROGEN RESISTANCE, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 30/47, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, TAB2, ITK, CD3D, CBL, ACTG1, TBK1, ISG15, PIK3R2, IKBKG, PTPN11, HLA-DRB1, CD3G, MYH9, BCL10, NFKB1, ESR1, CD3E, INSR, AKT1, PAK3, TRAC, B2M, PTPRC, CARD11, CD247, NFKBIA, ITCH, HLA-DQB1, PCNA, TGFBR1, PIK3CA, TNFRSF1A, EGFR, UBB, PTEN, ZAP70, IRF8, NR3C1, WAS, PIK3R1, HLA-DQA1, IKBKB, MALT1

CORNEAL DYSTROPHY, LATTICE TYPE I, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, ACHONDROPLASIA, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA, SYNDROMIC 6, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, DESMOID DISEASE, HEREDITARY, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, HYPOPARATHYROIDISM FAMILIAL ISOLATED, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, TRICHOMEGALY, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS, FAMILIAL SPINAL, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CARDIOMYOPATHY, DILATED, 3B, VON WILLEBRAND DISEASE, TYPE 1, LEPRECHAUNISM, HYPERPROINSULINEMIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, CRANIOFACIAL-DEAFNESS-HAND SYNDROME, CATARACT 16, MULTIPLE TYPES, SYNDACTYLY, TYPE III, NAXOS DISEASE, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, FAMILIAL COLORECTAL CANCER, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, NEUROFIBROMATOSIS, TYPE 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, NOONAN SYNDROME 4, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, 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, VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL, CLOVE SYNDROME, SOMATIC, ELLIPTOCYTOSIS-2, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYOPATHY, MYOFIBRILLAR, 4, {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, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, TUBEROUS SCLEROSIS-1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, HYPOPLASTIC LEFT HEART SYNDROME 1, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, ?CATARACT 30, PULVERULENT, METACHONDROMATOSIS, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ?FIBROMATOSIS, GINGIVAL, 1, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME 7, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, X-LINKED 30/47, QUEBEC PLATELET DISORDER, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, MELANOMA AND NEURAL SYSTEM TUMOR SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, BENT BONE DYSPLASIA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, NEUROFIBROMATOSIS-NOONAN SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {DIABETES, MELLITUS, INSULIN-DEPENDENT, SUSCEPTIBILITY TO, 10}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIOMYOPATHY, DILATED, 1NN, ?MULTIPLE SYNOSTOSES SYNDROME 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SPHEROCYTOSIS, TYPE 2, CORNEAL DYSTROPHY, THIEL-BEHNKE TYPE, DEAFNESS, AUTOSOMAL DOMINANT 1, NOONAN SYNDROME 9, ?RENAL HYPODYSPLASIA/APLASIA 2, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, LONG QT SYNDROME 14, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, AMYLOIDOSIS, FINNISH TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, RABSON-MENDENHALL SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, LEGIUS SYNDROME, METACARPAL 4-5 FUSION, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, DUCHENNE MUSCULAR DYSTROPHY, CLEFT PALATE, ISOLATED, {MELANOMA, CUTANEOUS MALIGNANT, 2}, COMMON VARIABLE IMMUNODEFICIENCY 1, DIABETES MELLITUS, INSULIN-DEPENDENT, 2, ADRENAL CORTICAL CARCINOMA, APERT SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BECKER MUSCULAR DYSTROPHY, OROFACIAL CLEFT 11, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, CORNEAL DYSTROPHY, GROENOUW TYPE I, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, PIEBALDISM, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAPILLARY THYROID CARCINOMA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, FACTOR XIIIA DEFICIENCY, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATRIAL FIBRILLATION, FAMILIAL, 6, LEOPARD SYNDROME 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, CAMURATI-ENGELMANN DISEASE, CRANIOFRONTONASAL DYSPLASIA, MACULAR DYSTROPHY, PATTERNED, 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, CONGENITAL