LABORATORY ABNORMALITIES

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, PERIODIC FEVER, FAMILIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, C3 DEFICIENCY, SELECTIVE T-CELL DEFECT, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 4, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BERGER DISEASE, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, IMMUNODEFICIENCY, COMMON VARIABLE, 2, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}

PIGR, ICOS, KNG1, IL6, TNFRSF13C, IFNG, TNFRSF11B, ZAP70, HLA-DRB1, TNFRSF13B, HLA-DQB1, C3, NOS3, HLA-DQA1, FAS, AKT1, TGFB1, MMP2, TNFRSF1A

BARAITSER-WINTER SYNDROME 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, REVESZ SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOPATHY, DISTAL, 4, FECHTNER SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, AGAMMAGLOBULINEMIA, X-LINKED 1, ALZHEIMER DISEASE, TYPE 4, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, RUBINSTEIN-TAYBI SYNDROME, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, ATRIOVENTRICULAR SEPTAL DEFECT 3, HARTSFIELD SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, PERIODIC FEVER, FAMILIAL, IMMUNODEFICIENCY 43, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, IMMUNODEFICIENCY 44, MUCKLE-WELLS SYNDROME, FAMILIAL COLD-INDUCED INFLAMMATORY SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, NEPHROTIC SYNDROME, TYPE 8, SEBASTIAN SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, MYOPATHY, MYOFIBRILLAR, 5, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, POLYCYTHEMIA VERA, SOMATIC, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, SMALL CELL CANCER OF THE LUNG, SOMATIC, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, GLYCOGEN STORAGE DISEASE XI, TRYPSINOGEN DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, BLOOM SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, ANDROGEN INSENSITIVITY, PAGET DISEASE OF BONE 3, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, LIPOID ADRENAL HYPERPLASIA, XERODERMA PIGMENTOSUM, GROUP B, ATAXIA-OCULOMOTOR APRAXIA 3, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, NEPHROTIC SYNDROME, TYPE 6, {CELIAC DISEASE, SUSCEPTIBILITY TO}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME

ACTA1, FASLG, APOB, PRSS2, AR, ZAP70, KRT8, APOA1, HLA-DQA1, PLAU, CTNNB1, ADAR, PRF1, LDHA, FAS, SQSTM1, AKT1, TGFB1, PSEN1, PPARG, NEUROD1, PTPRO, STAT1, ERCC3, CCND1, NLRC4, LPIN1, MYD88, GJA1, HLA-DRB1, FGFR1, NLRP3, PRKAR1A, PTPN11, PLG, MTOR, FADD, JAK2, BLM, B2M, CREBBP, AKT2, IL6, STAR, CIITA, HLA-DQB1, GATA1, IRS1, FBP1, DCTN1, CASP8, CD44, BCL10, PIK3CA, TP53, HSPD1, CDH1, HRAS, FLNC, EGFR, MYH9, PTPN1, IFNG, ACTB, PRSS1, TNFRSF10B, OAS1, PIK3R5, TNFRSF1A, ARHGDIA, STAT3, TNNI3, STAT2, BTK, TINF2, INS, IGF1, RB1, PIK3R1

MULLERIAN APLASIA AND HYPERANDROGENISM, BARAITSER-WINTER SYNDROME 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, HYPERPARATHYROIDISM 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, 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, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, COMPLEMENT FACTOR D DEFICIENCY, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CAFFEY DISEASE, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, DYSAUTONOMIA, FAMILIAL, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ?PROGESTERONE RESISTANCE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, IMMUNODEFICIENCY 43, ATAXIA-TELANGIECTASIA-LIKE DISORDER, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, PERIODIC FEVER, FAMILIAL, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, HYPERFERRITINEMIA-CATARACT SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, DIAMOND-BLACKFAN ANEMIA 6, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, SELECTIVE T-CELL DEFECT, MULTIPLE ENDOCRINE NEOPLASIA 1, RABSON-MENDENHALL SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, POLYCYTHEMIA VERA, SOMATIC, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, SMALL CELL CANCER OF THE LUNG, SOMATIC, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, TUBEROUS SCLEROSIS 2, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PLASMA FIBRONECTIN DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, [PREMATURE CHROMATID SEPARATION TRAIT], PAPILLORENAL SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, LEUKOCYTE ADHESION DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, IMMUNODEFICIENCY, COMMON VARIABLE, 4, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, OSTEOLYSIS, FAMILIAL EXPANSILE, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, ATAXIA-OCULOMOTOR APRAXIA 3, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, SMITH-KINGSMORE SYNDROME, {CELIAC DISEASE, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

SOD1, BRCA2, CAV1, TNNI3, MYC, PRKACA, ACTB, GNAS, CIITA, COL1A2, RPL5, FTL, PPARG, CDH1, B2M, PGR, CDKN2A, COL1A1, PIK3CA, NOTCH1, PRF1, HNRNPA1, WNT4, SMAD4, CREBBP, BCKDHA, GNAI2, IL2RG, MITF, ACTA1, CSF2RB, KRAS, TNFRSF13C, HLA-DQA1, EGFR, SERPINA1, SLC9A3R1, WRN, NOS3, THRA, BUB1B, MTOR, FGFR1, MECP2, AKT2, IFNG, MRE11A, LYZ, CCND1, JAK2, HLA-DRB1, NKX2-1, MEN1, GDNF, HSPD1, TNFRSF1A, SPRY2, RB1, TNFRSF11A, STAT3, INS, PAX8, GATA1, CAV3, CD44, ITGB3, AGL, CTNNB1, IGF1, PAX2, STAT1, SLC2A1, CASR, NFKB2, BMP2, FOXP3, BRCA1, ITGB2, FN1, MMP2, AXIN1, CFTR, TP53, IRS2, SLC25A4, GLI3, POLD1, AKT1, TERT, PTEN, PIK3R5, ITGA6, COL2A1, NRAS, FLNA, CHEK2, PRKCSH, TGFB1, PTPN11, ATM, GATA4, RRAS2, IKBKAP, MT-CO2, INSR, HLA-B, TCF7L2, PLG, SOS1, UQCRC2, DNMT1, IL6, ZHX2, JAK3, CALR, APC, HRAS, HLA-DQB1, ZAP70, NR3C1, CFD, KDR, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, HARTSFIELD SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, POLYCYTHEMIA VERA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, PEPCK DEFICIENCY, MITOCHONDRIAL, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, MODY, TYPE II, GLYCOGEN STORAGE DISEASE VI, LEPRECHAUNISM, ATAXIA-OCULOMOTOR APRAXIA 3, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MCARDLE DISEASE, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, GLYCOGEN STORAGE DISEASE IA, RUBINSTEIN-TAYBI SYNDROME, NEPHROTIC SYNDROME, TYPE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, MUSCLE GLYCOGENOSIS, GLYCOGEN STORAGE DISEASE 0, LIVER, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, SHORT SYNDROME, MYOPATHY, DISTAL, 4, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ACETYL-COA CARBOXYLASE DEFICIENCY, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HYPER-IGE RECURRENT INFECTION SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, ?PROGESTERONE RESISTANCE, GLYCOGEN STORAGE DISEASE IXC, PYRUVATE KINASE DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, IMMUNODEFICIENCY 8, TUBEROUS SCLEROSIS 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, RABSON-MENDENHALL SYNDROME, TUBEROUS SCLEROSIS-1, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME

ACTA1, PLIN1, TSC2, FLNC, PHKB, KRAS, TP53, NRAS, MYC, IGF1, PHKA2, PYGM, PYGL, AKT1, PHKG2, PHKA1, PKLR, INSR, VCP, BCL10, CORO1A, FGFR1, TSC1, NHLRC1, PPP1R3A, PRKAR1A, NOS3, AKT2, MTOR, PCK2, JAK2, GYS2, ACACA, BRCA1, STK11, PGR, IGF1R, LIPE, NPHS1, IRS2, SLC2A4, INS, FBP1, G6PC, DNM2, PIK3CA, NOTCH1, SOS1, HRAS, EGFR, SPRY2, PTPN1, PRKACA, HK1, IRS1, MYH11, CREBBP, PIK3R5, STAT3, CFTR, ITPR2, BRAF, MAPK8IP1, KIT, PCK1, GCK, PIK3R1

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, GLUCOCORTICOID RESISTANCE, POLYCYTHEMIA VERA, SOMATIC, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, MODY, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEPRECHAUNISM, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, IMMUNODEFICIENCY 44, SHORT SYNDROME, OSTEOLYSIS, FAMILIAL EXPANSILE, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, HYPOPARATHYROIDISM FAMILIAL ISOLATED, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, ATAXIA-OCULOMOTOR APRAXIA 3, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, FANCONI-BICKEL SYNDROME, RABSON-MENDENHALL SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, GALACTOSEMIA, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, SEGAWA SYNDROME, RECESSIVE, SMITH-KINGSMORE SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

NRAS, CTNNB1, SLC2A2, TP53, TH, PIK3R5, AKT1, BCL10, STAT1, IL6, GCK, INSR, AKT2, GALT, KRAS, LHCGR, CCND1, PTH, JAK2, GATA4, INS, PIK3CA, SOS1, HRAS, EGFR, SPRY2, TSHR, POR, IRS1, TNFRSF11A, NR3C1, STAT3, STAT2, CYP17A1, MTOR, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, POLYCYTHEMIA VERA, SOMATIC, HYPER-IGE RECURRENT INFECTION SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ANDROGEN INSENSITIVITY, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), SHORT SYNDROME, SELECTIVE T-CELL DEFECT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, C3 DEFICIENCY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, GLANZMANN THROMBASTHENIA, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, VON WILLEBRAND DISEASE, PLATELET-TYPE, KNIEST DYSPLASIA, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY, COMMON VARIABLE, 6, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, CALCIUM OXALATE UROLITHIASIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, IMMUNODEFICIENCY, COMMON VARIABLE, 5, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PLASMA FIBRONECTIN DEFICIENCY, IMMUNODEFICIENCY 43, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ACUTE MYELOID LEUKEMIA, M6 TYPE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

CSF2RB, AR, ITGB3, ZAP70, IL4R, MYC, IGF1, GP9, GP1BA, PIK3CA, PTPN11, GP1BB, CR2, HLA-DRB1, IL6, AGT, CD46, CD19, HLA-B, FLNA, IL1RN, ITGA2B, FN1, IFNG, B2M, ITGA6, THPO, JAK2, IGHM, ITGA3, PRF1, PLAU, CD44, KDR, C3, AKT1, MS4A1, FASLG, CALR, NHP2, MYH11, CD59, SELP, STAT3, COL2A1, KIT, CD81, EPOR, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, PENDRED'S SYNDROME, HYPOMAGNESEMIA 2, RENAL, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, HYPERPROLINEMIA, TYPE I, HYPERTHYROIDISM, NONAUTOIMMUNE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THYROID DYSHORMONOGENESIS 2A, THYROID DYSHORMONOGENESIS 4, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ALZHEIMER DISEASE-2, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, THRYOID DYSHORMONOGENESIS 6, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, SMALL CELL CANCER OF THE LUNG, SOMATIC, THYROID DYSHORMONOGENESIS 5, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, THYROTROPIN-RELEASING HORMONE DEFICIENCY, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, THYROID DYSHORMONOGENESIS 3, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IA, SEA-BLUE HISTIOCYTE DISEASE, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SMITH-KINGSMORE SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, THYROID DYSHORMONOGENESIS 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, NOONAN SYNDROME 4

APOE, SLC5A5, HNF1B, IGF1, CREBBP, GNAS, PRODH, ATM, CDKN2A, AGT, MTOR, PPARG, FXYD2, PRKACA, TG, DUOX2, AKT1, BMP2, ITPR2, IL6, NKX2-1, TRH, SLC26A4, DUOXA2, IYD, SOS1, HRAS, LRP2, TSHB, TSHR, RB1, ITPR3, HCFC1, SLC9A3R1, SELP, POU1F1, CFTR, PAX8, GNAI2, INS, GPX1, TPO

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, HARTSFIELD SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11B, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PEPCK DEFICIENCY, MITOCHONDRIAL, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MODY, TYPE II, LEPRECHAUNISM, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PEROXISOME BIOGENESIS DISORDER 2B, BANNAYAN-RILEY-RUVALCABA SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, GLYCOGEN STORAGE DISEASE IA, RUBINSTEIN-TAYBI SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, CPT DEFICIENCY, HEPATIC, TYPE IA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ACETYL-COA CARBOXYLASE DEFICIENCY, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, SMALL CELL CANCER OF THE LUNG, SOMATIC, MALONYL-COA DECARBOXYLASE DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE I, OSTEOLYSIS, FAMILIAL EXPANSILE, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, HYPER-IGE RECURRENT INFECTION SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PSEUDOHYPOALDOSTERONISM, TYPE IIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, MYOPATHY, DISTAL, 4, TUBEROUS SCLEROSIS 2, ATAXIA-OCULOMOTOR APRAXIA 3, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, GLYCOGEN STORAGE DISEASE VII, RABSON-MENDENHALL SYNDROME, TUBEROUS SCLEROSIS-1, MYOPATHY, MYOFIBRILLAR, 5, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, GLYCOGEN STORAGE DISEASE 0, LIVER, SMITH-KINGSMORE SYNDROME, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY

PEX5, TSC2, MLYCD, FGFR1, TP53, MYC, SMAD4, PTEN, PIK3R5, FLNC, G6PC, NOS3, PPARG, CREBBP, VCP, PCK1, GCK, APPL1, TSC1, HNF4A, INSR, WNK1, AKT2, MTOR, PCK2, CPT1A, GYS2, CCND1, ACACA, STK11, SLC2A4, IGF1R, RB1, LIPE, PEX13, SCNN1A, HCFC1, PFKM, PIK3CA, AKT1, HRAS, EGFR, PRKACA, GPD1, TNFRSF11A, FBP1, NR3C1, IRS2, STAT3, CDH1, CFTR, ATIC, NOTCH1, INS, IGF1, IRS1, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, DIHYDROPYRIMIDINURIA, MALONYL-COA DECARBOXYLASE DEFICIENCY, GABA-TRANSAMINASE DEFICIENCY, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, GALACTOSE EPIMERASE DEFICIENCY, TRIFUNCTIONAL PROTEIN DEFICIENCY, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ?FANCONI RENOTUBULAR SYNDROME 3, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, BETA-UREIDOPROPIONASE DEFICIENCY, BURKITT LYMPHOMA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, EPILEPSY, PYRIDOXINE-DEPENDENT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, SJOGREN-LARSSON SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

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

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BARAITSER-WINTER SYNDROME 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, HYPERLYSINEMIA, ?ACAT2 DEFICIENCY, BECKWITH-WIEDEMANN SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ANDROGEN INSENSITIVITY, TRIFUNCTIONAL PROTEIN DEFICIENCY, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, SACCHAROPINURIA, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, ?FANCONI RENOTUBULAR SYNDROME 3, GLUTARICACIDURIA, TYPE I, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, BRUCK SYNDROME 2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, SMALL CELL CANCER OF THE LUNG, SOMATIC, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 3, LYSYL HYDROXYLASE 3 DEFICIENCY, {AUTISM, SUSCEPTIBILITY TO, X-LINKED 6}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ALPHA-METHYLACETOACETIC ACIDURIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, EPILEPSY, PYRIDOXINE-DEPENDENT, EHLERS-DANLOS SYNDROME, TYPE VI, RUBINSTEIN-TAYBI SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SJOGREN-LARSSON SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6

ACTB, ACAT1, CTNNB1, MYC, AR, ALDH7A1, THRA, HADH, AASS, PLOD3, NSD1, ALDH3A2, HADHA, HADHB, PLOD1, ACTN4, SETD1A, EHHADH, PLOD2, ACAT2, GCDH, OGDH, RB1, ECHS1, CREBBP, TMLHE, RPS24, ALDH2

POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, HYPER-IGE RECURRENT INFECTION SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, LEUKOTRIENE C4 SYNTHASE DEFICIENCY, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, GLUTARICACIDURIA, TYPE I, CEROID LIPOFUSCINOSIS NEURONAL 6, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, MIYOSHI MUSCULAR DYSTROPHY 1, MOLYBDENUM COFACTOR DEFICIENCY A, HPRT-RELATED GOUT, HYPOPARATHYROIDISM FAMILIAL ISOLATED, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, MEDULLARY CYSTIC KIDNEY DISEASE 1, HEMOCHROMATOSIS TYPE 1, ALPHA-METHYLACETOACETIC ACIDURIA, ?PROGESTERONE RESISTANCE, ?UROCANASE DEFICIENCY, ?REYNOLDS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, MANDIBULOACRAL DYSPLASIA, ATAXIA-TELANGIECTASIA-LIKE DISORDER, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, VAN BUCHEM DISEASE, TYPE 2, ATRIOVENTRICULAR SEPTAL DEFECT 3, [FRUCTOSURIA], PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, MEND SYNDROME, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, LIPOYLTRANSFERASE 1 DEFICIENCY, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, [BILIRUBIN, SERUM LEVEL OF, QTL1], MUCOPOLYSACCHARIDOSIS II, RETINITIS PIGMENTOSA 10, CK SYNDROME, NEPHROTIC SYNDROME, TYPE 8, ATRANSFERRINEMIA, BRUNNER SYNDROME, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PYRUVATE CARBOXYLASE DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, CITRULLINEMIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, EPILEPSY, PYRIDOXINE-DEPENDENT, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, PARAGANGLIOMAS 3, INFANTILE NEUROAXONAL DYSTROPHY 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, GALACTOSE EPIMERASE DEFICIENCY, ARTS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, COPROPORPHYRIA, HARDEROPORPHYRIA, TRIFUNCTIONAL PROTEIN DEFICIENCY, HYPER-IGD SYNDROME, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, LIANG DISTAL MYOPATHY, ?N-ACETYLASPARTATE DEFICIENCY, UV-SENSITIVE SYNDROME 2, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS VII, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, XANTHINURIA, TYPE I, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, {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, MENTAL RETARDATION, X-LINKED 63, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, SENGERS SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, [GILBERT SYNDROME], HYPERPROLINEMIA, TYPE II, MYASTHENIC SYNDROME, CONGENITAL, 16, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, GALACTOSEMIA, TYROSINEMIA, TYPE I, MALONYL-COA DECARBOXYLASE DEFICIENCY, HYPERLYSINEMIA, PEROXISOME BIOGENESIS DISORDER 11B, HMG-COA SYNTHASE-2 DEFICIENCY, GABA-TRANSAMINASE DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CPT DEFICIENCY, HEPATIC, TYPE II, COENZYME Q10 DEFICIENCY, PRIMARY, 3, SACCHAROPINURIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, MCARDLE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, ANEMIA, SIDEROBLASTIC, 1, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ?DIARRHEA 7, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, TYROSINEMIA, TYPE II, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, MUCOPOLYSACCHARIDOSIS IVA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], NEPHRONOPHTHISIS 1, JUVENILE, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, COCKAYNE SYNDROME, TYPE A, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, [HISTIDINEMIA], SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BARTH SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MEDNIK SYNDROME, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, GLANZMANN THROMBASTHENIA, D-BIFUNCTIONAL PROTEIN DEFICIENCY, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, AMINOACYLASE 1 DEFICIENCY, MUCOPOLYSACCHARIDOSIS IS, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, CEREBROOCULOFACIOSKELETAL SYNDROME 4, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPOPHOSPHATASIA, INFANTILE, ALBINISM, OCULOCUTANEOUS, TYPE III, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, TYROSINEMIA, TYPE III, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, ATAXIA-TELANGIECTASIA, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, THYROID DYSHORMONOGENESIS 2A, PERIODIC FEVER, FAMILIAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CUTIS LAXA, AUTOSOMAL DOMINANT 3, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, DYSKERATOSIS CONGENITA, X-LINKED, PRIMARY PULMONARY HYPERTENSION, WRINKLY SKIN SYNDROME, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, GAUCHER DISEASE, TYPE IIIC, ACETYL-COA CARBOXYLASE DEFICIENCY, SEBASTIAN SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS IH, MALOUF SYNDROME, HARP SYNDROME, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SEGAWA SYNDROME, RECESSIVE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, GAUCHER DISEASE, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, FANCONI ANEMIA, COMPLEMENTATION GROUP C, DIHYDROPYRIMIDINURIA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE II, LACTASE DEFICIENCY, CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MODY, TYPE II, CRIGLER-NAJJAR SYNDROME, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, FRUCTOSE INTOLERANCE, NEPHROTIC SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, PARAGANGLIOMAS 4, LACTASE PERSISTENCE/NONPERSISTENCE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, ?MUCOPOLYSACCHARIDOSIS TYPE IX, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, BECKER MUSCULAR DYSTROPHY, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, GLYCOGEN STORAGE DISEASE VII, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), PITUITARY HORMONE DEFICIENCY, COMBINED, 3, KRABBE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PENDRED'S SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 11, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?N SYNDROME, BLOOM SYNDROME, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, GLUTATHIONE SYNTHETASE DEFICIENCY, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PYRUVATE DEHYDROGENASE E2 DEFICIENCY, LESCH-NYHAN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, HYPOBETALIPOPROTEINEMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ?HYDROXYKYNURENINURIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CPT II DEFICIENCY, LETHAL NEONATAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, XERODERMA PIGMENTOSUM, GROUP D, GAUCHER DISEASE, TYPE II, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SJOGREN-LARSSON SYNDROME, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, REVESZ SYNDROME, GLYCOGEN STORAGE DISEASE IV, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?ACAT2 DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, COENZYME Q10 DEFICIENCY, PRIMARY, 6, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, CEROID LIPOFUSCINOSIS, NEURONAL, 1, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FECHTNER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, BETA-UREIDOPROPIONASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), IMMUNODEFICIENCY 44, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, CALCIUM OXALATE UROLITHIASIS, METHYLMALONYL-COA EPIMERASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, GLUTAMINE DEFICIENCY, CONGENITAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, OROTIC ACIDURIA, HARTSFIELD SYNDROME, MEVALONIC ACIDURIA, HMG-COA LYASE DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), GLYCOGEN STORAGE DISEASE VI, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, POLYCYTHEMIA VERA, SOMATIC, GREENBERG SKELETAL DYSPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, DIAMOND-BLACKFAN ANEMIA 6, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, PEROXISOME BIOGENESIS DISORDER 2B, DIAMOND-BLACKFAN ANEMIA 9, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, BIOTINIDASE DEFICIENCY, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, BURKITT LYMPHOMA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BURN-MCKEOWN SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, CARDIAC VALVULAR DYSPLASIA, X-LINKED, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE IIID, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, POLYGLUCOSAN BODY DISEASE, ADULT FORM, GLOMUVENOUS MALFORMATIONS, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, PLASMA FIBRONECTIN DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CANAVAN DISEASE, CYSTATHIONINURIA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CPT DEFICIENCY, HEPATIC, TYPE IA, PHYTANIC ACID STORAGE DISEASE, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, MAY-HEGGLIN ANOMALY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, HYPERPROLINEMIA, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, LEUKOCYTE ADHESION DEFICIENCY, NEPHROTIC SYNDROME, TYPE 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HYPERPARATHYROIDISM 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, MULTIPLE SULFATASE DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, HEPATIC LIPASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, ADENYLOSUCCINASE DEFICIENCY, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, GLUCOCORTICOID RESISTANCE, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, [SARCOSINEMIA], ALBINISM, OCULOCUTANEOUS, TYPE IA, HYPERCALCEMIA, INFANTILE, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, FARBER LIPOGRANULOMATOSIS, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, GALACTOKINASE DEFICIENCY WITH CATARACTS, PSEUDOHYPOPARATHYROIDISM IA, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, [PENTOSURIA], MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, LOWE SYNDROME, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, SMITH-LEMLI-OPITZ SYNDROME, ONCOCYTOMA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEBER OPTIC ATROPHY AND DYSTONIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 7, DESMOSTEROLOSIS, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, ENHANCED S-CONE SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PYRUVATE KINASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, COWCHOCK SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, ALKAPTONURIA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), GLYCOGEN STORAGE DISEASE IA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, ARGININEMIA, CEREBROTENDINOUS XANTHOMATOSIS, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, CAFFEY DISEASE, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, CRIGLER-NAJJAR SYNDROME, TYPE II, GLYCINE ENCEPHALOPATHY, GLYCOGEN STORAGE DISEASE II, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, XERODERMA PIGMENTOSUM, TYPE 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, GAUCHER DISEASE, TYPE III, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LATHOSTEROLOSIS, PERRAULT SYNDROME 5, CHILD SYNDROME, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, IMMUNODEFICIENCY 8, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, GLYCOGEN STORAGE DISEASE X, MYOPATHY DUE TO CPT II DEFICIENCY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, ISOVALERIC ACIDEMIA, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, ALEXANDER DISEASE, HYPOPHOSPHATASIA, CHILDHOOD, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GLUCOCORTICOID DEFICIENCY 4, GM1-GANGLIOSIDOSIS, TYPE III, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, HAWKINSINURIA, MUCOPOLYSACCHARIDOSIS IH/S, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ASPARAGINE SYNTHETASE DEFICIENCY, MYOGLOBINURIA, RECURRENT, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ?GLYCOGEN STORAGE DISEASE XIII, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY, [ACETYLATION, SLOW], SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DENT DISEASE 2, NONAKA MYOPATHY, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

UROD, DNA2, HBB, AMACR, GLMN, SLC34A1, GPT2, ACADS, LBR, GNAS, ATP6V1B1, GUSB, ENPP1, POLD1, GSS, ALG3, NSDHL, GLYCTK, GALK1, LHX3, RANBP2, DPM2, FH, NAGS, AGK, G6PC, WNK1, POR, CYB5R3, PIGW, PIGM, HGD, LIPT1, DGKE, PHKB, ATP6V0A2, KL, AR, ENO3, IDS, ALDH7A1, THPO, ABAT, ASAH1, MT-ND6, HMGA1, MGAT2, BTD, ALAD, ASS1, MRE11A, AIFM1, STT3A, CCND1, JAK2, RPL5, SUCLA2, PAPSS2, MAT1A, SGSH, GALNT3, HSPD1, MT-CYB, RPS10, NDUFA1, TNNT2, ALAS2, CYP21A2, HTR2A, NAT8L, NDUFA10, GAMT, NDUFS7, MT-CO1, CAV3, BANF1, ALDOA, AGL, CTNNB1, PRPS1, ALDH4A1, SUFU, NDUFA12, PIGY, MCEE, ASNS, PYCR1, CTSD, NARS2, VMA21, GLDC, DBH, NDUFA2, AKT1, TPI1, TANGO2, NPHS1, ABCB7, COX15, ACAT2, ERCC8, PEX13, FANCA, GNE, PEX5, ECHS1, ADK, POLA1, HMBS, DPM1, LRP5, HINT1, LIPA, GRHPR, LHCGR, NPHP1, PTPN11, GATA4, HPD, COMT, MT-CO2, NDUFS4, TPK1, ALG1, DCXR, EHHADH, GMPPA, CALR, AMT, BCO1, EGFR, DHCR24, NR0B1, IVD, PNPLA2, NR3C1, SDHB, GCH1, PCK1, HADHB, SURF1, MMAB, PEX14, MLYCD, APOB, MYC, CPT2, PGAM2, PGK1, MOCS2, DGUOK, PCCB, SSR4, CCT5, PNPO, ACY1, MCCC2, IDUA, BAAT, HADH, DYSF, MT-CO3, BCKDHB, PCCA, GALNS, CYP11B1, CDC73, DLD, IRS1, CAPN3, NR2E3, UQCRB, GNAI2, MAOA, RYR2, OCRL, SPR, DDC, MMP2, ALDOB, SLC26A4, DRD3, PSPH, NME1, MPI, HBA1, NOTCH1, CBS, CORO1A, GPI, POLG, PRODH, ZHX2, GK, EARS2, PTH, NRAS, LIPC, TCIRG1, TF, MCPH1, SI, XDH, FGF23, STAT3, HMGCS2, BRAF, SLC26A3, SLC35A2, NDUFS3, DMD, PIGR, NCF1, B4GALT7, ALPL, NDUFB3, MT-ATP6, IGF1, SMAD9, CYP27B1, SC5D, GMPPB, TAZ, AASS, BMP2, ALDH3A2, HMGCL, DMGDH, TXNL4A, VDR, FGFR1, NAGLU, MUT, COQ9, COQ6, DGAT1, HK1, QDPR, GCLC, MT-ND3, NDUFV1, OTC, KRT8, PTS, PDHX, PRKCSH, SARDH, PGM1, TYMP, FTH1, IGF1R, MTR, HADHA, PLG, ETFA, NDUFB9, DNMT1, FCGR2B, ACTN4, AMPD1, B4GALT1, TMEM199, DHFR, ASPA, ADA, ALDH18A1, FKBP14, CDH1, NDUFS2, C10orf2, MTOR, ATIC, LMNA, TNNI3, LCT, UGT1A1, ADSL, SDHC, CYP27A1, HEXB, MUC1, CYP11B2, CAV1, CTH, AGT, PMM2, MOGS, MTHFR, ALG11, PCK2, MCM6, DPYS, TAT, FBP1, COL1A1, FANCM, PIK3CA, UGT1A4, ACSL4, SIL1, GFPT1, COX8A, LDLR, NUBPL, GBE1, UROC1, CASP8, COQ4, PLCE1, GRN, NOS3, MAPT, CAD, ALDH6A1, HEXA, NNT, GALT, ABCA1, ARG1, GAA, MET, HSD17B3, CD44, DPYD, UQCRQ, PTPN1, ALDH5A1, ALG6, DNM2, COX14, PANK2, DKC1, HAO1, INS, MOCS1, TYRP1, GFAP, TPO, PFKM, TYR, DAO, ACAT1, SMPD1, HSD17B10, SDHD, VHL, HNF4A, TNFRSF1A, PPOX, ITGB2, STT3B, FN1, COQ2, ATP5A1, MT-ND1, FECH, DBT, MTAP, MCCC1, NDUFA9, ACADSB, UPB1, FGFR3, SLC9A3R1, POLG2, STAT2, TK2, GPD1, FAH, LIAS, PDSS2, MYH7, AGPS, DHCR7, IL4R, MT-ND4, SDHA, MYH9, TGFB1, GATM, SLC33A1, PPT1, GBA, SUCLG1, TRH, DLAT, HRAS, KHK, IRS2, CD27, AGPAT2, PEX7, TINF2, CYP17A1, TUFM, ALG13, NDUFS8, HLCS, PIGV, APRT, PRPH, ACOX1, NDUFA11, PIGT, ERCC1, COQ7, EBP, ITGB3, SLCO1B1, PPARG, INSR, OAT, HIBCH, HPRT1, BTK, COX6B1, SCO2, NEU1, ALG2, HAL, ERCC2, SMAD4, AUH, ARHGDIA, UMPS, BLM, MT-ND2, DNMT3B, IMPDH1, RRM2B, CYP2R1, APOA2, PIGO, KRAS, TP53, PLA2G7, HYAL1, CPOX, LMNB1, IL6, LPIN1, AKR1D1, RYR1, LTC4S, CRX, PGR, AGXT, HELLS, BCKDHA, MRPL44, IFNG, LDHA, EPHX2, AP1S1, CD81, GCDH, CLPB, GNS, PCBD1, ACADVL, CYP24A1, GLUD1, BPGM, ALDH2, BMPR2, DPAGT1, GJA1, FTCD, AHSG, BCS1L, KYNU, VWF, MECP2, MVK, CYP2A6, GCK, PYGM, TSC2, UROS, GALE, NDUFS1, MRPL3, BRCA1, VCP, UQCRC2, SEC63, FASLG, NDUFS6, PLAU, CYP2C9, RPIA, PSAT1, ARSB, GCSH, OGDH, ACADM, TH, DDOST, AXIN1, HGSNAT, SKIV2L, LYRM4, PAH, SUMF1, NHP2, XPA, FLNA, ACACA, HCCS, HSD17B4, NT5C3A, ASL, PDHA1, PYGL, ATM, AHCY, GLB1, ETFB, CHKB, FXN, NAT2, GALC, PKLR, NDUFV2, CPS1, KDR, CPT1A, GNPAT, GLUL, FANCC, MT-ND5, PLA2G6, PEX19, PNP, POLR2F, DOLK, PIGA, CYC1, MYH11, PHGDH, MTHFD1, SELP, B4GAT1, HSD3B7, PC, COX10, PIGN, PIK3R1

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, HYPER-IGE RECURRENT INFECTION SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, MANNOSIDOSIS, ALPHA-, TYPES I AND II, {THIOPURINES, POOR METABOLISM OF, 1}, LEUKOTRIENE C4 SYNTHASE DEFICIENCY, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, GLUTARICACIDURIA, TYPE I, CEROID LIPOFUSCINOSIS NEURONAL 6, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, {HYPERCALCIURIA, ABSORPTIVE, SUSCEPTIBILITY TO}, MIYOSHI MUSCULAR DYSTROPHY 1, MOLYBDENUM COFACTOR DEFICIENCY A, HPRT-RELATED GOUT, HYPOPARATHYROIDISM FAMILIAL ISOLATED, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, BOUCHER-NEUHAUSER SYNDROME, MEDULLARY CYSTIC KIDNEY DISEASE 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3, ALPHA-METHYLACETOACETIC ACIDURIA, ?PROGESTERONE RESISTANCE, ?UROCANASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, ?REYNOLDS SYNDROME, ALPHA-2-MACROGLOBULIN DEFICIENCY, MANDIBULOACRAL DYSPLASIA, ATAXIA-TELANGIECTASIA-LIKE DISORDER, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, [FRUCTOSURIA], HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, VAN BUCHEM DISEASE, TYPE 2, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY, MEND SYNDROME, PEPCK DEFICIENCY, MITOCHONDRIAL, BECKWITH-WIEDEMANN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, RENAL TUBULAR ACIDOSIS, DISTAL, AD, LIPOYLTRANSFERASE 1 DEFICIENCY, HYPERCHLORHIDROSIS, ISOLATED, PLASMA FIBRONECTIN DEFICIENCY, SPHEROCYTOSIS, TYPE 4, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, [BILIRUBIN, SERUM LEVEL OF, QTL1], MUCOPOLYSACCHARIDOSIS II, RETINITIS PIGMENTOSA 10, CK SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ATRANSFERRINEMIA, BRUNNER SYNDROME, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, FLOATING-HARBOR SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), HYPERBILIVERDINEMIA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PYRUVATE CARBOXYLASE DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, CITRULLINEMIA, {AUTISM, SUSCEPTIBILITY TO, X-LINKED 6}, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, EPILEPSY, PYRIDOXINE-DEPENDENT, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, LYSYL HYDROXYLASE 3 DEFICIENCY, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, PARAGANGLIOMAS 3, INFANTILE NEUROAXONAL DYSTROPHY 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MALONYL-COA DECARBOXYLASE DEFICIENCY, ARTS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, HYPERLYSINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, HYPER-IGD SYNDROME, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIANG DISTAL MYOPATHY, ?N-ACETYLASPARTATE DEFICIENCY, UV-SENSITIVE SYNDROME 2, HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS VII, HEMOCHROMATOSIS, TYPE 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, XANTHINURIA, TYPE I, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CARPAL TUNNEL SYNDROME, FAMILIAL, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, MENTAL RETARDATION, X-LINKED 63, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, SENGERS SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, HEMOCHROMATOSIS TYPE 1, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, [GILBERT SYNDROME], HYPERPROLINEMIA, TYPE II, TRIMETHYLAMINURIA, MYASTHENIC SYNDROME, CONGENITAL, 16, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, LEBER CONGENITAL AMAUROSIS 1, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, GALACTOSEMIA, TYROSINEMIA, TYPE I, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, LIPOPROTEIN LIPASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, ASPARTYLGLUCOSAMINURIA, HMG-COA SYNTHASE-2 DEFICIENCY, GABA-TRANSAMINASE DEFICIENCY, NORUM DISEASE, IMMUNODEFICIENCY 8, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CPT DEFICIENCY, HEPATIC, TYPE II, KANZAKI DISEASE, COENZYME Q10 DEFICIENCY, PRIMARY, 3, SACCHAROPINURIA, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, MCARDLE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, EHLERS-DANLOS SYNDROME, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), ANEMIA, SIDEROBLASTIC, 1, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, 2-METHYLBUTYRYLGLYCINURIA, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ?DIARRHEA 7, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, TYROSINEMIA, TYPE II, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, MUCOPOLYSACCHARIDOSIS IVA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], BARAITSER-WINTER SYNDROME 1, NEPHRONOPHTHISIS 1, JUVENILE, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, COCKAYNE SYNDROME, TYPE A, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, [HISTIDINEMIA], SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, BARTH SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, COMBINED FACTOR V AND VIII DEFICIENCY, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, GLANZMANN THROMBASTHENIA, D-BIFUNCTIONAL PROTEIN DEFICIENCY, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, AMINOACYLASE 1 DEFICIENCY, MUCOPOLYSACCHARIDOSIS IS, CEREBROOCULOFACIOSKELETAL SYNDROME 4, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPOPHOSPHATASIA, INFANTILE, ALBINISM, OCULOCUTANEOUS, TYPE III, ARGININOSUCCINIC ACIDURIA, PROPIONICACIDEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, TYROSINEMIA, TYPE III, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, THYROID DYSHORMONOGENESIS 2A, PERIODIC FEVER, FAMILIAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CUTIS LAXA, AUTOSOMAL DOMINANT 3, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, DYSKERATOSIS CONGENITA, X-LINKED, PRIMARY PULMONARY HYPERTENSION, WRINKLY SKIN SYNDROME, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, GAUCHER DISEASE, TYPE IIIC, ACETYL-COA CARBOXYLASE DEFICIENCY, SEBASTIAN SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS IH, MALOUF SYNDROME, HARP SYNDROME, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SEGAWA SYNDROME, RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, GAUCHER DISEASE, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, FANCONI ANEMIA, COMPLEMENTATION GROUP C, DIHYDROPYRIMIDINURIA, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, MEDNIK SYNDROME, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE II, LACTASE DEFICIENCY, CONGENITAL, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2, DUCHENNE MUSCULAR DYSTROPHY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MODY, TYPE II, CRIGLER-NAJJAR SYNDROME, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, CEREBROTENDINOUS XANTHOMATOSIS, FRUCTOSE INTOLERANCE, NEPHROTIC SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, LEIOMYOMATOSIS AND RENAL CELL CANCER, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LACTASE PERSISTENCE/NONPERSISTENCE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, GLYCEROL KINASE DEFICIENCY, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, ?MUCOPOLYSACCHARIDOSIS TYPE IX, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, RENAL TUBULAR ACIDOSIS, DISTAL, AR, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, BECKER MUSCULAR DYSTROPHY, IMMUNODEFICIENCY 23, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, EPSTEIN SYNDROME, EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE VII, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), APPARENT MINERALOCORTICOID EXCESS, BIOTINIDASE DEFICIENCY, KRABBE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, CEROID LIPOFUSCINOSIS, NEURONAL, 11, ICHTHYOSIS, X-LINKED, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, BLOOM SYNDROME, NEPHROTIC SYNDROME, TYPE 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, GLUTATHIONE SYNTHETASE DEFICIENCY, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, LESCH-NYHAN SYNDROME, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, PHOSPHOSERINE PHOSPHATASE DEFICIENCY, HYPOBETALIPOPROTEINEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ?HYDROXYKYNURENINURIA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CPT II DEFICIENCY, LETHAL NEONATAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, XERODERMA PIGMENTOSUM, GROUP D, GAUCHER DISEASE, TYPE II, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SJOGREN-LARSSON SYNDROME, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, REVESZ SYNDROME, GLYCOGEN STORAGE DISEASE IV, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?ACAT2 DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, CEREBRAL CREATINE DEFICIENCY SYNDROME 2, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DIARRHEA 6, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), GALACTOSE EPIMERASE DEFICIENCY, CHILD SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 6, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, CEROID LIPOFUSCINOSIS, NEURONAL, 1, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, GLYCINE N-METHYLTRANSFERASE DEFICIENCY, FECHTNER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, BETA-UREIDOPROPIONASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), IMMUNODEFICIENCY 44, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, ALZHEIMER DISEASE, TYPE 4, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4, FUCOSIDOSIS, CALCIUM OXALATE UROLITHIASIS, METHYLMALONYL-COA EPIMERASE DEFICIENCY, IMMUNODEFICIENCY 43, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLUTAMINE DEFICIENCY, CONGENITAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}, OROTIC ACIDURIA, HARTSFIELD SYNDROME, MEVALONIC ACIDURIA, HMG-COA LYASE DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), GLYCOGEN STORAGE DISEASE VI, PARAGANGLIOMAS 4, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, CEREBROOCULOFACIOSKELETAL SYNDROME 3, LEPRECHAUNISM, PEROXISOME BIOGENESIS DISORDER 2B, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, POLYCYTHEMIA VERA, SOMATIC, GREENBERG SKELETAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, DIAMOND-BLACKFAN ANEMIA 6, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, DIAMOND-BLACKFAN ANEMIA 9, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, FANCONI RENOTUBULAR SYNDROME 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, CEREBRAL CREATINE DEFICIENCY SYNDROME 3, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, PENDRED'S SYNDROME, CYSTATHIONINURIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BURKITT LYMPHOMA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BURN-MCKEOWN SYNDROME, VITAMIN D-DEPENDENT RICKETS, TYPE I, ETHYLMALONIC ENCEPHALOPATHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, GLYCOGEN STORAGE DISEASE 0, LIVER, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE IIID, SMALL CELL CANCER OF THE LUNG, SOMATIC, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ATELEIOTIC DWARFISM, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, GLYCOGEN STORAGE DISEASE X, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, POLYGLUCOSAN BODY DISEASE, ADULT FORM, GLOMUVENOUS MALFORMATIONS, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, FISH-EYE DISEASE, 5-OXOPROLINASE DEFICIENCY, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?N SYNDROME, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, CANAVAN DISEASE, COPROPORPHYRIA, HARDEROPORPHYRIA, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, D-GLYCERIC ACIDURIA, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, CPT DEFICIENCY, HEPATIC, TYPE IA, PHYTANIC ACID STORAGE DISEASE, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, MAY-HEGGLIN ANOMALY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, HYPEROXALURIA, PRIMARY, TYPE 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, HYPERPROLINEMIA, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LEUKOCYTE ADHESION DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE 2, NEPHROTIC SYNDROME, TYPE 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HYPERPARATHYROIDISM 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, MULTIPLE SULFATASE DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE I, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, MANNOSIDOSIS, BETA, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, HEPATIC LIPASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, ADENYLOSUCCINASE DEFICIENCY, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, GLUCOCORTICOID RESISTANCE, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, [SARCOSINEMIA], INTERSTITIAL LUNG AND LIVER DISEASE, ALBINISM, OCULOCUTANEOUS, TYPE IA, NONAKA MYOPATHY, HYPERCALCEMIA, INFANTILE, DIAMOND-BLACKFAN ANEMIA 3, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, FARBER LIPOGRANULOMATOSIS, DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, GALACTOKINASE DEFICIENCY WITH CATARACTS, PSEUDOHYPOPARATHYROIDISM IA, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, [PENTOSURIA], MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, LOWE SYNDROME, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, SMITH-LEMLI-OPITZ SYNDROME, ONCOCYTOMA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEBER OPTIC ATROPHY AND DYSTONIA, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 7, [GLYOXALASE II DEFICIENCY], DESMOSTEROLOSIS, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, SULFITE OXIDASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, ENHANCED S-CONE SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PYRUVATE KINASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, COWCHOCK SYNDROME, BRUCK SYNDROME 2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, ALKAPTONURIA, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), GLYCOGEN STORAGE DISEASE IA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, FACTOR X DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6, ARGININEMIA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, MACULAR CORNEAL DYSTROPHY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE, CAFFEY DISEASE, NIEMANN-PICK DISEASE, TYPE A, FUMARASE DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CRIGLER-NAJJAR SYNDROME, TYPE II, GLYCINE ENCEPHALOPATHY, GLYCOGEN STORAGE DISEASE II, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIP, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA, L-2-HYDROXYGLUTARIC ACIDURIA, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, XERODERMA PIGMENTOSUM, TYPE 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, GAUCHER DISEASE, TYPE III, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LATHOSTEROLOSIS, PERRAULT SYNDROME 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, METACHROMATIC LEUKODYSTROPHY, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, [CHITOTRIOSIDASE DEFICIENCY], MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3, MYOPATHY DUE TO CPT II DEFICIENCY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, ISOVALERIC ACIDEMIA, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, ALEXANDER DISEASE, HYPOPHOSPHATASIA, CHILDHOOD, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, COENZYME Q10 DEFICIENCY, PRIMARY, 2, GLUCOCORTICOID DEFICIENCY 4, GM1-GANGLIOSIDOSIS, TYPE III, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, [ACETYLATION, SLOW], {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 2, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, CRYOHYDROCYTOSIS, HAWKINSINURIA, MUCOPOLYSACCHARIDOSIS IH/S, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, MOLYBDENUM COFACTOR DEFICIENCY B, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ASPARAGINE SYNTHETASE DEFICIENCY, MYOGLOBINURIA, RECURRENT, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ?GLYCOGEN STORAGE DISEASE XIII, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DENT DISEASE 2, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, SMITH-KINGSMORE SYNDROME, PITUITARY HORMONE DEFICIENCY, COMBINED, 3

CA2, UROD, DNA2, SUOX, HBB, AMACR, GLMN, SLC34A1, GPT2, ACADS, LBR, CUL3, ATP6V1B1, GUSB, HAGH, ENPP1, POLD1, GSS, ETHE1, ALG3, GGCX, NSDHL, GLYCTK, B2M, GALK1, LHX3, RANBP2, DPM2, FH, NAGS, PNPT1, AGK, G6PC, POMGNT1, WNK1, POR, GYS2, CYB5R3, PIGW, CREBBP, HGD, LIPT1, RPS24, PTEN, PHKB, ATP6V0A2, BGLAP, KL, APOA1, CDKN3, AR, ENO3, IDS, GNAS, ALDH7A1, THRA, THPO, ABAT, ASAH1, MT-ND6, ADCY10, HMGA1, MGAT2, BTD, ALAD, IFNG, MRE11A, AIFM1, STT3A, CCND1, JAK2, RPL5, SUCLA2, PAPSS2, MAT1A, SGSH, GALNT3, HSPD1, MT-CYB, RPS10, NDUFA1, RYR1, TNNT2, ALAS2, CYP21A2, HTR2A, NAT8L, FAH, NDUFA10, GAMT, NDUFS7, MT-CO1, CHST6, CAV3, BANF1, TCIRG1, ALDOA, AGL, CTNNB1, PRPS1, LIAS, SUFU, NDUFA12, PIGY, GNMT, SLC4A1, INSR, ASNS, PYCR1, PCK1, NARS2, VMA21, GLDC, SLC40A1, DBH, NDUFA2, AKT1, TPI1, SETD1A, TANGO2, NPHS1, ABCB7, LIPE, ACAT2, A2M, ERCC8, PEX13, SI, GNE, PEX5, ECHS1, STS, ADK, CHIT1, POLA1, HMBS, DPM1, LRP5, HINT1, GRHPR, LHCGR, NPHP1, PTPN11, LPL, NDUFA9, GMPPA, HPD, COMT, MT-CO2, PDSS1, SRD5A2, SRCAP, NDUFS4, TPK1, LCAT, DCXR, EHHADH, GATA4, ZMPSTE24, CALR, AMT, BCO1, EGFR, DHCR24, NR0B1, IVD, PNPLA2, NR3C1, SDHB, GCH1, HADHB, SURF1, UGT1A1, PEX14, MLYCD, APOB, MYC, CPT2, ACP2, PGK1, MOCS2, PSEN1, DGUOK, TERT, PCCB, PDE11A, CCT5, PNPO, ACY1, MCCC2, IDUA, MYH7, HADH, NPR2, MMAB, LMAN1, MT-CO3, BCKDHB, PCCA, GALNS, PTPN1, CYP11B1, CDC73, CD81, DLD, IRS1, NME1, NR2E3, GATM, GNAI2, MAOA, RYR2, OCRL, KYNU, DDC, MMP2, ALDOB, SLC26A4, DRD3, CYP7B1, GUCY2D, MPI, HBA1, NOTCH1, NAGA, CBS, CORO1A, GPI, AVP, POLG, PRODH, SUCLG1, GK, EARS2, PTH, NRAS, LIPC, MEN1, TF, L2HGDH, MCPH1, FANCA, XDH, RB1, FGF23, PIGM, STAT3, HMGCS2, BRAF, SLC26A3, SLC35A2, NDUFS3, DMD, PIGR, NCF1, NT5C3A, ALPL, NDUFB3, MT-ATP6, IGF1, ALG1, SMAD9, CYP27B1, SC5D, GMPPB, TAZ, AASS, BMP2, ALDH3A2, F10, HMGCL, GLUL, DMGDH, GBE1, TXNL4A, VDR, FGFR1, HSD11B2, NAGLU, MUT, ETFA, LIPA, LRP2, DGAT1, HK1, QDPR, GCLC, MT-ND3, NDUFV1, OTC, KRT8, MTFMT, TPMT, PDHX, PRKCSH, SARDH, PGM1, TYMP, FTH1, IGF1R, MTR, CD79A, PLG, COQ9, NDUFB9, DNMT1, FCGR2B, ACTN4, AMPD1, B4GALT1, CYP17A1, HCFC1, NDUFS6, AGA, DHFR, ASPA, EPHX1, ADA, ALDH18A1, CDH1, NDUFS2, C10orf2, GPD1, MTOR, ATIC, LMNA, TNNI3, LCT, STT3B, ADSL, SDHC, CYP27A1, HEXB, MUC1, CYP11B2, CAV1, CTH, AGT, PMM2, MOGS, MTHFR, ALG11, PCK2, MCM6, MANBA, DPYS, TAT, FBP1, COL1A1, FANCM, PIK3CA, UGT1A4, ACSL4, SIL1, HADHA, COX8A, FMO3, GFPT1, LDLR, NUBPL, ACTA1, ACTB, LIG4, UROC1, CASP8, COQ4, PLCE1, GRN, NOS3, MAPT, CAD, MYD88, ALDH6A1, HEXA, NNT, GALT, TK2, ABCA1, PLOD1, ARG1, PLOD3, HGSNAT, MET, HSD17B3, PFKM, ERCC5, FKBP14, UQCRQ, GUCY2C, ALDH5A1, ALG6, DNM2, CYP2D6, PANK2, DKC1, TMLHE, HAO1, INS, MOCS1, TYRP1, GFAP, TPO, EMD, CD44, TYR, DAO, ACAT1, SMPD1, HSD17B10, SDHD, B4GALT7, TXN2, VHL, HNF4A, DPYD, TNFRSF1A, PPOX, ITGB2, HIBCH, FN1, ACACA, ATP5A1, AKT2, PHGDH, PTS, FECH, DBT, MTAP, MCCC1, TSHR, ACADSB, AQP2, FGFR3, SLC9A3R1, POLG2, STAT2, COX10, RBP4, VKORC1, SSR4, MCEE, PDSS2, BAAT, AGPS, DHCR7, IL4R, COX14, MT-ND4, SDHA, MYH9, TGFB1, PNPLA6, POMT1, UQCRB, SLC33A1, PDE6B, PPT1, GBA, CA12, MARS2, PLOD2, TRH, DLAT, UPB1, HRAS, KHK, IRS2, CD27, AGPAT2, PSPH, ALDH4A1, PEX7, TINF2, TMEM199, TUFM, ALG13, ETFB, FUCA1, NDUFS8, HLCS, PIGV, OPLAH, CP, APRT, PRPH, ACOX1, SRD5A3, NDUFA11, PIGT, ERCC1, COQ7, BCAP31, EBP, ITGB3, SLCO1B1, PPARG, CD19, OAT, PRKAR1A, FTCD, HPRT1, BTK, MAN2B1, COX6B1, SCO2, NEU1, ALG2, TRIM32, HAL, ERCC2, SMAD4, AUH, ARHGDIA, UMPS, BLM, MT-ND2, DNMT3B, IMPDH1, RRM2B, CYP2R1, APOA2, PIGO, KRAS, TP53, CAPN3, PLA2G7, HYAL1, ZHX2, CPOX, LMNB1, IL6, LPIN1, AKR1D1, ARSA, LTC4S, COQ6, CRX, PGR, XRCC4, AGXT, ALDH2, HELLS, CPT1A, BCKDHA, COPA, MRPL44, GNPAT, ASS1, LDHA, EPHX2, AP1S1, THRB, GCDH, CLPB, POMT2, GNS, PCBD1, ACADVL, CYP24A1, GLUD1, BPGM, CTSD, BMPR2, TTR, DPAGT1, GJA1, DYSF, AHSG, BCS1L, SPR, VWF, MECP2, MVK, PGAM2, CYP2A6, GCK, PYGM, TSC2, FOXP3, UROS, GALE, NDUFS1, MRPL3, BRCA1, VCP, UQCRC2, SEC63, FASLG, PGM3, GPD2, PLAU, CYP2C9, RPIA, PSAT1, ARSB, GCSH, OGDH, ACADM, TH, DDOST, AXIN1, GAA, SKIV2L, LYRM4, PAH, SUMF1, NHP2, XPA, FLNA, COQ2, HCCS, HSD17B4, ASL, PDHA1, PYGL, ATM, AHCY, GLB1, NSD1, DISC1, B4GAT1, FXN, NAT2, GALC, PKLR, BLVRA, NDUFV2, CPS1, KDR, GPX1, MARS, GLA, CA5A, FANCC, MT-ND5, PLA2G6, PEX19, PNP, DGKE, POLR2F, DOLK, PIGA, CYC1, CFTR, MYH11, MT-ND1, MTHFD1, SELP, CHKB, HSD3B7, COX15, PC, PIGN, PIK3R1

MULLERIAN APLASIA AND HYPERANDROGENISM, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 5B, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B, HYPER-IGE RECURRENT INFECTION SYNDROME, HYPERFERRITINEMIA-CATARACT SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, FACTOR V DEFICIENCY, CEROID LIPOFUSCINOSIS NEURONAL 6, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, DANON DISEASE, MIYOSHI MUSCULAR DYSTROPHY 1, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, CEROID LIPOFUSCINOSIS, NEURONAL, 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ?PROGESTERONE RESISTANCE, SALLA DISEASE, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, LARON DWARFISM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, ?REYNOLDS SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE), MANDIBULOACRAL DYSPLASIA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY, GAUCHER DISEASE, TYPE IIIC, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, VAN BUCHEM DISEASE, TYPE 2, ATRIOVENTRICULAR SEPTAL DEFECT 3, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BECKWITH-WIEDEMANN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, C3 DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MICROVILLUS INCLUSION DISEASE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, MUCOPOLYSACCHARIDOSIS II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, CK SYNDROME, PEROXISOME BIOGENESIS DISORDER 14B, ATRANSFERRINEMIA, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MUCOPOLYSACCHARIDOSIS TYPE IIID, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, MYOPATHY, MYOFIBRILLAR, 5, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, WELANDER DISTAL MYOPATHY, TIMOTHY SYNDROME, NOONAN SYNDROME 4, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), NAIL-PATELLA SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, TRIFUNCTIONAL PROTEIN DEFICIENCY, HYPER-IGD SYNDROME, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, LIANG DISTAL MYOPATHY, MUCOPOLYSACCHARIDOSIS VII, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), LIPODYSTROPHY, FAMILIAL PARTIAL, 2, XANTHINURIA, TYPE I, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, MYOPATHY, MYOFIBRILLAR, 4, MENTAL RETARDATION, X-LINKED 63, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, HEMOCHROMATOSIS TYPE 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, TUBEROUS SCLEROSIS-1, HYPOTHYROIDISM, CONGENITAL NONGOITROUS, 5, FRAGILE X SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, C1R/C1S DEFICIENCY, COMBINED, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, RABSON-MENDENHALL SYNDROME, MALONYL-COA DECARBOXYLASE DEFICIENCY, IMAGE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PEROXISOME BIOGENESIS DISORDER 11B, ASPARTYLGLUCOSAMINURIA, HMG-COA SYNTHASE-2 DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIC, KANZAKI DISEASE, PEROXISOME BIOGENESIS DISORDER 7B, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, SED, MAROTEAUX TYPE, GLANZMANN THROMBASTHENIA, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE XVII, PITUITARY HORMONE DEFICIENCY, COMBINED, 5, GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES, SEPTOOPTIC DYSPLASIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, DYSAUTONOMIA, FAMILIAL, OSTEOLYSIS, FAMILIAL EXPANSILE, AGAMMAGLOBULINEMIA 3, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE, XERODERMA PIGMENTOSUM, GROUP B, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, ICHTHYOSIS HISTRIX, CURTH-MACKLIN TYPE, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, BARAITSER-WINTER SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, ATELOSTEOGENESIS, TYPE I, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMBINED FACTOR V AND VIII DEFICIENCY, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MUCOPOLYSACCHARIDOSIS IS, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, THYROID HORMONE RESISTANCE, AUTOSOMAL RECESSIVE, ABCD SYNDROME, HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, MUCOLIPIDOSIS II ALPHA/BETA, ALBINISM, OCULOCUTANEOUS, TYPE III, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, ALPHA-2-MACROGLOBULIN DEFICIENCY, PSEUDOPSEUDOHYPOPARATHYROIDISM, LEUKEMIA, CHRONIC MYELOID, SOMATIC, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, ACUTE MYELOID LEUKEMIA, M6 TYPE, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, ALZHEIMER DISEASE-2, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, KENNY-CAFFEY SYNDROME, TYPE 1, PRIMARY PULMONARY HYPERTENSION, HEMOPHILIA A, [BLOOD GROUP, DUFFY SYSTEM], PSEUDOHYPOALDOSTERONISM, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, SEBASTIAN SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, MUCOPOLYSACCHARIDOSIS IH, MYELOPEROXIDASE DEFICIENCY, MALOUF SYNDROME, MUCOLIPIDOSIS III ALPHA/BETA, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SEGAWA SYNDROME, RECESSIVE, MUCOLIPIDOSIS IV, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, GAUCHER DISEASE, TYPE I, FANCONI ANEMIA, COMPLEMENTATION GROUP C, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PERRAULT SYNDROME 1, MEDNIK SYNDROME, LACTASE DEFICIENCY, CONGENITAL, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, MUSCULAR DYSTROPHY, CONGENITAL, {MELANOMA, CUTANEOUS MALIGNANT, 2}, LACTASE PERSISTENCE/NONPERSISTENCE, NEPHROTIC SYNDROME, TYPE 1, COMMON VARIABLE IMMUNODEFICIENCY 1, DUCHENNE MUSCULAR DYSTROPHY, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, FRAGILE X TREMOR/ATAXIA SYNDROME, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, PEROXISOME BIOGENESIS DISORDER 8B, ?MUCOPOLYSACCHARIDOSIS TYPE IX, RENAL TUBULAR ACIDOSIS, DISTAL, AR, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, BECKER MUSCULAR DYSTROPHY, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, ALAGILLE SYNDROME, EPSTEIN SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE VII, AMYLOIDOSIS, FINNISH TYPE, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, KRABBE DISEASE, ATYPICAL, FIBROCHONDROGENESIS 1, KRABBE DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, ICHTHYOSIS, X-LINKED, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?N SYNDROME, SIALIC ACID STORAGE DISORDER, INFANTILE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, ALPHA-METHYLACYL-COA RACEMASE DEFICIENCY, GELEOPHYSIC DYSPLASIA 2, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), DIABETES INSIPIDUS, NEPHROGENIC, HYPOBETALIPOPROTEINEMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, FACTOR XIIIA DEFICIENCY, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, MUCOPOLYSACCHARIDOSIS IVA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, SEA-BLUE HISTIOCYTE DISEASE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, XERODERMA PIGMENTOSUM, GROUP D, GAUCHER DISEASE, TYPE II, CEROID LIPOFUSCINOSIS, NEURONAL, 10, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], REVESZ SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 5, SPHEROCYTOSIS, TYPE 4, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), CEROID LIPOFUSCINOSIS, NEURONAL, 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, WERNER SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FECHTNER SYNDROME, PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER), MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, SC PHOCOMELIA SYNDROME, {HASHIMOTO THYROIDITIS}, COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), IMMUNODEFICIENCY 44, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, FUCOSIDOSIS, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), IMMUNODEFICIENCY 43, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, HARTSFIELD SYNDROME, MEVALONIC ACIDURIA, HMG-COA LYASE DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, SPLENIC HYPOPLASIA, POLYCYTHEMIA VERA, SOMATIC, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, GREENBERG SKELETAL DYSPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER), PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, CEROID LIPOFUSCINOSIS, NEURONAL, 5, FANCONI RENOTUBULAR SYNDROME 2, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, CHYLOMICRON RETENTION DISEASE, HYPOPHOSPHATEMIC RICKETS, AR, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, COMBINED SAP DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 4B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, PAPILLORENAL SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, ROBERTS SYNDROME, BURKITT LYMPHOMA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, WISKOTT-ALDRICH SYNDROME, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, SMALL CELL CANCER OF THE LUNG, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, IMMUNODEFICIENCY, COMMON VARIABLE, 7, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, MARINESCO-SJOGREN SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, NIEMANN-PICK DISEASE, TYPE B, TANGIER DISEASE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, PREMATURE OVARIAN FAILURE 1, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, RENAL TUBULAR ACIDOSIS, DISTAL, AD, PLASMA FIBRONECTIN DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, ALPORT SYNDROME, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), [PREMATURE CHROMATID SEPARATION TRAIT], ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, BLOOM SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, PHYTANIC ACID STORAGE DISEASE, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, MAY-HEGGLIN ANOMALY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, PEROXISOME BIOGENESIS DISORDER 6B, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOMAL FATTY ACYL-COA REDUCTASE 1 DISORDER, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, ACROMICRIC DYSPLASIA, ?46XY SEX REVERSAL 5, HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, PSEUDOHYPOALDOSTERONISM, TYPE IIE, PSEUDOHYPOALDOSTERONISM, TYPE 2, HYPOMAGNESEMIA 3, RENAL, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, FARBER LIPOGRANULOMATOSIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HYPERPARATHYROIDISM 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3, MULTIPLE SULFATASE DEFICIENCY, MANNOSIDOSIS, BETA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, ADENYLOSUCCINASE DEFICIENCY, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE, GLUCOCORTICOID RESISTANCE, MUCOLIPIDOSIS III GAMMA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, FOCAL SEGMENTAL GLOMERULOSCLEROSIS 8, MYOPATHY, DISTAL, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IA, MYOPATHY, MYOFIBRILLAR, 2, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), HERMANSKY-PUDLAK SYNDROME 1, AGAMMAGLOBULINEMIA, X-LINKED 1, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, GLYCOGEN STORAGE DISEASE XII, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THYROID HORMONE RESISTANCE, PSEUDOHYPOPARATHYROIDISM IC, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, PIERSON SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, PEROXISOME BIOGENESIS DISORDER 3B, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, ENHANCED S-CONE SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PITUITARY DEPENDENT HYPERCORTISOLISM, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, COWCHOCK SYNDROME, BRUCK SYNDROME 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, MULTIPLE ENDOCRINE NEOPLASIA IIA, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, GM2-GANGLIOSIDOSIS, AB VARIANT, NEPHROTIC SYNDROME, TYPE 8, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, DIAMOND-BLACKFAN ANEMIA 9, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, GALACTOSIALIDOSIS, FACTOR X DEFICIENCY, XERODERMA PIGMENTOSUM, GROUP E, DDB-NEGATIVE SUBTYPE, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, CAFFEY DISEASE, NIEMANN-PICK DISEASE, TYPE A, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, GLYCOGEN STORAGE DISEASE II, NIEMANN-PICK DISEASE, TYPE C2, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), ?MYOSCLEROSIS, CONGENITAL, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, GAUCHER DISEASE, TYPE III, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, PERRAULT SYNDROME 5, CHILD SYNDROME, METACHROMATIC LEUKODYSTROPHY, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, WRINKLY SKIN SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, ?PRECOCIOUS PUBERTY, CENTRAL, 1, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, ALEXANDER DISEASE, PEELING SKIN SYNDROME 1, HYPOPHOSPHATASIA, CHILDHOOD, CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, PAGET DISEASE OF BONE 3, GM1-GANGLIOSIDOSIS, TYPE III, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, NEPHROTIC SYNDROME, TYPE 12, MODY, TYPE III, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, MYOTONIC DYSTROPHY 2, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, CRYOHYDROCYTOSIS, DIAMOND-BLACKFAN ANEMIA 7, LIPOID ADRENAL HYPERPLASIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ATAXIA-OCULOMOTOR APRAXIA 3, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, NEPHROTIC SYNDROME, TYPE 6, SMITH-KINGSMORE SYNDROME, PEROXISOME BIOGENESIS DISORDER 2B, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CA2, APOE, RPL5, MSH6, AMACR, CLN3, LMNA, GNA11, LBR, CUL3, CIITA, COL3A1, ATP6V1B1, FTL, GUSB, VMA21, NSDHL, MYH14, B2M, SLC17A5, LHX3, ITGA3, GNPTAB, WNK1, POR, NTRK1, DNAI2, CREBBP, MAFB, DYNC2H1, AQP2, FGFR3, KL, APOA1, PIK3R5, COL6A2, CD79A, GNAS, THRA, DAG1, BUB1B, IGF2R, MTOR, ASAH1, HMGA1, CTSA, CTSF, AIFM1, IRAK3, CCND1, JAK2, AP2S1, SPARC, NKX2-1, SGSH, HSPD1, ABCD4, TNNT2, GPD1, AVPR2, HTR2A, GATA1, CAV3, MEN1, ALDOA, AGL, CTNNB1, NRAS, SMAD4, NLGN3, EPHX2, C1R, SLC34A1, PSEN2, CTSD, AKT1, AXIN1, NPHS1, AGPS, GLI3, A2M, GALC, PTPRO, PEX13, ACTB, LAMP2, XDH, COL6A3, POLA1, LRP5, TNFRSF11A, GJA5, KNG1, LHCGR, LAMA2, COL5A2, PEX12, GATA4, HADHB, MT-CO2, SOD1, PTPN11, COL6A1, COL4A3, ESCO2, EHHADH, THBS4, HLA-DQB1, BDNF, CALR, CTNS, EGFR, TCAP, FBP1, KRT1, TSC1, HRAS, BMPR2, GM2A, PEX5, PEX14, MLYCD, CYBA, APOB, MYC, ACP2, PGK1, PSEN1, GFAP, NPC1, HLA-B, ITGA2B, IDUA, FGA, MYH7, COL4A5, IKBKAP, LMAN1, MPO, SOS1, GALNS, PRF1, CDC73, ARHGDIA, MITF, CAPN3, NR2E3, SLC9A3, IL2RG, CD81, TNXB, CSF2RB, RRM2B, MMP2, PLAU, SERPINA1, DRD3, NME1, HBA1, NOTCH1, ERCC3, PPT1, NAGA, CBS, CORO1A, GPI, SCARB2, GHR, STAR, PTH, TCIRG1, GDNF, MCPH1, HOXA11, STS, RB1, FGF23, PLOD2, STAT3, BRAF, SLC35A2, NCF1, TF, ALPL, GNPTG, FOLR1, BLNK, IGF1, F13A1, SMAD9, MYBPC3, PTH1R, GMPPB, PEX11B, NFKB2, COL4A4, BMP2, EDNRB, HMGCL, VDR, FGFR1, NAGLU, MUT, TP53, LIPA, LRP2, TNFRSF10B, MAPK8IP1, TJP2, AKAP10, ITGA6, KIT, BCR, AGPAT2, PEX1, AR, USP8, KRT8, PTS, MTRR, NR3C1, ITGB4, RRAS2, IGF1R, IDS, APPL1, TBCE, CACNA1C, SLC2A4, PEX3, BLM, DNMT1, FCGR2B, ACTN4, TAP2, IL6, PEX10, CRYAB, PCSK9, HCFC1, AGA, CTLA4, DHFR, PEX16, TIA1, EPOR, SLC25A20, FCGR2A, C10orf2, ATIC, DYRK1B, PHEX, TNNI3, LCT, ADSL, FAS, SQSTM1, HEXB, MUC1, TPP1, NTF3, AGT, CDH1, MCM6, NEB, MANBA, STK11, FMR1, CDKN1C, MBL2, PNPLA2, LAMB2, TH, PIK3CA, ABCD1, ACSL4, SIL1, JAG1, HNRNPA1, GFPT1, CNBP, COL2A1, HMGCS2, ACTA1, F5, CASP8, NOS3, SORT1, MYD88, CLDN19, SCNN1A, HEXA, COL1A2, ABCA1, PLOD3, GAA, MET, ANLN, CD44, C3, TNFRSF1A, TMEM173, SPRY2, TSHR, CLDN16, WAS, VCP, HAO1, INS, TYRP1, PFKM, ITGB3, DAO, SMPD1, PAX2, LMX1B, STAT1, PEX6, GLA, COL4A1, BRCA1, ITGB2, FN1, CYBB, ITPR2, FLNB, TSC2, PHYH, KLF1, BMPR1A, ACKR1, FBN1, AKT2, PC, MCOLN1, DCTN1, SLC9A3R1, RPS10, POLD1, HNF1A, PTPN1, DDB2, TRPV4, ABCD3, GSN, STAT2, RYR2, SSR4, IRS1, BAAT, CHEK2, IL4R, BCL10, JAK3, MAN2B1, MYH9, COL11A1, TGFB1, FADD, ATM, CBX2, GBA, ZHX2, STX11, LIMS2, F10, IRS2, OCLN, ZAP70, PEX7, TINF2, TUFM, DMP1, FUCA1, MPV17, CAV1, COL1A1, PRPH, ACOX1, F8, DNM2, MAPT, TAP1, GLB1, PPARG, COL5A1, PRKAR1A, SLC11A2, KISS1R, CDSN, BTK, PLG, CDKN2A, NEU1, ALG2, TRIM32, ERCC2, WNT4, GNAI2, EMD, HLA-DQA1, ATP6V0A2, FAR1, PTCH1, KRAS, SYN2, WRN, CDAN1, CPOX, LMNB1, ARSA, PGR, AGXT, COPA, KRT18, ABCC2, RPL11, IFNG, HLA-DRB1, RELN, NCF2, SLC4A1, AP1S1, THRB, MAX, GNS, PCBD1, CLN5, GLUD1, HRG, PAX8, PLIN1, RET, KCNJ11, VHL, GJA1, DYSF, AHSG, LDHA, VWF, MECP2, MVK, CASR, APC, DMD, MYO5B, FOXP3, PEX26, HYAL1, MRPL3, DTNBP1, LDLR, SEC63, SLC25A4, NUP93, MCM4, ARSB, OGDH, LDB3, ITPR3, NKX2-5, NPC2, DDOST, LYZ, HGSNAT, SUMF1, CYC1, HESX1, FLNA, STX16, PSAP, PEX2, HSD17B4, CASP10, RPL35A, SCN5A, NSD1, AHCY, PRKACA, INSR, TCF7L2, GNPAT, FANCC, ATP5A1, FLNC, PEX19, PTEN, POLR2F, FASLG, ITGA7, SAR1B, CFTR, MYH11, MTHFD1, SELP, CR2, GCGR, KDR, HFE, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, LEBER OPTIC ATROPHY AND DYSTONIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PARAGANGLIOMAS 3, GLUTAMINE DEFICIENCY, CONGENITAL, SPHEROCYTOSIS, TYPE 4, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, HYPERCHLORHIDROSIS, ISOLATED, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, SULFITE OXIDASE DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, GLUCOCORTICOID RESISTANCE, ETHYLMALONIC ENCEPHALOPATHY, CRYOHYDROCYTOSIS, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, WRINKLY SKIN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, RENAL TUBULAR ACIDOSIS, DISTAL, AR, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, PARAGANGLIOMAS 4, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, MYOGLOBINURIA, RECURRENT, GLYCOGEN STORAGE DISEASE VII, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RENAL TUBULAR ACIDOSIS, DISTAL, AD, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 16, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ONCOCYTOMA

CA2, NDUFS3, PFKM, SUOX, NDUFB3, TP53, NDUFS1, SCO2, NDUFA12, BCS1L, NR3C1, MT-ND4, NDUFA11, SDHA, MT-CO3, NDUFS6, GLUL, NDUFA1, PAPSS2, NDUFS7, ETHE1, UQCRC2, SDHB, MT-CO2, TCIRG1, NDUFS4, AKT1, CTNNB1, NDUFB9, SDHD, NDUFA10, CPS1, COX6B1, ATP6V0A2, ATP6V1B1, ATP5A1, SDHC, MT-ND1, AXIN1, COX15, MT-ATP6, NDUFS8, NDUFS2, SLC4A1, HSPD1, NDUFV2, NDUFA2, CA12, MT-CYB, UQCRQ, NDUFV1, NDUFA9, MYC, COX8A, MT-ND5, COX14, MT-ND6, GLUD1, DDOST, UQCRB, MT-ND2, CA5A, INS, MT-ND3, COX10, CYC1, MT-CO1

{DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, HYPER-IGE RECURRENT INFECTION SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, BARTTER SYNDROME, TYPE 2, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SPHEROCYTOSIS, TYPE 4, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, GLUCOCORTICOID RESISTANCE, NEPHROLITHIASIS, TYPE I, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, DENT DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SPHEROCYTOSIS, TYPE 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IC, ALPHA-2-MACROGLOBULIN DEFICIENCY, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, RUBINSTEIN-TAYBI SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, HARTSFIELD SYNDROME, ATAXIA-TELANGIECTASIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, PEPCK DEFICIENCY, MITOCHONDRIAL, LEPRECHAUNISM, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, {HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, WRINKLY SKIN SYNDROME, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, NEPHROTIC SYNDROME, TYPE 8, PSEUDOHYPOALDOSTERONISM, TYPE I, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, RABSON-MENDENHALL SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, HYPOMAGNESEMIA 2, RENAL, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, CRYOHYDROCYTOSIS, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, SMALL CELL CANCER OF THE LUNG, SOMATIC, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, WISKOTT-ALDRICH 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, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, BARTTER SYNDROME, TYPE 4B, DIGENIC, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS, DISTAL, AD, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, APPARENT MINERALOCORTICOID EXCESS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PSEUDOHYPOPARATHYROIDISM IA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, HMG-COA SYNTHASE-2 DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LIDDLE SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIC, ANDROGEN INSENSITIVITY, DIABETES INSIPIDUS, NEPHROGENIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BARTTER SYNDROME, TYPE 3, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, ABCD SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, HYPOPHOSPHATEMIC RICKETS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ATAXIA-OCULOMOTOR APRAXIA 3, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, SMITH-KINGSMORE SYNDROME

CA2, IRS1, AR, CAV1, KRAS, CALR, HNF1B, PRKACA, AVP, IGF1, SLC9A3R1, CLCN5, SCNN1B, TGFB1, PIK3CA, INS, SLC9A3, AP2S1, RRAS2, IL6, AGT, MTOR, FGFR1, STAT3, SCNN1A, PIK3R5, TCIRG1, INSR, FOXP3, BSND, HSD11B2, PCK2, KL, SOS1, VDR, ATM, CREBBP, SEC23B, KCNJ1, PTH, WAS, TP53, ATP6V0A2, WNK1, ATP6V1B1, ATP5A1, HCFC1, GNAS, CLCNKB, DCTN1, SCNN1G, DNM2, AVPR2, GLUD1, SLC4A1, PTH1R, A2M, AKT1, EDNRB, GDNF, ANK1, PTPN1, MYC, ARHGDIA, RB1, HSD17B10, NR3C1, BDNF, FXYD2, CFTR, HMGCS2, GNAI2, HRAS, DYNC2H1, PCK1, NR3C2, AQP2, PIK3R1

CANAVAN DISEASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, GABA-TRANSAMINASE DEFICIENCY, GLUTAMINE DEFICIENCY, CONGENITAL, PEROXISOME BIOGENESIS DISORDER 2B, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ASPARAGINE SYNTHETASE DEFICIENCY, ADENYLOSUCCINASE DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ?MENTAL RETARDATION, AUTOSOMAL RECESSIVE 49, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ?N-ACETYLASPARTATE DEFICIENCY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, PYRUVATE CARBOXYLASE DEFICIENCY, CITRULLINEMIA, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, ARGININOSUCCINIC ACIDURIA, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, HYPERPROLINEMIA, TYPE II, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ARGININEMIA, TYROSINEMIA, TYPE II

ALDH4A1, ASNS, DAO, TAT, GPT2, ASL, GLUL, CAD, ARG1, GLUD1, AGXT, GFPT1, TP53, CPS1, ASS1, HSPD1, ASPA, ALDH5A1, PEX5, ADSL, NAT8L, PC, ABAT

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, {HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, COMBINED HYPERLIPIDEMIA, FAMILIAL, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, LIPOPROTEIN LIPASE DEFICIENCY, NORUM DISEASE, PEPCK DEFICIENCY, MITOCHONDRIAL, HMG-COA SYNTHASE-2 DEFICIENCY, MYOPATHY DUE TO CPT II DEFICIENCY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, PYRUVATE KINASE DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE IA, PHYTANIC ACID STORAGE DISEASE, FISH-EYE DISEASE, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, ALZHEIMER DISEASE-2, PLASMA TRIGLYCERIDE LEVEL QTL, LOW, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GLUCOCORTICOID RESISTANCE, CPT DEFICIENCY, HEPATIC, TYPE II, ?FANCONI RENOTUBULAR SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GLYCEROL KINASE DEFICIENCY, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, HYPOBETALIPOPROTEINEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MENTAL RETARDATION, X-LINKED 63, ALPHA-METHYLACETOACETIC ACIDURIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, HYPERCHYLOMICRONEMIA, LATE-ONSET, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CPT II DEFICIENCY, LETHAL NEONATAL, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, PEROXISOME BIOGENESIS DISORDER 2B, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, CEREBROTENDINOUS XANTHOMATOSIS, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}

PLIN1, ANGPTL4, APOE, APOA2, PPARG, CTNNB1, APOA1, SSR4, MYC, CPT2, ACOX1, HNF4A, CYP27A1, PKLR, LPL, PCK1, ACAT1, MT-CO2, PCK2, APOB, GK, CFTR, EHHADH, ACSL4, LCAT, AKT1, EGFR, OGDH, PEX5, ACADM, IGF1, NR3C1, CPT1A, PEX7, APOA5, INS, HMGCS2

AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, GLYCOGEN STORAGE DISEASE IV, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?ACAT2 DEFICIENCY, IMMUNODEFICIENCY 23, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, GLUTAMINE DEFICIENCY, CONGENITAL, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE VI, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, BARTH SYNDROME, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, GLUCOCORTICOID RESISTANCE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, GLANZMANN THROMBASTHENIA, FECHTNER SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, LEIOMYOMATOSIS AND RENAL CELL CANCER, HYPOPHOSPHATASIA, INFANTILE, GM1-GANGLIOSIDOSIS, TYPE II, MAY-HEGGLIN ANOMALY, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE XII, LOWE SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOPSEUDOHYPOPARATHYROIDISM, CALCIUM OXALATE UROLITHIASIS, METHYLMALONYL-COA EPIMERASE DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IA, [PENTOSURIA], MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, ERYTHROCYTOSIS DUE TO BISPHOSPHOGLYCERATE MUTASE DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, OROTIC ACIDURIA, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, HMG-COA LYASE DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, GLYCOGEN STORAGE DISEASE 0, LIVER, PEPCK DEFICIENCY, MITOCHONDRIAL, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, [GLYOXALASE II DEFICIENCY], CRIGLER-NAJJAR SYNDROME, TYPE I, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, PERIODIC FEVER, FAMILIAL, ARTS SYNDROME, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, PYRUVATE CARBOXYLASE DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, PYRUVATE KINASE DEFICIENCY, PITUITARY DEPENDENT HYPERCORTISOLISM, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, GALACTOKINASE DEFICIENCY WITH CATARACTS, NEPHROTIC SYNDROME, TYPE 8, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ACETYL-COA CARBOXYLASE DEFICIENCY, SEBASTIAN SYNDROME, BURKITT LYMPHOMA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, ALPHA-METHYLACETOACETIC ACIDURIA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, EPILEPSY, PYRIDOXINE-DEPENDENT, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PARAGANGLIOMAS 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, HYPEROXALURIA, PRIMARY, TYPE II, LACTASE DEFICIENCY, CONGENITAL, FUMARASE DEFICIENCY, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MALONYL-COA DECARBOXYLASE DEFICIENCY, CRIGLER-NAJJAR SYNDROME, TYPE II, GLYCINE ENCEPHALOPATHY, GLYCOGEN STORAGE DISEASE II, TRIFUNCTIONAL PROTEIN DEFICIENCY, FRUCTOSE INTOLERANCE, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, GLYCOGEN STORAGE DISEASE IA, METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, NEPHROTIC SYNDROME, TYPE 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, MODY, TYPE II, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, ?FANCONI RENOTUBULAR SYNDROME 3, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, LIANG DISTAL MYOPATHY, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, L-2-HYDROXYGLUTARIC ACIDURIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MARINESCO-SJOGREN SYNDROME, PROPIONICACIDEMIA, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, GLYCOGEN STORAGE DISEASE X, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, HMG-COA SYNTHASE-2 DEFICIENCY, EPSTEIN SYNDROME, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, [GILBERT SYNDROME], GLYCOGEN STORAGE DISEASE VII, [FRUCTOSURIA], ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, GALACTOSEMIA, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, [CHITOTRIOSIDASE DEFICIENCY], JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, GALACTOSE EPIMERASE DEFICIENCY, GLYCOGEN STORAGE DISEASE XI, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, VON WILLEBRAND DISEASE, TYPE 1, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, D-GLYCERIC ACIDURIA, POLYGLUCOSAN BODY DISEASE, ADULT FORM, GABA-TRANSAMINASE DEFICIENCY, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MCARDLE DISEASE, MUCOPOLYSACCHARIDOSIS VII, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, LEUKOCYTE ADHESION DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 3, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPOPHOSPHATASIA, CHILDHOOD, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), VON WILLIBRAND DISEASE, TYPE 3, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE III, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOBETALIPOPROTEINEMIA, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, SIALURIA, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, AGAMMAGLOBULINEMIA 3, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, DENT DISEASE 2, NEPHROTIC SYNDROME, TYPE 3, PARAGANGLIOMAS 4, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, 2-METHYLBUTYRYLGLYCINURIA, SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY, ?GLYCOGEN STORAGE DISEASE XIII, [BILIRUBIN, SERUM LEVEL OF, QTL1], MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PEROXISOME BIOGENESIS DISORDER 2B, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SJOGREN-LARSSON SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, SMITH-KINGSMORE SYNDROME, NONAKA MYOPATHY

UGT1A1, CAV1, TNNI3, APOB, NCF1, MYC, SDHD, ACADS, SDHC, PGAM2, PGK1, PIK3CA, HEXB, ATP6V1B1, ITGB3, GUSB, HAGH, AGT, PMM2, PPARG, INSR, HIBCH, PCK2, LCT, BTK, MYH7, GALE, GALK1, HADH, FH, FBP1, MLYCD, G6PC, AGXT, UGT1A4, ARHGDIA, ACADSB, DLD, HADHA, CYB5R3, SMAD4, GNE, UMPS, OCRL, GNAI2, RPIA, CTSD, PTEN, HMGCS2, PCCB, LDHA, ACADM, KL, ALDOB, MPI, PGM1, CD79A, GNAS, PKLR, ALDH7A1, GLUL, CAD, MTOR, GPI, ALDH6A1, HEXA, GALT, ALDH2, GFPT1, SUCLG1, SUCLA2, GMPPA, PFKM, FGFR3, MCEE, TNFRSF1A, L2HGDH, SI, ALDH5A1, CHIT1, ENPP1, BPGM, INS, GCK, CAV3, GLB1, AGL, ACAT1, CTNNB1, PRPS1, IGF1, HNF4A, ENO3, VWF, GMPPB, TAZ, PCK1, PYGM, ALDH3A2, HMGCL, ITGB2, AKT1, GBE1, TPI1, ACACA, MRPL3, VCP, MUT, TANGO2, NPHS1, PGM3, ACAT2, DBT, OGDH, HK1, PEX5, ECHS1, TNNT2, GLYCTK, GAA, PDSS2, GRHPR, SDHA, PDHA1, PYGL, PTPN11, ATM, GATA4, MYH9, HADHB, PLCE1, NOTCH1, PCCA, ETFA, GYS2, ALDOA, ACTN4, HAO1, DCXR, EHHADH, GLA, B4GALT1, ALPL, ATP5A1, DLAT, DHFR, HRAS, KHK, IRS2, GCSH, CYC1, NR3C1, SDHB, SIL1, PC, ABAT

ALZHEIMER DISEASE-2, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MANNOSIDOSIS, ALPHA-, TYPES I AND II, MULTIPLE SULFATASE DEFICIENCY, GAUCHER DISEASE, PERINATAL LETHAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, MANNOSIDOSIS, BETA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, COMBINED FACTOR V AND VIII DEFICIENCY, MUCOLIPIDOSIS III GAMMA, CEROID LIPOFUSCINOSIS NEURONAL 6, MUCOPOLYSACCHARIDOSIS IS, DANON DISEASE, FARBER LIPOGRANULOMATOSIS, PORENCEPHALY 1, CEROID LIPOFUSCINOSIS, NEURONAL, 2, MUCOLIPIDOSIS II ALPHA/BETA, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), SALLA DISEASE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, FUCOSIDOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, GAUCHER DISEASE, TYPE IIIC, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, NIEMANN-PICK DISEASE TYPE C1, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, ?LYSOSOMAL ACID PHOSPHATASE DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, GLYCOGEN STORAGE DISEASE II, ATRANSFERRINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, BRUCK SYNDROME 2, CEROID LIPOFUSCINOSIS, NEURONAL, 5, WRINKLY SKIN SYNDROME, MUCOPOLYSACCHARIDOSIS II, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, BURKITT LYMPHOMA, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, TUBEROUS SCLEROSIS 2, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, COMBINED SAP DEFICIENCY, GALACTOSIALIDOSIS, MUCOLIPIDOSIS III ALPHA/BETA, MUCOLIPIDOSIS IV, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, GAUCHER DISEASE, TYPE I, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MEDNIK SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), NIEMANN-PICK DISEASE, TYPE A, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, NIEMANN-PICK DISEASE, TYPE C2, GM2-GANGLIOSIDOSIS, AB VARIANT, CEROID LIPOFUSCINOSIS, NEURONAL, 1, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, MUCOPOLYSACCHARIDOSIS IH/S, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, METACHROMATIC LEUKODYSTROPHY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, GLYCOGEN STORAGE DISEASE VII, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, KRABBE DISEASE, ATYPICAL, KRABBE DISEASE, SCHINDLER DISEASE, TYPE I, SCHINDLER DISEASE, TYPE III, ASPARTYLGLUCOSAMINURIA, SIALIC ACID STORAGE DISORDER, INFANTILE, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, KANZAKI DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 3, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), GM1-GANGLIOSIDOSIS, TYPE III, CEROID LIPOFUSCINOSIS, NEURONAL, 10, CEROID LIPOFUSCINOSIS, NEURONAL, 13, KUFS TYPE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, SEA-BLUE HISTIOCYTE DISEASE, GAUCHER DISEASE, TYPE II, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, [LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL6], MUCOPOLYSACCHARIDOSIS IVA, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

PFKM, CLN3, APOE, FUCA1, NME1, TPP1, HEXA, GNPTG, GPI, SMPD1, MCOLN1, IGF2R, HYAL1, IGF1, ACP2, SLC17A5, AKT1, IDS, CTNS, HEXB, PPARG, ATM, GLB1, MAN2B1, GUSB, CIITA, CTSD, PSAP, ASAH1, SCARB2, COL4A1, NEU1, TCIRG1, VMA21, NTRK1, CTSA, SLC11A2, CTSF, BMP2, GM2A, MMP2, IDUA, CALR, MANBA, LMAN1, MRPL3, GAA, PPT1, GBA, IFNG, GLA, LIPA, ATP5A1, AP1S1, PLOD2, NAGLU, MYC, GNPTAB, KDR, AGA, GALNS, GALC, NPC1, SORT1, SGSH, EGFR, SPRY2, NAGA, GNS, TF, MITF, LAMP2, CLN5, SELP, NPC2, TUFM, ARSB, HGSNAT, INS, ATP6V0A2, SUMF1, ARSA

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BARAITSER-WINTER SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, CAFFEY DISEASE, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 8, PEROXISOME BIOGENESIS DISORDER 2B, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, C3 DEFICIENCY, GALACTOSIALIDOSIS, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LEUKOCYTE ADHESION DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SELECTIVE T-CELL DEFECT, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, C1R/C1S DEFICIENCY, COMBINED, DIAMOND-BLACKFAN ANEMIA 6, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GLANZMANN THROMBASTHENIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, {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}, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, WRINKLY SKIN SYNDROME, HYPOBETALIPOPROTEINEMIA, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DANON DISEASE, LYMPHOPROLIFERATIVE SYNDROME 1, CEROID LIPOFUSCINOSIS, NEURONAL, 10, PITUITARY ADENOMA, ACTH-SECRETING, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, CALCIUM OXALATE UROLITHIASIS, ALAGILLE SYNDROME, ATRANSFERRINEMIA, XERODERMA PIGMENTOSUM, GROUP B, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, MYELOPEROXIDASE DEFICIENCY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, GLYCOGEN STORAGE DISEASE VII, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, HYPERTHYROIDISM, NONAUTOIMMUNE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, IMMUNODEFICIENCY 43, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], {CHRONIC INFECTIONS, DUE TO MBL DEFICIENCY}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

PFKM, NCF1, ATP6V1B1, TCIRG1, ITGB3, AGL, LAMP2, APOB, TP53, FCGR2B, MYC, ACTB, HBA1, AKT1, TGFB1, CTSA, MPO, TAP1, ERCC3, ITK, CBS, MYD88, CORO1A, STAT1, TNNI3, CD44, BMP2, HLA-B, PTPN11, ITGB2, CDH1, CYBA, CYBB, BTK, C1R, B2M, GNAI2, CFTR, IFNG, ATP6V0A2, RPL5, MBL2, THBS4, NCF2, HLA-DQB1, STX11, DCTN1, CHEK2, CALR, HLA-DQA1, IL6, KDR, C3, HSPD1, HLA-DRB1, HRAS, TMEM173, EGFR, SPRY2, JAG1, TSHR, TF, PEX5, ZAP70, SELP, FCGR2A, TAP2, INS, COL1A1, DYNC2H1, CTSD, PLAU

{ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, [EOSINOPHIL PEROXIDASE DEFICIENCY], {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}

IRS2, IGF1R, IFNG, HLA-DRB1, EPX, HLA-DQB1, MS4A2, HLA-DQA1, PTPN11

BARAITSER-WINTER SYNDROME 1, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, SESAME SYNDROME, ALAND ISLAND EYE DISEASE, RIPPLING MUSCLE DISEASE, MUSCULAR DYSTROPHY, CONGENITAL, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, LEUKOCYTE ADHESION DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYOPATHY, MYOFIBRILLAR, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, DUCHENNE MUSCULAR DYSTROPHY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, GLANZMANN THROMBASTHENIA, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, LIANG DISTAL MYOPATHY, KNIEST DYSPLASIA, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, FACTOR XIIIA DEFICIENCY, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MALOUF SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, MANDIBULOACRAL DYSPLASIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, MYOPATHY, DISTAL, TATEYAMA TYPE, PLASMA FIBRONECTIN DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 5, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, CARDIOMYOPATHY, DILATED, 1A, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

CAV3, FLNC, ITGB3, MYH11, TP53, LMNA, SGCD, IGF1, ACTB, SGCA, TGFB1, LAMA2, MYBPC3, ATP2A1, FLNA, DAG1, ITGB4, CACNA1D, TNNI3, KCNJ10, CACNA1C, NOS3, ITGB2, ITGA2B, FN1, CACNA1F, RYR2, MYH7, STK11, ITGA6, IL6, SGCG, ITGA3, CRYAB, CACNA1S, SGCB, CD44, TTN, COL1A2, AKT1, ITGA7, EMD, IRS1, F13A1, CAPN3, TNNT2, COL2A1, DMD

ATRIOVENTRICULAR SEPTAL DEFECT 3, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, BARAITSER-WINTER SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, TIMOTHY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, CREATINE PHOSPHOKINASE, ELEVATED SERUM, SESAME SYNDROME, ALAND ISLAND EYE DISEASE, RIPPLING MUSCLE DISEASE, MUSCULAR DYSTROPHY, CONGENITAL, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, DUCHENNE MUSCULAR DYSTROPHY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, GLANZMANN THROMBASTHENIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, HYPOKALEMIC PERIODIC PARALYSIS 1, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, ALZHEIMER DISEASE, TYPE 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MANDIBULOACRAL DYSPLASIA, MALOUF SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, MYOPATHY, DISTAL, TATEYAMA TYPE, PLASMA FIBRONECTIN DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, CARDIOMYOPATHY, DILATED, 1A, BRODY MYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

CAV3, ITGB3, CTNNB1, LMNA, SGCD, ACTB, SGCA, ITGB4, LAMA2, PSEN1, ATP2A1, FLNA, DAG1, CACNA1D, KCNJ10, CACNA1C, TCF7L2, ITGA2B, FN1, CACNA1F, RYR2, GJA1, ACTN4, SGCG, ITGA3, TJP2, SGCB, CACNA1S, AKT1, ITGA7, PTPN1, EMD, PCBD1, ITGA6, DMD

BARAITSER-WINTER SYNDROME 1, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, SESAME SYNDROME, ALAND ISLAND EYE DISEASE, RIPPLING MUSCLE DISEASE, MUSCULAR DYSTROPHY, CONGENITAL, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, CARDIAC VALVULAR DYSPLASIA, X-LINKED, LEUKOCYTE ADHESION DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, DIABETES INSIPIDUS, NEPHROGENIC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, DUCHENNE MUSCULAR DYSTROPHY, PSEUDOHYPOPARATHYROIDISM IC, GLANZMANN THROMBASTHENIA, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, LIANG DISTAL MYOPATHY, KNIEST DYSPLASIA, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, PITUITARY ADENOMA, ACTH-SECRETING, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PLASMA FIBRONECTIN DEFICIENCY, HYPOKALEMIC PERIODIC PARALYSIS 1, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, BURKITT LYMPHOMA, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, FACTOR XIIIA DEFICIENCY, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, MALOUF SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, MANDIBULOACRAL DYSPLASIA, PSEUDOPSEUDOHYPOPARATHYROIDISM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, MYOPATHY, DISTAL, TATEYAMA TYPE, BRODY MYOPATHY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOPARATHYROIDISM IA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

CAV3, ITGB3, MYH11, LMNA, SGCD, IGF1, PRKACA, ACTB, SGCA, TGFB1, LAMA2, MYBPC3, ATP2A1, ITGA2B, FLNA, DAG1, ITGB4, CACNA1D, TNNI3, KCNJ10, CACNA1C, PTPN11, ITGB2, AKT1, CACNA1F, RYR2, SOS1, MYH7, COL2A1, SGCG, ITGA3, SGCB, CACNA1S, GNAS, MYC, CD44, TTN, COL1A2, FN1, ITGA7, EMD, AQP2, F13A1, CAPN3, TNNT2, NEB, ITGA6, GNAI2, DMD

BARAITSER-WINTER SYNDROME 1, LEUKODYSTROPHY, HYPOMYELINATING, 4, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, SHORT SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, LIANG DISTAL MYOPATHY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYOPATHY, DISTAL, 4, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, ?PROGESTERONE RESISTANCE, SCAPULOPERONEAL SYNDROME, MYOPATHIC TYPE, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E, MYOPATHY, MYOFIBRILLAR, 5, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, {CELIAC DISEASE, SUSCEPTIBILITY TO}

FASLG, CALR, CAV1, B2M, MYC, PRF1, ACTB, FLNC, SGCA, LAMA2, RPL5, DAG1, DMD, TNNI3, HLA-B, PGR, ITGB2, SGCG, MYH7, CCND1, IFNG, HLA-DRB1, SGCB, SGCD, CD44, PIK3CA, HSPD1, HLA-DQB1, SPRY2, PTEN, CASP8, HLA-DQA1, PIK3R1

GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, ICHTHYOSIS, X-LINKED, CRIGLER-NAJJAR SYNDROME, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE II, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, [BILIRUBIN, SERUM LEVEL OF, QTL1], CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, GLUCOCORTICOID RESISTANCE, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LATHOSTEROLOSIS, ALPHA-METHYLACETOACETIC ACIDURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, [GILBERT SYNDROME], 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, APPARENT MINERALOCORTICOID EXCESS, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA

UGT1A1, ACAT1, CYP7B1, SRD5A3, ACTN4, TGFB1, GATA4, CYP11B2, IL6, SLCO1B1, PPARG, HNF4A, HSD11B2, AKT1, VDR, MRPL3, SRD5A2, CYP11B1, NR0B1, SC5D, HSD17B3, INS, UGT1A4, TERT, POR, STS, CYP21A2, NR3C1, CYP17A1, AKR1D1, COMT

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ATRIOVENTRICULAR SEPTAL DEFECT 3, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, POLYCYTHEMIA VERA, SOMATIC, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, C3 DEFICIENCY, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LEUKOCYTE ADHESION DEFICIENCY, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, IMMUNODEFICIENCY, COMMON VARIABLE, 6, GLYCOGEN STORAGE DISEASE XI, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, BURKITT LYMPHOMA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, FACTOR XIIIA DEFICIENCY, TUBEROUS SCLEROSIS 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALPHA-2-MACROGLOBULIN DEFICIENCY, PITUITARY ADENOMA, ACTH-SECRETING, PLASMA FIBRONECTIN DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, {CELIAC DISEASE, SUSCEPTIBILITY TO}

NCF1, KNG1, CYBA, CYBB, FCGR2B, MYC, LDHA, CIITA, STAT1, TGFB1, GJA1, FCGR2A, ITGB2, AKT1, JAK2, IL4R, KDR, IL6, WAS, IFNG, HLA-DRB1, NCF2, HLA-DQA1, C3, A2M, FN1, HLA-DQB1, PTPN1, F13A1, STAT3, GNAI2, CD81, MYD88

C8 DEFICIENCY, TYPE I, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ATRIOVENTRICULAR SEPTAL DEFECT 3, POLYCYTHEMIA VERA, SOMATIC, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, CAFFEY DISEASE, PORENCEPHALY 1, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ATAXIA-TELANGIECTASIA, SHORT SYNDROME, PLASMA FIBRONECTIN DEFICIENCY, LEUKOCYTE ADHESION DEFICIENCY, ERYTHROCYTOSIS, FAMILIAL, 2, IMMUNODEFICIENCY 43, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DONNAI-BARROW SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, PSEUDOHYPOPARATHYROIDISM IC, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLANZMANN THROMBASTHENIA, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, PAGET DISEASE OF BONE 3, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, KNIEST DYSPLASIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], SMALL CELL CANCER OF THE LUNG, SOMATIC, COMPLEMENT FACTOR D DEFICIENCY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, HYPOCALCIURIC HYPERCALCEMIA, TYPE II, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, FACTOR XIIIA DEFICIENCY, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, TUBEROUS SCLEROSIS 2, ATAXIA-OCULOMOTOR APRAXIA 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PSEUDOHYPOPARATHYROIDISM IA, PIERSON SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, PITUITARY ADENOMA, ACTH-SECRETING, OSTEOGENESIS IMPERFECTA, TYPE XVII, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, ARGININEMIA, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, EHLERS-DANLOS SYNDROME, TYPE IV, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, FIBROCHONDROGENESIS 1, ALPORT SYNDROME, SMITH-KINGSMORE SYNDROME

ACTA1, IRS1, ITGB3, C8A, MMP2, MYC, IGF1, COL4A4, COL5A2, VHL, LAMA2, AKT1, TGFB1, SQSTM1, NOS3, ATM, HLA-DRB1, IL6, DAG1, COL11A1, ITGB4, ARG1, GNA11, CFD, PRKACA, COL1A1, BMP2, COL3A1, PLG, MTOR, ITGB2, CDH1, GJA1, SOS1, PLAU, B2M, ACTN4, GNAI2, COL4A3, JAK2, LRP2, CRYAB, GNAS, COL4A1, LAMB2, SPARC, PIK3CA, COL5A1, FN1, HRAS, COL1A2, EGFR, IFNG, KNG1, RB1, CFTR, F13A1, CD59, PIK3R5, SELP, STAT3, CASP8, ITGA6, COL4A5, COL2A1, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ATRIOVENTRICULAR SEPTAL DEFECT 3, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, POLYCYTHEMIA VERA, SOMATIC, NIEMANN-PICK DISEASE, TYPE A, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ALZHEIMER DISEASE-2, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, LEUKOCYTE ADHESION DEFICIENCY, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLANZMANN THROMBASTHENIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, CEROID LIPOFUSCINOSIS NEURONAL 6, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, KNIEST DYSPLASIA, [BLOOD GROUP, DUFFY SYSTEM], {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOPARATHYROIDISM FAMILIAL ISOLATED, NIEMANN-PICK DISEASE, TYPE B, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SEA-BLUE HISTIOCYTE DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, ALPHA-2-MACROGLOBULIN DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, IMMUNODEFICIENCY 43, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

