LABORATORY ABNORMALITIES

THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, HEMOPHILIA A, HEMOPHILIA B, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, FACTOR V DEFICIENCY, FACTOR X DEFICIENCY, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, FACTOR VII DEFICIENCY, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT

PROC, F9, PROS1, F8, F7, F5, GGCX, F10

TUBEROUS SCLEROSIS 2, IMMUNODEFICIENCY 43, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

PDCD1, HLA-DQB1, B2M, IFNG, HLA-DRB1, STAT1, HLA-DQA1, PTPN11

GLYCOGEN STORAGE DISEASE IV, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, PEPCK DEFICIENCY, MITOCHONDRIAL, GLYCOGEN STORAGE DISEASE X, POLYGLUCOSAN BODY DISEASE, ADULT FORM, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, MODY, TYPE II, GLYCOGEN STORAGE DISEASE VI, GLYCOGEN STORAGE DISEASE II, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, FRUCTOSE INTOLERANCE, GLYCOGEN STORAGE DISEASE IXC, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PYRUVATE KINASE DEFICIENCY, MUSCLE GLYCOGENOSIS, GLYCOGEN STORAGE DISEASE 0, LIVER, GLUCOCORTICOID RESISTANCE, MCARDLE DISEASE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 8, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, CITRULLINEMIA, ADULT-ONSET TYPE II, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, GLYCOGEN STORAGE DISEASE XII, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPOMYELINATION, GLOBAL CEREBRAL, GLYCOGEN STORAGE DISEASE VII, ?GLYCOGEN STORAGE DISEASE XIII, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY

NCF1, ALDOA, AGL, GBE1, ALDOB, PHKB, SMAD4, PHKA2, SLC25A12, PGAM2, PYGL, PHKG2, PGK1, PKLR, PYGM, CORO1A, GPI, NHLRC1, PGM1, PCK2, SLC25A1, TPI1, GAA, LIPE, FBP1, PFKM, ENO3, PHKA1, PRKACA, HK1, SLC25A13, NR3C1, GYS2, EPM2A, INS, PC, PCK1, GCK

BARAITSER-WINTER SYNDROME 1, 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, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, MYOPATHY, DISTAL, 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, VON WILLIBRAND DISEASE, TYPE 3, SHORT SYNDROME, 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, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CARDIAC VALVULAR DYSPLASIA, X-LINKED, FACTOR V DEFICIENCY, COMPLEMENT FACTOR D DEFICIENCY, GLANZMANN THROMBASTHENIA, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ATRANSFERRINEMIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, FACTOR XIIIA DEFICIENCY, HEMOPHILIA A, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, DANON DISEASE, KRABBE DISEASE, ATYPICAL, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, AMYLOIDOSIS, FINNISH TYPE, CALCIUM OXALATE UROLITHIASIS, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, THROMBOPHILIA DUE TO HRG DEFICIENCY, THROMBOPHILIA DUE TO ELEVATED HRG, TUBEROUS SCLEROSIS 2, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, ALPHA-2-MACROGLOBULIN DEFICIENCY, COMBINED SAP DEFICIENCY, GALACTOSIALIDOSIS, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, GLYCOGEN STORAGE DISEASE XII, OSTEOGENESIS IMPERFECTA, TYPE XVII, PLASMA FIBRONECTIN DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 5, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, {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}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

ACTA1, SOD1, TF, ITGB3, LAMP2, PROS1, APOA1, MYC, SERPINA1, ACTB, FLNC, FGB, AKT1, TBX19, VWF, CTSA, FLNA, STAT1, MMP2, ALDOA, KNG1, AGT, TGFB1, HRG, LDLR, F8, NOS3, PLG, ITGA2B, FN1, IFNG, CALR, FGA, ACTN4, IGF1R, JAK2, EGFR, SPARC, CD44, TP53, A2M, CDH1, IRS1, TTN, FGG, SERPING1, F13A1, IGF1, PSAP, GSN, SELP, CFD, F5, INS, SERPINF2, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, 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}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CAFFEY DISEASE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, 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, VON WILLEBRAND DISEASE, TYPE 1, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ALPHA-2-MACROGLOBULIN DEFICIENCY, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ANDROGEN INSENSITIVITY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, FLETCHER FACTOR (PREKALLIKREIN) DEFICIENCY, GLANZMANN THROMBASTHENIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ATRANSFERRINEMIA, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, OSTEOGENESIS IMPERFECTA, TYPE XVII, KNIEST DYSPLASIA, ACROMICRIC DYSPLASIA, MYOPATHY, DISTAL, 4, ?MYOSCLEROSIS, CONGENITAL, GELEOPHYSIC DYSPLASIA 2, THYROTROPIN-RELEASING HORMONE DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE IV, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEPHROTIC SYNDROME, TYPE 12, TRYPSINOGEN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOPARATHYROIDISM FAMILIAL ISOLATED, [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, PORENCEPHALY 1, CALCIUM OXALATE UROLITHIASIS, FIBROCHONDROGENESIS 1, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, BETHLEM MYOPATHY 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ALZHEIMER DISEASE, TYPE 4, CEROID LIPOFUSCINOSIS, NEURONAL, 11, PLASMA FIBRONECTIN DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 5, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CEROID LIPOFUSCINOSIS, NEURONAL, 10, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, ALPORT SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

TUFM, PRSS2, CD44, ITGB3, BMP1, COL1A1, AHSG, COL5A1, COL5A2, COL6A2, FLNC, GRN, AKT1, TGFB1, FLNA, PSEN1, AR, CCND1, PSEN2, KLKB1, DAG1, COL6A1, COL11A1, CTSD, VHL, BMP2, COL4A4, PAX2, COL3A1, COL9A3, COL4A3, CDH1, TP53, DNMT1, COL6A3, IL6, PTH, IFNG, FBN2, LRP2, SPARC, COL4A1, TRH, FBN1, TF, NUP93, A2M, FN1, NOTCH1, COL1A2, EGFR, KNG1, PRSS1, SMAD4, CAPN3, AGT, STAT3, COL2A1, PLG, INS, IGF1, COL4A5, PTEN, VWF, MMP2

DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, CHYLOMICRON RETENTION DISEASE, IMMUNODEFICIENCY 43, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}

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

LYSYL HYDROXYLASE 3 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}, BARAITSER-WINTER SYNDROME 1, FACTOR V DEFICIENCY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MULTIPLE SULFATASE DEFICIENCY, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, SHORT SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, 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, COENZYME Q10 DEFICIENCY, PRIMARY, 6, COMBINED FACTOR V AND VIII DEFICIENCY, ATELEIOTIC DWARFISM, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, WERNER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSAUTONOMIA, FAMILIAL, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, SALLA DISEASE, AGAMMAGLOBULINEMIA, X-LINKED 1, ALPHA-2-MACROGLOBULIN DEFICIENCY, PSEUDOHYPOPARATHYROIDISM IC, NEPHROTIC SYNDROME, TYPE 11, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, IMMUNODEFICIENCY 43, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, NOONAN SYNDROME 4, IMMUNODEFICIENCY 23, XERODERMA PIGMENTOSUM, GROUP A, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, VON WILLEBRAND DISEASE, TYPE 1, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, C3 DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 10, PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, DIAMOND-BLACKFAN ANEMIA 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, CHYLOMICRON RETENTION DISEASE, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, BURKITT LYMPHOMA, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, FACTOR X DEFICIENCY, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, PSEUDOHYPOPARATHYROIDISM IA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, RIDDLE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, CAFFEY DISEASE, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), HEREDITARY FACTOR VIII DEFICIENCY DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, NESTOR-GUILLERMO PROGERIA SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, ALZHEIMER DISEASE-2, {MELANOMA, CUTANEOUS MALIGNANT, 2}, COMMON VARIABLE IMMUNODEFICIENCY 1, COMPLEMENT FACTOR D DEFICIENCY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ALAGILLE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, HEMOPHILIA B, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BERGER DISEASE, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HEMOPHILIA A, CALCIUM OXALATE UROLITHIASIS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, METACHROMATIC LEUKODYSTROPHY, HEMOCHROMATOSIS TYPE 1, PLASMA FIBRONECTIN DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ICHTHYOSIS, X-LINKED, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, POLYCYSTIC LIVER DISEASE, BLOOM SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SIALIC ACID STORAGE DISORDER, INFANTILE, FACTOR VII DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), LEUKOCYTE ADHESION DEFICIENCY, GELEOPHYSIC DYSPLASIA 2, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, PROPERDIN DEFICIENCY, X-LINKED, GM1-GANGLIOSIDOSIS, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, VON WILLEBRAND DISEASE, PLATELET-TYPE, ACROMICRIC DYSPLASIA, GM1-GANGLIOSIDOSIS, TYPE III, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, HYPOBETALIPOPROTEINEMIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ?46XY SEX REVERSAL 5, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEPHROTIC SYNDROME, TYPE 12, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, SEA-BLUE HISTIOCYTE DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, DIAMOND-BLACKFAN ANEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, NONAKA MYOPATHY, SMITH-KINGSMORE SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY

APOE, NEU1, CAV1, PIGV, APOB, MYC, PIGW, GP1BA, GNAS, CTSA, RPL5, SLC35A1, PMM2, MGAT2, ALG3, GGCX, CDH1, PROS1, BTK, B2M, SLC17A5, CDKN2A, ALG1, PIGO, COL1A1, LMAN1, ALG2, JAG1, SMAD4, PIGM, IKBKAP, ACTB, KRAS, STT3A, F9, MPI, WRN, PIGT, NOS3, IL6, MTOR, PLOD3, COQ6, MOGS, TAP1, ALG11, COL1A2, GFPT1, PROC, CCND1, MET, IFNG, MUC1, AAAS, CD44, GALNT3, NUP107, SPRY2, STS, ALG6, STAT3, INS, F7, PIGR, BANF1, DPAGT1, GLB1, CTNNB1, IGF1, VWF, C3, STAT1, GMPPB, NFKB2, COL4A1, BMP2, F10, BRCA1, ITGB2, FN1, MMP2, AXIN1, CFTR, TP53, EGFR, PGM3, ADAMTS13, NUP93, A2M, AKT1, DPM2, DNMT3B, RPS19, ARSA, GNE, XRCC4, XPC, CFP, DDOST, ITGA6, F5, SUMF1, SELP, VKORC1, PIGA, FLNA, CHEK2, DPM1, PRKCSH, TGFB1, RFT1, GMPPA, F8, NOTCH1, SOS1, RANBP2, BLM, CBX2, SRD5A3, B4GALT1, FBN1, CALR, HRAS, DOLK, MPDU1, SAR1B, RNF168, CFD, ARSB, KDR, DHFR, ALG13, PIGN, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, CAFFEY DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, VON WILLEBRAND DISEASE, TYPE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, VON WILLIBRAND DISEASE, TYPE 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, LEUKOCYTE ADHESION DEFICIENCY, 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, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, GLANZMANN THROMBASTHENIA, ?MYOSCLEROSIS, CONGENITAL, KNIEST DYSPLASIA, ACROMICRIC DYSPLASIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], HYPOBETALIPOPROTEINEMIA, {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}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, PORENCEPHALY 1, CALCIUM OXALATE UROLITHIASIS, BETHLEM MYOPATHY 1, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PLASMA FIBRONECTIN DEFICIENCY, GELEOPHYSIC DYSPLASIA 2, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, EHLERS-DANLOS SYNDROME, TYPE IV, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ALPORT SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CALR, ITGB3, APOB, COL1A1, COL4A1, COL6A2, NOS3, FGB, TGFB1, VWF, COL5A2, DAG1, COL6A1, COL4A4, COL3A1, COL9A3, ITGB2, ITGA2B, FN1, MMP2, FGA, LYZ, COL4A3, ITGA3, FBN1, COL4A5, CD44, KDR, COL1A2, COL5A1, CDH1, FASLG, ITGA7, FGG, SELP, ITGA6, COL2A1, COL6A3

{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}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, MAY-HEGGLIN ANOMALY, SHORT SYNDROME, SELECTIVE T-CELL DEFECT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, GLUCOCORTICOID RESISTANCE, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, FECHTNER SYNDROME, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, SEBASTIAN SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, EPSTEIN SYNDROME, RABSON-MENDENHALL SYNDROME, {CELIAC DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 43, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

ACTA1, EGFR, B2M, WAS, MYH9, ZAP70, PTEN, ITK, HLA-DRB1, NR3C1, HLA-DQB1, INSR, PTPN11, HLA-DQA1, PIK3R1, PIK3CA, BCL10, AKT1, TNFRSF1A

SEA-BLUE HISTIOCYTE DISEASE, {HYPERTRIGLYCERIDEMIA, SUSCEPTIBILITY TO}, COMBINED HYPERLIPIDEMIA, FAMILIAL, HYPOBETALIPOPROTEINEMIA, LIPOPROTEIN LIPASE DEFICIENCY, HYPERCHYLOMICRONEMIA, LATE-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}, ABETALIPOPROTEINEMIA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {METABOLIC SYNDROME, PROTECTION AGAINST}, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, TANGIER DISEASE, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, HYPERLIPOPROTEINEMIA, TYPE IB, ALZHEIMER DISEASE-2

LPL, APOE, APOA2, LDLR, APOA1, MTTP, APOA5, INS, APOB, APOC2

PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PARAGANGLIOMAS 3, GLYCOGEN STORAGE DISEASE XI, HYPERPARATHYROIDISM 1, FUMARASE DEFICIENCY, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, LEIOMYOMATOSIS AND RENAL CELL CANCER, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, PARAGANGLIOMAS 4, D-2-HYDROXYGLUTARIC ACIDURIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, GLUCOCORTICOID DEFICIENCY 4, L-2-HYDROXYGLUTARIC ACIDURIA, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), ERYTHROCYTE LACTATE TRANSPORTER DEFECT, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY

VDR, FH, PDHX, OGDH, SLC16A1, DLD, SUCLG1, LDHA, D2HGDH, SUCLA2, SDHC, SDHD, SDHB, MPC1, PDP1, MEN1, NNT, L2HGDH, DLAT, PDHA1, SDHA

?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, LACTASE DEFICIENCY, CONGENITAL, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, GM1-GANGLIOSIDOSIS, TYPE II, MCARDLE DISEASE, FRUCTOSE INTOLERANCE, MUCOPOLYSACCHARIDOSIS II, GLYCOGEN STORAGE DISEASE 0, LIVER, MUCOPOLYSACCHARIDOSIS, MPS-III-A, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), BURKITT LYMPHOMA, GM1-GANGLIOSIDOSIS, TYPE III, MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUCOPOLYSACCHARIDOSIS IS, MUCOPOLYSACCHARIDOSIS IH/S, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, [FRUCTOSURIA], MUCOPOLYSACCHARIDOSIS IVA, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY)

NEU1, GLB1, LCT, ALDOB, MYC, SMAD4, NHLRC1, GNS, HYAL1, GATA4, GUSB, IDS, PYGM, GYS2, HGSNAT, NAGLU, SGSH, GALNS, KHK, ARSB, SI, IDUA, EPM2A