DIAPHRAGMATIC HERNIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SADDAN, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, HOLOPROSENCEPHALY-3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FANCONI RENOTUBULAR SYNDROME 2, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 89, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, MYOPIA 23, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, MEDULLARY THYROID CARCINOMA, FAMILIAL, MEDULLARY THYROID CARCINOMA, PLASMA FIBRONECTIN DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PARKINSON DISEASE 4, MYELOID LEUKEMIA, ACUTE, M4/M4EO SUBTYPE, SOMATIC,; LEUKEMIA, ACUTE MYELOID, REDUCED SURVIVAL IN, SOMATIC,; {LEUKEMIA, ACUTE MYELOID},; LEUKEMIA, ACUTE MYELOID, SOMATIC,; {LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO},; LEUKEMIA, ACUTE MYELOID,; ?LEUKEMIA, ACUTE MYELOID, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, MYELOPROLIFERATIVE DISORDER WITH EOSINOPHILIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, CATARACT 6, MULTIPLE TYPES, CORNEAL DYSTROPHY, AVELLINO TYPE, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WATSON SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, RUBINSTEIN-TAYBI SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MASA SYNDROME, CRASH SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, RHABDOMYOSARCOMA 2, ALVEOLAR, RHABDOMYOSARCOMA, ALVEOLAR, THANATOPHORIC DYSPLASIA, TYPE II, AMYOTROPHIC LATERAL SCLEROSIS 19, SPINOCEREBELLAR ATAXIA 5, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, GLUCOCORTICOID RESISTANCE, BARAITSER-WINTER SYNDROME 2, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, SUPRAVALVAR AORTIC STENOSIS, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, TRIGONOCEPHALY 1, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLIOMA SUSCEPTIBILITY 1, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, SPHEROCYTOSIS, TYPE 3, OCULODENTODIGITAL DYSPLASIA, LIEBENBERG SYNDROME, CATSHL SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, KERATOSIS, SEBORRHEIC, SOMATIC, ALTERNATING HEMIPLEGIA OF CHILDHOOD, JACKSON-WEISS SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], WAARDENBURG SYNDROME, TYPE 3, MAST CELL DISEASE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, SPLIT-HAND/FOOT MALFORMATION 1, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, HEREDITARY PYROPOIKILOCYTOSIS, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, {BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN}, THROMBOCYTHEMIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, LI-FRAUMENI SYNDROME, QUESTION MARK EARS, ISOLATED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, RETINITIS PIGMENTOSA 13, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, CORPUS CALLOSUM, PARTIAL AGENESIS OF, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE, LYMPHOPROLIFERATIVE SYNDROME 1, MACROCEPHALY/AUTISM SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, IMMUNODEFICIENCY 34, MYCOBACTERIOSIS, X-LINKED, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, CHOROID PLEXUS PAPILLOMA, INFANTILE MYOFIBROMATOSIS 1, SPONDYLOCOSTAL DYSOSTOSIS 5, PANCREATIC CANCER/MELANOMA SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, ALEXANDER DISEASE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {OBSESSIVE-COMPULSIVE DISORDER, SUSCEPTIBILITY TO}, {OBSESSIVE-COMPULSIVE DISORDER, PROTECTION AGAINST}, {OBSESSIVE-COMPULSIVE DISORDER}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, THROMBOCYTOPENIA 4, MENTAL RETARDATION, X-LINKED 90, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, SMITH-KINGSMORE