MISCELLANEOUS

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

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

ADAMS-OLIVER SYNDROME 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BURKITT LYMPHOMA, CAMURATI-ENGELMANN DISEASE, LOEYS-DIETZ SYNDROME 5, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, LOEYS-DIETZ SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DU PAN SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, OSTEOGENESIS IMPERFECTA, TYPE II, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MACULAR DEGENERATION, EARLY-ONSET, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, EHLERS-DANLOS SYNDROME, TYPE 3, BRACHYDACTYLY, TYPE A1, C, GLANZMANN THROMBASTHENIA, MYHRE SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, RENAL ADYSPLASIA, QUEBEC PLATELET DISORDER, CUTIS LAXA, AD, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, {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, DIAPHANOSPONDYLODYSOSTOSIS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, OSTEOGENESIS IMPERFECTA, TYPE IV, BRACHYDACTYLY, TYPE C, CHONDRODYSPLASIA, GREBE TYPE, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, ALAGILLE SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, LOEYS-DIETZ SYNDROME 2, CORNEAL DYSTROPHY, CONGENITAL STROMAL, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, BLEEDING DISORDER, PLATELET-TYPE, 17, GELEOPHYSIC DYSPLASIA 2, BRACHYDACTYLY, TYPE A1, D, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, {EXFOLIATION SYNDROME, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, 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}

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

ATROPHODERMA VERMICULATUM, USHER SYNDROME, TYPE 1B, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, LONG QT SYNDROME 15, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, ?NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DEAFNESS, AUTOSOMAL DOMINANT 11, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOTUBULAR MYOPATHY, X-LINKED, 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, 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, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOPSEUDOHYPOPARATHYROIDISM, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, RETINITIS PIGMENTOSA 45, OCULODENTODIGITAL DYSPLASIA, 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, PARKINSON DISEASE 1, 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, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OGUCHI DISEASE-1, LONG QT SYNDROME 14, BURKITT LYMPHOMA, HYPERLIPOPROTEINEMIA, TYPE IB, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, OSSEOUS HETEROPLASIA, PROGRESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, BRACHYDACTYLY, TYPE A1, D, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LEBER CONGENITAL AMAUROSIS 13, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LI-FRAUMENI SYNDROME, ?DYSTONIA, JUVENILE-ONSET, GLIOMA SUSCEPTIBILITY 1, RETINITIS PIGMENTOSA 57, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {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, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, DARIER DISEASE, HEMOCHROMATOSIS TYPE 1, CARDIOMYOPATHY, DILATED, 1NN, PULMONARY HYPERTENSION, PRIMARY, 3, {46XY SEX REVERSAL 8, MODIFIER OF}, 46XY SEX REVERSAL 8, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ATRIAL STANDSTILL 2, 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, OMODYSPLASIA 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, 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, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PORETTI-BOLTSHAUSER SYNDROME, BLUE CONE MONOCHROMACY, HYPOBETALIPOPROTEINEMIA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ?RETINITIS PIGMENTOSA 66, QUEBEC PLATELET DISORDER, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, PICK DISEASE, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, PANCREATIC LIPASE DEFICIENCY, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ATRIAL FIBRILLATION, FAMILIAL, 6, DEAFNESS, AUTOSOMAL RECESSIVE 2, BOTHNIA RETINAL DYSTROPHY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, ACROKERATOSIS VERRUCIFORMIS, PROTEUS SYNDROME, SOMATIC

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

FACTOR V DEFICIENCY, CAMURATI-ENGELMANN DISEASE, OTOPALATODIGITAL SYNDROME, TYPE II, 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, 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, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, FRONTOMETAPHYSEAL DYSPLASIA, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {GLIOMA SUSCEPTIBILITY 9}, RENAL TUBULAR DYSGENESIS, GLIOMA SUSCEPTIBILITY 1, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, HEMOPHILIA A, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, VON WILLEBRAND DISEASE, TYPE 1, 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, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, DENYS-DRASH SYNDROME, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, BURKITT LYMPHOMA, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, FRAXE, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, COMBINED SAP DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MYOPATHY, MYOFIBRILLAR, 5, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, 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, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, TIBIAL MUSCULAR DYSTROPHY, TARDIVE, PROTEUS SYNDROME, SOMATIC, PLATELET GLYCOPROTEIN IV DEFICIENCY, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, 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}, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {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, LOEYS-DIETZ SYNDROME 5, 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, ?MYOPATHY, SCAPULOHUMEROPERONEAL, GLANZMANN THROMBASTHENIA, NEPHROTIC SYNDROME, TYPE 4, OSTEOGENESIS IMPERFECTA, TYPE XVII, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, 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, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LOEYS-DIETZ SYNDROME 4, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY

ACTA1, CALM1, SOD1, CD44, ITGB3, CDK4, SHH, PROS1, ERBB3, MYC, VWF, SERPINA1, F8, ACTB, FLNC, ACTN4, IGF2, TGFB1, VEGFC, NOS3, FLNA, STAT1, TGFB3, TGFB2, AGT, F5, TBP, LDLR, TUBA4A, APP, ACTN1, PLG, ITGA2B, FN1, IFNG, F2, IGF1R, IL2RA, JAK2, WT1, DCN, SPARC, NOS2, ACTN2, CD36, TP53, A2M, AKT1, EGFR, PSAP, TTN, CALR, IGF1, SERPING1, F13A1, POT1, POMC, HSPG2, CFD, CDH1, PIK3R1, INS, LAMP2, SERPINE1, PDGFB, MMP2

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, IMMUNODEFICIENCY 15, CORNEAL DYSTROPHY, LATTICE TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, THANATOPHORIC DYSPLASIA, TYPE I, 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, 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, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, CLEFT PALATE, ISOLATED, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?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, LEOPARD SYNDROME 3, ALEXANDER DISEASE, CAMURATI-ENGELMANN DISEASE, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, 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, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, 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, IMMUNODEFICIENCY 43, ?RENAL HYPODYSPLASIA/APLASIA 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, GLIOMA SUSCEPTIBILITY 1, ?MULTIPLE SYNOSTOSES SYNDROME 3, AMYOTROPHIC LATERAL SCLEROSIS 19, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, ?IMMUNODEFICIENCY 22, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, RETINITIS PIGMENTOSA 13, PARKINSON DISEASE 1, CATSHL SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SHORT SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, BLEEDING DISORDER, PLATELET-TYPE, 15, BEARE-STEVENSON CUTIS GYRATA SYNDROME, 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, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, OPSISMODYSPLASIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, PAPILLORENAL SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, RETINITIS PIGMENTOSA 37, DUCHENNE MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMMON VARIABLE IMMUNODEFICIENCY 1, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?DYSTONIA, JUVENILE-ONSET, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CARDIOMYOPATHY, DILATED, 1NN, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, ELLIPTOCYTOSIS-2, QUEBEC PLATELET DISORDER, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ESTROGEN RESISTANCE, 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, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOCHONDROPLASIA, ROBINOW SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 89, PARKINSON DISEASE 4, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, DEAFNESS, AUTOSOMAL DOMINANT 20/26, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SPONDYLOCOSTAL DYSOSTOSIS 5, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, 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}, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, 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, CORNEAL DYSTROPHY, AVELLINO TYPE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PSEUDOHYPOALDOSTERONISM, TYPE IIE, 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, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PSEUDOHYPOALDOSTERONISM, TYPE 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LEOPARD SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

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

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, PAPILLORENAL SYNDROME, ATROPHODERMA VERMICULATUM, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, MACULAR DEGENERATION, EARLY-ONSET, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, CZECH DYSPLASIA, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WEISSENBACHER-ZWEYMULLER SYNDROME, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA WITH COLOBOMA 5, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, 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, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, MELNICK-NEEDLES SYNDROME, PORENCEPHALY 2, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPIDERMOLYSIS BULLOSA PRURIGINOSA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, MYOPATHY, DISTAL, 4, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT, MYASTHENIC SYNDROME, CONGENITAL, 19, PORETTI-BOLTSHAUSER SYNDROME, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, LISSENCEPHALY 5, WAARDENBURG SYNDROME, TYPE 2D, FRONTOTEMPORAL DEMENTIA, PORENCEPHALY 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, FRONTOMETAPHYSEAL DYSPLASIA, MULTIPLE SYNOSTOSES SYNDROME 1, ?RETINAL ARTERIES, TORTUOSITY OF, CORNEAL DYSTROPHY, CONGENITAL STROMAL, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ACNE INVERSA, FAMILIAL, 3, ALZHEIMER DISEASE, TYPE 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, RENAL TUBULAR DYSGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, ADAMS-OLIVER SYNDROME 5, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, GLIOMA SUSCEPTIBILITY 1, 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, 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, ?GLYCOPROTEIN IA DEFICIENCY, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, AMELOGENESIS IMPERFECTA, TYPE IA, BENIGN FAMILIAL HEMATURIA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EPIDERMOLYSIS BULLOSA, PRETIBIAL, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, STICKLER SYNDROME, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, MYHRE SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, TARSAL-CARPAL COALITION SYNDROME, BETHLEM MYOPATHY 1, TUBEROUS SCLEROSIS 2, SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE, METAPHYSEAL ANADYSPLASIA 1, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ALPORT SYNDROME, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, WAARDENBURG SYNDROME, TYPE 4C, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, COLE-CARPENTER SYNDROME 1, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 91, ?DEAFNESS, X-LINKED 6, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, KNOBLOCH SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, ?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, LI-FRAUMENI SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, HETEROTOPIA, PERIVENTRICULAR, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, HYPOSPADIAS 1, X-LINKED, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, METAPHYSEAL CHONDRODYSPLASIA, SPAHR TYPE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, AVASCULAR NECROSIS OF THE FEMORAL HEAD, DEAFNESS, AUTOSOMAL RECESSIVE 53, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, 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}, CAVITARY OPTIC DISC ANOMALIES, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, EHLERS-DANLOS SYNDROME, TYPE IV, SPINOCEREBELLAR ATAXIA 17, FIBROCHONDROGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, APHASIA, PRIMARY PROGRESSIVE, FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BRACHYDACTYLY, TYPE B2, EPITHELIAL RECURRENT EROSION DYSTROPHY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, MYOPATHY, MYOFIBRILLAR, 5, GELEOPHYSIC DYSPLASIA 2, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, TRANSIENT BULLOUS OF THE NEWBORN, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, FLETCHER FACTOR (PREKALLIKREIN) DEFICIENCY, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE XVII, CUTIS LAXA, AD, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, NEPHROTIC SYNDROME, TYPE 12, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, DEAFNESS, AUTOSOMAL DOMINANT 13, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, 46,XX SEX REVERSAL, TYPE 2, PICK DISEASE, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, CEROID LIPOFUSCINOSIS, NEURONAL, 11, THROMBOCYTOPENIA 5, CARDIOMYOPATHY, DILATED, 1V, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, WEILL-MARCHESANI SYNDROME 2, DOMINANT, CEROID LIPOFUSCINOSIS, NEURONAL, 10, PROTEUS SYNDROME, SOMATIC, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, MARSHALL SYNDROME

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

COLE-CARPENTER SYNDROME 2, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, {PSORIASIS SUSCEPTIBILITY 1}, CHYLOMICRON RETENTION DISEASE, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY 43, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}

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

ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ATROPHODERMA VERMICULATUM, FACTOR V DEFICIENCY, PROPERDIN DEFICIENCY, X-LINKED, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, ANEMIA, SIDEROBLASTIC, 4, MULTIPLE SULFATASE DEFICIENCY, OTOPALATODIGITAL SYNDROME, TYPE II, ?MYOFIBROMATOSIS, INFANTILE 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, NON-IMMUNE HYDROPS FETALIS, SHORT SYNDROME, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AMISH INFANTILE EPILEPSY SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, COENZYME Q10 DEFICIENCY, PRIMARY, 6, COMPLEMENT FACTOR D DEFICIENCY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MELNICK-NEEDLES SYNDROME, COLE-CARPENTER SYNDROME 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, COLE-CARPENTER SYNDROME 2, ?SPINOCEREBELLAR ATAXIA 26, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, DYSAUTONOMIA, FAMILIAL, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, METACHROMATIC LEUKODYSTROPHY, POROKERATOSIS 7, MULTIPLE TYPES, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRONTOMETAPHYSEAL DYSPLASIA, ?RETINAL ARTERIES, TORTUOSITY OF, SALLA DISEASE, AGAMMAGLOBULINEMIA, X-LINKED 1, CORNEAL DYSTROPHY, CONGENITAL STROMAL, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, NEPHROTIC SYNDROME, TYPE 11, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ECTOPIA LENTIS ET PUPILLAE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, ADAMS-OLIVER SYNDROME 5, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, IMMUNODEFICIENCY 23, LEUKODYSTROPHY, HYPOMYELINATING, 11, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, BOHRING-OPITZ SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, HEMOPHILIA A, OSTEOGENESIS IMPERFECTA, TYPE III, BLOOM 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}, ICHTHYOSIS, X-LINKED, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, C3 DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ESSENTIAL HYPERTENSION, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, AORTIC ANEURYSM, FAMILIAL THORACIC 8, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CORNELIA DE LANGE SYNDROME 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, DIAMOND-BLACKFAN ANEMIA 6, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, BLEEDING DISORDER, PLATELET-TYPE, 15, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, LONG QT SYNDROME 14, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, CHYLOMICRON RETENTION DISEASE, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MYOPATHY, MYOFIBRILLAR, 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSSEOUS HETEROPLASIA, PROGRESSIVE, TUBEROUS SCLEROSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, FACTOR VII DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IA, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, IMMUNODEFICIENCY 36, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOGENESIS IMPERFECTA, TYPE I, CHIME SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, KAHRIZI SYNDROME, WEAVER SYNDROME, BURKITT LYMPHOMA, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, HETEROTOPIA, PERIVENTRICULAR, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, KNOBLOCH SYNDROME 1, NESTOR-GUILLERMO PROGERIA SYNDROME, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, GM1-GANGLIOSIDOSIS, TYPE I, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, MIRROR MOVEMENTS 2, OTOPALATODIGITAL SYNDROME, TYPE I, XERODERMA PIGMENTOSUM, GROUP C, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, LI-FRAUMENI SYNDROME, SPINOCEREBELLAR ATAXIA 1, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GLIOMA SUSCEPTIBILITY 1, ALAGILLE SYNDROME, WIEDEMANN-STEINER SYNDROME, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, EHLERS-DANLOS SYNDROME, TYPE VIIC, MENTAL RETARDATION, X-LINKED 102, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BERGER DISEASE, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, 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}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, DEAFNESS, AUTOSOMAL RECESSIVE 24, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, PULMONARY HYPERTENSION, PRIMARY, 3, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CORNELIA DE LANGE SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ?ATRIAL FIBRILLATION 15, INFANTILE MYOFIBROMATOSIS 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, AORTIC ANEURYSM, FAMILIAL THORACIC 6, DEAFNESS, AUTOSOMAL DOMINANT 20/26, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, VON WILLEBRAND DISEASE, TYPE 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SIALIC ACID STORAGE DISORDER, INFANTILE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {GLIOMA SUSCEPTIBILITY 9}, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, HEMOPHILIA B, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, GM1-GANGLIOSIDOSIS, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, DIAMOND-BLACKFAN ANEMIA 1, MYHRE SYNDROME, PRADER-WILLI SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, VON WILLEBRAND DISEASE, PLATELET-TYPE, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, HYPOBETALIPOPROTEINEMIA, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ?46XY SEX REVERSAL 5, NEPHROTIC SYNDROME, TYPE 12, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, RUBINSTEIN-TAYBI SYNDROME 2, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, GELEOPHYSIC DYSPLASIA 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, 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}, RIDDLE SYNDROME, EXOSTOSES, MULTIPLE, TYPE 2, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SMITH-KINGSMORE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PROTEUS SYNDROME, SOMATIC, AU-KLINE SYNDROME, NONAKA MYOPATHY

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

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, LONG QT SYNDROME 12, HYPER-IGE RECURRENT INFECTION SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 4A, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, ?CHARGE SYNDROME, CHARGE SYNDROME, METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, PULMONARY VENOOCCLUSIVE DISEASE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, CARASIL SYNDROME, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, CAMURATI-ENGELMANN DISEASE, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, FRONTOTEMPORAL DEMENTIA, 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, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CARDIOMYOPATHY, DILATED, 1E, RENAL TUBULAR DYSGENESIS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32, NEUROFIBROMATOSIS, FAMILIAL SPINAL, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, CORNELIA DE LANGE SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, ADAMS-OLIVER SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, SECKEL SYNDROME 1, 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, AORTIC ANEURYSM, FAMILIAL THORACIC 8, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, {EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9}, {EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6}, 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, SPLIT-HAND/FOOT MALFORMATION 6, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, LONG QT SYNDROME 14, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, 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, MYOPATHY, MYOFIBRILLAR, 5, NEUROFIBROMATOSIS, TYPE 1, 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, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CULLER-JONES SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, TIMOTHY SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, 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}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2I, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, ELLIPTOCYTOSIS-2, LEUKODYSTROPHY, HYPOMYELINATING, 6, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MUENKE SYNDROME, BREAST-OVARIAN CANCER, FAMILIAL 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, SEIZURES, BENIGN NEONATAL, TYPE 2, NICOLAIDES-BARAITSER SYNDROME, 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}, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, ABLEPHARON-MACROSTOMIA SYNDROME, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, HEMOCHROMATOSIS TYPE 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, FRONTONASAL DYSPLASIA 2, MYOPATHY, CENTRONUCLEAR, 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18, TUBEROUS SCLEROSIS-1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, PARKINSON DISEASE 6, EARLY ONSET, MYASTHENIC SYNDROME, CONGENITAL, 16, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, ?DYSTONIA 23, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, COLE-CARPENTER SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IA, PEROXISOME BIOGENESIS DISORDER 11B, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MYOPATHY, DISTAL, TATEYAMA TYPE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M, DEAFNESS, X-LINKED 2, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, DEAFNESS, X-LINKED 5, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, ?EPIPHYSEAL DYSPLASIA, MULTIPLE, 6, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, RENAL CYSTS AND DIABETES SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, IVIC SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, ECTOPIA LENTIS ET PUPILLAE, ROUSSY-LEVY SYNDROME, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, 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, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, 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, LEOPARD SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, CORNEAL DYSTROPHY, AVELLINO TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, CARNEY COMPLEX, TYPE 1, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, PORENCEPHALY 2, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, EPIDERMOLYSIS BULLOSA PRURIGINOSA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, VACTERL ASSOCIATION, X-LINKED, NEUROFIBROMATOSIS-NOONAN SYNDROME, MACHADO-JOSEPH DISEASE, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, [HEMOGLOBIN, HIGH ALTITUDE ADAPTATION], LISSENCEPHALY 5, LEOPARD SYNDROME 3, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, STORMORKEN SYNDROME, RETINITIS PIGMENTOSA 35, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, 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, OSTEOGENESIS IMPERFECTA, TYPE XVII, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, CLEFT PALATE, ISOLATED, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, HEMOCHROMATOSIS, TYPE 2A, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIOMYOPATHY, DILATED, 1NN, ?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, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, RETICULATE ACROPIGMENTATION OF KITAMURA, PANCREATIC AND CEREBELLAR AGENESIS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, HEMOCHROMATOSIS, TYPE 2B, LYMPHEDEMA, HEREDITARY, ID, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, VELOCARDIOFACIAL SYNDROME, NOONAN SYNDROME 9, ?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, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, TOOTH AGENESIS, SELECTIVE, 7, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, PSEUDOHYPOALDOSTERONISM, TYPE I, {MELANOMA, CUTANEOUS MALIGNANT, 3}, STRIATONIGRAL DEGENERATION, INFANTILE, SEBASTIAN SYNDROME, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, OTOPALATODIGITAL SYNDROME, TYPE I, ALPHA-METHYLACETOACETIC ACIDURIA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, TARSAL-CARPAL COALITION SYNDROME, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, OPSISMODYSPLASIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, RABSON-MENDENHALL SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, LEGIUS SYNDROME, SEGAWA SYNDROME, RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SYMPHALANGISM, PROXIMAL, 1A, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, IMMUNODEFICIENCY 36, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, 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, PALLISTER-HALL SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 56, KNOBLOCH SYNDROME 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PICK DISEASE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ACNE INVERSA, FAMILIAL, 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, COMMON VARIABLE IMMUNODEFICIENCY 1, DUCHENNE MUSCULAR DYSTROPHY, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, APERT SYNDROME, ESTROGEN RESISTANCE, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, BECKER MUSCULAR DYSTROPHY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, HYPOCHONDROPLASIA, ?IMMUNODEFICIENCY 22, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 89, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPERKALEMIC PERIODIC PARALYSIS, TYPE 2, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, CARDIOMYOPATHY, HYPERTROPHIC, 11, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, CEREBELLOFACIODENTAL SYNDROME, 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, ERYTHROCYTOSIS, FAMILIAL, 2, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1D, AVASCULAR NECROSIS OF THE FEMORAL HEAD, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, NEUROFIBROMATOSIS, TYPE 2, HYPEREKPLEXIA HEREDITARY, ERYTHROCYTOSIS, FAMILIAL, 3, TUMOR PREDISPOSITION SYNDROME, CAPOS SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, FACTOR XIIIA DEFICIENCY, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATRIAL FIBRILLATION, FAMILIAL, 6, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, XERODERMA PIGMENTOSUM, GROUP D, AU-KLINE SYNDROME, ?GLYCOPROTEIN IA DEFICIENCY, RETINITIS PIGMENTOSA 70, IMMUNODEFICIENCY 10, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D, HERMANSKY-PUDLAK SYNDROME 7, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, 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, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, LYMPHEDEMA, HEREDITARY, IA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, PHELAN-MCDERMID SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, FECHTNER SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PORETTI-BOLTSHAUSER SYNDROME, PARIETAL FORAMINA 2, DEJERINE-SOTTAS DISEASE, DEAFNESS, AUTOSOMAL RECESSIVE 24, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, PRION DISEASE WITH PROTRACTED COURSE, CZECH DYSPLASIA, SPINOCEREBELLAR ATAXIA 21, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PAROXYSMAL EXTREME PAIN DISORDER, ALPORT SYNDROME, AUTOSOMAL DOMINANT, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, OSTEOGENESIS IMPERFECTA, TYPE III, CEREBROOCULOFACIOSKELETAL SYNDROME 3, LEPRECHAUNISM, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, SPLENIC HYPOPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, PARKINSON DISEASE 1, ?MENTAL RETARDATION, X-LINKED 100, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CENTRONUCLEAR MYOPATHY 5, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, EPIDERMOLYSIS BULLOSA, PRETIBIAL, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, SICK SINUS SYNDROME 1, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ?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, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, AXENFELD-RIEGER SYNDROME, TYPE 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, EPISODIC ATAXIA, TYPE 6, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, CORNELIA DE LANGE SYNDROME 2, HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2, KOSAKI OVERGROWTH SYNDROME, ATRIAL SEPTAL DEFECT 5, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, INFANTILE MYOFIBROMATOSIS 1, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, VISCERAL MYOPATHY, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, BETHLEM MYOPATHY 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, MIRROR MOVEMENTS 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, ALAGILLE SYNDROME 2, NASU-HAKOLA DISEASE, ?IMMUNODEFICIENCY 13, HOLOPROSENCEPHALY-7, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PARAMYOTONIA CONGENITA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, HETEROTAXY, VISCERAL, 2, AUTOSOMAL, AGAMMAGLOBULINEMIA 4, HOLOPROSENCEPHALY 11, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, 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, BRACHYDACTYLY, TYPE A1, D, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WATSON SYNDROME, TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, RENAL ADYSPLASIA, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, EPIDERMOLYSIS BULLOSA OF HANDS AND FEET, EPIDERMOLYSIS BULLOSA SIMPLEX, WEBER-COCKAYNE TYPE, MOHR-TRANEBJAERG SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, LONG QT SYNDROME-3, WAARDENBURG SYNDROME, TYPE 2D, MASA SYNDROME, CRASH SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, EPISODIC ATAXIA, TYPE 5, THANATOPHORIC DYSPLASIA, TYPE II, 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, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA WITH COLOBOMA 5, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, EPISODIC PAIN SYNDROME, FAMILIAL, 3, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, GILLESPIE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, MYOPATHY, TUBULAR AGGREGATE, 1, ACNE INVERSA, FAMILIAL, 2, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, MENTAL RETARDATION, X-LINKED 99, ACNE INVERSA, FAMILIAL, 3, DUANE-RADIAL RAY SYNDROME, NEUROMUSCULAR DISEASE, CONGENITAL, WITH UNIFORM TYPE 1 FIBER, CENTRAL CORE DISEASE, EPILEPSY, FAMILIAL TEMPORAL LOBE, 1, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, SMITH-LEMLI-OPITZ SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HUNTINGTON DISEASE, PULMONARY HYPERTENSION, PRIMARY, 2, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, ATRIAL FIBRILLATION, FAMILIAL, 7, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ATRIAL FIBRILLATION, FAMILIAL, 13, TATTON-BROWN-RAHMAN SYNDROME, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, PERRY SYNDROME, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, RUBINSTEIN-TAYBI SYNDROME, RIGHT ATRIAL ISOMERISM, PREMATURE OVARIAN FAILURE 7, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, PYRUVATE KINASE DEFICIENCY, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, LUJAN-FRYNS SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, CATSHL SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, COWCHOCK SYNDROME, FUHRMANN SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, 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, MIRROR MOVEMENTS 2, DYSTONIA-12, ARTHROGRYPOSIS, DISTAL, TYPE 2A, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, SPLIT-HAND/FOOT MALFORMATION 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, PANCREATIC AGENESIS 1, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2, HETEROTOPIA, PERIVENTRICULAR, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, ?BARDET-BIEDL SYNDROME 11, THROMBOCYTHEMIA 3, CHOREA, HEREDITARY BENIGN, 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, LI-FRAUMENI SYNDROME, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 6, RETINITIS PIGMENTOSA 13, ?MYOSCLEROSIS, CONGENITAL, GLIOMA SUSCEPTIBILITY 1, PLATELET GLYCOPROTEIN IV DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, MYHRE SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, 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, IMMUNODEFICIENCY 8, 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, {AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1}, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, 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, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, THROMBOCYTOPENIA 4, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, UTERINE LEIOMYOMA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, TIETZ ALBINISM-DEAFNESS SYNDROME, MENTAL RETARDATION, X-LINKED 90, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, SPINOCEREBELLAR ATAXIA 42, IMMUNODEFICIENCY 46, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, BRODY MYOPATHY, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, ?MYOPATHY, SCAPULOHUMEROPERONEAL, DYSTONIA 27, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

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

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLYCOGEN STORAGE DISEASE IV, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, HUNTINGTON DISEASE, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, ?SPINOCEREBELLAR ATAXIA 26, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, 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, GLYCOGEN STORAGE DISEASE VI, 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, PYRUVATE KINASE DEFICIENCY, MUSCLE GLYCOGENOSIS, ?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, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, NEUROPATHY, HEREDITARY MOTOR AND SENSORY, RUSSE TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, LONG QT SYNDROME 14, CITRULLINEMIA, ADULT-ONSET TYPE II, 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, OPSISMODYSPLASIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPOMYELINATION, GLOBAL CEREBRAL, GLYCOGEN STORAGE DISEASE VII, ?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, CORO1A, AGL, GBE1, ALDOB, PPP2R5D, SMAD4, PHKA2, PYGM, PGAM2, PYGL, PHKG2, PGK1, PKLR, GYS1, EEF2, PCK1, GPI, PRKACG, NHLRC1, PPP2R1A, PGM1, GYG1, SLC25A1, INPPL1, UBB, EPM2A, LIPE, HTT, FBP1, PFKM, ENO3, PHKA1, PRKACA, HK1, SLC25A13, SLC25A12, TPI1, GAA, SPATA5, INS, PC, GCK

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, ATROPHODERMA VERMICULATUM, CAMURATI-ENGELMANN DISEASE, PSEUDOACHONDROPLASIA, CZECH DYSPLASIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, 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, MYASTHENIC SYNDROME, CONGENITAL, 19, PORETTI-BOLTSHAUSER SYNDROME, PORENCEPHALY 1, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AD, ?RETINAL ARTERIES, TORTUOSITY OF, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, 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, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, 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, BENIGN FAMILIAL HEMATURIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, FUHRMANN SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EPIDERMOLYSIS BULLOSA, PRETIBIAL, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, BETHLEM MYOPATHY 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, BLEEDING DISORDER, PLATELET-TYPE, 17, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1, SPLIT-HAND/FOOT MALFORMATION 1, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOGENESIS IMPERFECTA, TYPE I, OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 56, ?DEAFNESS, X-LINKED 6, KNOBLOCH SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, 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, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, EHLERS-DANLOS SYNDROME, TYPE IV, ALPORT SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, {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, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, PORENCEPHALY 2, GLANZMANN THROMBASTHENIA, RENAL ADYSPLASIA, {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}, HYPOBETALIPOPROTEINEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, WEILL-MARCHESANI SYNDROME 2, DOMINANT, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1

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

ADAMS-OLIVER SYNDROME 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, BUSCHKE-OLLENDORFF SYNDROME, OSTEOPOIKILOSIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BURKITT LYMPHOMA, CAMURATI-ENGELMANN DISEASE, LOEYS-DIETZ SYNDROME 5, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, LOEYS-DIETZ SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DU PAN SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOGENESIS IMPERFECTA, TYPE II, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MACULAR DEGENERATION, EARLY-ONSET, LYMPHEDEMA, HEREDITARY, IA, EHLERS-DANLOS SYNDROME, TYPE 3, CORNEAL DYSTROPHY, AVELLINO TYPE, BRACHYDACTYLY, TYPE A1, C, GLANZMANN THROMBASTHENIA, DIAPHANOSPONDYLODYSOSTOSIS, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, RENAL ADYSPLASIA, QUEBEC PLATELET DISORDER, BLEEDING DISORDER, PLATELET-TYPE, 17, CUTIS LAXA, AD, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MELORHEOSTOSIS WITH OSTEOPOIKILOSIS, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, WAARDENBURG SYNDROME, TYPE 2D, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, OSTEOGENESIS IMPERFECTA, TYPE IV, BRACHYDACTYLY, TYPE C, CHONDRODYSPLASIA, GREBE TYPE, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, CORNEAL DYSTROPHY, LATTICE TYPE I, ALAGILLE SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, LOEYS-DIETZ SYNDROME 2, CORNEAL DYSTROPHY, CONGENITAL STROMAL, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, ?ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, GELEOPHYSIC DYSPLASIA 2, BRACHYDACTYLY, TYPE A1, D, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, {EXFOLIATION SYNDROME, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MYHRE SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, 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}

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

BARDET-BIEDL SYNDROME 10, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), EVEN-PLUS SYNDROME, JOUBERT SYNDROME 10, HYPER-IGE RECURRENT INFECTION SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), ANEMIA, SIDEROBLASTIC, 4, NICOLAIDES-BARAITSER SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ?RETINITIS PIGMENTOSA 67, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, SENIOR-LOKEN SYNDROME 4, MENTAL RETARDATION, X-LINKED 102, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, DUCHENNE MUSCULAR DYSTROPHY, SENIOR-LOKEN SYNDROME 6, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), ?BARDET-BIEDL SYNDROME 19, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, ?HEMOCHROMATOSIS, TYPE 5, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT 1, AD, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, NEPHRONOPHTHISIS 18, RETINITIS PIGMENTOSA 2, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MYHRE SYNDROME, MECKEL SYNDROME 2, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, HERMANSKY-PUDLAK SYNDROME 1, RITSCHER-SCHINZEL SYNDROME 2, ?SPINOCEREBELLAR ATAXIA 26, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, MYOPATHY, DISTAL, 4, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, HUTCHINSON-GILFORD PROGERIA, DYSAUTONOMIA, FAMILIAL, BARDET-BIEDL SYNDROME 17, CORNELIA DE LANGE SYNDROME 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), SPHEROCYTOSIS, TYPE 1, BARDET-BIEDL SYNDROME 3, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, SPINOCEREBELLAR ATAXIA 28, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, JOUBERT SYNDROME 24, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SENIOR-LOKEN SYNDROME 5, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MANDIBULOACRAL DYSPLASIA, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, RETINITIS PIGMENTOSA 58, CARDIOMYOPATHY, DILATED, 1E, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL TUBULAR DYSGENESIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, BARDET-BIEDL SYNDROME 16, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, CARDIOMYOPATHY, HYPERTROPHIC 6, GLIOMA SUSCEPTIBILITY 1, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, ?PERRAULT SYNDROME 2, NEPHRONOPHTHISIS 12, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, NEPHRONOPHTHISIS 4, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, BARDET-BIEDL SYNDROME 7, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, PERRY SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, HYPERCHLORHIDROSIS, ISOLATED, NEPHRONOPHTHISIS 2, INFANTILE, JOUBERT SYNDROME 6, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, PEUTZ-JEGHERS SYNDROME, ?OPTIC ATROPHY 9, CATARACT 16, MULTIPLE TYPES, JOUBERT SYNDROME-3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 36, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ?MECKEL SYNDROME 9, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, EPISODIC PAIN SYNDROME, FAMILIAL, 2, ADAMS-OLIVER SYNDROME 3, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, SICK SINUS SYNDROME 1, JOUBERT SYNDROME 2, DIAMOND-BLACKFAN ANEMIA 6, LONG QT SYNDROME 14, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, CITRULLINEMIA, ADULT-ONSET TYPE II, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, ?OROFACIODIGITAL SYNDROME XIV, MECKEL SYNDROME 6, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), MECKEL SYNDROME 1, ACHONDROGENESIS, TYPE IA, LONG QT SYNDROME 15, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 89, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, BARDET-BIEDL SYNDROME 13, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, NEPHRONOPHTHISIS 1, JUVENILE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), COACH SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, ?MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE, ?CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B2, KLEEFSTRA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, SPINOCEREBELLAR ATAXIA 11, MENTAL RETARDATION, X-LINKED 41, ?JOUBERT SYNDROME 22, OCULOECTODERMAL SYNDROME, SENIOR-LOKEN SYNDROME-1, ?BARDET-BIEDL SYNDROME 18, IMMUNODEFICIENCY 33, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, NEPHROTIC SYNDROME, TYPE 1, LI-FRAUMENI SYNDROME, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?DYSTONIA, JUVENILE-ONSET, MECKEL SYNDROME 7, HYPOSPADIAS 1, X-LINKED, BARDET-BIEDL SYNDROME 9, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, LEUKODYSTROPHY, HYPOMYELINATING, 6, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MECKEL SYNDROME 3, MYOTONIC DYSTROPHY 2, BREAST-OVARIAN CANCER, FAMILIAL 1, ?MYASTHENIC SYNDROME, CONGENITAL, 18, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BECKER MUSCULAR DYSTROPHY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, PERRAULT SYNDROME 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, JOUBERT SYNDROME 4, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, DARIER DISEASE, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, {PARKINSON DISEASE 18}, JOUBERT SYNDROME 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, BARDET-BIEDL SYNDROME 12, RETINITIS PIGMENTOSA 45, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ATAXIA-TELANGIECTASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, LEUKODYSTROPHY, HYPOMYELINATING, 10, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, JOUBERT SYNDROME 13, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LISSENCEPHALY 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, RETINITIS PIGMENTOSA 74, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, [PREMATURE CHROMATID SEPARATION TRAIT], SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, NEPHRONOPHTHISIS 15, MACULAR DEGENERATION, X-LINKED ATROPHIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, ?SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, GRISCELLI SYNDROME, TYPE 1, MCKUSICK-KAUFMAN SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, MECKEL SYNDROME 5, ANDROGEN INSENSITIVITY, 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}, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, INFANTILE CEREBELLAR-RETINAL DEGENERATION, RETINITIS PIGMENTOSA 11, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, MYOPATHY, MYOFIBRILLAR, 2, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 20, MECKEL SYNDROME 10, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, LISSENCEPHALY 4 (WITH MICROCEPHALY), JOUBERT SYNDROME 5, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, OROFACIODIGITAL SYNDROME I, ?MECKEL SYNDROME 8, ESTROGEN RESISTANCE, NOONAN SYNDROME 9, THROMBOCYTOPENIA 4, ?RETINITIS PIGMENTOSA 23, JOUBERT SYNDROME 18, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, NEPHRONOPHTHISIS 11, ?RETINITIS PIGMENTOSA 51, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, 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}, SENIOR-LOKEN SYNDROME 9, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, LONG QT SYNDROME-3, PALLISTER-HALL SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PROTEUS SYNDROME, SOMATIC, ACROKERATOSIS VERRUCIFORMIS, HERMANSKY-PUDLAK SYNDROME 7, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

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

MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 13, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, SUPRANUCLEAR PALSY, PROGRESSIVE, ANDERSEN SYNDROME, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, EPISODIC ATAXIA, TYPE 5, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, ?LICHTENSTEIN-KNORR SYNDROME, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, FRASER SYNDROME, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, EPILEPSY, PROGRESSIVE MYOCLONIC 7, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, BARTTER SYNDROME, TYPE 2, EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DEAFNESS, DIGENIC GJB2/GJB6, DEAFNESS, AUTOSOMAL RECESSIVE 1A, DEAFNESS, DIGENIC, GJB2/GJB3, SHORT SYNDROME, LONG QT SYNDROME 13, MIRROR MOVEMENTS 1, PARKINSONISM-DYSTONIA, INFANTILE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MELNICK-NEEDLES SYNDROME, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, SPINOCEREBELLAR ATAXIA 14, ZIMMERMANN-LABAND SYNDROME 1, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, AMYOTROPHIC LATERAL SCLEROSIS 19, CAMURATI-ENGELMANN DISEASE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 19, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, LISSENCEPHALY 5, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, LEOPARD SYNDROME 3, FRONTOTEMPORAL DEMENTIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OTOPALATODIGITAL SYNDROME, TYPE II, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, EPISODIC ATAXIA/MYOKYMIA SYNDROME, EPISODIC ATAXIA, TYPE 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, ACNE INVERSA, FAMILIAL, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, PSEUDOHYPOPARATHYROIDISM IA, IMMUNODEFICIENCY 36, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32, GLUTAMINE DEFICIENCY, CONGENITAL, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ATRIAL FIBRILLATION, FAMILIAL, 3, HUNTINGTON DISEASE, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ATRIAL FIBRILLATION, FAMILIAL, 7, OSTEOGENESIS IMPERFECTA, TYPE IV, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 15, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ESSENTIAL HYPERTENSION, AORTIC ANEURYSM, FAMILIAL THORACIC 8, 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, TEMPLE-BARAITSER SYNDROME, PRIMARY PULMONARY HYPERTENSION, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, BLEEDING DISORDER, PLATELET-TYPE, 15, GLIOMA SUSCEPTIBILITY 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, BURKITT LYMPHOMA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, AXENFELD-RIEGER SYNDROME, TYPE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SPINOCEREBELLAR ATAXIA 6, LONG QT SYNDROME 15, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, SPINOCEREBELLAR ATAXIA 13, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, {BLEPHAROSPASM, PRIMARY BENIGN}, KEPPEN-LUBINSKY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 9, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OSTEOGENESIS IMPERFECTA, TYPE I, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, NON-IMMUNE HYDROPS FETALIS, PARKINSON DISEASE 4, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, DEAFNESS, AUTOSOMAL DOMINANT 2A, SHORT QT SYNDROME 2, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, HETEROTOPIA, PERIVENTRICULAR, TIMOTHY SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, ATAXIA-TELANGIECTASIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, OTOPALATODIGITAL SYNDROME, TYPE I, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, OSTEOGENESIS IMPERFECTA, TYPE II, LI-FRAUMENI SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, JERVELL AND LANGE-NIELSEN SYNDROME 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPOSPADIAS 1, X-LINKED, LONG QT SYNDROME 12, CARDIOMYOPATHY, DILATED, 1NN, SPINOCEREBELLAR ATAXIA 19, AURICULOCONDYLAR SYNDROME 1, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, CLOVE SYNDROME, SOMATIC, SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9, PULMONARY HYPERTENSION, PRIMARY, 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, 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, HYPOKALEMIC PERIODIC PARALYSIS 1, OSSEOUS HETEROPLASIA, PROGRESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SEIZURES, BENIGN NEONATAL, TYPE 2, BECKER MUSCULAR DYSTROPHY, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, ALAGILLE SYNDROME 2, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, VOHWINKEL SYNDROME, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPERALDOSTERONISM, FAMILIAL, TYPE III, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24, IMMUNODEFICIENCY 11, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?DYSTONIA 23, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, GALACTOSE EPIMERASE DEFICIENCY, GLYCOGEN STORAGE DISEASE XI, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, GABA-TRANSAMINASE DEFICIENCY, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, 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, SICK SINUS SYNDROME 2, ESCOBAR SYNDROME, 46,XX SEX REVERSAL, TYPE 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANDROGEN INSENSITIVITY, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, JOUBERT SYNDROME 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, SEGAWA SYNDROME, RECESSIVE, PAGET DISEASE OF BONE 3, MYOCLONIC-ATONIC EPILEPSY, DEAFNESS, AUTOSOMAL RECESSIVE 37, ?CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1, OBESITY, MILD, EARLY-ONSET, {OBESITY, SEVERE, AND TYPE II DIABETES}, {OBESITY, ASSOCIATION WITH}, {OBESITY, LATE-ONSET}, {OBESITY, SUSCEPTIBILITY TO}, {?OBESITY, SUSCEPTIBILITY TO}, {OBESITY, VARIATION IN}, OBESITY, AUTOSOMAL DOMINANT, OBESITY, SEVERE, {OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO}, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, SENIOR-LOKEN SYNDROME 6, {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, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, SPINOCEREBELLAR ATAXIA 42, PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS, DEJERINE-SOTTAS DISEASE, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LOEYS-DIETZ SYNDROME 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, RETINAL CONE DYSTROPHY 3B, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

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

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, FRASER SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, LONG QT SYNDROME 13, SENIOR-LOKEN SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA 14, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, 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, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, LEOPARD SYNDROME 3, FRONTOTEMPORAL DEMENTIA, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IA, ACNE INVERSA, FAMILIAL, 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, PSEUDOHYPOPARATHYROIDISM IC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, COFFIN-LOWRY SYNDROME, ATAXIA-TELANGIECTASIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ESSENTIAL HYPERTENSION, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, JOUBERT SYNDROME 5, BLEEDING DISORDER, PLATELET-TYPE, 15, GLIOMA SUSCEPTIBILITY 1, LONG QT SYNDROME 14, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, LONG QT SYNDROME 15, MYOPATHY, DISTAL, TATEYAMA TYPE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {BLEPHAROSPASM, PRIMARY BENIGN}, KEPPEN-LUBINSKY SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENLARGED VESTIBULAR AQUEDUCT, DIGENIC, DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, ENLARGED VESTIBULAR AQUEDUCT, NON-IMMUNE HYDROPS FETALIS, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, TIMOTHY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, DEAFNESS, AUTOSOMAL RECESSIVE 30, DUCHENNE MUSCULAR DYSTROPHY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARDIOMYOPATHY, DILATED, 1NN, AURICULOCONDYLAR SYNDROME 1, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, DYSTONIA 25, OSSEOUS HETEROPLASIA, PROGRESSIVE, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, 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}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPERALDOSTERONISM, FAMILIAL, TYPE III, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SESAME SYNDROME, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 6, ESCOBAR SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, PAGET DISEASE OF BONE 3, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, DEAFNESS, AUTOSOMAL RECESSIVE 37, PSEUDOPSEUDOHYPOPARATHYROIDISM, 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, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 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}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, PICK DISEASE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, IMMUNODEFICIENCY 36, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, SMITH-KINGSMORE SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PROTEUS SYNDROME, SOMATIC

CALM1, CAV3, ERBB2, DLG3, SQSTM1, GNAI3, NGF, GJA1, ERBB3, GNB4, GABRA1, CHRND, CEP290, CHRNG, CHRNA2, DRD2, GNAS, KCNJ10, PSEN1, ATM, ARHGEF9, AP2S1, DRD5, CASR, GRIN2B, DMD, GRIP1, PLCB1, ESR1, KCNJ5, CACNA1C, CHRNE, CHRNA1, AP4M1, MTOR, AKT1, AKAP9, KCNMA1, RPS6KA3, CBL, KCNJ6, GRIN2A, PRKACG, MYO3A, PRKCD, ADRB2, MYO6, NEFL, RAF1, CHRNA4, MYC, TGFBR1, ITPR1, GRIK2, MEF2A, ACTN1, KCNJ2, HRAS, GNAL, ERBB4, EGFR, ACTN2, DAG1, PRKCG, PRKACA, GNRH1, MUSK, ADCY6, GNB3, BRAF, GPHN, ADCY1, ADCY5, GABRG2, RHO, CTNNB1, CASK, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, SUPRANUCLEAR PALSY, PROGRESSIVE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LONG QT SYNDROME 12, SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY, CAMURATI-ENGELMANN DISEASE, FRASER SYNDROME, BECKER MUSCULAR DYSTROPHY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, LONG QT SYNDROME 13, PARKINSONISM-DYSTONIA, INFANTILE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?BLEEDING DISORDER, PLATELET-TYPE, 19, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, {EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA 14, DYSTONIA-11, MYOCLONIC, CARDIOFACIOCUTANEOUS SYNDROME, GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA, AMYOTROPHIC LATERAL SCLEROSIS 19, 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, LISSENCEPHALY 5, EPILEPSY, NOCTURNAL FRONTAL LOBE, 1, LEOPARD SYNDROME 3, ?DYSTONIA 23, FRONTOTEMPORAL DEMENTIA, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, EPISODIC ATAXIA, TYPE 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, ACNE INVERSA, FAMILIAL, 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, PSEUDOHYPOPARATHYROIDISM IA, IMMUNODEFICIENCY 36, RENAL TUBULAR DYSGENESIS, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, GLUTAMINE DEFICIENCY, CONGENITAL, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, HUNTINGTON DISEASE, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CARDIOMYOPATHY, DILATED, 1NN, NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, RIPPLING MUSCLE DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, 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, BLEEDING DISORDER, PLATELET-TYPE, 15, GLIOMA SUSCEPTIBILITY 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LONG QT SYNDROME 14, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, 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, 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, {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, PARKINSON DISEASE 4, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, TIMOTHY SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, ATAXIA-TELANGIECTASIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, DEAFNESS, AUTOSOMAL RECESSIVE 30, LI-FRAUMENI SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, AURICULOCONDYLAR SYNDROME 1, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, CLOVE SYNDROME, SOMATIC, AXENFELD-RIEGER SYNDROME, TYPE 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, 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, OSSEOUS HETEROPLASIA, PROGRESSIVE, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, ANDERSEN SYNDROME, MYOCLONIC-ATONIC EPILEPSY, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE F, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, ALAGILLE SYNDROME 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, HYPERALDOSTERONISM, FAMILIAL, TYPE III, IMMUNODEFICIENCY 11, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LOEYS-DIETZ SYNDROME 1, EPILEPSY, GENERALIZED, WITH FEBRILE SEIZURES PLUS, TYPE 3, FEBRILE SEIZURES, FAMILIAL, 8, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, GALACTOSE EPIMERASE DEFICIENCY, GABA-TRANSAMINASE DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, 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, ESCOBAR SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, PAGET DISEASE OF BONE 3, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, DEAFNESS, AUTOSOMAL RECESSIVE 37, PSEUDOPSEUDOHYPOPARATHYROIDISM, 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, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 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}, EPISODIC ATAXIA, TYPE 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, PICK DISEASE, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, 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, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

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

LOEYS-DIETZ SYNDROME 1, MENTAL RETARDATION, X-LINKED 30/47, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 12, IMMUNODEFICIENCY 15, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, DEAFNESS, AUTOSOMAL DOMINANT 20/26, ?IMMUNODEFICIENCY 25, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 7, TCR-ALPHA/BETA DEFICIENT, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, MAY-HEGGLIN ANOMALY, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, BANNAYAN-RILEY-RUVALCABA SYNDROME, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, CLOVE SYNDROME, SOMATIC, SHORT SYNDROME, IMMUNODEFICIENCY 19, FECHTNER SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, LYMPHOPROLIFERATIVE SYNDROME 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, SEBASTIAN 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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {CELIAC DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, DEAFNESS, AUTOSOMAL DOMINANT 17, EPSTEIN SYNDROME, ESTROGEN RESISTANCE, RABSON-MENDENHALL SYNDROME, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CLEFT PALATE, ISOLATED, NEUTROPENIA, SEVERE CONGENITAL, X-LINKED, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, PROTEUS SYNDROME, SOMATIC

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

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, SPONDYLOCOSTAL DYSOSTOSIS 5, MYOPATHY, MYOFIBRILLAR, 4, CORNEAL DYSTROPHY, LATTICE TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, NON-IMMUNE HYDROPS FETALIS, THANATOPHORIC DYSPLASIA, TYPE I, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, MICROPHTHALMIA WITH COLOBOMA 5, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?BLEEDING DISORDER, PLATELET-TYPE, 19, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, CLEFT PALATE, ISOLATED, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ALEXANDER DISEASE, CAMURATI-ENGELMANN DISEASE, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, 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, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, 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, MACULAR DYSTROPHY, PATTERNED, 2, ?RENAL HYPODYSPLASIA/APLASIA 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, GLIOMA SUSCEPTIBILITY 1, ?MULTIPLE SYNOSTOSES SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, AMYOTROPHIC LATERAL SCLEROSIS 19, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, CRANIOFRONTONASAL DYSPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, ?IMMUNODEFICIENCY 22, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 10, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, EHLERS-DANLOS SYNDROME, TYPE 3, CATARACT 16, MULTIPLE TYPES, PARKINSON DISEASE 1, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CATSHL SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SHORT SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, BLEEDING DISORDER, PLATELET-TYPE, 15, DIAMOND-BLACKFAN ANEMIA 6, BEARE-STEVENSON CUTIS GYRATA SYNDROME, SMITH-KINGSMORE SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, SPLIT-HAND/FOOT MALFORMATION 1, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, DUCHENNE MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMMON VARIABLE IMMUNODEFICIENCY 1, LI-FRAUMENI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CARDIOMYOPATHY, DILATED, 1NN, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, IMMUNODEFICIENCY 15, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, ELLIPTOCYTOSIS-2, QUEBEC PLATELET DISORDER, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, 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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, RETINITIS PIGMENTOSA 13, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOCHONDROPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 89, PARKINSON DISEASE 4, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, 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}, LEUKOCYTE ADHESION DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, MYOPATHY, MYOFIBRILLAR, 2, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, NEUROFIBROMATOSIS, TYPE 1, CORNEAL DYSTROPHY, AVELLINO TYPE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, THROMBOCYTOPENIA 4, ESTROGEN RESISTANCE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, 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, MENTAL RETARDATION, X-LINKED 30/47, PSEUDOHYPOALDOSTERONISM, TYPE 2, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, FACTOR XIIIA DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, ATRIAL FIBRILLATION, FAMILIAL, 6, MASA SYNDROME, CRASH SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CARDIOMYOPATHY, DILATED, 1II, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

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

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1, ATROPHODERMA VERMICULATUM, THANATOPHORIC DYSPLASIA, TYPE II, SPINOCEREBELLAR ATAXIA 5, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, 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, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EPISODIC PAIN SYNDROME, FAMILIAL, 3, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, PORETTI-BOLTSHAUSER SYNDROME, LISSENCEPHALY 5, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, SPHEROCYTOSIS, TYPE 1, MENTAL RETARDATION, X-LINKED 99, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CARDIOMYOPATHY, DILATED, 1E, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, GLIOMA SUSCEPTIBILITY 1, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, PAROXYSMAL EXTREME PAIN DISORDER, ATRIAL FIBRILLATION, FAMILIAL, 13, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, HYPOCHONDROPLASIA, ATRIAL FIBRILLATION, FAMILIAL, 14, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, ?GLYCOPROTEIN IA DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE 3, ?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, ?EPILEPSY, MYOCLONIC, FAMILIAL ADULT, 5, LONG QT SYNDROME 14, PSEUDOHYPOALDOSTERONISM, TYPE I, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, SADDAN, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, BEARE-STEVENSON CUTIS GYRATA SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, DEAFNESS, AUTOSOMAL DOMINANT 56, 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, VISCERAL MYOPATHY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE, 37, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ELLIPTOCYTOSIS-2, LEUKODYSTROPHY, HYPOMYELINATING, 6, APERT SYNDROME, 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, MYASTHENIC SYNDROME, CONGENITAL, 16, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, LISSENCEPHALY 3, 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, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, 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, GLANZMANN THROMBASTHENIA, CROUZON SYNDROME, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MENTAL RETARDATION, X-LINKED 90, 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, LONG QT SYNDROME-3, MASA SYNDROME, CRASH SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PROTEUS SYNDROME, SOMATIC, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5

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

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, SPONDYLOCOSTAL DYSOSTOSIS 5, IMMUNODEFICIENCY 15, CORNEAL DYSTROPHY, LATTICE TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, SINGLETON-MERTEN SYNDROME 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, THANATOPHORIC DYSPLASIA, TYPE I, 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, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?BLEEDING DISORDER, PLATELET-TYPE, 19, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ?IMMUNODEFICIENCY 39, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?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, NEUROFIBROMATOSIS, FAMILIAL SPINAL, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, ALEXANDER DISEASE, CAMURATI-ENGELMANN DISEASE, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, 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, PSEUDOHYPOPARATHYROIDISM IC, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {GLIOMA SUSCEPTIBILITY 9}, IMMUNODEFICIENCY 43, ?RENAL HYPODYSPLASIA/APLASIA 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, CLEFT PALATE, ISOLATED, SADDAN, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, LEUKODYSTROPHY, HYPOMYELINATING, 11, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ?MULTIPLE SYNOSTOSES SYNDROME 3, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, AMYOTROPHIC LATERAL SCLEROSIS 19, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, ?IMMUNODEFICIENCY 22, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, RETINITIS PIGMENTOSA 13, PARKINSON DISEASE 1, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CATSHL SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, IMMUNODEFICIENCY 19, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, BLEEDING DISORDER, PLATELET-TYPE, 15, DIAMOND-BLACKFAN ANEMIA 6, BEARE-STEVENSON CUTIS GYRATA SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, GLANZMANN THROMBASTHENIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, OSSEOUS HETEROPLASIA, PROGRESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, PAPILLORENAL SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, DUCHENNE MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, RENAL TUBULAR DYSGENESIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMMON VARIABLE IMMUNODEFICIENCY 1, LI-FRAUMENI SYNDROME, IMMUNODEFICIENCY 14, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, GLIOMA SUSCEPTIBILITY 1, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, ELLIPTOCYTOSIS-2, QUEBEC PLATELET DISORDER, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, {ALZHEIMER DISEASE, PATHOGENESIS, ASSOCIATION WITH}, {ALZHEIMER DISEASE, LATE-ONSET}, {ALZHEIMER DISEASE, SUSCEPTIBILITY TO}, ALZHEIMER DISEASE 1, FAMILIAL, {ALZHEIMER DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, WAARDENBURG SYNDROME, TYPE 1, TUBEROUS SCLEROSIS 2, 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, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CARDIOMYOPATHY, DILATED, 1NN, FOCAL CORTICAL DYSPLASIA, TAYLOR BALLOON CELL TYPE, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOCHONDROPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 89, ?MYOPATHY, SCAPULOHUMEROPERONEAL, PARKINSON DISEASE 4, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, SACRAL AGENESIS WITH VERTEBRAL ANOMALIES, DEAFNESS, AUTOSOMAL DOMINANT 20/26, PSEUDOHYPOPARATHYROIDISM IA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, MYOPATHY, DISTAL, TATEYAMA TYPE, KOSAKI OVERGROWTH SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, 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}, LEUKOCYTE ADHESION DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, 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, NEUROFIBROMATOSIS, TYPE 1, CORNEAL DYSTROPHY, AVELLINO TYPE, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, SHORT SYNDROME, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAGET DISEASE OF BONE 3, PSEUDOPSEUDOHYPOPARATHYROIDISM, THROMBOCYTOPENIA 4, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, NEUROFIBROMATOSIS, TYPE 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PSEUDOHYPOALDOSTERONISM, TYPE 2, MYHRE SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, ESSENTIAL HYPERTENSION, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, LEOPARD SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, SMITH-KINGSMORE SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, F2, FGFR1, CD3D, PRPF8, NCF1, MYC, POT1, PRKACA, ACTB, FAS, CUL3, PIK3CA, ACTN1, ANK2, RPL5, ACTN2, AGT, IRF7, ATP1A2, CDKN1B, PRKAR1A, UBQLN2, CDH1, SPTA1, IL17RD, HNRNPK, PLAU, B2M, PITX1, WNT10A, CDKN2A, HSPB1, NF1, RAB7A, SPTAN1, CYCS, TGFBI, KCNQ2, ERBB2, ADCY6, PRKACG, IL2RG, DYNC2H1, SF3B4, RAF1, ACTA1, CSF2RB, NF2, KRAS, ERBB3, MAP2K2, SYNGAP1, FGF9, FIBP, CD40, PSMB8, IGF2, SQSTM1, NOS3, TNF, MTOR, ADCY1, CD3E, LEP, PIK3CD, JAK2, CBL, GFAP, SMARCE1, CCND1, SPRED1, CD40LG, PDE3A, GNAS, CD44, ITPR1, GLUD1, T, RB1, FGF23, PCNA, GRIN2A, RPS6KA3, STAT3, ADCY5, BRAF, INS, NFKB2, PAX3, CAV3, APP, ITGB3, GJA1, IL2RA, ACE, EP300, SMAD4, RASA1, VWF, SPTBN2, PAX2, INSR, HLA-DRB1, PDGFRB, DMD, NFKB1, PPP2R1A, GRIN2B, HES7, FOXP3, FGF20, PLK4, ITGB2, AKT1, CCND2, PLEC, ITPR2, CFTR, TP53, UBE3A, EPS8, NEFL, SLC25A4, IKBKB, PPP2R5D, EZH2, SPRY2, FN1, CSNK1D, FGF17, ERBB4, PRKCG, EFNB1, AKAP9, PTEN, FGFR3, MUSK, KIT, RUNX2, LCK, NRAS, DLG3, NGF, PRKCD, UBB, PTS, FBLN1, ACTG1, CSF1R, NTRK1, MMP2, PTPN11, SOS2, TNFAIP3, ITGA2B, NOS2, DDX58, TGFB1, DISC1, TSC1, KITLG, CD19, NOTCH1, AKT3, PDGFB, SPRY4, KARS, FGFR2, ACTN4, IL6, DUSP6, ZHX2, PHB, PDGFRA, L1CAM, BDNF, CLASP1, POLR1C, VCP, CTLA4, HRAS, EGFR, SNCA, NR0B2, HSPG2, ESR1, PIK3R1, KL, SERPINE1, SHH

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, SPONDYLOCOSTAL DYSOSTOSIS 5, IMMUNODEFICIENCY 15, CORNEAL DYSTROPHY, LATTICE TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, 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, 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, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, CLEFT PALATE, ISOLATED, MYHRE SYNDROME, 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, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS-NOONAN SYNDROME, ?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, 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}, LEOPARD SYNDROME 3, ALEXANDER DISEASE, EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION, LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, 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, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, 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, ?RENAL HYPODYSPLASIA/APLASIA 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, DEMENTIA, LEWY BODY, {LEWY BODY DEMENTIA, SUSCEPTIBILITY TO}, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, GLIOMA SUSCEPTIBILITY 1, ?MULTIPLE SYNOSTOSES SYNDROME 3, AMYOTROPHIC LATERAL SCLEROSIS 19, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, ?IMMUNODEFICIENCY 22, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CRANIOFRONTONASAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, RETINITIS PIGMENTOSA 13, PARKINSON DISEASE 1, CATSHL SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, SHORT SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, BLEEDING DISORDER, PLATELET-TYPE, 15, BEARE-STEVENSON CUTIS GYRATA SYNDROME, 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, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, IMMUNODEFICIENCY 36, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, DUCHENNE MUSCULAR DYSTROPHY, THROMBOCYTHEMIA 3, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMMON VARIABLE IMMUNODEFICIENCY 1, LI-FRAUMENI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?DYSTONIA, JUVENILE-ONSET, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CARDIOMYOPATHY, DILATED, 1NN, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, ELLIPTOCYTOSIS-2, QUEBEC PLATELET DISORDER, APERT SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, ESTROGEN RESISTANCE, MUENKE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, WAARDENBURG SYNDROME, TYPE 1, CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOCHONDROPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 89, PARKINSON DISEASE 4, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, INFANTILE MYOFIBROMATOSIS 1, DEAFNESS, AUTOSOMAL DOMINANT 20/26, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL, 2, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, 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}, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, 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, CORNEAL DYSTROPHY, AVELLINO TYPE, ?MYOPATHY, SCAPULOHUMEROPERONEAL, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, ?IMMUNODEFICIENCY 37, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PSEUDOHYPOALDOSTERONISM, TYPE IIE, 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, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PSEUDOHYPOALDOSTERONISM, TYPE 2, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2Y, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, NEUROCUTANEOUS MELANOSIS, SOMATIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MASA SYNDROME, CRASH SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LEOPARD SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, F2, SPRY4, SPTA1, PRPF8, MYC, ACTB, CUL3, ACTN1, AGT, GFAP, ATP1A2, SNCA, MUSK, CDH1, IL17RD, PLAU, UBB, PITX1, CDKN2A, HSPB1, RAB7A, SPTAN1, PIK3CA, TGFBI, PDGFRB, IGF1, NRAS, IL2RG, SF3B4, ERBB4, ACTA1, CSF2RB, RASA1, ERBB2, PLEC, ERBB3, MAP2K2, FGF9, PSMB8, IGF2, NOS3, MTOR, FGFR1, LEP, GHR, FGF17, JAK2, CBL, SMARCE1, CCND1, SPRED1, CD44, ITPR1, TGFB1, HSPD1, SPRY2, FGF23, PCNA, GRIN2A, RPS6KA3, STAT3, DUSP6, BRAF, INS, NFKB2, SOS2, NCF1, GRIN2B, ITGB3, GJA1, IL2RA, ACE, SMAD4, VWF, SYNGAP1, PAX2, HLA-DRB1, DMD, PPP2R1A, HES7, FGF20, PLK4, AKT1, CCND2, KRAS, VCP, TP53, EPS8, NEFL, IKBKB, HNRNPK, EZH2, FN1, CSNK1D, UBQLN2, KCNQ2, EFNB1, AKAP9, NF1, FGFR3, PAX3, KIT, RUNX2, LCK, RAF1, NGF, PRKCD, PPP2R5D, FBLN1, ACTG1, CSF1R, NTRK1, PTPN11, TNFAIP3, ITGA2B, NOS2, BCL10, DISC1, GLUD1, KITLG, INSR, NOTCH1, PDGFB, KARS, FGFR2, ACTN4, IL6, CDKN1B, PHB, PDGFRA, L1CAM, BDNF, APP, SPTBN2, HRAS, EGFR, ACTN2, NR0B2, PNPLA2, HSPG2, ESR1, PIK3R1, KL, SERPINE1, SHH

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, LACTASE DEFICIENCY, CONGENITAL, CLEFT PALATE, ISOLATED, GM1-GANGLIOSIDOSIS, TYPE I, POLYGLUCOSAN BODY MYOPATHY 2, GM1-GANGLIOSIDOSIS, TYPE II, MCARDLE DISEASE, NON-IMMUNE HYDROPS FETALIS, FRUCTOSE INTOLERANCE, MUCOPOLYSACCHARIDOSIS IS, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS, MPS-III-A, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, BURKITT LYMPHOMA, GM1-GANGLIOSIDOSIS, TYPE III, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS II, ?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 IH, RETINITIS PIGMENTOSA 73, [FRUCTOSURIA], MUCOPOLYSACCHARIDOSIS IVA, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY)

NEU1, GLB1, LCT, ALDOB, MYC, SMAD4, NHLRC1, GNS, GYS1, GUSB, IDS, PYGM, GYG1, IDUA, UBB, HGSNAT, NAGLU, GATA4, SGSH, GALNS, KHK, ARSB, EPM2A

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, FACTOR V DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C, OTOPALATODIGITAL SYNDROME, TYPE II, PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 4, 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, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, HERMANSKY-PUDLAK SYNDROME 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, COLE-CARPENTER SYNDROME 2, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSAUTONOMIA, FAMILIAL, FRONTOTEMPORAL DEMENTIA, HYPER-IGE RECURRENT INFECTION SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHROMATOPSIA 7, ?RETINAL ARTERIES, TORTUOSITY OF, SALLA DISEASE, EXOSTOSES, MULTIPLE, TYPE 1, SENIOR-LOKEN SYNDROME 6, MANDIBULOACRAL DYSPLASIA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, RENAL TUBULAR DYSGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, ECTOPIA LENTIS ET PUPILLAE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, LEUKODYSTROPHY, HYPOMYELINATING, 11, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, BOHRING-OPITZ SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, JOUBERT SYNDROME 5, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, VON WILLEBRAND DISEASE, TYPE 1, SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, C3 DEFICIENCY, SPINOCEREBELLAR ATAXIA 15, {MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 53, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, AORTIC ANEURYSM, FAMILIAL THORACIC 8, IMMUNODEFICIENCY, COMMON VARIABLE, 10, EHLERS-DANLOS SYNDROME, TYPE 3, ?OPTIC ATROPHY 9, CATARACT 16, MULTIPLE TYPES, IMMUNODEFICIENCY 44, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, ?CATARACT 41, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, OVARIAN HYPERSTIMULATION SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PALMOPLANTAR KERATODERMA WITH CONGENITAL ALOPECIA, HAY-WELLS SYNDROME, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, KAHRIZI SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, NESTOR-GUILLERMO PROGERIA SYNDROME, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], CITRULLINEMIA, TYPE II, NEONATAL-ONSET, ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, MIRROR MOVEMENTS 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPOSPADIAS 1, X-LINKED, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, WIEDEMANN-STEINER SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 6, EHLERS-DANLOS SYNDROME, TYPE VIIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, 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, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HYPOTRICHOSIS 12, {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, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, POROKERATOSIS 3, MULTIPLE TYPES, PSEUDOHYPOPARATHYROIDISM IA, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, SPLIT-HAND/FOOT MALFORMATION 4, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 13, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, DEAFNESS, X-LINKED 5, ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS, ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, BLEEDING DISORDER, PLATELET-TYPE, 16, AUTOSOMAL DOMINANT, LATERAL MENINGOCELE SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, GLANZMANN THROMBASTHENIA, ?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, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, PREMATURE OVARIAN FAILURE 7, CROUZON SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, QUEBEC PLATELET DISORDER, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, PICK DISEASE, 2-METHYLBUTYRYLGLYCINURIA, HYPOMYELINATION, GLOBAL CEREBRAL, DIAMOND-BLACKFAN ANEMIA 3, RIDDLE SYNDROME, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, {SCHWANNOMATOSIS-2, SUSCEPTIBILITY TO}, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ANEMIA, SIDEROBLASTIC, 4, AORTIC ANEURYSM, FAMILIAL THORACIC 4, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, CEROID LIPOFUSCINOSIS, NEURONAL, 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BARTH SYNDROME, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, BONE MARROW FAILURE SYNDROME 1, CORNEAL DYSTROPHY, AVELLINO TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, COMPLEMENT FACTOR D DEFICIENCY, MELNICK-NEEDLES SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, SPINOCEREBELLAR ATAXIA 14, ?SPINOCEREBELLAR ATAXIA 26, HYPERPIGMENTATION WITH OR WITHOUT HYPOPIGMENTATION, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, HYPOTRICHOSIS 11, LEOPARD SYNDROME 3, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, NEPHROTIC SYNDROME, TYPE 11, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, ?HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, ATAXIA-TELANGIECTASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, CARDIOMYOPATHY, DILATED, 1NN, OSTEOGENESIS IMPERFECTA, TYPE IV, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, GM1-GANGLIOSIDOSIS, TYPE I, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, ?MENTAL RETARDATION, X-LINKED SYNDROMIC 10, DIAMOND-BLACKFAN ANEMIA 8, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, WILMS TUMOR, SOMATIC, WILMS TUMOR, WILMS TUMOR, TYPE 1, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, KENNY-CAFFEY SYNDROME, TYPE 1, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, HEMOPHILIA A, DENYS-DRASH SYNDROME, LONG QT SYNDROME 14, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, ACETYL-COA CARBOXYLASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 1, FRAXE, CHIME SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, SEGAWA SYNDROME, RECESSIVE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, COFFIN-LOWRY SYNDROME, IMMUNODEFICIENCY 36, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, 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, 1, NON-IMMUNE HYDROPS FETALIS, KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED, LACTASE DEFICIENCY, CONGENITAL, EVEN-PLUS SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 56, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, KNOBLOCH SYNDROME 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, MUSCULAR DYSTROPHY, CONGENITAL, DENTATORUBRO-PALLIDOLUYSIAN ATROPHY, MYASTHENIC SYNDROME, CONGENITAL, 5, {MELANOMA, CUTANEOUS MALIGNANT, 3}, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COMMON VARIABLE IMMUNODEFICIENCY 1, SPINOCEREBELLAR ATAXIA 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, ESTROGEN RESISTANCE, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, ?MYASTHENIC SYNDROME, CONGENITAL, 18, 46XY SEX REVERSAL 3, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 23, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, PULMONARY HYPERTENSION, PRIMARY, 3, NEUTROPENIA, SEVERE CONGENITAL 3, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 24, SPINOCEREBELLAR ATAXIA 17, CORNELIA DE LANGE SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12, EXOSTOSES, MULTIPLE, TYPE 2, AORTIC ANEURYSM, FAMILIAL THORACIC 6, DEAFNESS, AUTOSOMAL DOMINANT 20/26, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ICHTHYOSIS, X-LINKED, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SIALIC ACID STORAGE DISORDER, INFANTILE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ASPARAGINE SYNTHETASE DEFICIENCY, 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}, RESTRICTIVE DERMOPATHY, LETHAL, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, GELEOPHYSIC DYSPLASIA 2, LEUKODYSTROPHY, HYPOMYELINATING, 9, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, VON WILLEBRAND DISEASE, PLATELET-TYPE, POROKERATOSIS 7, MULTIPLE TYPES, ADULT SYNDROME, ?PARKINSONISM WITH SPASTICITY, X-LINKED, HYPOBETALIPOPROTEINEMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, TUMOR PREDISPOSITION SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, GRISCELLI SYNDROME, TYPE 2, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, XERODERMA PIGMENTOSUM, GROUP D, CEROID LIPOFUSCINOSIS, NEURONAL, 10, RETINITIS PIGMENTOSA 70, PULMONARY VENOOCCLUSIVE DISEASE 2, HERMANSKY-PUDLAK SYNDROME 7, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, IMMUNODEFICIENCY 15, CAMURATI-ENGELMANN DISEASE, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, PERLMAN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 5, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B1, MENTAL RETARDATION, X-LINKED 102, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), AMISH INFANTILE EPILEPSY SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, COENZYME Q10 DEFICIENCY, PRIMARY, 6, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, DEAFNESS, AUTOSOMAL RECESSIVE 24, SCHWANNOMATOSIS, {SCHWANNOMATOSIS-1, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, DIAMOND-BLACKFAN ANEMIA 9, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SPLENIC HYPOPLASIA, USHER SYNDROME TYPE 3B, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, ?IMMUNODEFICIENCY 22, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, DIAMOND-BLACKFAN ANEMIA 6, DIAMOND-BLACKFAN ANEMIA 13, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, FILS SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CHYLOMICRON RETENTION DISEASE, LIMB-MAMMARY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2B, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OSSEOUS HETEROPLASIA, PROGRESSIVE, ?DIAMOND-BLACKFAN ANEMIA 11, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, DIAMOND-BLACKFAN ANEMIA 10, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, IMMUNODEFICIENCY 11, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, {PSORIASIS SUSCEPTIBILITY 1}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, POLYCYTHEMIA VERA, SOMATIC, COLE-CARPENTER SYNDROME 1, BURKITT LYMPHOMA, HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA, RETINITIS PIGMENTOSA 74, ?DEAFNESS, AUTOSOMAL RECESSIVE 91, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, PRADER-WILLI SYNDROME, XERODERMA PIGMENTOSUM, GROUP C, OSTEOGENESIS IMPERFECTA, TYPE II, ?DIAMOND-BLACKFAN ANEMIA 12, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, VISCERAL MYOPATHY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, {OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, MIRROR MOVEMENTS 1, MACROCYTIC ANEMIA, REFRACTORY, DUE TO 5Q DELETION, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2W, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, COENZYME Q10 DEFICIENCY, PRIMARY, 1, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMINOGLYCINURIA, DIGENIC, LOEYS-DIETZ SYNDROME 1, HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ?ATRIAL FIBRILLATION 15, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, KOSAKI OVERGROWTH SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, BLOOM SYNDROME, FRASIER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, FACTOR VII DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, INFANTILE CEREBELLAR-RETINAL DEGENERATION, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, AMYOTROPHIC LATERAL SCLEROSIS 19, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, MYOPATHY, MYOFIBRILLAR, 2, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, MYHRE SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, {PARKINSON DISEASE 17}, NEPHROTIC SYNDROME, TYPE 4, MASP2 DEFICIENCY, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ?46XY SEX REVERSAL 5, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME 2, GELEOPHYSIC DYSPLASIA 1, MOHR-TRANEBJAERG SYNDROME, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, C4A DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5, STAR SYNDROME, PROPERDIN DEFICIENCY, X-LINKED, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, PROGRESSIVE MYOCLONIC 6, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, MICROPHTHALMIA WITH COLOBOMA 5, ADENYLOSUCCINASE DEFICIENCY, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, {RHABDOID PREDISPOSITION SYNDROME 1}, RHABDOID TUMORS, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, GILLESPIE SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HUTCHINSON-GILFORD PROGERIA, CORNELIA DE LANGE SYNDROME 3, BARDET-BIEDL SYNDROME 3, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, SYNPOLYDACTYLY, 3/3'4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES, {GLIOMA SUSCEPTIBILITY 9}, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS, LEUKODYSTROPHY, HYPOMYELINATING, 4, PULMONARY HYPERTENSION, PRIMARY, 2, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, VLCAD DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, TATTON-BROWN-RAHMAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, SPINOCEREBELLAR ATAXIA 36, COWCHOCK SYNDROME, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CITRULLINEMIA, ADULT-ONSET TYPE II, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BJORNSTAD SYNDROME, WEAVER SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, THROMBOCYTHEMIA 3, CHOREA, HEREDITARY BENIGN, CORNELIA DE LANGE SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, NIEMANN-PICK DISEASE, TYPE C2, IMMUNODEFICIENCY 33, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, LI-FRAUMENI SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, {MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 29, MYCOBACTERIOSIS, ?MYOFIBROMATOSIS, INFANTILE 2, METACHROMATIC LEUKODYSTROPHY, {PARKINSON DISEASE 18}, PCWH SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, BLEEDING DISORDER, PLATELET-TYPE, 17, LISSENCEPHALY 3, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, INFANTILE MYOFIBROMATOSIS 1, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, SPONDYLOCOSTAL DYSOSTOSIS 5, GRISCELLI SYNDROME, TYPE 1, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, WOLCOTT-RALLISON SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, HEMOPHILIA B, DIABETES INSIPIDUS, NEPHROGENIC, ALEXANDER DISEASE, MENINGIOMA, {MENINGIOMA}, MENINGIOMA, SIS-RELATED, {MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO}, MENINGIOMA, NF2-RELATED, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, GM1-GANGLIOSIDOSIS, TYPE II, DIAMOND-BLACKFAN ANEMIA 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMORAL DEMENTIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GM1-GANGLIOSIDOSIS, TYPE III, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, THROMBOCYTOPENIA 4, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, HEMOCHROMATOSIS TYPE 1, NEPHROTIC SYNDROME, TYPE 12, TIETZ ALBINISM-DEAFNESS SYNDROME, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, CALCIUM OXALATE UROLITHIASIS, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB, CARDIOMYOPATHY, DILATED, 1II, ?MYOPATHY, SCAPULOHUMEROPERONEAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, 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, NONAKA MYOPATHY, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CALM1, APOE, RPSA, SNRPE, PROS1, HSPB1, TSC2, PIGW, GP1BA, GNAS, CIITA, RPL5, ADAMTS18, COLQ, LCT, CFD, B2M, SLC17A5, RANBP2, DPM2, RAB7A, FAM58A, NCF4, ARSE, RPS19, GFI1B, ATN1, CREBBP, RPS24, SLC6A19, PTEN, ECHS1, ERBB3, HAMP, F9, P4HB, PAXIP1, CBS, MTOR, MGAT2, ALG11, IFNG, AIFM1, TUBB2B, CCND1, JAK2, EFTUD2, AAAS, ITPR1, GALNT3, HSPD1, RPS10, HTR2A, COL4A3BP, TP63, DNMT3A, SMC3, MAN1B1, BANF1, TGFBR1, CTNNB1, SERPINC1, SCO2, SMAD4, HARS, CEP290, CD40LG, LEP, NKX2-1, CTSD, NUP62, PPP2R1A, AKT1, SETD1A, LHB, UBE3A, NOS2, EZH2, A2M, IL1B, ARL6, HSPA9, GNE, RAF1, XRCC4, XPC, CFP, PIGA, ASNS, IKZF1, HNRNPK, CD59, PIGN, PIGL, PTPN11, GATA4, RPL21, RPS26, RARS, STXBP1, MT-CO2, SOD1, BRAF, GMPPA, CALR, PRPF4, ATF6, GHRL, EGFR, UCP1, EXOC8, FSHB, PARK7, APOB, MMP1, ACTB, COL1A2, ST3GAL3, GFAP, CCT5, CTPS1, REN, HCFC1, WT1, PGAP1, DES, CYCS, TGFBI, MBTPS2, BBS2, ARHGDIA, ERBB2, NR5A1, MVD, IKBKAP, SF3B4, ACAN, MMP2, PLAU, SERPINA1, PIGM, MPI, IL12B, NOTCH1, ERCC3, SMAD9, EDNRA, RPS29, EXOSC8, KIF5C, FSHR, MAFB, THSD1, ADAMTS10, PRKG1, BAP1, TAZ, ACTA2, STS, RB1, FGF23, STAT3, ADD1, SNAP25, PIGR, UCHL1, DPH1, IGF1, SRP72, GMPPB, EEF2, NFKB2, EIF2B1, BMP2, F10, NDN, SMC1A, PCSK1, ATXN1, TP53, HLA-C, IKBKB, AQP2, PRKCG, SEC24D, TUBB4A, VDR, AR, DLG3, PPP2R5D, FBLN1, ACTG1, ASXL1, RFT1, TGFB1, FTH1, CARD11, EIF2AK3, SPTLC1, APPL1, TBCE, PLG, BLM, DNMT1, ACTN4, IL6, PHB, DCN, PCNA, POLR1C, APC, DHFR, PMPCA, ADAM17, EPOR, HSPG2, ESR1, SERPINE1, SKIV2L, LMNA, FECH, F2, PAFAH1B1, ADSL, RAD21, F7, FAS, SERPINB6, IKBKG, MUC1, CAV1, AGT, PMM2, TAF6, CDK5, CDH1, PIGC, ALG1, RPL15, MYC, NOP56, ST3GAL5, SIL1, JAG1, GFPT1, SERPING1, RBPJ, ERBB4, ACTA1, F5, SMARCA4, CBL, LZTR1, IGF2, NOS3, PARN, MAPT, TNF, KIF5A, MOGS, ACTN1, ABCA1, PROC, ITGA6, MET, ACO2, RPS17, EEF1A2, SLC35A1, C3, FKBP14, ADAMTS2, SPRY2, TSHR, SLC25A13, RPS6KA3, ACVR1, INS, PAM16, HAX1, FASLG, DIS3L2, CD44, ITGB3, TNPO3, HSD17B10, EXT1, STAT1, TXN2, VHL, ASCC1, COL4A1, GRIN2B, RDX, TNFRSF1A, BRCA1, ITGB2, FN1, TUBB3, BIN1, ACACA, FOXC2, FBN1, DCTN1, ADAMTS13, EIF2B2, RHO, PIGO, ACADSB, RPS7, STAT2, BTK, EIF2B5, SSR4, SMARCB1, PRKCD, CHEK2, DPM1, EIF2B4, CENPE, TBP, AP3B1, ADAMTSL2, KITLG, POLE, HERC2, TIMM8A, CBX2, ATP6AP2, MSX1, RPL26, STX11, APP, TNC, HRAS, COQ6, CDK4, ACTN2, SLC25A12, TINF2, TUFM, ALG13, PDGFB, ISCU, TPP1, NFKB1, CP, COL1A1, DNAJC19, POT1, F8, SRD5A3, PIGT, TAP1, TUBB1, DDX3X, RAB27A, MYO5A, PPARG, AGTR1, ARHGEF9, KISS1R, SOX10, CDKN2A, RPS14, MASP2, NEU1, ALG2, ERCC2, PDGFRB, CD40, PIGG, DNMT3B, MITF, ACE, SDHD, STT3A, KRAS, PAX6, WFS1, LRP1, LPIN1, ARSA, ARFGEF2, EIF4G1, COPA, GNB3, ALG10, C4A, YARS, CRYAB, TUBG1, EP300, RAD51, NUP107, CLPB, NOTCH3, SART3, PCBD1, ADAMTSL4, ACADVL, PTPRC, CFB, GJA1, BCS1L, RPS28, VWF, CASR, NUP155, VPS35, TH, EIF2AK4, TUBB2A, PRKDC, PLK4, DTNBP1, DOLK, PGM3, SLC25A4, TUBA1A, NUP93, PHC1, ARSB, DNAJC3, XRCC3, ACADM, NPC2, DDOST, RUNX2, SUMF1, CYC1, LCK, GLE1, FLNA, TUBA4A, NGF, COQ2, RNF168, PDHA1, RPL35A, ATM, GLB1, IRF3, DISC1, EXT2, FXN, INSR, POMC, SELE, EIF2B3, FGFR2, PACS1, CDKN1B, RPL11, ATP5A1, DPAGT1, TBX6, GALNT14, DCC, EXOSC3, MPDU1, GNRH1, SAR1B, CFTR, MYH11, ATR, GOSR2, PIK3R1, KDR, HFE, SHH

IMMUNODEFICIENCY 27A, MYCOBACTERIOSIS, AR, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ANEMIA, X-LINKED, WITH/WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ATELOSTEOGENESIS, TYPE I, DYSCHROMATOSIS SYMMETRICA HEREDITARIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, POPLITEAL PTERYGIUM SYNDROME 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, ?IMMUNODEFICIENCY 39, SPINOCEREBELLAR ATAXIA 1, GILLESPIE SYNDROME, HERMANSKY-PUDLAK SYNDROME 1, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, NEPHROTIC SYNDROME, TYPE 11, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1C, IMMUNODEFICIENCY 43, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1F, CLEFT PALATE, ISOLATED, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 27B, MYCOBACTERIOSIS, AD, LEUKODYSTROPHY, HYPOMYELINATING, 4, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, GLIOMA SUSCEPTIBILITY 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 3, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LARSEN SYNDROME, PERRY SYNDROME, MISMATCH REPAIR CANCER SYNDROME, SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, RUBINSTEIN-TAYBI SYNDROME, MYELOFIBROSIS, SOMATIC, MYELOFIBROSIS WITH MYELOID METAPLASIA, SOMATIC, CONGENITAL BILATERAL ABSENCE OF VAS DEFERENS, {RHABDOID TUMOR PREDISPOSITION SYNDROME 2}, DIAMOND-BLACKFAN ANEMIA 6, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, IMMUNODEFICIENCY 44, LEUKEMIA, JUVENILE MYELOMONOCYTIC, LEUKEMIA, ACUTE MYELOMONOCYTIC, SOMATIC, LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC, STRIATONIGRAL DEGENERATION, INFANTILE, IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE, ?CHILBLAIN LUPUS 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, TUBEROUS SCLEROSIS 2, JOHANSON-BLIZZARD SYNDROME, ARGININEMIA, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {?HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7}, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, {PSORIASIS SUSCEPTIBILITY 1}, POLYCYTHEMIA VERA, SOMATIC, GRISCELLI SYNDROME, TYPE 1, RETINITIS PIGMENTOSA 37, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, THROMBOCYTHEMIA 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, ?IMMUNODEFICIENCY 45, IMMUNODEFICIENCY 33, WHIM SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, LI-FRAUMENI SYNDROME, THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, HERMANSKY-PUDLAK SYNDROME 7, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BREAST CANCER, SOMATIC, BREAST CANCER, EARLY-ONSET, {BREAST CANCER, PROTECTION AGAINST}, {BREAST CANCER, INVASIVE DUCTAL}, {BREAST CANCER, MALE, SUSCEPTIBILITY TO}, BREAST CANCER, {BREAST CANCER}, {BREAST CANCER, LOBULAR}, {?BREAST CANCER SUSCEPTIBILITY}, {BREAST CANCER, SUSCEPTIBILITY TO}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, {PARKINSON DISEASE 18}, NASU-HAKOLA DISEASE, OPITZ GBBB SYNDROME, TYPE I, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?ATRIAL FIBRILLATION 15, SINGLETON-MERTEN SYNDROME 2, ERYTHROCYTOSIS, FAMILIAL, 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, {OROFACIAL CLEFT 6}, MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10, PAGET DISEASE OF BONE 3, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ESTROGEN RESISTANCE, AICARDI-GOUTIERES SYNDROME 5, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AICARDI-GOUTIERES SYNDROME 6, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, NEPHROTIC SYNDROME, TYPE 12, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, IMMUNODEFICIENCY 28, MYCOBACTERIOSIS, ESSENTIAL HYPERTENSION, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, LEOPARD SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ?MENTAL RETARDATION, X-LINKED 101, {CELIAC DISEASE, SUSCEPTIBILITY TO}