LYSYL HYDROXYLASE 3 DEFICIENCY, 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}, REVESZ SYNDROME, FACTOR V DEFICIENCY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, HYPERPARATHYROIDISM 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, PROGRESSIVE MYOCLONIC 6, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, BARTH SYNDROME, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, LACTASE DEFICIENCY, CONGENITAL, GM1-GANGLIOSIDOSIS, TYPE II, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ADENYLOSUCCINASE DEFICIENCY, SELECTIVE T-CELL DEFECT, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, DIAMOND-BLACKFAN ANEMIA 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 43, COENZYME Q10 DEFICIENCY, PRIMARY, 6, COMBINED FACTOR V AND VIII DEFICIENCY, GLUCOCORTICOID RESISTANCE, ATELEIOTIC DWARFISM, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, 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, GLANZMANN THROMBASTHENIA, HEMOCHROMATOSIS TYPE 1, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, WERNER SYNDROME, ?HEMOCHROMATOSIS, TYPE 5, FACTOR VII DEFICIENCY, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, DIAMOND-BLACKFAN ANEMIA 3, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSAUTONOMIA, FAMILIAL, HERMANSKY-PUDLAK SYNDROME 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AGAMMAGLOBULINEMIA, X-LINKED 1, KOWARSKI SYNDROME, PORENCEPHALY 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, CEROID LIPOFUSCINOSIS, NEURONAL, 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, ATRANSFERRINEMIA, [URIC ACID CONCENTRATION, SERUM, QTL1], SALLA DISEASE, ALBINISM, OCULOCUTANEOUS, TYPE III, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, COWCHOCK SYNDROME, MANDIBULOACRAL DYSPLASIA, NEPHROTIC SYNDROME, TYPE 11, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, RUBINSTEIN-TAYBI SYNDROME, DIAMOND-BLACKFAN ANEMIA 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ACUTE MYELOID LEUKEMIA, M6 TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, ATRIOVENTRICULAR SEPTAL DEFECT 3, IMMUNODEFICIENCY 23, ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, VLCAD DEFICIENCY, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, BLOOM SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, PERIODIC FEVER, FAMILIAL, SPLENIC HYPOPLASIA, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, PLASMA FIBRONECTIN DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, DIAMOND-BLACKFAN ANEMIA 8, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, HEMOCHROMATOSIS, TYPE 2B, PITUITARY DEPENDENT HYPERCORTISOLISM, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, DIAMOND-BLACKFAN ANEMIA 13, COENZYME Q10 DEFICIENCY, PRIMARY, 1, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, KENNY-CAFFEY SYNDROME, TYPE 1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, DIAMOND-BLACKFAN ANEMIA 9, SHORT SYNDROME, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEPHROTIC SYNDROME, TYPE 8, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, CITRULLINEMIA, ADULT-ONSET TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, CHYLOMICRON RETENTION DISEASE, ACETYL-COA CARBOXYLASE DEFICIENCY, TUBEROUS SCLEROSIS 2, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, BURKITT LYMPHOMA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, IMMUNODEFICIENCY 44, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, HARTNUP DISORDER, MALOUF SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, FACTOR X DEFICIENCY, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, IMMUNODEFICIENCY, COMMON VARIABLE, 10, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], SEGAWA SYNDROME, RECESSIVE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, HEMOPHILIA A, PSEUDOHYPOPARATHYROIDISM IA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPERGLYCINURIA, RIDDLE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, POLYCYTHEMIA VERA, SOMATIC, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), HEREDITARY FACTOR VIII DEFICIENCY DISEASE, CARBOXYPEPTIDASE N DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, NESTOR-GUILLERMO PROGERIA SYNDROME, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, NIEMANN-PICK DISEASE, TYPE C2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, {MELANOMA, CUTANEOUS MALIGNANT, 2}, {MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 14}, COMMON VARIABLE IMMUNODEFICIENCY 1, ?DIAMOND-BLACKFAN ANEMIA 12, COMPLEMENT FACTOR D DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, HMG-COA LYASE DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ALAGILLE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], SMALL CELL CANCER OF THE LUNG, SOMATIC, DIAMOND-BLACKFAN ANEMIA 4, NOONAN SYNDROME 4, HEMOPHILIA B, THYROTROPIN-RELEASING HORMONE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, XERODERMA PIGMENTOSUM, TYPE 1, MODY, TYPE III, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, THYROID DYSHORMONOGENESIS 3, CALCIUM OXALATE UROLITHIASIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, METACHROMATIC LEUKODYSTROPHY, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HYPOMYELINATION, GLOBAL CEREBRAL, HYPERTHYROIDISM, NONAUTOIMMUNE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, CARDIOMYOPATHY, DILATED, 1A, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, IMINOGLYCINURIA, DIGENIC, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ?PRECOCIOUS PUBERTY, CENTRAL, 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, SEA-BLUE HISTIOCYTE DISEASE, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, ANGIOEDEMA, HEREDITARY, TYPES I AND II, SIALURIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, POLYCYSTIC LIVER DISEASE, SIALIC ACID STORAGE DISORDER, INFANTILE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ALPHA-2-MACROGLOBULIN DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, DIABETES INSIPIDUS, NEPHROGENIC, ALEXANDER DISEASE, GELEOPHYSIC DYSPLASIA 2, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, CAFFEY DISEASE, MYOPATHY, MYOFIBRILLAR, 2, PROPERDIN DEFICIENCY, X-LINKED, C3 DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, XERODERMA PIGMENTOSUM, GROUP D, BARAITSER-WINTER SYNDROME 1, ASPARAGINE SYNTHETASE DEFICIENCY, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, VON WILLEBRAND DISEASE, PLATELET-TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, ACROMICRIC DYSPLASIA, GM1-GANGLIOSIDOSIS, TYPE III, HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, HYPOBETALIPOPROTEINEMIA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ?46XY SEX REVERSAL 5, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEPHROTIC SYNDROME, TYPE 12, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, DIAMOND-BLACKFAN ANEMIA 7, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LIPOID ADRENAL HYPERPLASIA, ICHTHYOSIS, X-LINKED, XERODERMA PIGMENTOSUM, GROUP B, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, 2-METHYLBUTYRYLGLYCINURIA, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, C4A DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, MASP2 DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, DIAMOND-BLACKFAN ANEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, 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, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, SMITH-KINGSMORE SYNDROME, NONAKA MYOPATHY

SOD1, RPL5, FECH, ADAMTS13, CAV1, PIGV, DISC1, LCT, ISCU, MYC, DNAJC19, ADSL, F8, ACTB, RPS17, FAS, GNAS, MYD88, RPS7, CTSA, ATP6V1B1, SLC35A1, TPP1, MGAT2, AGT, MTHFD1, PMM2, PPARG, CTNNB1, PROS1, CCT5, HMGCL, SLC11A2, CDH1, APOB, BTK, HCFC1, B2M, KISS1R, SLC17A5, CDKN2A, TBCE, SELP, RANBP2, CIITA, SMAD4, PIGO, MASP2, IKBKAP, FANCA, RPL15, COL1A1, LMAN1, ALG2, AR, CDC73, ACADSB, ERCC2, HTR2A, ARHGDIA, GFPT1, SERPING1, COQ2, IGF1, WFS1, CYC1, XPC, MAFB, SLC6A19, MITF, CFB, ACTA1, PRSS2, GP1BA, XRCC4, KRAS, STT3A, PLAU, EGFR, SERPINA1, PTEN, CREBBP, PLA2G7, MPI, WRN, KNG1, ZAP70, TCF7L2, PARN, ERCC3, CBX2, MAPT, PROC, SMAD9, SKIV2L, LPIN1, PLOD3, NPC2, NOS3, NEU1, COQ6, MOGS, TAP1, ALG11, COL1A2, AKT2, RPS29, STAT2, ABCA1, IFNG, CALR, AIFM1, BMPR1A, COPA, GFAP, GNAI2, CCND1, PTH, C4A, JAK2, SLC30A8, MUC1, SLC25A13, PIGT, MEN1, GALNT3, HSPD1, FKBP14, MAX, CLPB, SPRY2, CASR, TSHR, STS, SUMF1, ALG6, FGF23, NKX2-1, ACADVL, TNFRSF1A, STAT3, DTNBP1, BRAF, NOTCH1, INS, MPDU1, F7, TYRP1, NFKB2, PIGR, CD44, TUFM, CP, BANF1, TF, GLB1, ARSB, GJA1, TG, TNPO3, SSR4, SCO2, PIGW, HSD17B10, ATP5A1, COL4A1, SDHD, VWF, CBS, C3, MC2R, GMPPB, FLNA, TAZ, CTSD, VHL, ALG3, BCS1L, DPM1, MET, BMP2, F10, BRCA1, ITGB2, AKT1, MMP2, PCSK1, TSC2, GGCX, SETD1A, DCTN1, TP53, SEC63, DOLK, PGM3, SLC25A4, HFE, NUP107, RPSA, RPS10, NUP93, A2M, FN1, JAG1, DPM2, HNF1A, TSHB, ABCG2, ARSA, GNE, ACADM, AQP2, ECHS1, CD59, HAMP, TH, IRS2, CFP, DDOST, ITGA6, F5, SRD5A3, SERPINF2, VKORC1, VDR, SERPINC1, F9, ASNS, IGF2BP2, PCBD1, KRT8, ACACA, CHEK2, RNF168, RETN, NR3C1, PIGA, PIGM, LHCGR, PRKCSH, TXN2, TGFB1, RFT1, PTPN11, ATM, GATA4, PIGN, CFTR, PDHA1, STAT1, APPL1, GOSR2, MT-CO2, FXN, APOE, INSR, RPL35A, PLG, SOS1, LMNA, ALG1, BLM, DNMT1, CPN1, ACTN4, TINF2, IL6, RB1, STAR, RPL11, GMPPA, CRYAB, B4GALT1, STX11, TRH, FBN1, DPAGT1, APC, RPS24, HRAS, FTH1, FASLG, RPS19, DNMT3B, AAAS, EPOR, MYH11, SLC25A12, SAR1B, CFD, ITGB3, SIL1, KDR, GH1, DHFR, ALG13, MTOR, PIK3R1

?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, LEUKODYSTROPHY, HYPOMYELINATING, 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, POLYCYSTIC LIVER DISEASE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8

YARS2, RARS2, IARS2, EARS2, SEC63, SARS2, CARS2, FARS2, AARS2, SMAD4, MARS2, NARS2, TARS2, HSPD1, CPS1

TRYPSINOGEN DEFICIENCY, CREATINE PHOSPHOKINASE, ELEVATED SERUM, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, VON WILLIBRAND DISEASE, TYPE 3, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, TRANSCOBALAMIN II DEFICIENCY, DONNAI-BARROW SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, METHYLMALONIC ACIDURIA CBLB TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, INTRINSIC FACTOR DEFICIENCY, PERRAULT SYNDROME 5, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, MYOPATHY, DISTAL, TATEYAMA TYPE, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

AMN, LRP2, MTPAP, MMADHC, MTR, MUT, CUBN, PRSS1, CAV3, MMAA, GIF, VWF, MMAB, LMBRD1, MTRR, C10orf2, TCN2, MMACHC, ABCD4

CREATINE PHOSPHOKINASE, ELEVATED SERUM, RIPPLING MUSCLE DISEASE, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, TRANSCOBALAMIN II DEFICIENCY, DONNAI-BARROW SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, METHYLMALONIC ACIDURIA CBLB TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, INTRINSIC FACTOR DEFICIENCY, PERRAULT SYNDROME 5, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, METHYLMALONIC ACIDURIA, MUT(0) TYPE, MYOPATHY, DISTAL, TATEYAMA TYPE, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

AMN, LRP2, MTPAP, MMADHC, MTR, MUT, MMAA, CAV3, MMAB, GIF, LMBRD1, C10orf2, MTRR, CUBN, MMACHC, TCN2

LYSYL HYDROXYLASE 3 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}, CAFFEY DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, 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, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, SHORT SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?MYOSCLEROSIS, CONGENITAL, PORENCEPHALY 1, ATRANSFERRINEMIA, BRUCK SYNDROME 2, KNIEST DYSPLASIA, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEPHROTIC SYNDROME, TYPE 12, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOPARATHYROIDISM FAMILIAL ISOLATED, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, CALCIUM OXALATE UROLITHIASIS, AGAMMAGLOBULINEMIA 3, BETHLEM MYOPATHY 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE VIII, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, EHLERS-DANLOS SYNDROME, TYPE VI, PLASMA FIBRONECTIN DEFICIENCY, IMMUNODEFICIENCY 43, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, ALPORT SYNDROME, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1

TF, MMP2, BMP1, MYC, COL4A1, PLEC, ITGB4, CD79A, PIK3CA, COL3A1, CCND1, COL6A1, COL11A1, CIITA, TGFB1, PLOD3, STAT3, COL5A1, BMP2, COL5A2, COL9A3, AKT1, TP53, PLOD1, B2M, COL4A4, ITGA6, COL4A3, PTH, NR0B1, COL4A5, PLOD2, COL1A1, CD44, IL6, NUP93, FN1, COL6A2, COL1A2, LRP2, P3H1, COL2A1, COL6A3, INS, TUFM, PIK3R1

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA

FAS, CASP10, FASLG, CASP8, FADD

BARAITSER-WINTER SYNDROME 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, GALACTOSE EPIMERASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, CAFFEY DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, GALACTOSEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, GALACTOKINASE DEFICIENCY WITH CATARACTS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, CALCIUM OXALATE UROLITHIASIS, ACHONDROGENESIS IB, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, MACULAR CORNEAL DYSTROPHY, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, NONAKA MYOPATHY

CHST6, SRD5A3, SLC26A2, COL1A1, EGFR, PIGA, DPAGT1, PGM1, TGFB1, MPI, NOS3, B4GALT1, DAG1, MGAT2, B4GALT7, PMM2, MOGS, ALG3, ALG11, NOTCH1, GALT, GFPT1, GALE, SDHD, GALK1, DPM1, ALG1, NEU1, DPM2, ATP5A1, PAPSS2, CD44, ALG2, COL1A2, DOLK, MPDU1, GNE, ACTB, ALG6, RFT1, ALG13

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ

B4GALT1, MPDU1, MGAT2, ALG6, MOGS, RFT1, ALG3, ALG11, DPAGT1, ALG2, ALG13, ALG1, NOTCH1

TRIFUNCTIONAL PROTEIN DEFICIENCY, PROPIONICACIDEMIA, METHYLMALONIC ACIDURIA CBLB TYPE, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, METHYLMALONYL-COA EPIMERASE DEFICIENCY, VLCAD DEFICIENCY, VON WILLIBRAND DISEASE, TYPE 3, VON WILLEBRAND DISEASE, 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, METHYLMALONIC ACIDURIA, MUT(0) TYPE, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

MMAA, PCCB, HADH, MCEE, ECHS1, ETFA, ACADM, ACADVL, MUT, ACADS, UQCRC2, PCCA, HADHA, AKT1, VWF, HADHB

METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, BURKITT LYMPHOMA, NIEMANN-PICK DISEASE, TYPE A, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, MULTIPLE SULFATASE DEFICIENCY, GAUCHER DISEASE, PERINATAL LETHAL, ICHTHYOSIS, X-LINKED, KRABBE DISEASE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GM2-GANGLIOSIDOSIS, AB VARIANT, CEROID LIPOFUSCINOSIS NEURONAL 6, GM1-GANGLIOSIDOSIS, TYPE III, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, FARBER LIPOGRANULOMATOSIS, GAUCHER DISEASE, TYPE III, NIEMANN-PICK DISEASE, TYPE B, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, METACHROMATIC LEUKODYSTROPHY, COMBINED SAP DEFICIENCY, GALACTOSIALIDOSIS, GAUCHER DISEASE, TYPE II, GAUCHER DISEASE, TYPE IIIC, KRABBE DISEASE, ATYPICAL, GAUCHER DISEASE, TYPE I, SMITH-KINGSMORE SYNDROME

MARS2, CAV1, SMPD1, MYC, HEXB, CTSA, GLB1, ARSA, ASAH1, HEXA, NOS3, GALC, PSAP, MRPL3, GBA, GLA, NEU1, ARSB, STS, GM2A, SUMF1, MTOR

TRIFUNCTIONAL PROTEIN DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4

HADH, ACADM, HADHB, ECHS1, ACADVL, ACADS, HADHA, CPS1

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}, CAFFEY DISEASE, PORENCEPHALY 1, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, GLANZMANN THROMBASTHENIA, ?MYOSCLEROSIS, CONGENITAL, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE XVII, KNIEST DYSPLASIA, WERNER SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOPHOSPHATEMIC RICKETS, AR, BURKITT LYMPHOMA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, BETHLEM MYOPATHY 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PIERSON SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, PLASMA FIBRONECTIN DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, EHLERS-DANLOS SYNDROME, TYPE IV, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, ALPORT SYNDROME, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1

ITGB3, MYC, IGF1, COL4A1, COL6A2, LAMA2, TGFB1, WRN, COL5A2, COL1A1, DAG1, COL6A1, AGT, VHL, COL4A4, BMP2, NOS3, COL9A3, ITGB2, ITGA2B, FGA, COL2A1, COL4A3, COL3A1, COL6A3, SPARC, LAMB2, COL4A5, CALR, MAPK8IP1, COL5A1, FN1, COL1A2, ITGA7, TNXB, KDR, PLG, INS, DMP1

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, POLYCYTHEMIA VERA, SOMATIC, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LEUKODYSTROPHY, HYPOMYELINATING, 4, IMMUNODEFICIENCY 43, ENHANCED S-CONE SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, DIAMOND-BLACKFAN ANEMIA 6, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PAGET DISEASE OF BONE 3, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, CARPAL TUNNEL SYNDROME, FAMILIAL, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CALCIUM OXALATE UROLITHIASIS, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, TUBEROUS SCLEROSIS 2, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

GATA1, TTR, CALR, CIITA, OAS1, SQSTM1, BCL10, PTPN11, RPL5, NTRK1, HLA-DRB1, HLA-B, JAK2, B2M, ACTN4, IL6, IFNG, STAT1, BDNF, CD44, HSPD1, HLA-DQB1, SPRY2, PTPN1, STX11, NR2E3, HLA-DQA1

HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, TRIMETHYLAMINURIA, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, CRIGLER-NAJJAR SYNDROME, TYPE I, {THIOPURINES, POOR METABOLISM OF, 1}, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, CRIGLER-NAJJAR SYNDROME, TYPE II, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 5-OXOPROLINASE DEFICIENCY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, [BILIRUBIN, SERUM LEVEL OF, QTL1], ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, 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, DIAMOND-BLACKFAN ANEMIA 6, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, BRUNNER SYNDROME, HYPERCALCEMIA, INFANTILE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, AMINOACYLASE 1 DEFICIENCY, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, 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, LATHOSTEROLOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, [GILBERT SYNDROME], OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, GLUTATHIONE SYNTHETASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, CEREBROTENDINOUS XANTHOMATOSIS

UGT1A1, OPLAH, NDUFS3, TPMT, FMO3, CYP7B1, CYP27A1, SC5D, CYP27B1, MC2R, CYP11B2, GSS, ACY1, VDR, MRPL3, PTH, NR0B1, RPL5, GATA4, INS, MAT1A, MYC, AKT1, UGT1A4, CYP11B1, POR, CYP21A2, GCLC, CYP24A1, AHCY, CYP17A1, MAOA, CYP2R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], {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, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ERYTHROCYTOSIS, FAMILIAL, 2, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ATELOSTEOGENESIS, TYPE I, {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, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYTHEMIA VERA, SOMATIC, DIAMOND-BLACKFAN ANEMIA 6, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, RUBINSTEIN-TAYBI SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, PAGET DISEASE OF BONE 3, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, AICARDI-GOUTIERES SYNDROME 5, ENHANCED S-CONE SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AICARDI-GOUTIERES SYNDROME 6, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEPHROTIC SYNDROME, TYPE 12, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, HERMANSKY-PUDLAK SYNDROME 1, {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}, CARPAL TUNNEL SYNDROME, FAMILIAL, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CALCIUM OXALATE UROLITHIASIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, TUBEROUS SCLEROSIS 2, IMMUNODEFICIENCY 44, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, NEPHROTIC SYNDROME, TYPE 11, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, JOHANSON-BLIZZARD SYNDROME, IMMUNODEFICIENCY 43, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ARGININEMIA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1

GATA1, RPL5, TTR, CD44, TP53, CIITA, STX11, OAS1, FAS, ACTN4, SQSTM1, NTRK1, UBR1, TAP1, IGF1R, TGFB1, DTNBP1, HLA-DRB1, VHL, HLA-B, SAMHD1, NR2E3, BCL10, RANBP2, CCND1, FLNB, B2M, PSMB8, IL6, JAK2, STAT1, HLA-DQB1, BDNF, DCTN1, CALR, NUP93, HSPD1, PTPN11, NUP107, EGFR, SPRY2, PTPN1, IFNG, CFTR, AAAS, CREBBP, STAT3, STAT2, HLA-DQA1, INS, ADAR, ARG1, MYD88

[DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], CAFFEY DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, MAY-HEGGLIN ANOMALY, SHORT SYNDROME, 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, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, DUCHENNE MUSCULAR DYSTROPHY, GLANZMANN THROMBASTHENIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, COWCHOCK SYNDROME, KNIEST DYSPLASIA, ERYTHROCYTOSIS, FAMILIAL, 2, FECHTNER SYNDROME, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, NEPHROTIC SYNDROME, TYPE 12, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CARPAL TUNNEL SYNDROME, FAMILIAL, SEBASTIAN SYNDROME, PORENCEPHALY 1, BECKER MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, BETHLEM MYOPATHY 1, EPSTEIN SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PIERSON SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PLASMA FIBRONECTIN DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, ALPORT SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY

AIFM1, TTR, ITGB3, MMP2, COL1A1, COL4A1, LAMA2, ITGB4, COL5A2, MYH9, COL11A1, TGFB1, DMD, VHL, COL4A4, COL3A1, COL6A1, CDH1, FGA, ITGA6, COL4A3, COL4A5, LAMB2, PTPN11, NUP93, COL5A1, FN1, COL1A2, EGFR, DAG1, COL2A1, PIK3R1

LYSYL HYDROXYLASE 3 DEFICIENCY, CAFFEY DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, SHORT SYNDROME, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ?MYOSCLEROSIS, CONGENITAL, BRUCK SYNDROME 2, KNIEST DYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, PORENCEPHALY 1, CALCIUM OXALATE UROLITHIASIS, AGAMMAGLOBULINEMIA 3, BETHLEM MYOPATHY 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE VIII, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, EHLERS-DANLOS SYNDROME, TYPE VI, PLASMA FIBRONECTIN DEFICIENCY, IMMUNODEFICIENCY 43, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, ALPORT SYNDROME

BMP1, COL1A1, COL4A1, COL6A2, CD79A, COL5A2, COL6A1, COL11A1, CIITA, TGFB1, PLOD3, COL4A4, BMP2, COL3A1, COL9A3, AKT1, PLOD1, B2M, ITGA6, COL4A3, PTH, COL4A5, PLOD2, CD44, COL1A2, COL5A1, FN1, P3H1, COL2A1, COL6A3, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, OROTIC ACIDURIA, DIHYDROPYRIMIDINURIA, {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, HYPER-IGE RECURRENT INFECTION SYNDROME, GLUTAMINE DEFICIENCY, CONGENITAL, 5-FLUOROURACIL TOXICITY, DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, GLYCINE ENCEPHALOPATHY, ANEMIA, HEMOLYTIC, DUE TO UMPH1 DEFICIENCY, WILSON DISEASE, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, ADENYLOSUCCINASE DEFICIENCY, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, RETINITIS PIGMENTOSA 10, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE 1, ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE PEROXIDASE DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY), MITOCHONDRIAL DNA DEPLETION SYNDROME 8B (MNGIE TYPE), IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, LESCH-NYHAN SYNDROME, XANTHINURIA, TYPE I, HPRT-RELATED GOUT, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), 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, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, HYPERTHYROIDISM, NONAUTOIMMUNE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, {THIOPURINES, POOR METABOLISM OF, 2}, MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY

TUFM, DAO, HPRT1, MYC, ADSL, GLDC, NME1, TYMP, DGUOK, GLUL, IL6, CAD, PNP, UMPS, BCS1L, GPX1, AKT1, TK2, AMPD1, DPYS, NUDT15, APRT, NT5C3A, HSPD1, AGXT, DPYD, ATP7B, TSHR, XDH, RRM2B, PRPH, ADA, STAT3, IMPDH1, ADK, UPB1, ATIC

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, COPROPORPHYRIA, HARDEROPORPHYRIA, LEUKODYSTROPHY, HYPOMYELINATING, 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, CRIGLER-NAJJAR SYNDROME, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE II, MAY-HEGGLIN ANOMALY, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, [BILIRUBIN, SERUM LEVEL OF, QTL1], COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, FECHTNER SYNDROME, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, SEBASTIAN SYNDROME, HYPERBILIVERDINEMIA, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, ANEMIA, SIDEROBLASTIC, 1, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, EPSTEIN SYNDROME, [GILBERT SYNDROME], MYASTHENIC SYNDROME, CONGENITAL, 16

HMBS, FECH, MRPL3, BLVRA, MYH9, ALAS2, CPOX, UGT1A1, UROD, COX15, UGT1A4, PPOX, INS, ALAD, HSPD1, UROS, COX10

CREATINE PHOSPHOKINASE, ELEVATED SERUM, RIPPLING MUSCLE DISEASE, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, TRANSCOBALAMIN II DEFICIENCY, DONNAI-BARROW SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, ACETYL-COA CARBOXYLASE DEFICIENCY, INTRINSIC FACTOR DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PERRAULT SYNDROME 5, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, MYOPATHY, DISTAL, TATEYAMA TYPE, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, BIOTINIDASE DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL

AMN, CAV3, HLCS, GIF, MMAB, MTR, PCCB, BTD, PCCA, MCCC2, ACACA, MTPAP, C10orf2, MMADHC, MUT, UQCRC2, MCCC1, PC, TCN2, MMACHC, MTRR, LRP2, MMAA, LMBRD1, CUBN

PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, CAFFEY DISEASE, 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, VON WILLEBRAND DISEASE, TYPE 1, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?MYOSCLEROSIS, CONGENITAL, KNIEST DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE IV, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, PORENCEPHALY 1, CALCIUM OXALATE UROLITHIASIS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, BETHLEM MYOPATHY 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, CEROID LIPOFUSCINOSIS, NEURONAL, 11, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CEROID LIPOFUSCINOSIS, NEURONAL, 10, FIBROCHONDROGENESIS 1, ALPORT SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

COL3A1, PRSS2, MMP2, COL1A1, COL4A1, COL6A2, GRN, TGFB1, VWF, PAX2, IL6, COL6A1, COL11A1, CTSD, VHL, COL4A4, BMP2, COL5A2, COL6A3, CDH1, COL9A3, COL4A3, PTH, TP53, COL4A5, CD44, COL1A2, COL5A1, NOTCH1, STAT3, COL2A1, INS

PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, GLYCOGEN STORAGE DISEASE VI, {THIOPURINES, POOR METABOLISM OF, 1}, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, 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, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, BURKITT LYMPHOMA, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, HYPERCALCEMIA, INFANTILE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, MUCOPOLYSACCHARIDOSIS IS, HYPOPARATHYROIDISM FAMILIAL ISOLATED, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, CEREBROTENDINOUS XANTHOMATOSIS, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, ICHTHYOSIS, X-LINKED, RIPPLING MUSCLE DISEASE, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, TRANSCOBALAMIN II DEFICIENCY, [BILIRUBIN, SERUM LEVEL OF, QTL1], MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DIAMOND-BLACKFAN ANEMIA 6, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, BRUNNER SYNDROME, DIAMOND-BLACKFAN ANEMIA 9, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, MUCOPOLYSACCHARIDOSIS II, ACETYL-COA CARBOXYLASE DEFICIENCY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, MYOPATHY, DISTAL, TATEYAMA TYPE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, LACTASE DEFICIENCY, CONGENITAL, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D, VITAMIN D-DEPENDENT RICKETS, TYPE I, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CRIGLER-NAJJAR SYNDROME, TYPE I, CRIGLER-NAJJAR SYNDROME, TYPE II, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, FRUCTOSE INTOLERANCE, GLYCOGEN STORAGE DISEASE 0, LIVER, METHYLMALONIC ACIDURIA CBLB TYPE, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS IH/S, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, LATHOSTEROLOSIS, PERRAULT SYNDROME 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, [GILBERT SYNDROME], [FRUCTOSURIA], 5-OXOPROLINASE DEFICIENCY, TRIMETHYLAMINURIA, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, BIOTINIDASE DEFICIENCY, VON WILLEBRAND DISEASE, TYPE 1, VON WILLIBRAND DISEASE, TYPE 3, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, AMINOACYLASE 1 DEFICIENCY, GM1-GANGLIOSIDOSIS, TYPE II, PYRUVATE CARBOXYLASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS, MPS-III-A, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, GM1-GANGLIOSIDOSIS, TYPE III, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, MYOGLOBINURIA, RECURRENT, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, GLUTATHIONE SYNTHETASE DEFICIENCY, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MUCOPOLYSACCHARIDOSIS IVA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

UGT1A1, HLCS, LCT, OPLAH, MYC, FMO3, NHLRC1, CYP27A1, RPL5, CYP11B2, GUSB, GSS, HIBCH, UGT1A4, ACY1, MCCC2, IDUA, MTPAP, MCCC1, NEU1, GALNS, CYP11B1, POR, IGF1, CYP7B1, MAOA, CYP2R1, AMN, APOA1, QDPR, GCLC, PYGL, IDS, HYAL1, BTD, LMBRD1, PTH, NR0B1, MC2R, MAT1A, SGSH, MT-CYB, RPS10, SI, STS, CYP21A2, CYP24A1, INS, CUBN, PCCB, TUFM, CAV3, GLB1, MMAB, SMAD4, VWF, GNS, CYP27B1, SC5D, CASR, AKT1, VDR, ACACA, MRPL3, NAGLU, MUT, ALDOB, MMACHC, ARSB, MMAA, ABCD3, HGSNAT, PAH, NDUFS3, GIF, PCBD1, TPMT, GATA4, DRD3, MTR, MT-CO2, PCCA, GYS2, EPM2A, MMADHC, TCN2, MTRR, KHK, LRP2, AHCY, C10orf2, CYP17A1, PC

LEUKODYSTROPHY, HYPOMYELINATING, 4, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, AICARDI-GOUTIERES SYNDROME 5, {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}, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 43, AICARDI-GOUTIERES SYNDROME 6, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 44, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, TUBEROUS SCLEROSIS 2

TAP1, B2M, PTPN1, OAS1, IFNG, HLA-DRB1, STAT1, EGFR, STAT3, HLA-B, PTPN11, PSMB8, STAT2, ADAR, HSPD1, TP53, SAMHD1

FACTOR XIIIA DEFICIENCY, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, HEMOPHILIA A, FACTOR XIIIB DEFICIENCY, TUBEROUS SCLEROSIS 2, ALPHA-2-MACROGLOBULIN DEFICIENCY, FACTOR V DEFICIENCY, FACTOR X DEFICIENCY, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY, PLASMA FIBRONECTIN DEFICIENCY, IMMUNODEFICIENCY 43, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}

FGA, SERPINC1, SERPIND1, FGG, PROS1, F13A1, B2M, F8, FGB, THBD, PROC, F5, FN1, A2M, F13B, F10

{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}, CAFFEY DISEASE, BURKITT LYMPHOMA, 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, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ?MYOSCLEROSIS, CONGENITAL, PORENCEPHALY 1, KNIEST DYSPLASIA, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEPHROTIC SYNDROME, TYPE 12, OSTEOGENESIS IMPERFECTA, TYPE XIII, HYPOPARATHYROIDISM FAMILIAL ISOLATED, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, CALCIUM OXALATE UROLITHIASIS, BETHLEM MYOPATHY 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, PLASMA FIBRONECTIN DEFICIENCY, IMMUNODEFICIENCY 43, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, ALPORT SYNDROME, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY

COL6A2, MMP2, BMP1, MYC, COL4A1, PLEC, ITGB4, NUP93, COL5A2, CCND1, COL11A1, CIITA, COL4A4, BMP2, COL3A1, COL6A1, FN1, TP53, B2M, ITGA6, COL4A3, PTH, NR0B1, COL4A5, COL1A1, CD44, IL6, PIK3CA, COL5A1, COL1A2, LRP2, STAT3, COL2A1, COL6A3, INS, TUFM

WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, FACTOR V DEFICIENCY, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY, VON WILLEBRAND DISEASE, TYPE 1, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), PLASMA FIBRONECTIN DEFICIENCY, FLETCHER FACTOR (PREKALLIKREIN) DEFICIENCY, FACTOR XIIIB 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, VON WILLEBRAND DISEASE, PLATELET-TYPE, FACTOR XIIIA DEFICIENCY, HEMOPHILIA A, HEMOPHILIA B, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, TUBEROUS SCLEROSIS 2, ALPHA-2-MACROGLOBULIN DEFICIENCY, FACTOR X DEFICIENCY, FACTOR VII DEFICIENCY, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, IMMUNODEFICIENCY 43, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

SERPIND1, F7, FLNA, F13A1, PROS1, PROC, F5, GP1BA, FGB, F9, GP1BB, KNG1, F13B, F8, PLG, FN1, FGA, B2M, SERPINC1, KLKB1, A2M, F10, FGG, SERPING1, GP9, THBD, SELP, VWF

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, ENHANCED S-CONE SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, ATAXIA-TELANGIECTASIA, BARAITSER-WINTER SYNDROME 1, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, TRIMETHYLAMINURIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, {DEBRISOQUINE SENSITIVITY}, {CODEINE SENSITIVITY}, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, LATHOSTEROLOSIS, CRIGLER-NAJJAR SYNDROME, TYPE I, {THIOPURINES, POOR METABOLISM OF, 1}, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ANDROGEN INSENSITIVITY, {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}, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, 5-OXOPROLINASE DEFICIENCY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, [BILIRUBIN, SERUM LEVEL OF, QTL1], SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, 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, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, GLUCOCORTICOID RESISTANCE, DIAMOND-BLACKFAN ANEMIA 6, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, DYSKERATOSIS CONGENITA, X-LINKED, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, BRUNNER SYNDROME, SHORT SYNDROME, HYPERCALCEMIA, INFANTILE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, NEPHROTIC SYNDROME, TYPE 8, CRIGLER-NAJJAR SYNDROME, TYPE II, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, ?ACAT2 DEFICIENCY, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, HYPOPARATHYROIDISM FAMILIAL ISOLATED, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, FLOATING-HARBOR SYNDROME, BURKITT LYMPHOMA, {HANGOVER, SUSCEPTIBILITY TO}, ALCOHOL SENSITIVITY, ACUTE, ALPHA-METHYLACETOACETIC ACIDURIA, ACHONDROGENESIS IB, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, TUBEROUS SCLEROSIS 2, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, AMINOACYLASE 1 DEFICIENCY, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, GLUTATHIONE SYNTHETASE DEFICIENCY, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, [ACETYLATION, SLOW], [GILBERT SYNDROME], LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, VITAMIN D-DEPENDENT RICKETS, TYPE I, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, CEREBROTENDINOUS XANTHOMATOSIS

FASLG, UGT1A1, CALR, ALDOA, PPARG, SLC26A2, OPLAH, MYC, MTRR, HSD17B10, GCLC, AR, CYP27A1, CBS, MMP2, SRCAP, ATM, AHCY, RPL5, CYP11B2, MTR, CYP2A6, GSS, ACAT1, STAT3, HNF4A, NAT2, NOS3, CYP11B1, NR3C1, AKT1, ALDH2, CYP2R1, TPI1, VDR, CYP27B1, FMO3, CREBBP, MRPL3, NDUFS4, IL6, PTH, IFNG, SC5D, GATA4, CYP17A1, PAPSS2, MAT1A, TPMT, CYP2C9, NDUFS2, ACAT2, ACY1, UGT1A4, INS, EGFR, MAOA, POR, ARHGDIA, ACTB, CYP21A2, TERT, CYP2D6, CYP24A1, DKC1, NR2E3, PIK3R1, ACD, CYP7B1, SLCO1B1, NUBPL, COMT

?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, {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, GLYCOGEN STORAGE DISEASE XI, HYPERPARATHYROIDISM 1, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FUMARASE DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, PARAGANGLIOMAS 3, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PYRUVATE DEHYDROGENASE E2 DEFICIENCY, GREENBERG SKELETAL DYSPLASIA, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, NEUROPATHY, ATAXIA, AND RETINITIS PIGMENTOSA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, LEIOMYOMATOSIS AND RENAL CELL CANCER, ALPHA-KETOGLUTARATE DEHYDROGENASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), D-2-HYDROXYGLUTARIC ACIDURIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ?REYNOLDS SYNDROME, GLUCOCORTICOID DEFICIENCY 4, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4, L-2-HYDROXYGLUTARIC ACIDURIA, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF, PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), ALZHEIMER DISEASE, SUSCEPTIBILITY TO, MITOCHONDRIAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, PSEUDOHYPOALDOSTERONISM, TYPE IIC, PARAGANGLIOMAS 4, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, ERYTHROCYTE LACTATE TRANSPORTER DEFECT, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA 1, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4K, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MYOGLOBINURIA, RECURRENT, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 5, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 16, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, SMITH-LEMLI-OPITZ SYNDROME, ONCOCYTOMA

NDUFS8, NDUFS3, LDHA, NDUFA11, NDUFB3, ETFA, SCO2, NDUFAF6, LBR, SMAD4, ATP5A1, MT-ND6, MT-ND4, DHCR7, SURF1, SDHA, AKT1, PDHA1, NOS3, NDUFS6, NDUFAF2, PDHX, NDUFS2, SLC16A1, NDUFA1, MT-ATP6, HSPD1, ETFB, PPARG, HMGCS2, MT-CO2, D2HGDH, SCO1, WNK1, NDUFS4, NNT, UQCRC2, NDUFV2, SUCLG1, NDUFB9, SDHD, COX20, NDUFS1, NDUFAF4, MT-ND2, LRPPRC, DLAT, COX6B1, MT-ND1, L2HGDH, FH, SDHC, GPD2, AXIN1, TACO1, NDUFAF3, MEN1, UQCRQ, MT-CO3, MT-ND5, MT-ND3, NDUFA2, OGDH, MT-CYB, NDUFA12, NDUFA9, NDUFAF5, MYC, DLD, ATIC, COX8A, PDP1, NDUFV1, MPC1, COX14, SUCLA2, SDHB, DDOST, UQCRB, NDUFA10, INS, ETFDH, NDUFS7, CYC1, MT-CO1

DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOBETALIPOPROTEINEMIA, HYPERALPHALIPOPROTEINEMIA, [HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QTL 10], ALPHA-2-MACROGLOBULIN DEFICIENCY, DONNAI-BARROW SYNDROME, SEA-BLUE HISTIOCYTE DISEASE, OSTEOGENESIS IMPERFECTA, TYPE XIII, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, FISH-EYE DISEASE, TANGIER DISEASE, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, HYPERLIPOPROTEINEMIA, TYPE IB, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, NORUM DISEASE, ALZHEIMER DISEASE-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}

AMN, LRP2, MMP2, ABCA1, BMP1, APOA1, APOE, LCAT, APOB, INS, CUBN, A2M, CETP, APOC2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, COPROPORPHYRIA, HARDEROPORPHYRIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, PORPHYRIA, CONGENITAL ERYTHROPOIETIC, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 16, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, ANEMIA, SIDEROBLASTIC, 1

HMBS, FECH, ALAS2, CPOX, UROD, COX15, PPOX, UROS, HSPD1, ALAD, COX10

3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, ACETYL-COA CARBOXYLASE DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY

ACACA, HLCS, PCCB, MCCC1, PC, MCCC2, PCCA

LYSYL HYDROXYLASE 3 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}, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, SHORT SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], 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, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, COMPLEMENT FACTOR D DEFICIENCY, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, WERNER SYNDROME, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, HYPOPARATHYROIDISM FAMILIAL ISOLATED, OSTEOGENESIS IMPERFECTA, TYPE VIII, PORENCEPHALY 1, ATRANSFERRINEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, ALZHEIMER DISEASE, TYPE 4, OSTEOGENESIS IMPERFECTA, TYPE XVII, IMMUNODEFICIENCY 43, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, PIERSON SYNDROME, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ALPORT SYNDROME, AUTOSOMAL DOMINANT, BECKWITH-WIEDEMANN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, EPIPHYSEAL DYSPLASIA, MULTIPLE, 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 44, COWCHOCK SYNDROME, BRUCK SYNDROME 2, PRIMARY PULMONARY HYPERTENSION, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], HYPOPHOSPHATEMIC RICKETS, AR, BURKITT LYMPHOMA, AMYLOIDOSIS, FINNISH TYPE, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, FIBROCHONDROGENESIS 1, BETHLEM MYOPATHY 1, TUBEROUS SCLEROSIS 2, FACTOR X DEFICIENCY, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, MYOPATHY, MYOFIBRILLAR, 5, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, 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, PAPILLORENAL SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, POLYCYTHEMIA VERA, SOMATIC, CAFFEY DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, ALPORT SYNDROME, ALPHA-2-MACROGLOBULIN DEFICIENCY, CEREBRAL AMYLOID ANGIOPATHY, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ?MYOSCLEROSIS, CONGENITAL, ALAGILLE SYNDROME, KNIEST DYSPLASIA, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, THYROTROPIN-RELEASING HORMONE DEFICIENCY, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, OSTEOGENESIS IMPERFECTA, TYPE XIII, {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, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, PLASMA FIBRONECTIN DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, IMAGE SYNDROME, TRYPSINOGEN DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, LEUKOCYTE ADHESION DEFICIENCY, ALEXANDER DISEASE, GELEOPHYSIC DYSPLASIA 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MYOPATHY, MYOFIBRILLAR, 2, FLETCHER FACTOR (PREKALLIKREIN) DEFICIENCY, GLANZMANN THROMBASTHENIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, EHLERS-DANLOS SYNDROME, TYPE VI, ACROMICRIC DYSPLASIA, HYPOBETALIPOPROTEINEMIA, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEPHROTIC SYNDROME, TYPE 12, AGAMMAGLOBULINEMIA 3, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {AUTISM SUSCEPTIBILITY, X-LINKED 1}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, CEROID LIPOFUSCINOSIS, NEURONAL, 11, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ALPHA-2-PLASMIN INHIBITOR DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

KLKB1, APOB, MYC, GRN, CIITA, NUP93, BMPR1A, AGT, GFAP, COL5A1, ITGA2B, CTNNB1, FGA, B2M, COL9A3, ITGA3, COL4A5, LAMB2, COL1A1, DNM2, PIK3CA, NOTCH1, JAG1, FGG, TNXB, SMAD4, CAPN3, P3H1, COL2A1, PTEN, AIFM1, PRSS2, PLEC, PLAU, AR, WRN, CD79A, FGB, NOS3, IL6, DAG1, COL6A1, PLOD3, CST3, PSEN1, GFPT1, NR0B1, PLOD1, LYZ, CCND1, PTH, FASLG, IFNG, FBN2, SPARC, CD44, STAT3, BRAF, INS, DMD, BMPR2, COL3A1, TTR, TF, ITGB3, BMP1, IGF1, NLGN3, COL4A4, VWF, PAX2, PSEN2, CTSD, VHL, COL4A1, BMP2, LTBP2, ITGB2, FN1, MMP2, IGF1R, AHSG, TP53, EGFR, FBN1, MAPK8IP1, A2M, CDH1, CDKN1C, PRSS1, GSN, STAT2, ITGA6, COL6A3, SELP, COL6A2, FLNA, SGCA, KNG1, LAMA2, AKT1, TGFB1, PTPN11, COL11A1, ITGB4, COL5A2, PLG, DNMT1, COL4A3, CRYAB, PLOD2, TRH, FLNC, TUFM, F10, COL1A2, LRP2, ITGA7, CALR, SERPINF2, MYH11, CFD, KDR, JAK2, HFE, DMP1, PIK3R1

{MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMMUNODEFICIENCY 43, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}

INS, B2M, HLA-B, HLA-DRB1

RABSON-MENDENHALL SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 4, TRYPSINOGEN DEFICIENCY, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, {MELANOMA, CUTANEOUS MALIGNANT, 2}, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MENKES DISEASE, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, FOLATE MALABSORPTION, HEREDITARY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, VON WILLIBRAND DISEASE, TYPE 3, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, PROPIONICACIDEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, METHEMOGLOBINEMIA, TYPE IV, TRANSCOBALAMIN II DEFICIENCY, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, DONNAI-BARROW SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 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}, PYRUVATE CARBOXYLASE DEFICIENCY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, OCCIPITAL HORN SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, SMITH-KINGSMORE 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}, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MOLYBDENUM COFACTOR DEFICIENCY A, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ACETYL-COA CARBOXYLASE DEFICIENCY, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, PERRAULT SYNDROME 5, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MOLYBDENUM COFACTOR DEFICIENCY B, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, HARP SYNDROME, HYPOPHOSPHATASIA, CHILDHOOD, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, MYOPATHY, DISTAL, TATEYAMA TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, BIOTINIDASE DEFICIENCY, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, VON WILLEBRAND DISEASE, TYPE 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

AMN, TUFM, CAV3, HLCS, OAT, APOA1, ACACA, MMAB, SLC46A1, MTRR, MTHFD1, VWF, MOCS2, MAPT, CDKN2A, ATP7A, ENPP1, CBS, PCCB, CYB5A, MTHFR, GIF, INSR, ABCA1, BTD, MMAA, MTOR, MOCS1, TPK1, MCCC2, NDUFS1, SLC19A2, MTPAP, LMBRD1, MMADHC, MUT, TP53, LRP2, ALPL, TCN2, MMACHC, HSPD1, DHFR, PNPO, PCCA, MCCC1, ABCD4, MTR, CUBN, CYB5R3, SLC2A1, ABCD3, PANK2, C10orf2, PC, PRSS1, HMGCS2

L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, HYPER-IGE RECURRENT INFECTION SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), BARTTER SYNDROME, TYPE 2, {THIOPURINES, POOR METABOLISM OF, 1}, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DIAMOND-BLACKFAN ANEMIA 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, IMMUNODEFICIENCY, COMMON VARIABLE, 6, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SPECIFIC GRANULE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPOPARATHYROIDISM FAMILIAL ISOLATED, KOWARSKI SYNDROME, HEMOCHROMATOSIS TYPE 1, ALPHA-METHYLACETOACETIC ACIDURIA, ?PROGESTERONE RESISTANCE, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, DEMENTIA, FAMILIAL DANISH, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, ATAXIA-TELANGIECTASIA-LIKE DISORDER, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, VAN BUCHEM DISEASE, TYPE 2, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, BECKWITH-WIEDEMANN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, VON WILLEBRAND DISEASE, TYPE 1, RIPPLING MUSCLE DISEASE, C3 DEFICIENCY, 5-OXOPROLINASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, [BILIRUBIN, SERUM LEVEL OF, QTL1], IMMUNODEFICIENCY, COMMON VARIABLE, 10, ATRANSFERRINEMIA, BRUNNER SYNDROME, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, 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, 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, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TIMOTHY SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, MUCOPOLYSACCHARIDOSIS VII, AGAMMAGLOBULINEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, MODY, TYPE III, {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, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, [GILBERT SYNDROME], 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, TRIMETHYLAMINURIA, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, LIPOPROTEIN LIPASE DEFICIENCY, IMAGE SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, PSEUDOHYPOALDOSTERONISM, TYPE IIC, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SED, MAROTEAUX TYPE, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, GLANZMANN THROMBASTHENIA, HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, LEUKEMIA, CHRONIC MYELOID, SOMATIC, ADRENOCORTICOTROPIC HORMONE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, DYSAUTONOMIA, FAMILIAL, OSTEOLYSIS, FAMILIAL EXPANSILE, UV-SENSITIVE SYNDROME 1, XERODERMA PIGMENTOSUM, GROUP B, MUCOPOLYSACCHARIDOSIS IVA, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, PHENYLKETONURIA, [HYPERPHENYLALANINEMIA, NON-PKU MILD], BARAITSER-WINTER SYNDROME 1, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, GLYCOGEN STORAGE DISEASE VI, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DIAMOND-BLACKFAN ANEMIA 13, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, 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, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, AMINOACYLASE 1 DEFICIENCY, MUCOPOLYSACCHARIDOSIS IS, PROPIONICACIDEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, NEPHROTIC SYNDROME, TYPE 11, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, ACUTE MYELOID LEUKEMIA, M6 TYPE, CEREBROTENDINOUS XANTHOMATOSIS, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, 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}, CUTIS LAXA, AUTOSOMAL DOMINANT 3, DIAMOND-BLACKFAN ANEMIA 8, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, GLYCINE ENCEPHALOPATHY, ALZHEIMER DISEASE-2, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, GALACTOKINASE DEFICIENCY WITH CATARACTS, PSEUDOHYPOALDOSTERONISM, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ACETYL-COA CARBOXYLASE DEFICIENCY, SEBASTIAN SYNDROME, AMYLOIDOSIS, FINNISH TYPE, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY, ACHONDROGENESIS IB, MUCOPOLYSACCHARIDOSIS IH, RABSON-MENDENHALL SYNDROME, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SEGAWA SYNDROME, RECESSIVE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MEDNIK SYNDROME, HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY, LACTASE DEFICIENCY, CONGENITAL, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CRIGLER-NAJJAR SYNDROME, TYPE I, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, FRUCTOSE INTOLERANCE, LACTASE PERSISTENCE/NONPERSISTENCE, COMMON VARIABLE IMMUNODEFICIENCY 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, ALAGILLE SYNDROME, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, ?MUCOPOLYSACCHARIDOSIS TYPE IX, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ?DIAMOND-BLACKFAN ANEMIA 12, 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}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GLYCOGEN STORAGE DISEASE VII, BIOTINIDASE DEFICIENCY, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MACROGLOBULINEMIA, WALDENSTROM, SOMATIC, ICHTHYOSIS, X-LINKED, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, GLUTATHIONE SYNTHETASE DEFICIENCY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, GELEOPHYSIC DYSPLASIA 2, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, PYRUVATE CARBOXYLASE DEFICIENCY, GALLBLADDER DISEASE 1, DIABETES INSIPIDUS, NEPHROGENIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, HYPOBETALIPOPROTEINEMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CRIGLER-NAJJAR SYNDROME, TYPE II, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, METHYLMALONIC ACIDURIA, MUT(0) TYPE, SEA-BLUE HISTIOCYTE DISEASE, CEROID LIPOFUSCINOSIS, NEURONAL, 11, XERODERMA PIGMENTOSUM, GROUP D, CEROID LIPOFUSCINOSIS, NEURONAL, 10, 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, CALCIUM OXALATE UROLITHIASIS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 5, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, COCKAYNE SYNDROME, TYPE B, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, TRANSCOBALAMIN II DEFICIENCY, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, FECHTNER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, {HASHIMOTO THYROIDITIS}, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, IMMUNODEFICIENCY 43, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, HARTSFIELD SYNDROME, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, FANCONI ANEMIA, COMPLEMENTATION GROUP A, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, CEREBROOCULOFACIOSKELETAL SYNDROME 3, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, SPLENIC HYPOPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, GALACTOSEMIA, DIAMOND-BLACKFAN ANEMIA 6, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, 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, FANCONI RENOTUBULAR SYNDROME 2, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, EHLERS-DANLOS SYNDROME, TYPE IV, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, 46XY SEX REVERSAL 2, DOSAGE-SENSITIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, PAPILLORENAL SYNDROME, 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, VITAMIN D-DEPENDENT RICKETS, TYPE I, BANNAYAN-RILEY-RUVALCABA SYNDROME, CARDIAC VALVULAR DYSPLASIA, X-LINKED, GLYCOGEN STORAGE DISEASE 0, LIVER, METHYLMALONIC ACIDURIA CBLB TYPE, HYPERBILIRUBINEMIA, FAMILIAL TRANSIENT NEONATAL, SMALL CELL CANCER OF THE LUNG, SOMATIC, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, WISKOTT-ALDRICH SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, [FRUCTOSURIA], PLASMA FIBRONECTIN DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIB, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, [PREMATURE CHROMATID SEPARATION TRAIT], TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COLORBLINDNESS, TRITAN, MYOPATHY, DISTAL, 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 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, HEMOLYTIC ANEMIA DUE TO GLUTATHIONE SYNTHETASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, ACROMICRIC DYSPLASIA, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ADRENAL HYPOPLASIA, CONGENITAL, WITH HYPOGONADOTROPIC HYPOGONADISM, ?46XY SEX REVERSAL 5, 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}, C4A DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, HYPERPARATHYROIDISM 1, MULTIPLE SULFATASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, SHORT SYNDROME, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, POLYCYTHEMIA VERA, SOMATIC, GLUCOCORTICOID RESISTANCE, ATELEIOTIC DWARFISM, INTERSTITIAL LUNG AND LIVER DISEASE, HYPERCALCEMIA, INFANTILE, DIAMOND-BLACKFAN ANEMIA 3, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RUBINSTEIN-TAYBI SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, NOONAN SYNDROME 4, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, HYPERFERRITINEMIA-CATARACT SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, COWCHOCK SYNDROME, MUCOPOLYSACCHARIDOSIS II, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, MULTIPLE ENDOCRINE NEOPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, MACULAR CORNEAL DYSTROPHY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, CAFFEY DISEASE, 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, GAPO SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, KNIEST DYSPLASIA, LYMPHOPROLIFERATIVE SYNDROME 1, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LATHOSTEROLOSIS, PERRAULT SYNDROME 5, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, 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, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, GLYCOGEN STORAGE DISEASE XI, ANDROGEN INSENSITIVITY, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, ALEXANDER DISEASE, DIAMOND-BLACKFAN ANEMIA 1, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), PAGET DISEASE OF BONE 3, GM1-GANGLIOSIDOSIS, TYPE III, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, NEPHROTIC SYNDROME, TYPE 12, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, LIPOID ADRENAL HYPERPLASIA, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MYOGLOBINURIA, RECURRENT, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, 17,20-LYASE DEFICIENCY, ISOLATED, 17-ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, 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, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, SMITH-KINGSMORE SYNDROME, NONAKA MYOPATHY

APOE, HBB, TSC2, GNAS, CIITA, COL3A1, RPL5, FTL, GUSB, GSS, VMA21, B2M, GALK1, AKT2, RANBP2, DPM2, ERCC6, DNM2, WNK1, POR, CREBBP, RPS24, PTEN, FGFR3, KL, APOA1, SLC9A3R1, AR, IDS, CYP27A1, THRA, DAG1, BUB1B, MTOR, CST3, HMGA1, MGAT2, BTD, NR0B1, MRE11A, AIFM1, KCNJ1, JAK2, ATP6V1B1, AAAS, MAT1A, SGSH, CNTN5, HSPD1, MT-CYB, RPS10, CYP21A2, CHST6, CAV3, BANF1, MEN1, AGL, CTNNB1, NRAS, SMAD4, IGHM, PSEN2, CTSD, ALG3, GLDC, MMACHC, AXIN1, SETD1A, ABCB4, FANCA, GNE, MMAA, XRCC4, KNG1, LRP5, GIF, PCBD1, HGSNAT, PIGA, PTPN11, LPL, GATA4, NHLRC1, PCCA, MMADHC, STAR, B4GALT1, BDNF, B4GALT7, LRP2, SARS2, TF, NR3C1, EPM2A, GH1, NDUFS2, UGT1A1, PEX14, CYBA, APOB, MYC, MT-CO2, ACTB, GRN, COL1A2, PCCB, ACY1, MCCC2, IDUA, FGA, IL4R, GALNS, CYP11B1, CDC73, USP8, GNAI2, MAOA, SLC26A2, ALDOB, PLAU, CYP7B1, MPI, PYGL, NOTCH1, ERCC3, GNS, FGFR1, SCARB2, RPS29, CYP27B1, PTH, PTH1R, VPS33B, TCIRG1, CBS, SI, STS, RB1, FGF23, STAT3, CUBN, MC4R, AMN, NCF1, CALR, LYZ, MMAB, IGF1, SMAD9, NEUROD1, SC5D, GMPPB, NFKB2, BMP2, VDR, DRD3, PARK2, ETFA, EGFR, WNK4, HK1, OPN1SW, ANTXR1, ITGA6, KIT, BCR, CYBB, PTS, MTRR, RFT1, TGFB1, IGF1R, MTR, CACNA1C, MUT, SLC2A4, TP53, GYS2, ACTN4, IL6, ITM2B, CEBPE, CTLA4, EPOR, ALDH18A1, FCGR2A, C10orf2, GCLC, GCGR, SLC34A1, PHEX, LCT, GAA, FAS, SQSTM1, TBX19, CTSA, AP2S1, CYP11B2, AGT, PMM2, ALG11, CDH1, MCM6, MTPAP, ALG1, ARSB, RPL15, TH, PIK3CA, UGT1A4, JAG1, HNRNPA1, ABCA1, COL2A1, NUBPL, ACTA1, LIG4, QDPR, ABCB11, PGM1, PGK1, NOS3, CCND1, SCNN1A, MOGS, PSEN1, GALT, GFPT1, ICOS, PSMB8, PNPT1, MET, RPS17, CD44, C3, ERCC5, TNFRSF1A, SPRY2, TSHR, ALG6, PAPSS2, WAS, INS, GFAP, PFKM, ITGB3, PPARG, SDHD, PAX2, STAT1, VHL, HNF4A, ITGB2, FN1, ACACA, FBN1, PHGDH, TPMT, RPSA, POLD1, MCCC1, HNF1A, RPS19, RPS7, TRPV4, ABCD3, GSN, CFTR, RBP4, NDUFS3, IRS1, DPM1, BCL10, SDHA, MYH9, ABCB6, SOS1, TNFRSF11A, CBX2, NAGLU, TCN2, HRAS, KHK, IRS2, OCLN, TINF2, CYP17A1, TUFM, ALG13, GATA1, MARS2, HLCS, OPLAH, COL1A1, FMO3, SRD5A3, MYD88, TAP1, GLB1, ACAT1, CD19, HIBCH, BTK, ING1, NEU1, ALG2, ERCC2, ATP6V0A2, MITF, CYP2R1, CHD7, KRAS, TCF7L2, PGR, IKBKAP, MRPL44, IFNG, C4A, AVPR2, NCF2, AP1S1, CD81, NUP107, MAX, ITK, CYP24A1, GLUD1, TTR, FLNC, GJA1, LDHA, VWF, MC2R, CASR, APC, FOXP3, MMP2, GALE, NDUFS1, MRPL3, VCP, LDLR, SEC63, FASLG, SLC25A4, NUP93, AKT1, CDKN1C, DDOST, TPI1, LMBRD1, PAH, SUMF1, FLNA, RPL35A, ATM, LRPPRC, PRKACA, INSR, HYAL1, MARS, RPL11, ATP5A1, DPAGT1, HFE, POLR2F, DOLK, MPDU1, SELP, STX16, AHCY, KDR, PC, PIK3R1

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, MULTIPLE SULFATASE DEFICIENCY, GLYCOGEN STORAGE DISEASE VI, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, 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, GLUCOCORTICOID RESISTANCE, INTERSTITIAL LUNG AND LIVER DISEASE, ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER, LACTASE DEFICIENCY, CONGENITAL, MUCOPOLYSACCHARIDOSIS IS, {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}, BRACHYOLMIA 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES, MEDULLARY CYSTIC KIDNEY DISEASE 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, NEPHROTIC SYNDROME, TYPE 11, NESTOR-GUILLERMO PROGERIA SYNDROME, HARTSFIELD SYNDROME, MODY, TYPE II, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, GALACTOKINASE DEFICIENCY WITH CATARACTS, PYRUVATE KINASE DEFICIENCY, MUSCLE GLYCOGENOSIS, DIAMOND-BLACKFAN ANEMIA 6, FANCONI-BICKEL SYNDROME, ?RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS II, GLUCOSE/GALACTOSE MALABSORPTION, CITRULLINEMIA, ADULT-ONSET TYPE II, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, BURKITT LYMPHOMA, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), ACHONDROGENESIS IB, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, TUBEROUS SCLEROSIS 2, RABSON-MENDENHALL SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MACULAR CORNEAL DYSTROPHY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, CAFFEY DISEASE, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, GALACTOSE EPIMERASE DEFICIENCY, ARTS SYNDROME, GLYCOGEN STORAGE DISEASE II, ATAXIA-TELANGIECTASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, FRUCTOSE INTOLERANCE, GLYCOGEN STORAGE DISEASE IA, GLYCOGEN STORAGE DISEASE IXC, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, GLYCOGEN STORAGE DISEASE 0, LIVER, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 8, KNIEST DYSPLASIA, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY, GOUT, PRPS-RELATED, MUCOPOLYSACCHARIDOSIS IH/S, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, PEPCK DEFICIENCY, MITOCHONDRIAL, GLYCOGEN STORAGE DISEASE IC, CALCIUM OXALATE UROLITHIASIS, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY, HEMOCHROMATOSIS TYPE 1, GLYCOGEN STORAGE DISEASE VII, [FRUCTOSURIA], PLASMA FIBRONECTIN DEFICIENCY, GALACTOSEMIA, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, GLYCOGEN STORAGE DISEASE X, POLYGLUCOSAN BODY DISEASE, ADULT FORM, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ANDROGEN INSENSITIVITY, MCARDLE DISEASE, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PYRUVATE CARBOXYLASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS, MPS-III-A, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, PHOSPHOGLYCERATE KINASE 1 DEFICIENCY, HYPOBETALIPOPROTEINEMIA, NEPHROTIC SYNDROME, TYPE 12, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES, HYPOMYELINATION, GLOBAL CEREBRAL, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, CEROID LIPOFUSCINOSIS, NEURONAL, 11, ?GLYCOGEN STORAGE DISEASE XIII, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, SMITH-KINGSMORE SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MUCOPOLYSACCHARIDOSIS IVA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

NEU1, CAV1, GPI, APOB, NCF1, MYC, PRKACA, PGAM2, PGK1, HEXB, RPL5, ALDOA, GUSB, GALNS, PCK2, BTK, LCT, IDUA, GALK1, PLG, RANBP2, ARSB, FBP1, COL1A1, MARS2, G6PC, NOTCH1, SMAD4, COL2A1, RPIA, PHKB, SDHD, SLC26A2, ALDOB, EGFR, PHKA2, AR, PGM1, IDS, GRN, HYAL1, DAG1, MTOR, FGFR1, NOS3, HEXA, GALT, GAA, IFNG, TAP1, SLC25A13, SGSH, CNTN5, NUP107, SI, AAAS, BRAF, INS, GCK, CHST6, CAV3, BANF1, PFKM, GLB1, AGL, SLC2A2, PRPS1, IGF1, ENO3, GNS, PAPSS2, PCK1, PYGM, BMP2, AKT1, GBE1, TPI1, SLC25A1, NAGLU, SLC5A1, FASLG, NUP93, FN1, SLC37A4, HK1, GALE, HGSNAT, SUMF1, ATP6V1B1, SLC2A1, NR3C1, PHKG2, PYGL, ATM, GATA4, MUC1, VCP, TGFB1, NHLRC1, CD44, INSR, PKLR, SLC2A4, SOS1, LIPE, GYS2, IL6, MARS, B4GALT1, ZMPSTE24, B4GALT7, PHKA1, KHK, LRP2, DRD3, SLC25A12, B4GAT1, EPM2A, PC, CORO1A

ERYTHROCYTOSIS, FAMILIAL, 2, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, LEUKODYSTROPHY, HYPOMYELINATING, 4, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HYPERMETHIONINEMIA, PERSISTENT, AUTOSOMAL DOMINANT, DUE TO METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, ETHYLMALONIC ENCEPHALOPATHY, DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, LACTASE PERSISTENCE/NONPERSISTENCE, HEMOLYTIC ANEMIA DUE TO GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, SULFITE OXIDASE DEFICIENCY, GLYCINE ENCEPHALOPATHY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, CYSTATHIONINURIA

SUOX, CTH, MTR, HSPD1, ETHE1, VHL, GLDC, AHCY, MAT1A, GCLC, MTAP, CBS, MTRR, MCM6

IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, IMMUNODEFICIENCY 43, 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, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, DIAMOND-BLACKFAN ANEMIA 6, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, ATRANSFERRINEMIA, HEINZ BODY ANEMIA, HEINZ BODY ANEMIAS, BETA-, HEINZ BODY ANEMIAS, ALPHA-, HYPOBETALIPOPROTEINEMIA, AICARDI-GOUTIERES SYNDROME 6, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?PROGESTERONE RESISTANCE, TUBEROUS SCLEROSIS 2, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

NCF1, RPL5, TF, CYBA, CYBB, CHEK2, ADAR, HBA1, CIITA, PTPN11, TAP1, HLA-DRB1, HLA-B, PGR, AKT1, APOB, TAPBP, CALR, B2M, PSMB8, TAP2, TP53, STAT1, NCF2, SPRY2, IFNG, ITGA6, INS

BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, HYPOBETALIPOPROTEINEMIA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AICARDI-GOUTIERES SYNDROME 6, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 43, DIAMOND-BLACKFAN ANEMIA 6, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B

TAP1, RPL5, SPRY2, CALR, APOB, STAT1, B2M, ADAR, HLA-B, TAP2, PSMB8, CIITA, TAPBP

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, {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, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CAFFEY DISEASE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, CARBOXYPEPTIDASE N DEFICIENCY, KOWARSKI SYNDROME, LEYDIG CELL ADENOMA, SOMATIC, WITH PRECOCIOUS PUBERTY, PRECOCIOUS PUBERTY, MALE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LEPRECHAUNISM, WAARDENBURG SYNDROME/OCULAR ALBINISM, DIGENIC, WAARDENBURG SYNDROME/ALBINISM, DIGENIC, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, IMINOGLYCINURIA, DIGENIC, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, GLUCOCORTICOID RESISTANCE, GLANZMANN THROMBASTHENIA, ATELEIOTIC DWARFISM, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ATRANSFERRINEMIA, THYROTROPIN-RELEASING HORMONE DEFICIENCY, CEROID LIPOFUSCINOSIS, NEURONAL, 10, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, MODY, TYPE III, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MASP2 DEFICIENCY, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HARTNUP DISORDER, LEYDIG CELL HYPOPLASIA WITH PSEUDOHERMAPHRODITISM, LUTEINIZING HORMONE RESISTANCE, FEMALE, LEYDIG CELL HYPOPLASIA WITH HYPERGONADOTROPIC HYPOGONADISM, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, RABSON-MENDENHALL SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, C4A DEFICIENCY, PLASMA FIBRONECTIN DEFICIENCY, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SEGAWA SYNDROME, RECESSIVE, SMITH-KINGSMORE SYNDROME, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPERGLYCINURIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1

SSR4, PRSS2, KNG1, ITGB3, GH1, CTNNB1, TH, RETN, PTEN, CPN1, PLA2G7, COL1A1, TGFB1, NOS3, INSR, GATA4, IL6, AGT, APC, CTSD, MOGS, BMP2, BMPR1A, AKT2, FN1, TP53, PCSK1, LHCGR, KDR, CCND1, C4A, JAK2, SLC30A8, MASP2, TRH, MYC, TF, HSPD1, AKT1, HNF1A, TSHB, TSHR, MITF, MYH11, IGF1, NR3C1, SELP, MAFB, PTPN11, INS, SLC6A19, MTOR, TCF7L2

HYPERCALCEMIA, INFANTILE, VITAMIN D-DEPENDENT RICKETS, TYPE I, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, DONNAI-BARROW SYNDROME, HYPOPARATHYROIDISM FAMILIAL ISOLATED, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, RICKETS DUE TO DEFECT IN VITAMIN D 25-HYDROXYLATION, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, TANGIER DISEASE, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS

CYP27B1, LRP2, POR, PTH, APOA1, CYP24A1, IGF1, AKT1, CUBN, CYP2R1

3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PROPIONICACIDEMIA, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, ACETYL-COA CARBOXYLASE DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, BIOTINIDASE DEFICIENCY

ACACA, HLCS, PCCB, MCCC1, BTD, HIBCH, PC, MCCC2, PCCA

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, {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}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IID, CAFFEY DISEASE, BURKITT LYMPHOMA, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, POLYCYSTIC LIVER DISEASE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NESTOR-GUILLERMO PROGERIA SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, SIALIC ACID STORAGE DISORDER, INFANTILE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GM1-GANGLIOSIDOSIS, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, DIAMOND-BLACKFAN ANEMIA 6, BARAITSER-WINTER SYNDROME 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, GM1-GANGLIOSIDOSIS, TYPE III, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, SALLA DISEASE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CHYLOMICRON RETENTION DISEASE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MEDULLARY CYSTIC KIDNEY DISEASE 1, IMMUNODEFICIENCY 23, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, AGAMMAGLOBULINEMIA, X-LINKED 1, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, COMBINED FACTOR V AND VIII DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, NONAKA MYOPATHY

PIGA, BANF1, NEU1, CAV1, MOGS, MYC, SMAD4, NOTCH1, DPM1, MPI, PRKCSH, TGFB1, RFT1, NOS3, RPL5, MUC1, SLC35A1, GLB1, PMM2, ACTB, MGAT2, ALG3, ALG11, CTSA, DDOST, CDH1, GFPT1, B4GALT1, STT3A, SLC17A5, IL6, MET, FASLG, ALG1, DPM2, PGM3, GMPPA, COL1A1, CALR, GMPPB, ALG2, HRAS, COL1A2, DOLK, MPDU1, GNE, ALG13, ALG6, LMAN1, DPAGT1, BTK, KDR, INS, SRD5A3, SAR1B

COENZYME Q10 DEFICIENCY, PRIMARY, 7, GLOMUVENOUS MALFORMATIONS, LEUKODYSTROPHY, HYPOMYELINATING, 4, COENZYME Q10 DEFICIENCY, PRIMARY, 3, COENZYME Q10 DEFICIENCY, PRIMARY, 6, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, COENZYME Q10 DEFICIENCY, PRIMARY, 2

COQ6, GLMN, PDSS2, COQ4, PDSS1, COQ2, COQ7, HSPD1

SHORT SYNDROME, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, IMMUNODEFICIENCY 43, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, OVARIAN CARCINOMA, SOMATIC, OVARIAN CANCER, SOMATIC, ADENOCARCINOMA, OVARIAN, SOMATIC, {OVARIAN CANCER, SOMATIC}, OVARIAN CARCINOMA, BANNAYAN-RILEY-RUVALCABA SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, GLUCOCORTICOID RESISTANCE, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, PERIODIC FEVER, FAMILIAL, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

IRS2, B2M, PIK3R1, PTEN, HLA-DRB1, NR3C1, HLA-DQB1, PTPN11, HLA-DQA1, PIK3CA, BCL10, AKT1, TNFRSF1A

{MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 43, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, {CELIAC DISEASE, SUSCEPTIBILITY TO}

HLA-DQB1, B2M, HLA-DRB1, HLA-DQA1

RABSON-MENDENHALL SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 4, TRYPSINOGEN DEFICIENCY, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HMG-COA SYNTHASE-2 DEFICIENCY, {MELANOMA, CUTANEOUS MALIGNANT, 2}, CREATINE PHOSPHOKINASE, ELEVATED SERUM, MENKES DISEASE, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, FOLATE MALABSORPTION, HEREDITARY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY, VON WILLIBRAND DISEASE, TYPE 3, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLF TYPE, PROPIONICACIDEMIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, METHEMOGLOBINEMIA, TYPE IV, TRANSCOBALAMIN II DEFICIENCY, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, DONNAI-BARROW SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 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}, PYRUVATE CARBOXYLASE DEFICIENCY, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLD TYPE, HOMOCYSTINURIA, CBLD TYPE, VARIANT 1, METHYLMALONIC ACIDURIA, CBLD TYPE, VARIANT 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, {NEURAL TUBE DEFECTS, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO}, {NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO}, BULL'S EYE MACULOPATHY METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, OCCIPITAL HORN SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBL E TYPE, ATAXIA, SPASTIC, 4, AUTOSOMAL RECESSIVE, SMITH-KINGSMORE 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}, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, MOLYBDENUM COFACTOR DEFICIENCY A, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, ACETYL-COA CARBOXYLASE DEFICIENCY, TANGIER DISEASE, INTRINSIC FACTOR DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, PERRAULT SYNDROME 5, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, CBLG COMPLEMENTATION TYPE, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, MOLYBDENUM COFACTOR DEFICIENCY B, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, GYRATE ATROPHY OF CHOROID AND RETINA WITH OR WITHOUT ORNITHINEMIA, HARP SYNDROME, HYPOPHOSPHATASIA, CHILDHOOD, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, MYOPATHY, DISTAL, TATEYAMA TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, BIOTINIDASE DEFICIENCY, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, VON WILLEBRAND DISEASE, TYPE 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

AMN, TUFM, CAV3, HLCS, OAT, APOA1, ACACA, MMAB, SLC46A1, MTRR, MTHFD1, VWF, MOCS2, MAPT, CDKN2A, ATP7A, ENPP1, CBS, PCCB, CYB5A, MTHFR, GIF, INSR, ABCA1, BTD, MMAA, MTOR, MOCS1, TPK1, MCCC2, NDUFS1, SLC19A2, MTPAP, LMBRD1, MMADHC, MUT, TP53, LRP2, ALPL, TCN2, MMACHC, HSPD1, DHFR, PNPO, PCCA, MCCC1, ABCD4, MTR, CUBN, CYB5R3, SLC2A1, ABCD3, PANK2, C10orf2, PC, PRSS1, HMGCS2

{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}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, HYPER-IGE RECURRENT INFECTION SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, SPHEROCYTOSIS, TYPE 4, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, LYSINURIC PROTEIN INTOLERANCE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, ACRODERMATITIS ENTEROPATHICA, FANCONI RENOTUBULAR SYNDROME 2, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, SALLA DISEASE, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SPHEROCYTOSIS, TYPE 1, GLUCOCORTICOID DEFICIENCY 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, CYSTINURIA, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, NEPHROTIC SYNDROME, TYPE 11, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, NESTOR-GUILLERMO PROGERIA SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 3, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, MODY, TYPE II, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LEPRECHAUNISM, RIPPLING MUSCLE DISEASE, HYPOURICEMIA, RENAL, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1, ZINC DEFICIENCY, TRANSIENT NEONATAL, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PARKINSONISM-DYSTONIA, INFANTILE, ANEMIA, HEMOLYTIC, RH-NULL, REGULATOR TYPE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, FANCONI-BICKEL SYNDROME, OCCIPITAL HORN SYNDROME, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, GLUCOSE/GALACTOSE MALABSORPTION, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, [HEREDITARY PERSISTENCE OF ALPHA-FETOPROTEIN], BURKITT LYMPHOMA, ACHONDROGENESIS IB, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, SELECTIVE T-CELL DEFECT, HARTNUP DISORDER, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, MYOPATHY, DISTAL, TATEYAMA TYPE, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, SEGAWA SYNDROME, RECESSIVE, PSEUDOHYPOALDOSTERONISM, TYPE IIC, THYROID DYSHORMONOGENESIS 1, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, PAPILLORENAL SYNDROME, HEREDITARY PYROPOIKILOCYTOSIS, BARTTER SYNDROME, TYPE 1, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, GLYCOGEN STORAGE DISEASE IA, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 2, CRYOHYDROCYTOSIS, HEMOCHROMATOSIS, TYPE 4, MODY, TYPE III, RENAL TUBULAR ACIDOSIS, DISTAL, AR, DUBIN-JOHNSON SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, GLYCOGEN STORAGE DISEASE IC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, CALCIUM OXALATE UROLITHIASIS, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, HYPOURICEMIA, RENAL, 2, {URIC ACID CONCENTRATION, SERUM, QTL 2}, ERYTHROCYTE LACTATE TRANSPORTER DEFECT, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE IIB, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IMINOGLYCINURIA, DIGENIC, RABSON-MENDENHALL SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, DICARBOXYLIC AMINOACIDURIA, MENKES DISEASE, SIALIC ACID STORAGE DISORDER, INFANTILE, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, ALPHA-FETOPROTEIN DEFICIENCY, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, DIABETES INSIPIDUS, NEPHROGENIC, ALEXANDER DISEASE, PEELING SKIN SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, GITELMAN SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, HYPERPROLINEMIA, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, PAGET DISEASE OF BONE 3, LEUKEMIA, CHRONIC MYELOID, SOMATIC, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ?46XY SEX REVERSAL 5, NEPHROTIC SYNDROME, TYPE 12, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), LIPOID ADRENAL HYPERPLASIA, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, HYPERGLYCINURIA, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC

CA2, SLC34A1, SLC5A5, CP, MYC, SQSTM1, WNK4, TAP1, SLC35A1, SLCO1B1, PPARG, SLC6A3, SLC11A2, CDH1, SPTA1, SLC17A5, RANBP2, SLC37A4, TH, G6PC, SLCO2A1, WNK1, SLC30A2, IRS1, SLC9A3, SLC6A19, SLC26A2, SLC39A8, SLC39A4, NOS3, SLC16A1, SLC2A9, LPIN1, MET, PRODH, SLC1A1, GJA1, MAFB, PTH, SLC30A8, MRAP, RHAG, AAAS, CD44, SLC35C1, SLC4A1, NUP107, SLC22A12, SLC7A7, FGF23, STAT3, INS, SLC35A2, GFAP, SLC12A1, CAV3, BANF1, SLCO1B3, SLC2A2, SLC7A9, SLC22A5, CTNS, PAX2, PDCD1, MC2R, GCK, AKT1, CFTR, TP53, LRP2, NUP93, SLC29A3, HNF1A, SLC20A2, HK1, AQP2, SLC9A3R1, ABCC2, BCR, SSR4, SLC2A1, SLC40A1, HCCS, SLC12A6, SLC34A3, PTPN11, PDHX, ATP7A, AVP, FXN, INSR, NOTCH1, SLC2A4, SOS1, SLC5A1, SLC33A1, CBX2, STAR, SLC26A3, BDNF, PEX19, SLC3A1, GDNF, EGFR, ANK1, CDSN, SLC6A20, ZAP70, SLC12A3, SLC36A2, AFP

THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, HEMOPHILIA A, HEMOPHILIA B, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, FACTOR V DEFICIENCY, FACTOR X DEFICIENCY, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, FACTOR VII DEFICIENCY, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT

PROC, F9, PROS1, F8, VKORC1, F7, F5, GGCX, F10

{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}, BURKITT LYMPHOMA, SIALIC ACID STORAGE DISORDER, INFANTILE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GM1-GANGLIOSIDOSIS, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, GM1-GANGLIOSIDOSIS, TYPE III, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SALLA DISEASE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), IMMUNODEFICIENCY 23, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, GALACTOSIALIDOSIS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NONAKA MYOPATHY

PIGA, GLB1, MYC, DPM1, MPI, CTSA, GMPPA, SLC35A1, PMM2, NOS3, GFPT1, SLC17A5, IL6, MET, SRD5A3, DOLK, PGM3, NEU1, GMPPB, FASLG, GNE, DPM2, INS

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}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, BURKITT LYMPHOMA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, SIALIC ACID STORAGE DISORDER, INFANTILE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, GM1-GANGLIOSIDOSIS, TYPE II, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, GM1-GANGLIOSIDOSIS, TYPE III, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, SOMATIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SALLA DISEASE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), IMMUNODEFICIENCY 23, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, NONAKA MYOPATHY

DPM1, GLB1, MYC, PIGA, MPI, RFT1, CTSA, GMPPA, SLC35A1, PMM2, ALG3, ALG11, NOS3, GFPT1, ALG1, SLC17A5, IL6, MET, SRD5A3, NEU1, FASLG, PGM3, DPAGT1, GMPPB, ALG2, DOLK, MPDU1, GNE, ACTB, ALG6, DPM2, INS, ALG13

3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PROPIONICACIDEMIA, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, ACETYL-COA CARBOXYLASE DEFICIENCY, PYRUVATE CARBOXYLASE DEFICIENCY, BIOTINIDASE DEFICIENCY

ACACA, HLCS, PCCB, MCCC1, BTD, HIBCH, PC, MCCC2, PCCA

BARAITSER-WINTER SYNDROME 1, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, LYMPHOPROLIFERATIVE SYNDROME 1, WISKOTT-ALDRICH SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}

HLA-DQB1, B2M, HLA-DQA1, ITK, ZAP70, HLA-DRB1, WAS, ACTB

SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, {CELIAC DISEASE, SUSCEPTIBILITY TO}

HLA-DQB1, B2M, ZAP70, HLA-DRB1, HLA-DQA1

MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), GM1-GANGLIOSIDOSIS, TYPE III, MUCOPOLYSACCHARIDOSIS VII, ?MUCOPOLYSACCHARIDOSIS TYPE IX, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS IS, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS IH/S, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS IVA, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS, MPS-III-A

SGSH, ARSB, NAGLU, GLB1, GNS, GUSB, HYAL1, NEU1, HGSNAT, IDUA, IDS, GALNS

WARFARIN RESISTANCE, {WARFARIN SENSITIVITY}, COUMARIN RESISTANCE, WARFARIN SENSITIVITY, FACTOR V DEFICIENCY, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HEREDITARY FACTOR VIII DEFICIENCY DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, MULTIPLE SULFATASE DEFICIENCY, VON WILLEBRAND DISEASE, TYPE 1, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, VON WILLIBRAND DISEASE, TYPE 3, COMBINED FACTOR V AND VIII DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), HEMOPHILIA A, HEMOPHILIA B, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, BURKITT LYMPHOMA, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, METACHROMATIC LEUKODYSTROPHY, VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1, FACTOR X DEFICIENCY, FACTOR VII DEFICIENCY, PLASMA FIBRONECTIN DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, ICHTHYOSIS, X-LINKED, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

EGFR, GMPPB, F7, RPS19, ARSA, STS, PROC, PROS1, LMAN1, ARSB, F8, VKORC1, STAT3, MYC, F5, F10, FN1, GGCX, SUMF1, VWF, F9

BARAITSER-WINTER SYNDROME 1, ALPHA-FETOPROTEIN DEFICIENCY, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE 2, SUSCEPTIBILITY TO}, DIABETES MELLITUS, TYPE 2, DIABETES MELLITUS, NONINSULIN-DEPENDENT, LATE ONSET, {DIABETES, TYPE 2}, {HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, NON-INSULIN-DEPENDENT, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO}, DIABETES MELLITUS, NONINSULIN-DEPENDENT, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, ASSOCIATION WITH}, DIABETES MELLITUS, TYPE II, {DIABETES MELLITUS, NONINSULIN-DEPENDENT, 2}, {INSULIN RESISTANCE, SUSCEPTIBILITY TO}, {DIABETES, TYPE 2, SUSCEPTIBILITY TO}, {DIABETES, SUSCEPTIBILITY TO}, 222100, {DIABETES MELLITUS, NONINSULIN-DEPENDENT}, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, L-FERRITIN DEFICIENCY, DOMINANT AND RECESSIVE, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, BARTTER SYNDROME, TYPE 2, SPHEROCYTOSIS, TYPE 4, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, DIARRHEA 6, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3, DIABETES INSIPIDUS, NEPHROGENIC, LYSINURIC PROTEIN INTOLERANCE, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA, GLUCOCORTICOID RESISTANCE, NEPHROLITHIASIS, TYPE I, HYPOURICEMIA, RENAL, 2, {URIC ACID CONCENTRATION, SERUM, QTL 2}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1, ACRODERMATITIS ENTEROPATHICA, BARTTER SYNDROME, TYPE 1, HYPERFERRITINEMIA-CATARACT SYNDROME, FANCONI RENOTUBULAR SYNDROME 2, ERYTHROCYTE LACTATE TRANSPORTER DEFECT, {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}, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SPHEROCYTOSIS, TYPE 1, HYPOPHOSPHATASIA, INFANTILE, GLUCOCORTICOID DEFICIENCY 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L, ATRANSFERRINEMIA, SALLA DISEASE, PAGET DISEASE OF BONE 3, MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE, ALZHEIMER DISEASE, TYPE 4, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOHYPERKALEMIA, FAMILIAL, 2, DUE TO RED CELL LEAK, NEPHROTIC SYNDROME, TYPE 11, PSEUDOPSEUDOHYPOPARATHYROIDISM, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL CYSTS AND DIABETES SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, SUPRANUCLEAR PALSY, PROGRESSIVE ATYPICAL, NESTOR-GUILLERMO PROGERIA SYNDROME, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, PSEUDOHYPOPARATHYROIDISM IB, PSEUDOHYPOPARATHYROIDISM, TYPE IB, OCCIPITAL HORN SYNDROME, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, LEPRECHAUNISM, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, RIPPLING MUSCLE DISEASE, PERIODIC FEVER, FAMILIAL, HYPOURICEMIA, RENAL, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CYSTINURIA, ZINC DEFICIENCY, TRANSIENT NEONATAL, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, MICROVILLUS INCLUSION DISEASE, HEMOCHROMATOSIS, TYPE 2B, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, HARTSFIELD SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, PARKINSONISM-DYSTONIA, INFANTILE, ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ANEMIA, HEMOLYTIC, RH-NULL, REGULATOR TYPE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, MYOPATHY, VACUOLAR, WITH CASQ1 AGGREGATES, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, FANCONI-BICKEL SYNDROME, OSTEOPETROSIS, AUTOSOMAL DOMINANT 2, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3, WITH RENAL TUBULAR ACIDOSIS, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, GLUCOSE/GALACTOSE MALABSORPTION, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PSEUDOHYPOALDOSTERONISM, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5, [HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY], [KININOGEN DEFICIENCY], CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, [HEREDITARY PERSISTENCE OF ALPHA-FETOPROTEIN], BURKITT LYMPHOMA, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, ACHONDROGENESIS IB, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, HARTNUP DISORDER, HYPERGLYCINURIA, ATRIOVENTRICULAR SEPTAL DEFECT 3, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SEGAWA SYNDROME, RECESSIVE, MUCOLIPIDOSIS IV, 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, DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, PAPILLORENAL SYNDROME, PRIMARY PULMONARY HYPERTENSION, HEREDITARY PYROPOIKILOCYTOSIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, GLUT1 DEFICIENCY SYNDROME 2, CHILDHOOD ONSET, CEROID LIPOFUSCINOSIS, NEURONAL, 4, PARRY TYPE, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, [URIC ACID CONCENTRATION, SERUM, QTL1], TIMOTHY SYNDROME, SCOTT SYNDROME, NOONAN SYNDROME 4, CREATINE PHOSPHOKINASE, ELEVATED SERUM, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MICROCORNEA, ROD-CONE DYSTROPHY, CATARACT, AND POSTERIOR STAPHYLOMA, VITREORETINOCHOROIDOPATHY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, ALZHEIMER DISEASE-2, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE IA, {MELANOMA, CUTANEOUS MALIGNANT, 2}, HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, MODY, TYPE II, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 2, CRYOHYDROCYTOSIS, SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION, BARTTER SYNDROME, TYPE 4A, DIABETES MELLITUS, TRANSIENT NEONATAL, 3, MODY, TYPE III, RENAL TUBULAR ACIDOSIS, DISTAL, AR, CARPAL TUNNEL SYNDROME, FAMILIAL, TANGIER DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, GLYCOGEN STORAGE DISEASE IC, CALCIUM OXALATE UROLITHIASIS, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, SELECTIVE T-CELL DEFECT, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, BARTTER SYNDROME, TYPE 4B, DIGENIC, HEMOCHROMATOSIS TYPE 1, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, HYPOMAGNESEMIA 1, INTESTINAL, GLYCOGEN STORAGE DISEASE VII, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1, DUBIN-JOHNSON SYNDROME, LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, RENAL TUBULAR ACIDOSIS, DISTAL, AD, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, PSEUDOHYPOALDOSTERONISM, TYPE IIB, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPAHTY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL PEROXISOMAL FISSION, ?N SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IMINOGLYCINURIA, DIGENIC, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, NAIL-PATELLA SYNDROME, GLYCOGEN STORAGE DISEASE XI, PSEUDOHYPOPARATHYROIDISM IA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, POLYCYSTIC LIVER DISEASE, DICARBOXYLIC AMINOACIDURIA, PSEUDOHYPOALDOSTERONISM, TYPE IIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, MENKES DISEASE, [URIC ACID CONCENTRATION, SERUM, QTL4], {GOUT SUSCEPTIBILITY 4}, LIDDLE SYNDROME, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, FOLATE MALABSORPTION, HEREDITARY, DIABETES INSIPIDUS, NEPHROGENIC, ALEXANDER DISEASE, PEELING SKIN SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, SED, MAROTEAUX TYPE, HEMOCHROMATOSIS, TYPE 4, BARTTER SYNDROME, TYPE 3, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, HYPOPHOSPHATASIA, CHILDHOOD, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, SIALIC ACID STORAGE DISORDER, INFANTILE, GITELMAN SYNDROME, SHORT SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, HYPERPROLINEMIA, TYPE I, NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1, GLUCOCORTICOID DEFICIENCY, DUE TO ACTH UNRESPONSIVENESS, LEUKEMIA, CHRONIC MYELOID, SOMATIC, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, HYPOBETALIPOPROTEINEMIA, ANEMIA, SIDEROBLASTIC, WITH ATAXIA, WILSON DISEASE, HYPOPHOSPHATEMIC RICKETS, ?46XY SEX REVERSAL 5, NEPHROTIC SYNDROME, TYPE 12, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIN, SITOSTEROLEMIA, DENT DISEASE, LIPOID ADRENAL HYPERPLASIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, WRINKLY SKIN SYNDROME, {AUTISM SUSCEPTIBILITY, X-LINKED 3}, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, SEA-BLUE HISTIOCYTE DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, BRODY MYOPATHY, PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIC NEPHROCALCINOSIS, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, {SCHIZOPHRENIA, SUSCEPTIBILITY TO, 4}, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE IC, CEROID LIPOFUSCINOSIS, NEURONAL, 10, HYPOMAGNESEMIA 2, RENAL, MIYOSHI MUSCULAR DYSTROPHY 3, SMITH-KINGSMORE SYNDROME