SYNDROME, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CALM1, SLC34A1, EZH2, CAV1, SPRY4, SPTA1, PRPF8, CTNNA1, MYC, PRKACA, ACTB, CUL3, PIK3CA, ACTN1, ANK2, RPL5, F2, AGT, TGFBI, GFAP, ATP1A2, CDK5, ARHGEF9, IRS2, SNCA, CDH1, GJA1, IL17RD, HNRNPK, FGA, NEB, UBB, PITX1, FGF17, CDKN2A, IL10, HSPB1, FGF3, EPHA2, ERBB4, RAB7A, VIM, SPTAN1, ITGA2B, FGFR4, SHOC2, CYCS, ACTN4, NCF4, BMP4, NF1, FGG, ERBB2, NRAS, TEK, PRKACG, IL2RG, CTNNB1, SF3B4, LDB3, ACTA1, CSF2RB, RASA1, ITPR3, PLEC, RUNX1, CBL, MAP2K2, NPPA, PSMB8, IGF2, VWF, NOS3, TNF, MTOR, FGFR1, LEP, AKT2, JAK2, RASSF1, SMARCE1, CCND1, PTH, SPRED1, KARS, STAT1, JUP, CRYAB, NCF2, ITPR1, GLUD1, FOXO1, SPRY2, PTPN1, FGF23, LAMTOR2, GRIN2A, RPS6KA3, FGF5, DUSP6, ADD1, INS, NFKB2, PAX3, NCF1, EDN1, CD44, ITGB3, UBE2A, IL2RA, ACE, EP300, SMAD4, F13A1, FGB, SPTBN2, PAX2, PPP2R1A, HLA-DRB1, KRAS, PDGFRB, SYN1, DMD, NFKB1, KL, GRIN2B, HES7, CDKN1B, FGF20, PLK4, ITGB2, AKT1, CYBA, CCND2, CYBB, ITPR2, DDX58, ERBB3, DIAPH1, EPS8, NEFL, IKBKB, PPP2R5D, LRPAP1, MAPK8IP1, FN1, CSNK1D, SYNGAP1, UBQLN2, KCNQ2, EFNB1, AKAP9, PTEN, FGFR3, MUSK, GSN, TSC1, DLX5, KIT, STAT3, RUNX2, LCK, RAF1, IRS1, DLG3, SMAD3, NGF, PRKCD, IL4R, NOS2, FBLN1, ACTG1, CSF1R, PIK3R2, NTRK1, PTPN11, SOS2, JAK3, FGF9, VCP, FGF10, TGFB1, DISC1, ESR1, KITLG, PCNA, INSR, NOTCH1, AKT3, PDGFB, SOS1, TP53, FGFR2, FGF16, BRAF, PAK3, PHB, TNFAIP3, PDGFRA, L1CAM, BDNF, APP, MEF2A, APC, HRAS, GDNF, EGFR, ACTN2, ITK, PLAU, NR0B2, NR3C1, HSPG2, SPTB, SHH, KDR, SERPINE1, GPD1L, PPP2R1B, PIK3R1

BARAITSER-WINTER SYNDROME 1, ATROPHODERMA VERMICULATUM, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, SPINOCEREBELLAR ATAXIA 5, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, ACHONDROPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, THANATOPHORIC DYSPLASIA, TYPE I, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, THANATOPHORIC DYSPLASIA, TYPE II, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, EPISODIC PAIN SYNDROME, FAMILIAL, 3, RETINITIS PIGMENTOSA, CARDIOFACIOCUTANEOUS SYNDROME, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, PORETTI-BOLTSHAUSER SYNDROME, {PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2}, PILOMATRICOMA, SOMATIC, COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS, LISSENCEPHALY 5, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SPHEROCYTOSIS, TYPE 1, SUPRAVALVAR AORTIC STENOSIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, MENTAL RETARDATION, X-LINKED 99, TRIGONOCEPHALY 1, NONSMALL CELL LUNG CANCER, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {NONSMALL CELL LUNG CANCER, SUSCEPTIBILITY TO},; ADENOCARCINOMA OF LUNG, RESPONSE TO TYROSINE KINASE INHIBITOR IN,; {LUNG CANCER, PROTECTION AGAINST},; {LUNG CANCER, SUSCEPTIBILITY TO},; LUNG CANCER, SOMATIC,; NONSMALL CELL LUNG CANCER, SOMATIC,; LUNG CANCER,; {LUNG CANCER, RESISTANCE TO},; ADENOCARCINOMA OF LUNG, SOMATIC, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CARDIOMYOPATHY, DILATED, 1E, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, BRUGADA SYNDROME 7, ATRIAL FIBRILLATION, FAMILIAL, 16, COFFIN-LOWRY SYNDROME, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, HARTSFIELD SYNDROME, BRUGADA SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PAROXYSMAL EXTREME PAIN DISORDER, {HEMANGIOMA, CAPILLARY INFANTILE, SUSCEPTIBILITY TO}, HEMANGIOMA, CAPILLARY INFANTILE, SOMATIC, SPHEROCYTOSIS, TYPE 3, ATRIAL FIBRILLATION, FAMILIAL, 13, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, BENT BONE DYSPLASIA SYNDROME, HYPOCHONDROPLASIA, ATRIAL FIBRILLATION, FAMILIAL, 14, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, ?GLYCOPROTEIN IA DEFICIENCY, SPHEROCYTOSIS, TYPE 2, EHLERS-DANLOS SYNDROME, TYPE 3, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, ?MENTAL RETARDATION, X-LINKED 100, CATSHL SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, EPISODIC PAIN SYNDROME, FAMILIAL, 2, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, SICK SINUS SYNDROME 1, KERATOSIS, SEBORRHEIC, SOMATIC, LONG QT SYNDROME 14, PSEUDOHYPOALDOSTERONISM, TYPE I, JACKSON-WEISS SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, SADDAN, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MALFORMATION OF THE HEART, EPIDERMAL NEVUS, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, COLORECTAL CANCER,; {COLORECTAL CANCER},; {COLONIC ADENOMA RECURRENCE, REDUCED RISK OF},; {COLORECTAL CANCER, SUSCEPTIBILITY TO},; {COLON CANCER, SUSCEPTIBILITY TO},; COLON CANCER, SOMATIC,; COLORECTAL CANCER, SOMATIC, {PROSTATE CANCER AGGRESSIVENESS QTL},; {PROSTATE CANCER, SUSCEPTIBILITY TO, SOMATIC},; {PROSTATE CANCER, HEREDITARY, 5},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 3},; {PROSTATE CANCER, FAMILIAL, SUSCEPTIBILITY TO},; {PROSTATE CANCER, SUSCEPTIBILITY TO, 4},; PROSTATE CANCER, SOMATIC,; PROSTATE CANCER, HEREDITARY,; {PROSTATE CANCER},; {PROSTATE