APOE, ITGB3, HBB, SMPD1, MYC, KNG1, HBA1, MYD88, MMP2, PTPN11, THBS4, AGT, TGFB1, GJA1, CD46, MET, BMP2, COL1A2, PLG, ITGB2, CDH1, IFNG, TAPBP, B2M, ACTN4, IL6, PTH, JAK2, ACKR1, CASP8, A2M, AKT1, FASLG, PTEN, STAT3, COL2A1, CD81, SELP

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ATRIOVENTRICULAR SEPTAL DEFECT 3, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, LEUKODYSTROPHY, HYPOMYELINATING, 4, POLYCYTHEMIA VERA, SOMATIC, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PERIODIC FEVER, FAMILIAL, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, SELECTIVE T-CELL DEFECT, RUBINSTEIN-TAYBI SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, HEMOPHILIA A, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {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}, OSTEOLYSIS, FAMILIAL EXPANSILE, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, TUBEROUS SCLEROSIS 2, FACTOR XIIIA DEFICIENCY, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, IMMUNODEFICIENCY 44, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, ATAXIA-OCULOMOTOR APRAXIA 3, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PIERSON SYNDROME, PITUITARY ADENOMA, ACTH-SECRETING, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PLASMA FIBRONECTIN DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LISSENCEPHALY 2 (NORMAN-ROBERTS TYPE), JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME

FASLG, ZAP70, CTNNB1, TP53, HLA-DQA1, CASP8, IGF1, CREBBP, KNG1, LAMA2, MYD88, PTPN11, PPARG, STAT1, IL6, CIITA, TGFB1, TNNI3, F8, AKT2, AKT1, IFNG, GJA1, ITGA6, CCND1, JAK2, TNFRSF11A, HLA-DRB1, CRYAB, RELN, DCTN1, PIK3CA, HSPD1, FN1, TNFRSF1A, HLA-DQB1, KRAS, F13A1, PIK3R5, STAT3, STAT2, GNAI2, PLG, LDLR, LAMB2, MTOR, PIK3R1

GALACTOSE EPIMERASE DEFICIENCY, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, ?ACAT2 DEFICIENCY, GLYCINE ENCEPHALOPATHY, TRIFUNCTIONAL PROTEIN DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, ?FANCONI RENOTUBULAR SYNDROME 3, GLUTARICACIDURIA, TYPE I, BRUNNER SYNDROME, DIAMOND-BLACKFAN ANEMIA 9, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, NEPHROTIC SYNDROME, TYPE 8, {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}, ?HYDROXYKYNURENINURIA, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ALPHA-METHYLACETOACETIC ACIDURIA, MYOGLOBINURIA, RECURRENT, EPILEPSY, PYRIDOXINE-DEPENDENT, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, TYROSINEMIA, TYPE II, SJOGREN-LARSSON SYNDROME, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

TAT, DDC, MYC, KYNU, ALDH7A1, IL6, HADHB, ACAT1, GLDC, ALDH3A2, HADHA, EHHADH, GALE, HADH, TP53, ACAT2, POLD1, GCDH, MT-CYB, RPS10, OGDH, ARHGDIA, ABCA1, ECHS1, INS, MAOA, ALDH2

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, PARAGANGLIOMAS 3, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, LEIOMYOMATOSIS AND RENAL CELL CANCER, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PYRUVATE CARBOXYLASE DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, 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, FUMARASE DEFICIENCY, PARAGANGLIOMAS 4, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY

SUCLG1, SDHD, OGDH, DLD, PDHA1, PCK1, TNNI3, SUCLA2, SDHC, PC, SDHB, FH, DLAT, SDHA, DBT, PCK2

C8 DEFICIENCY, TYPE I, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OSTEOLYSIS, FAMILIAL EXPANSILE, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY, COMMON VARIABLE, 6, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, ATELEIOTIC DWARFISM, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, {HASHIMOTO THYROIDITIS}, [EOSINOPHIL PEROXIDASE DEFICIENCY], MEDULLARY CYSTIC KIDNEY DISEASE 1, ?PROGESTERONE RESISTANCE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AGAMMAGLOBULINEMIA, X-LINKED 1, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ALZHEIMER DISEASE, TYPE 4, IMMUNODEFICIENCY 43, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, ATRIOVENTRICULAR SEPTAL DEFECT 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, BECKWITH-WIEDEMANN SYNDROME, THYROID DYSHORMONOGENESIS 2A, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, PERIODIC FEVER, FAMILIAL, C3 DEFICIENCY, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, PITUITARY DEPENDENT HYPERCORTISOLISM, DIAMOND-BLACKFAN ANEMIA 6, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, IMMUNODEFICIENCY 44, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, WRINKLY SKIN SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PITUITARY HORMONE DEFICIENCY, COMBINED, 1, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, MYELOPEROXIDASE DEFICIENCY, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, ?INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITHOUT FRONTOTEMPORAL DEMENTIA 3, ALPHA-2-MACROGLOBULIN DEFICIENCY, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, {MELANOMA, CUTANEOUS MALIGNANT, 2}, CEREBRAL AMYLOID ANGIOPATHY, COMMON VARIABLE IMMUNODEFICIENCY 1, IMAGE SYNDROME, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, BANNAYAN-RILEY-RUVALCABA SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, FACTOR XIIIA DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, THYROTROPIN-RELEASING HORMONE DEFICIENCY, LYMPHOPROLIFERATIVE SYNDROME 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BERGER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, THYROID DYSHORMONOGENESIS 3, HEMOCHROMATOSIS TYPE 1, MYOPATHY, TUBULAR AGGREGATE, 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE VII, HYPERTHYROIDISM, NONAUTOIMMUNE, IMMUNODEFICIENCY, COMMON VARIABLE, 2, PLASMA FIBRONECTIN DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, GLYCOGEN STORAGE DISEASE XI, ANGIOEDEMA, HEREDITARY, TYPES I AND II, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, AGAMMAGLOBULINEMIA 4, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ANDROGEN INSENSITIVITY, LEUKOCYTE ADHESION DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, MASP2 DEFICIENCY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY, COMMON VARIABLE, 4, C1R/C1S DEFICIENCY, COMBINED, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, AGAMMAGLOBULINEMIA 3, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, OMENN SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, C4A DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, PEROXISOME BIOGENESIS DISORDER 2B, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}

RPL5, MITF, TNNI3, MYC, CST3, RAG1, FAS, PGK1, MYD88, MS4A2, ATP6V1B1, PPARG, CD19, CDH1, BTK, IL4R, CDKN2A, IGHM, IL21R, MASP2, PIK3CA, MPO, NOTCH1, PRF1, HNRNPA1, SERPING1, TNFRSF11B, SMAD4, CREBBP, POU1F1, GNAI2, IL2RG, ATP6V0A2, PTEN, ACTA1, F13A1, MMP2, TNFRSF13C, HLA-DQA1, EGFR, AR, CD79A, NOS3, DCLRE1C, CIITA, HLA-DRB1, GPI, EPX, PSEN1, PGR, RFXAP, JAK2, BMPR1A, ICOS, ORAI1, MAFB, CCND1, IFNG, C4A, TAP1, NKX2-1, TCIRG1, C3, HSPD1, CD81, TNFRSF1A, SPRY2, TSHR, ITK, STAT3, VCP, INS, TPO, TNFRSF13B, PFKM, ALDOA, AGL, GJA1, BLNK, IGF1, LDHA, C1R, STAT1, CTLA4, TG, BMP2, FOXP3, ITGB2, FN1, VDR, IGF1R, TP53, FASLG, ATP5A1, A2M, AKT1, CDKN1C, TSHB, RAG2, XRCC4, IRS2, STAT2, LYZ, SELP, AIRE, IRS1, ZAP70, B2M, CD59, KNG1, TGFB1, PTPN11, ATM, JAK3, MUC1, CFTR, FCGR2A, RFX5, HLA-B, RFXANK, PLG, ACTN4, TNFRSF11A, IL6, TRH, CALR, APC, HRAS, HLA-DQB1, DNMT3B, ADA, SERPINF2, C8A, CR2, PIGR, TAP2, PEX5, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, GLUTAMINE DEFICIENCY, CONGENITAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT SYNDROME, ATELOSTEOGENESIS, TYPE I, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, D-BIFUNCTIONAL PROTEIN DEFICIENCY, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, HYPOPHOSPHATASIA, INFANTILE, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ALZHEIMER DISEASE, TYPE 4, PSEUDOPSEUDOHYPOPARATHYROIDISM, IMMUNODEFICIENCY 43, COCKAYNE SYNDROME, TYPE A, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, HEPATIC LIPASE DEFICIENCY, NESTOR-GUILLERMO PROGERIA SYNDROME, COMBINED HYPERLIPIDEMIA, FAMILIAL, LEBER OPTIC ATROPHY AND DYSTONIA, ATAXIA-TELANGIECTASIA, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, TIMOTHY SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ALAND ISLAND EYE DISEASE, PEROXISOME BIOGENESIS DISORDER 2B, PERIODIC FEVER, FAMILIAL, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MICROVILLUS INCLUSION DISEASE, PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSONISM-DYSTONIA, INFANTILE, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, NEPHROTIC SYNDROME, TYPE 8, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, UV-SENSITIVE SYNDROME 2, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, C8 DEFICIENCY, TYPE I, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SEGAWA SYNDROME, RECESSIVE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, PSEUDOHYPOPARATHYROIDISM IA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {KURU, SUSCEPTIBILITY TO}, ONCOCYTOMA, FANCONI ANEMIA, COMPLEMENTATION GROUP C, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, PARAGANGLIOMAS 3, PERRAULT SYNDROME 1, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, NOONAN SYNDROME 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ALZHEIMER DISEASE-2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, LIPOPROTEIN LIPASE DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, SMALL CELL CANCER OF THE LUNG, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOKALEMIC PERIODIC PARALYSIS 1, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, HEMOCHROMATOSIS TYPE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE VII, HYPERTHYROIDISM, NONAUTOIMMUNE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, PLASMA FIBRONECTIN DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, EHLERS-DANLOS SYNDROME, TYPE IV, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, GLYCOGEN STORAGE DISEASE XI, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, DICARBOXYLIC AMINOACIDURIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ALEXANDER DISEASE, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HYPOPHOSPHATASIA, CHILDHOOD, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 16, DIABETES INSIPIDUS, NEPHROGENIC, KARTAGENER SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, HYPOBETALIPOPROTEINEMIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, ANDROGEN INSENSITIVITY, PARAGANGLIOMAS 4, XERODERMA PIGMENTOSUM, GROUP B, MYOGLOBINURIA, RECURRENT, SEA-BLUE HISTIOCYTE DISEASE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, XERODERMA PIGMENTOSUM, GROUP D, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, 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, BRODY MYOPATHY, SMITH-KINGSMORE SYNDROME

PEX5, SOD1, NDUFS8, GNAI2, DNAH11, APOE, MYC, PRPH, PRKACA, NDUFA11, GNAS, MYD88, COL3A1, AP2S1, NDUFA1, AGT, GFAP, PPARG, CTNNB1, SLC6A3, RANBP2, DNAH5, CDH1, APOB, SOS1, HCFC1, B2M, NDUFS4, LIPE, SDHC, DNAH8, DNM2, MT-CO3, NDUFV2, WNK1, COX6B1, ERCC2, DNAI1, EMD, GPX1, DNAI2, SMAD4, CREBBP, ARHGDIA, UQCRB, MAFB, LIPC, BCAP31, COX8A, HSD17B4, SDHD, CASP8, FAS, NME1, NOS3, ATP2A1, ERCC3, MAPT, NDUFA12, DNAL1, RYR1, MT-ND6, PSEN1, ABCA1, MT-ND2, CCND1, CACNA1F, ATP6V1B1, AVPR2, PFKM, NDUFS2, NDUFA2, MT-CYB, UQCRQ, HOXA11, TNNT2, GPD1, BDNF, TNFRSF1A, WAS, ERCC8, NDUFA10, INS, IGF1, MC4R, BANF1, ALPL, NDUFB3, MT-ATP6, HSD17B10, LDHA, PAX2, STAT1, PSEN2, NEFH, CASR, NDUFS7, MYO5B, BCS1L, BMP2, POLR2F, MTOR, AKT1, ITPR2, AIP, NDUFS1, CFTR, PARK2, TP53, ATP5A1, SLC25A4, MT-ND1, DCTN1, SPRY2, FN1, DNAH1, NDUFA9, PTEN, ITPR3, TH, DDOST, AXIN1, MT-ND3, RB1, NDUFV1, NDUFS3, AR, FLNA, CD59, MT-ND4, PRNP, TGFB1, SDHA, LPL, TSHR, VCP, GLUD1, MT-CO2, CACNA1C, NOTCH1, PLG, FADD, UQCRC2, NDUFB9, ATM, ACTN4, IL6, SLC1A1, GLUL, FANCC, CACNA1S, MT-ND5, NDUFS6, CALR, TUFM, HRAS, EGFR, ADA, CYC1, C8A, NR3C1, SDHB, MT-CO1, FLNB, CACNA1D, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, LEUKODYSTROPHY, HYPOMYELINATING, 4, MYOPATHY DUE TO CPT II DEFICIENCY, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, CRIGLER-NAJJAR SYNDROME, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE II, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, COPROPORPHYRIA, HARDEROPORPHYRIA, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, [BILIRUBIN, SERUM LEVEL OF, QTL1], COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, CPT DEFICIENCY, HEPATIC, TYPE II, METHYLMALONIC ACIDURIA CBLB TYPE, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, MUCOPOLYSACCHARIDOSIS VII, HEMOCHROMATOSIS, TYPE 4, 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, ANEMIA, SIDEROBLASTIC, 1, HYPERBILIVERDINEMIA, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, [GILBERT SYNDROME], CPT II DEFICIENCY, LETHAL NEONATAL, MYASTHENIC SYNDROME, CONGENITAL, 16, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 4, SUSCEPTIBILITY TO}

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