CA2, SLC34A1, PEX14, CAV1, APOB, APOE, MYC, ACTB, SLC17A3, BANF1, GNAS, NUP93, CTSA, MAPT, FXN, TAP1, FAS, SLC35A1, KCNJ11, ANO5, SLCO1B1, PPARG, SLC6A3, PRKAR1A, ABCD1, SLC11A2, CDH1, SLC5A1, GJA1, RYR2, FGA, B2M, SLC17A5, CDKN2A, TRPM6, SLCO2A1, CAPN3, SPTA1, TH, HNF1A, G6PC, MAFB, WNK1, SLC30A2, SLC20A2, FGG, IRS1, GNAI2, CREBBP, SLC5A5, CLCN7, LDLR, SLC6A19, ACTA1, LDHA, APOA2, ITPR3, SLC26A2, APOA1, SCNN1G, EGFR, CLCNKA, AKAP10, DNAJC5, GMPPB, SLC34A3, SQSTM1, NOS3, ATP2A1, IL6, SLC2A9, LPIN1, RYR1, FGFR1, SCNN1A, AVP, PTH, PAX2, SLC39A4, GCGR, ABCA1, ZHX2, CALR, PDCD1, GFAP, SLC9A3, KCNJ1, PSEN1, MET, ABCB7, SLC30A8, MRAP, RHAG, AAAS, DNM1L, TCIRG1, SLC35C1, FTL, ABCG8, HSPD1, ATP6V0A2, TNFRSF1A, SLC22A12, ALPL, SPRY2, GUCY2C, SLC7A7, FGF23, AVPR2, ATP8B1, FXYD2, SLC26A3, ABCC8, CTSD, BMPR2, CD44, SLC35A2, CAV3, TTR, PFKM, SLCO1B3, PRODH, SLC2A2, HNF1B, IGF1, SLC7A9, SLC22A5, SCNN1B, SLC4A1, SLC29A3, LMX1B, MC2R, PSEN2, CNTN1, GCK, MYO5B, SLC40A1, HRAS, MTOR, SLC16A1, AKT1, OSTM1, KRAS, BEST1, CFTR, TP53, SEC63, IRS2, ATP5A1, MCOLN1, NUP107, SLC9A3R1, SLC1A1, ACD, WNK4, BSND, CTNS, SLC46A1, SLC37A4, ATP7B, PTPN1, ABCG2, HK1, AQP2, TRPV4, ABCD3, CLCNKB, ABCC2, BCR, CASQ1, POLA1, SSR4, ATP6V1B1, CLCN5, SLC2A1, BMPR1A, HCCS, SLC12A6, RANBP2, NOTCH1, KNG1, ABCG5, SLC39A8, PTPN11, PDHX, CP, KLF1, ATP7A, ABCB6, AFP, STAT3, PRKACA, CACNA1C, INSR, HAMP, SLC2A4, CLPB, SOS1, PEX3, SLC33A1, CBX2, STAR, GATA4, PCSK9, INS, BDNF, MECP2, PEX19, SLC3A1, FTH1, GDNF, LRP2, ANK1, CDSN, SLC6A20, TF, ZAP70, NR3C1, SLC12A1, SLC12A3, HFE, SLC36A2, ANO6, PIK3R1

{HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, COMBINED HYPERLIPIDEMIA, FAMILIAL, {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, POLYCYTHEMIA VERA, SOMATIC, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, CAFFEY DISEASE, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, VON WILLEBRAND DISEASE, TYPE 1, LEPRECHAUNISM, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ALZHEIMER DISEASE-2, SHORT SYNDROME, LYSINURIC PROTEIN INTOLERANCE, NEPHROTIC SYNDROME, TYPE 1, SQUAMOUS CELL CARCINOMA, HEAD AND NECK,; SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CARDIAC VALVULAR DYSPLASIA, X-LINKED, FACTOR V DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, GLANZMANN THROMBASTHENIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, CYSTINURIA, ATRANSFERRINEMIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], HYPOBETALIPOPROTEINEMIA, VON WILLIBRAND DISEASE, TYPE 3, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, LYMPHOPROLIFERATIVE SYNDROME 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LEUKOCYTE ADHESION DEFICIENCY, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BURKITT LYMPHOMA, SEA-BLUE HISTIOCYTE DISEASE, CALCIUM OXALATE UROLITHIASIS, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, ERYTHROCYTE LACTATE TRANSPORTER DEFECT, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, RABSON-MENDENHALL SYNDROME, BETHLEM MYOPATHY 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PLASMA FIBRONECTIN DEFICIENCY, IMMUNODEFICIENCY 43, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, 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, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

NRAS, TF, CAV1, PROS1, APOE, MYC, IGF1, SLC7A9, VWF, TGFB1, MMP2, PTPN11, LPL, ITGB3, COL6A1, F5, PPARG, INSR, SLC3A1, PLG, ITGB2, ITGA2B, FN1, APOB, SOS1, PROC, B2M, LYZ, IGF1R, NPHS1, JAK2, ITGA3, COL1A1, CD44, PIK3CA, AKT1, HRAS, COL1A2, EGFR, KRAS, SH2D1A, ITK, NR3C1, SELP, THBD, CDH1, FLNA, ITGA6, SLC16A1, SLC7A7, 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}, BARAITSER-WINTER SYNDROME 1, POLYPOSIS, JUVENILE INTESTINAL, JUVENILE POLYPOSIS SYNDROME, INFANTILE FORM, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 7, HYPER-IGE RECURRENT INFECTION SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {SCHIZOAFFECTIVE DISORDER, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA, SUSCEPTIBILITY TO}, {SCHIZOPHRENIA}, SCHIZOPHRENIA, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SHORT SYNDROME, ATELOSTEOGENESIS, TYPE I, SELECTIVE T-CELL DEFECT, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ATELEIOTIC DWARFISM, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 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, SPHEROCYTOSIS, TYPE 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}, HERMANSKY-PUDLAK SYNDROME 1, HYPOPARATHYROIDISM FAMILIAL ISOLATED, SPHEROCYTOSIS, TYPE 1, KOWARSKI SYNDROME, MEDULLARY CYSTIC KIDNEY DISEASE 1, ?PROGESTERONE RESISTANCE, AGAMMAGLOBULINEMIA, X-LINKED 1, LARON DWARFISM, {DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, INSULIN-DEPENDENT}, {DIABETES, TYPE 1, SUSCEPTIBILITY TO}, {DIABETES MELLITUS, TYPE I, SUSCEPTIBILITY TO}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ALZHEIMER DISEASE, TYPE 4, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEPHROTIC SYNDROME, TYPE 11, IMMUNODEFICIENCY 43, ACUTE MYELOID LEUKEMIA, M6 TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, JOHANSON-BLIZZARD SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, [DYSTRANSTHYRETINEMIC HYPERTHYROXINEMIA], ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, VON WILLEBRAND DISEASE, TYPE 1, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ENHANCED S-CONE SYNDROME, HARTSFIELD SYNDROME, PITUITARY DEPENDENT HYPERCORTISOLISM, DIAMOND-BLACKFAN ANEMIA 6, ATRANSFERRINEMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 44, PRIMARY PULMONARY HYPERTENSION, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, GROWTH HORMONE DEFICIENCY, ISOLATED, TYPE II, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, ACETYL-COA CARBOXYLASE DEFICIENCY, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BURKITT LYMPHOMA, AMYLOIDOSIS, FINNISH TYPE, HYPERINSULINISM-HYPERAMMONEMIA SYNDROME, MEDULLOBLASTOMA, DESMOPLASTIC, {MEDULLOBLASTOMA}, MEDULLOBLASTOMA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5, TUBEROUS SCLEROSIS 2, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, GALACTOSIALIDOSIS, RABSON-MENDENHALL SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ARGININEMIA, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, HYPOPHOSPHATEMIC RICKETS, AR, PAPILLORENAL SYNDROME, HEREDITARY PYROPOIKILOCYTOSIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, CAFFEY DISEASE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q, DUCHENNE MUSCULAR DYSTROPHY, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, NOONAN SYNDROME 4, {PAGET DISEASE OF BONE 2, EARLY-ONSET}, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {MELANOMA, CUTANEOUS MALIGNANT, 2}, COMMON VARIABLE IMMUNODEFICIENCY 1, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, GERM CELL TUMORS,; TESTICULAR TUMOR, SOMATIC,; SPERMATOCYTIC SEMINOMA, SOMATIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, SMALL CELL CANCER OF THE LUNG, SOMATIC, 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, CARPAL TUNNEL SYNDROME, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, BECKER MUSCULAR DYSTROPHY, CALCIUM OXALATE UROLITHIASIS, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, 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, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, LIPOPROTEIN LIPASE DEFICIENCY, GLYCOGEN STORAGE DISEASE XI, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, 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, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VON WILLIBRAND DISEASE, TYPE 3, ERYTHROCYTOSIS, FAMILIAL, 2, LEUKOCYTE ADHESION DEFICIENCY, HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE, ALEXANDER DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOSARCOMA, SOMATIC, OSTEOSARCOMA, ANDROGEN INSENSITIVITY, GLANZMANN THROMBASTHENIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, PAGET DISEASE OF BONE 3, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, AICARDI-GOUTIERES SYNDROME 5, IMMUNODEFICIENCY, COMMON VARIABLE, 4, AICARDI-GOUTIERES SYNDROME 6, OSTEOLYSIS, FAMILIAL EXPANSILE, {MULTIPLE MYELOMA, SUSCEPTIBILITY TO}, {MULTIPLE MYELOMA, RESISTANCE TO}, NEPHROTIC SYNDROME, TYPE 12, LYMPHOPROLIFERATIVE SYNDROME 2, PSEUDOHYPOALDOSTERONISM, TYPE IIE, OVARIAN CARCINOMA, SOMATIC,; OVARIAN CANCER, SOMATIC,; ADENOCARCINOMA, OVARIAN, SOMATIC,; {OVARIAN CANCER, SOMATIC},; OVARIAN CARCINOMA, WISKOTT-ALDRICH SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE 2, LIPOID ADRENAL HYPERPLASIA, PAGET DISEASE OF BONE 5, JUVENILE-ONSET, XERODERMA PIGMENTOSUM, GROUP B, {HASHIMOTO THYROIDITIS}, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, ?{AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO}, AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, NEPHROTIC SYNDROME, TYPE 6, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AMYLOIDOSIS, 3 OR MORE TYPES, AMYLOIDOSIS, FAMILIAL VISCERAL, AMYLOIDOSIS, RENAL, ?AMYLOIDOSIS, FAMILIAL VISCERAL, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {CELIAC DISEASE, SUSCEPTIBILITY TO}, SMITH-KINGSMORE SYNDROME, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

CAV1, SQSTM1, SPTA1, TNFRSF13B, MYC, ACTB, FAS, CUL3, MYD88, MAPK8IP1, CTSA, RPL5, STAT1, AGT, GFAP, PPARG, INSR, CDH1, CTNNB1, BTK, FGA, B2M, CDKN2A, RANBP2, ITGA2B, COL1A1, PIK3CA, SOS1, PRF1, FGG, SMAD4, TNFRSF11B, IGF1, CREBBP, NR2E3, HLA-DQA1, IL2RG, IRS1, ACTA1, CSF2RB, FGFR3, PLEC, NFKB2, TNFRSF13C, PLAU, EGFR, NME1, IRAK3, VWF, NOS3, THRA, ERCC3, CIITA, MTOR, FGFR1, HMGA1, PAX2, UBR1, PGR, STAT2, KRAS, IFNG, BMPR1A, PSMB8, CCND1, PSEN1, PTH, TFG, CD27, TAP1, AAAS, CD44, GLUD1, HSPD1, TNFRSF1A, SPRY2, PTPN1, RB1, FGF23, STX11, STAT3, VCP, BRAF, INS, ARG1, BMPR2, GATA1, NCF1, TTR, CALR, ITGB3, GJA1, BLNK, OAS1, LDHA, FGB, GHR, HLA-DRB1, GMPPB, APC, PCK1, VHL, NUP107, ITGB2, FN1, KL, AIP, ACACA, IGF1R, PARK2, TP53, IRS2, DCTN1, CASP8, NUP93, AKT1, PTPRO, FANCA, DMP1, IL1RN, GSN, CFTR, LYZ, KIT, ADAR, NRAS, AR, FLNA, ITK, RETN, NTRK1, PTPN11, LPL, TNFAIP3, MUC1, DTNBP1, BCL10, DMD, DISC1, WAS, PRKACA, SAMHD1, CD19, HLA-B, NOTCH1, FADD, ATM, ACTN4, TNFRSF11A, IL6, STAR, JAK3, HLA-DQB1, BDNF, TF, TGFB1, CTLA4, HRAS, FASLG, ANK1, EPOR, ZAP70, SPTB, KDR, JAK2, GH1, FLNB, PIK3R1