CANCER, SOMATIC},; {PROSTATE CANCER, PROGRESSION OF},; {PROSTATE CANCER, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ADAMS-OLIVER SYNDROME 5, HEREDITARY PYROPOIKILOCYTOSIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, DEAFNESS, AUTOSOMAL DOMINANT 56, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, NOONAN SYNDROME 4, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, LI-FRAUMENI SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), GLIOMA SUSCEPTIBILITY 1, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ADRENAL CORTICAL CARCINOMA, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ELLIPTOCYTOSIS-2, LEUKODYSTROPHY, HYPOMYELINATING, 6, APERT SYNDROME, {CEREBRAL INFARCTION, SUSCEPTIBILITY TO}, {STROKE, SUSCEPTIBILITY TO}, {ISCHEMIC STROKE, SUSCEPTIBILITY TO}, {STROKE, ISCHEMIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MUENKE SYNDROME, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, HYPOKALEMIC PERIODIC PARALYSIS 1, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SEIZURES, BENIGN NEONATAL, TYPE 2, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, NICOLAIDES-BARAITSER SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 24, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, MYASTHENIC SYNDROME, CONGENITAL, 16, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, MENTAL RETARDATION, X-LINKED 19, LISSENCEPHALY 3, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, MYOTUBULAR MYOPATHY, X-LINKED, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, DEAFNESS, AUTOSOMAL DOMINANT 20/26, PARAMYOTONIA CONGENITA, FEBRILE SEIZURES, FAMILIAL, 3B, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 7, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LIDDLE SYNDROME, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 2, FEBRILE SEIZURES, FAMILIAL, 3A, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, LYMPHEDEMA, HEREDITARY, ID, ?FIBROMATOSIS, GINGIVAL, 1, GLANZMANN THROMBASTHENIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, DEAFNESS, AUTOSOMAL RECESSIVE 39, CROUZON SYNDROME, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, BLADDER CANCER, SOMATIC, {BLADDER CANCER, SOMATIC}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, CHOROID PLEXUS PAPILLOMA, LONG QT SYNDROME-3, MASA SYNDROME, CRASH SYNDROME, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, ATRIAL FIBRILLATION, FAMILIAL, 10, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC

CALM1, HGF, F2, LAMA1, PAFAH1B1, SCNN1G, ACTB, MYD88, AP2S1, TUBB1, LAMB1, CDK5, SCN10A, ITGA2B, SPTA1, CLASP1, SPTAN1, DNM2, SCN8A, CNTNAP1, DNM1, SCN4A, CNTN2, DCX, TUBA1A, SLC9A3R1, NOTCH1, LRP1, FGFR1, SCNN1A, ITGA2, TUBB2B, PTH, ANK1, VEGFC, SDC3, BIN1, RPS6KA3, TNC, SCN2B, ITGB3, CTNNB1, SMARCA2, SCN1B, CNTN1, USP9X, RDX, PLK4, ITGB2, AKT1, SCN4B, SCN11A, TUBB2A, VCP, TP53, LRP2, MAP2K2, SCN2A, SCN1A, CDH1, KCNQ2, TUBB3, FGFR3, KIF4A, TUBB4A, USH2A, DLG3, NGF, KCNQ3, EPHB2, ACTG1, SCN5A, ANK3, SPTB, TUBA4A, SCN9A, SOS1, FGFR2, L1CAM, SCN3B, GRIN2B, SPTBN2, HRAS, EGFR, MYH11, ANK2, KDR

?GLYCOGEN STORAGE DISEASE XV, ATRIOVENTRICULAR SEPTAL DEFECT 4, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, LACTASE DEFICIENCY, CONGENITAL, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, CLEFT PALATE, ISOLATED, GM1-GANGLIOSIDOSIS, TYPE I, POLYGLUCOSAN BODY MYOPATHY 2, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS, MPS-III-A, NON-IMMUNE HYDROPS FETALIS, FRUCTOSE INTOLERANCE, AORTIC VALVE DISEASE 1, MUCOPOLYSACCHARIDOSIS II, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, MUCOPOLYSACCHARIDOSIS IS, GLYCOGEN STORAGE DISEASE 0, LIVER, MYHRE SYNDROME, MCARDLE DISEASE, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, BURKITT LYMPHOMA, GM1-GANGLIOSIDOSIS, TYPE III, ATRIAL SEPTAL DEFECT 2, MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, MUCOPOLYSACCHARIDOSIS IH, ?CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V, MUCOPOLYSACCHARIDOSIS IH/S, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, GLYCOGEN STORAGE DISEASE 0, MUSCLE, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), VENTRICULAR SEPTAL DEFECT 1, RETINITIS PIGMENTOSA 73, [FRUCTOSURIA], MUCOPOLYSACCHARIDOSIS IVA, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY)