CARDIOVASCULAR

BARAITSER-WINTER SYNDROME 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, CARDIOMYOPATHY, HYPERTROPHIC, 11, AORTIC ANEURYSM, FAMILIAL THORACIC 4, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, ATRIAL SEPTAL DEFECT 5, CARDIOMYOPATHY, DILATED, 3B, SESAME SYNDROME, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, LONG QT SYNDROME 15, DUCHENNE MUSCULAR DYSTROPHY, MAY-HEGGLIN ANOMALY, LIANG DISTAL MYOPATHY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, 2, LONG QT SYNDROME 14, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, AORTIC ANEURYSM, FAMILIAL THORACIC 7, BECKER MUSCULAR DYSTROPHY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, MALFORMATION OF THE HEART, OGDEN SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 22, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4, CARDIOMYOPATHY, DILATED, 1KK, CARDIOMYOPATHY, DILATED, 1II, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, CARDIOMYOPATHY, HYPERTROPHIC, 3, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, ACTB, ACTC1, CBL, NAA10, TPM1, KCNJ10, MYLK, MYH9, TPM3, AKT1, MYPN, MYH7, ACTN4, SGCG, CRYAB, FLNC, MYH6, MYH11, FLNB, DMD

BARAITSER-WINTER SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, AORTIC ANEURYSM, FAMILIAL THORACIC 9, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AD, GLUTAMINE DEFICIENCY, CONGENITAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 5, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, WOLFRAM SYNDROME, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, DONNAI-BARROW SYNDROME, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, MYOTONIC DYSTROPHY 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CHILD SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BARAITSER-WINTER SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), {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, LOEYS-DIETZ SYNDROME 2, CORNELIA DE LANGE SYNDROME 3, LEOPARD SYNDROME 3, ?DYSTONIA 23, LYMPHEDEMA, HEREDITARY, III, BARDET-BIEDL SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, STORMORKEN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ESTROGEN RESISTANCE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MYXOMA, INTRACARDIAC, CARDIOMYOPATHY, DILATED, 1E, RUBINSTEIN-TAYBI SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SADDAN, SMITH-LEMLI-OPITZ SYNDROME, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, BRUGADA SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, MEND SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 7, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, NOONAN SYNDROME 10, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, CARDIOMYOPATHY, DILATED, 1X, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), ESSENTIAL HYPERTENSION, CARDIOMYOPATHY, HYPERTROPHIC, 18, [BILIRUBIN, SERUM LEVEL OF, QTL1], AORTIC ANEURYSM, FAMILIAL THORACIC 8, EHLERS-DANLOS SYNDROME, TYPE 3, {METABOLIC SYNDROME, PROTECTION AGAINST}, NAXOS DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, RENAL TUBULAR DYSGENESIS, YUNIS-VARON SYNDROME, PRIMARY PULMONARY HYPERTENSION, OCCIPITAL HORN SYNDROME, ADAMS-OLIVER SYNDROME 3, SICK SINUS SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 6, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, FRAGILE X SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CARDIOMYOPATHY, HYPERTROPHIC, 4, MYOPATHY, MYOFIBRILLAR, 1, MYHRE SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, GALACTOSIALIDOSIS, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, NEUROFIBROMATOSIS, TYPE 1, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PULMONARY HYPERTENSION, PRIMARY, 3, FANCONI ANEMIA, COMPLEMENTATION GROUP C, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, NON-IMMUNE HYDROPS FETALIS, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, PELGER-HUET ANOMALY, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, VENTRICULAR TACHYCARDIA, IDIOPATHIC, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OCULOECTODERMAL SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, COPROPORPHYRIA, HARDEROPORPHYRIA, TRIFUNCTIONAL PROTEIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, HETEROTOPIA, PERIVENTRICULAR, ATRIAL SEPTAL DEFECT 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MYOTONIC DYSTROPHY 2, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, BERGER DISEASE, TANGIER DISEASE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, ?CHARGE SYNDROME, CHARGE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE VII, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, VENTRICULAR SEPTAL DEFECT 1, RITSCHER-SCHINZEL SYNDROME 1, ?CARDIOMYOPATHY, HYPERTROPHIC, 19, ALAGILLE SYNDROME 2, ALAGILLE SYNDROME, CORNELIA DE LANGE SYNDROME 1, HYPERTHYROIDISM, NONAUTOIMMUNE, ATRIAL STANDSTILL 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, APPARENT MINERALOCORTICOID EXCESS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, CARDIOMYOPATHY, DILATED, 1A, ROBINOW SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, ?PRUNE BELLY SYNDROME, DESMOSTEROLOSIS, LIPOPROTEIN LIPASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, CARDIOMYOPATHY, HYPERTROPHIC, 11, ASPARTYLGLUCOSAMINURIA, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, MENKES DISEASE, SESAME SYNDROME, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, ATRIAL SEPTAL DEFECT 5, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HAY-WELLS SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, NOONAN SYNDROME 7, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, CARDIOMYOPATHY, DILATED, 1U, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, CUTIS LAXA, AD, LOEYS-DIETZ SYNDROME 4, WHITE-SUTTON SYNDROME, HEMOCHROMATOSIS TYPE 1, ATRIOVENTRICULAR SEPTAL DEFECT 4, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PSEUDOHYPOALDOSTERONISM, TYPE 2, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, ATRIAL FIBRILLATION, FAMILIAL, 9, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, TRICHOHEPATOENTERIC SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, LONG QT SYNDROME-3, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ATRIAL FIBRILLATION, FAMILIAL, 6, CODAS SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, CARDIOMYOPATHY, DILATED, 1V, DIAMOND-BLACKFAN ANEMIA 1, ATRIAL FIBRILLATION, FAMILIAL, 10, SMITH-KINGSMORE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, KCNA5, TSC2, CAV1, CLN3, UGT1A1, COL1A1, CNBP, POMT1, ACTB, LBR, STIM1, CUL3, CTSA, CACNA1C, RPL5, F2, AGT, PPARG, AGTR1, PRKAR1A, NSDHL, KCNH2, APOB, RYR2, NEB, PIGC, PLG, DST, ARSB, PTRF, PNPLA2, DES, CACNA1B, NOTCH1, RPS19, JAG1, EMD, TGFBR2, ACTC1, SMAD4, WFS1, GNAI2, LDLR, RBPJ, NF1, NUBPL, APOA2, KRAS, APOA1, CBL, ELN, PEX5, LZTR1, CREBBP, PGM1, SEMA3E, NOS3, GLUL, LMNB1, COL4A3, PTGIS, RYR1, PLOD3, COL1A2, HNRNPK, ABCA1, JAK2, GTPBP3, DSP, LONP1, CALR3, NR1I3, PSEN1, IFNG, TRDN, JUP, AVPR2, FMR1, TGFBR1, DSE, CRTAP, PRKG1, TMEM173, CACNA1S, TSHR, RBP4, FGF23, TP63, KMT2A, FIG4, ADD1, LRP6, BMPR2, PLIN1, CAV3, EDN1, TTR, RET, AGL, GJA1, TGFB2, HSD17B10, SNRPB, POGZ, CBS, C3, MYBPC3, STAT1, PSEN2, LRP5, DMD, VHL, KIF1B, COL4A1, CASQ2, BMP2, HRAS, HSD11B2, MTOR, AKT1, KL, HADHB, MAX, WNT5A, ANK2, MRPL3, CFTR, MUT, PEX3, SEC63, EGFR, ATP5A1, PEX19, HFE, RAF1, TRPM4, FN1, SNCA, SLC37A4, ARL6, HSPA9, PTEN, FGFR3, NPPA, MTTP, CHRM3, PLN, G6PC3, PIGA, FLNA, DHCR24, SMARCB1, NOS2, ACTG1, DPM1, DHCR7, PRKCSH, TGFB1, KCNJ10, CENPE, LPL, GATA4, NAGLU, ATP7A, DMPK, ESR1, MT-CO2, GATA5, EBP, HLA-B, PTPN11, KIAA0196, SELE, SOS1, ALG1, NDUFB9, SCN5A, FKTN, BRAF, FKRP, CPOX, FANCC, PCSK9, GNAS, PIEZO1, APP, AGA, KCNJ2, SMC3, MFAP5, PEX16, LRP2, ACTN2, TMEM43, CALR, AGPAT2, SMAD3, NOTCH2, EXT2, PIGR, SYNE2, SKIV2L, MAP2K2

BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, GAUCHER DISEASE, PERINATAL LETHAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, SUPRAVALVAR AORTIC STENOSIS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, HEMOCHROMATOSIS TYPE 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, DONNAI-BARROW SYNDROME, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, DIAMOND-BLACKFAN ANEMIA 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, LYMPHEDEMA, HEREDITARY, IA, ZIMMERMANN-LABAND SYNDROME 1, MYOPATHY, DISTAL, 4, CARASIL SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, 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}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, ESTROGEN RESISTANCE, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, MEDULLARY CYSTIC KIDNEY DISEASE 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LOEYS-DIETZ SYNDROME 5, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, COENZYME Q10 DEFICIENCY, PRIMARY, 7, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PROPIONICACIDEMIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, AORTIC VALVE DISEASE 2, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, PULMONARY HYPERTENSION, PRIMARY, 2, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, GAUCHER DISEASE, TYPE IIIC, GLUTAMINE DEFICIENCY, CONGENITAL, CARDIOMYOPATHY, HYPERTROPHIC, 3, CEREBROTENDINOUS XANTHOMATOSIS, NOONAN SYNDROME 4, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, CORNELIA DE LANGE SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, VLCAD DEFICIENCY, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HETEROTOPIA, PERIVENTRICULAR, OCULODENTODIGITAL DYSPLASIA, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, OCULOECTODERMAL SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, ESSENTIAL HYPERTENSION, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AORTIC ANEURYSM, FAMILIAL THORACIC 8, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, EHLERS-DANLOS SYNDROME, TYPE 3, {METABOLIC SYNDROME, PROTECTION AGAINST}, LOEYS-DIETZ SYNDROME 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, ATRIAL SEPTAL DEFECT 9, FRONTOMETAPHYSEAL DYSPLASIA, ATRANSFERRINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, RENAL TUBULAR DYSGENESIS, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, DENYS-DRASH SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP O, LONG QT SYNDROME 14, BURN-MCKEOWN SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, LEBER OPTIC ATROPHY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), AMYLOIDOSIS, FINNISH TYPE, MYHRE SYNDROME, ?TETRA-AMELIA SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MYOPATHY, DISTAL, TATEYAMA TYPE, ALPORT SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, HAY-WELLS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, GAUCHER DISEASE, TYPE I, SERKAL SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), FANCONI ANEMIA, COMPLEMENTATION GROUP C, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, OROTIC ACIDURIA, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CORNELIA DE LANGE SYNDROME 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, ATRIAL SEPTAL DEFECT 5, GM1-GANGLIOSIDOSIS, TYPE I, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, TRIFUNCTIONAL PROTEIN DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ETHYLMALONIC ENCEPHALOPATHY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, CORNELIA DE LANGE SYNDROME 3, NOONAN SYNDROME 10, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, CLOVE SYNDROME, SOMATIC, BETHLEM MYOPATHY 1, MALONYL-COA DECARBOXYLASE DEFICIENCY, ATRIAL SEPTAL DEFECT 2, MUCOPOLYSACCHARIDOSIS VII, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, TANGIER DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MAY-HEGGLIN ANOMALY, OSTEOGENESIS IMPERFECTA, TYPE VII, PULMONARY VENOOCCLUSIVE DISEASE 1, VENTRICULAR SEPTAL DEFECT 1, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, EPSTEIN SYNDROME, ?CARDIOMYOPATHY, HYPERTROPHIC, 19, MALFORMATION OF THE HEART, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, ALAGILLE SYNDROME 2, ALAGILLE SYNDROME, MALOUF SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, TYPE IV, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, FIBROCHONDROGENESIS 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, CARDIOMYOPATHY, DILATED, 1A, ROBINOW SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?PRUNE BELLY SYNDROME, ?ATRIAL FIBRILLATION 15, COPROPORPHYRIA, HARDEROPORPHYRIA, LIPOPROTEIN LIPASE DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 6, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, CARDIOMYOPATHY, HYPERTROPHIC, 11, VENTRICULAR TACHYCARDIA, IDIOPATHIC, MUCOPOLYSACCHARIDOSIS II, POLYCYSTIC LIVER DISEASE, OMODYSPLASIA 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, PHYTANIC ACID STORAGE DISEASE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, MUCOPOLYSACCHARIDOSIS IH/S, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CEREBROCOSTOMANDIBULAR SYNDROME, ADAMS-OLIVER SYNDROME 4, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, STICKLER SYNDROME, TYPE I, D-2-HYDROXYGLUTARIC ACIDURIA, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ATRIOVENTRICULAR SEPTAL DEFECT 5, CILIARY DYSKINESIA, PRIMARY, 6, ?CARDIOMYOPATHY, DILATED, 2A, COENZYME Q10 DEFICIENCY, PRIMARY, 2, EHLERS-DANLOS SYNDROME, TYPE VI, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, SICKLE CELL ANEMIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, TRICHOHEPATOENTERIC SYNDROME 2, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, COMBINED HYPERLIPIDEMIA, FAMILIAL, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ATRIAL FIBRILLATION, FAMILIAL, 6, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, CODAS SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, CARDIOMYOPATHY, HYPERTROPHIC, 7, MUCOPOLYSACCHARIDOSIS IVA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, LMNA, NEU1, CAV1, HBB, TNNI3, APOB, COL1A1, SDHD, ACADS, ACTB, CYP27A1, TWIST1, COL3A1, FXN, RPL5, NDUFS2, F2, GUSB, AGT, PCCB, PPARG, PDSS1, ETHE1, HIBCH, PHYH, YARS2, PROS1, RYR2, BAAT, PLG, HADH, COX6B1, WT1, EOGT, COL4A5, TGFBR1, TGFB2, PNPLA2, SUFU, MLYCD, PIK3CA, SOS1, GALNS, JAG1, DLD, TGFBR2, ACTC1, SMAD4, CREBBP, UMPS, LIPT1, MT-ND2, TRMT5, RBPJ, SF3B4, PEX5, HTRA1, ACTA1, ACE, RASA1, TPM1, APOA2, LRP6, KRAS, APOA1, CBL, LZTR1, HEXB, NME1, GPC3, NOTCH2, IGF2, AGTR1, IDS, GNAS, NOS3, GLUL, COL6A1, PROC, CBS, RYR1, PLOD3, CHRM3, TAF6, CTSA, CPOX, AGXT, HADHA, PYCR1, CALR, PLOD1, ESR1, DSP, LONP1, GNAI2, EARS2, CRYAB, IFNG, GPC6, MUC1, NKX2-1, PDGFRA, SGSH, POLR1A, PRKG1, COL5A1, ROR2, TF, MT-CYB, ATP6V1B2, ACTA2, SMC1A, FBXL4, ACADVL, SYNE2, TP63, TGFB3, PAM16, NDUFS3, BMPR2, COQ4, PTCH1, CAV3, FLNC, GLB1, ARSB, MUC5B, GJA1, SERPINC1, SCO2, HSD17B10, COL4A1, DVL3, F13A1, FLT4, GNS, PEX19, MECP2, ARL2BP, GMPPB, LRP5, F5, SOX9, VHL, CALR3, COL4A4, CASQ2, BMP2, DBH, FKBP14, PPOX, MTOR, FN1, SOX2, TXNL4A, WNT5A, MRPL3, CFTR, MUT, ERBB3, TANGO2, SEC63, LRP2, ATP5A1, SLC25A4, RAF1, HNRNPK, GLI3, NOTCH1, AKT1, SNCA, RAD51C, SELE, HSPA9, PTEN, ECHS1, NPPA, MTTP, GSN, NME8, IDUA, COL6A3, HRAS, COL2A1, SDHAF1, COL6A2, FLNA, SMAD3, NDUFS1, NOS2, ALDH18A1, PRKCSH, FANCC, TGFB1, WNT3, COL5A2, LPL, GATA6, NUP155, NAGLU, MYH9, COL11A1, REN, STAT1, PEX7, MT-CO2, GATA5, D2HGDH, PTPN11, AKT3, PCCA, LDLR, ACTN4, COL4A3, CRTAP, GBA, GLA, GATA4, GPX4, SNRPB, CLASP1, APP, CTCF, SMAD9, SMC3, MFAP5, COL1A2, EGFR, ACTN2, WNT4, SARS2, SMAD6, EPOR, MYH11, NDUFB11, NR3C1, ADAM17, EXT2, PAX8, C10orf2, JAK2, HFE, TRDN, SKIV2L, ATIC

BASAL CELL NEVUS SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, AORTIC ANEURYSM, FAMILIAL THORACIC 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, LYMPHEDEMA, HEREDITARY, IA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, CARASIL SYNDROME, STICKLER SYNDROME, TYPE I, {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}, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, CARDIOMYOPATHY, HYPERTROPHIC, 3, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ESSENTIAL HYPERTENSION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, {METABOLIC SYNDROME, PROTECTION AGAINST}, ATRIAL SEPTAL DEFECT 9, ATRANSFERRINEMIA, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, ?TETRA-AMELIA SYNDROME, BETHLEM MYOPATHY 1, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, DISTAL, TATEYAMA TYPE, ROBINOW SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE II, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, ATRIAL SEPTAL DEFECT 2, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, OSTEOGENESIS IMPERFECTA, TYPE VII, PULMONARY VENOOCCLUSIVE DISEASE 1, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, EPSTEIN SYNDROME, ?CARDIOMYOPATHY, HYPERTROPHIC, 19, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, EHLERS-DANLOS SYNDROME, TYPE IV, FIBROCHONDROGENESIS 1, ALPORT SYNDROME, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, LIPOPROTEIN LIPASE DEFICIENCY, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, HYPOPLASTIC LEFT HEART SYNDROME 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, ADAMS-OLIVER SYNDROME 4, ATRIOVENTRICULAR SEPTAL DEFECT 5, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, ATRIAL FIBRILLATION, FAMILIAL, 6, SERKAL SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CAV3, TF, APOA2, APP, PLOD3, APOB, APOA1, SOX9, NOS2, HSD17B10, COL4A4, TPM1, ROR2, PRKCSH, WNT5A, TGFB1, FLT4, COL3A1, PPARG, LPL, F5, GATA4, GMPPB, CAV1, MYH9, COL6A1, COL11A1, MTOR, SNCA, VHL, EOGT, COL5A1, CASQ2, SUFU, NOS3, COL6A3, COL4A3, AKT1, BMP2, GJA1, RYR2, PROC, COL6A2, ACTN4, PLG, NAGLU, COL5A2, CBL, WT1, LDLR, SEC63, GATA6, COL4A5, TGFBR1, FN1, COL4A1, WNT3, COL1A1, CALR, ACTN2, F2, CALR3, HTRA1, FKBP14, COL1A2, ARSB, PDGFRA, SELE, PTPN11, WNT4, MYH11, NPPA, MTTP, CRTAP, AGT, ESR1, COL2A1, NOTCH1, LRP6, TRDN, PTEN, BMPR2

BARAITSER-WINTER SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), LATERAL MENINGOCELE SYNDROME, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, WOLFRAM SYNDROME, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, DONNAI-BARROW SYNDROME, CHIME SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, MYOTONIC DYSTROPHY 1, CHILD SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, BARAITSER-WINTER SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, LYMPHEDEMA, HEREDITARY, III, SUPRAVALVAR AORTIC STENOSIS, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, STORMORKEN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, AURICULOCONDYLAR SYNDROME 3, PETERS-PLUS SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MYXOMA, INTRACARDIAC, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, SMITH-LEMLI-OPITZ SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MEND SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, MUSCULAR DYSTROPHY, CONGENITAL, ESSENTIAL HYPERTENSION, CARDIOMYOPATHY, HYPERTROPHIC, 18, [BILIRUBIN, SERUM LEVEL OF, QTL1], AORTIC ANEURYSM, FAMILIAL THORACIC 8, HEMOCHROMATOSIS, TYPE 2B, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, EHLERS-DANLOS SYNDROME, TYPE 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, LOEYS-DIETZ SYNDROME 3, NAXOS DISEASE, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 6, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, PULMONARY HYPERTENSION, PRIMARY, 3, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MALOUF SYNDROME, GALACTOSIALIDOSIS, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, HAY-WELLS SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, WHITE-SUTTON SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, LYSYL HYDROXYLASE 3 DEFICIENCY, NON-IMMUNE HYDROPS FETALIS, PELGER-HUET ANOMALY, CORNELIA DE LANGE SYNDROME 3, KLEEFSTRA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ATRIAL SEPTAL DEFECT 5, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OCULOECTODERMAL SYNDROME, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, GLYCOGEN STORAGE DISEASE IA, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, NOONAN SYNDROME 10, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, HETEROTOPIA, PERIVENTRICULAR, ATRIAL SEPTAL DEFECT 2, RESTRICTIVE DERMOPATHY, LETHAL, HEMOCHROMATOSIS, TYPE 4, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, TRICHOHEPATOENTERIC SYNDROME 2, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, VENTRICULAR SEPTAL DEFECT 1, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, HEMOCHROMATOSIS TYPE 1, MALFORMATION OF THE HEART, ALAGILLE SYNDROME 2, HYPERTHYROIDISM, NONAUTOIMMUNE, ATRIAL STANDSTILL 2, TRIMETHYLAMINURIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, FRAGILE X SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, CHILBLAIN LUPUS, CARDIOMYOPATHY, DILATED, 1A, ROBINOW SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, LIPOPROTEIN LIPASE DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 6, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, CARDIOMYOPATHY, HYPERTROPHIC, 11, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, CPT DEFICIENCY, HEPATIC, TYPE IA, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CARDIOMYOPATHY, HYPERTROPHIC, 17, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, CARNEY COMPLEX, TYPE 1, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE VI, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ESTROGEN RESISTANCE, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, COWDEN SYNDROME 7, AORTIC ANEURYSM, FAMILIAL THORACIC 7, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, DIAMOND-BLACKFAN ANEMIA 7, HERMANSKY-PUDLAK SYNDROME 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, ATRIAL FIBRILLATION, FAMILIAL, 6, PULMONARY VENOOCCLUSIVE DISEASE 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, CARDIOMYOPATHY, DILATED, 1V, DIAMOND-BLACKFAN ANEMIA 1, CARDIOMYOPATHY, DILATED, 1U, AU-KLINE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, CAV1, TREX1, PLOD3, APOB, PDE4D, FMO3, POMT1, ACTB, LBR, PIGT, CTSA, RPL5, F2, B3GLCT, AGT, PPARG, AGTR1, HBB, VMA21, PRKAR1A, NSDHL, PROS1, G6PC3, PIGC, DST, PIGO, PNPLA2, DES, G6PC, NOTCH1, NOTCH3, ACTC1, SMAD4, WFS1, GNAI2, RBPJ, JPH2, KRAS, ERBB3, PIGV, EGFR, LZTR1, PIGM, NME1, NOTCH2, NOS3, LMNB1, CYP3A5, CBS, RYR1, EPHX1, LMNA, PSEN1, ALG10, PLOD1, CBL, NR1I3, IFNG, MYLK, JUP, CYP4F22, AVPR2, FMR1, TGFBR1, PRKG1, FKBP14, TMEM173, POMT2, TSHR, UGT1A1, TP63, SEC23B, POLR1A, BMPR2, CAV3, STIM1, RET, AGL, GJA1, XYLT2, DVL3, POGZ, TMCO1, STAT1, PSEN2, CASQ2, MTOR, FN1, MRPL3, DTNBP1, SEC63, LRP2, ATP5A1, HFE, RAF1, NOS2, ABCD4, EDN1, SLC37A4, ACTA2, RPS19, PTEN, NPPA, HAMP, PLN, RYR2, PIGA, FLNA, SLC40A1, PIGN, HNRNPK, SEPN1, TAB2, ACTG1, DPM1, DHCR7, PIGL, AKT1, XYLT1, PTPN11, LPL, GATA4, CFTR, TGFB1, DMPK, EXT2, MT-CO2, CACNA1C, EBP, HLA-B, DHCR24, PLG, ALG1, CPT1A, RPL11, ZMPSTE24, PIEZO1, APP, PEX19, SMC3, HRAS, PEX16, DOLK, ACTN2, PTGIS, SELE, CALR, AGPAT2, SMAD3, NR3C1, ESR1, ARSB, SYNE2, TRDN, SKIV2L, ATIC

OSTEOGENESIS IMPERFECTA, TYPE I, JERVELL AND LANGE-NIELSEN SYNDROME 1, BRUGADA SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, ATRIOVENTRICULAR SEPTAL DEFECT 3, LONG QT SYNDROME 12, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SHORT QT SYNDROME 2, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MYXOMA, INTRACARDIAC, ATRIAL FIBRILLATION, FAMILIAL, 3, THROMBOCYTHEMIA 3, HYPOPLASTIC LEFT HEART SYNDROME 1, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, OSTEOGENESIS IMPERFECTA, TYPE II, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, DUCHENNE MUSCULAR DYSTROPHY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CARDIAC VALVULAR DYSPLASIA, X-LINKED, POLYCYTHEMIA VERA, SOMATIC, CARDIOMYOPATHY, DILATED, 1V, CARNEY COMPLEX, TYPE 1, MELNICK-NEEDLES SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 10, FRONTOMETAPHYSEAL DYSPLASIA, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, LONG QT SYNDROME 14, SICK SINUS SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 7, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, MYOPATHY, MYOFIBRILLAR, 1, BECKER MUSCULAR DYSTROPHY, LONG QT SYNDROME-3, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MYOPATHY, DISTAL, TATEYAMA TYPE, CARDIOMYOPATHY, DILATED, 1E, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HETEROTOPIA, PERIVENTRICULAR, CARDIOMYOPATHY, DILATED, 1U, RENAL TUBULAR DYSGENESIS, LEFT VENTRICULAR NONCOMPACTION 1, WITH OR WITHOUT CONGENITAL HEART DEFECTS, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, ALPORT SYNDROME, PROTEUS SYNDROME, SOMATIC

KCNA5, CALM1, CAV3, C3AR1, F2, KCNQ1, GJA1, ERBB3, COL1A1, TGFB1, NOS3, SCN5A, PSEN2, FLNA, MYH9, AGT, DMD, PRKACA, CHRNA1, PRKAR1A, PSEN1, AKT1, FN1, RYR2, JAK2, COL4A5, APP, DES, RBPJ, EGFR, ACTN2, DTNA, SNTA1

CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS, CILIARY DYSKINESIA, PRIMARY, 20

DNAH1, DNAH5, DNAI2, CCDC114, DNAH8

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, BASAL CELL NEVUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 4, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, LONG QT SYNDROME 12, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, BARTTER SYNDROME, TYPE 2, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, DIAMOND-BLACKFAN ANEMIA 4, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, MYOTONIC DYSTROPHY 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, TRANSALDOLASE DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSAUTONOMIA, FAMILIAL, ATRIAL FIBRILLATION, FAMILIAL, 9, LEOPARD SYNDROME 3, ?DYSTONIA 23, CARDIOMYOPATHY, DILATED, 1CC, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 10, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, STROMME SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, ESTROGEN RESISTANCE, OGDEN SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CARDIOMYOPATHY, DILATED, 1E, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, CARDIOMYOPATHY, HYPERTROPHIC, 3, ATRIAL SEPTAL DEFECT 5, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, SHPRINTZEN-GOLDBERG SYNDROME, BRUGADA SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, BOHRING-OPITZ SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, ATRIAL FIBRILLATION, FAMILIAL, 7, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, ATRIAL FIBRILLATION, FAMILIAL, 13, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SICK SINUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC, 22, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4, CARDIOMYOPATHY, DILATED, 1KK, MUSCULAR DYSTROPHY, CONGENITAL, HETEROTOPIA, PERIVENTRICULAR, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, CARDIOMYOPATHY, HYPERTROPHIC, 20, SECKEL SYNDROME 2, NAXOS DISEASE, CHOANAL ATRESIA AND LYMPHEDEMA, LOEYS-DIETZ SYNDROME 3, FRANK-TER HAAR SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, ADAMS-OLIVER SYNDROME 3, DENYS-DRASH SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, DIAMOND-BLACKFAN ANEMIA 6, MARTSOLF SYNDROME, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 9, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CARDIOMYOPATHY, HYPERTROPHIC, 4, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, OPITZ GBBB SYNDROME, TYPE II, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MALOUF SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BARAITSER-WINTER SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SADDAN, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, CARDIOMYOPATHY, DILATED, 1U, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE I, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, NON-IMMUNE HYDROPS FETALIS, POLYCYTHEMIA VERA, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, LYMPHEDEMA, HEREDITARY, IA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OCULOECTODERMAL SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, VENTRICULAR SEPTAL DEFECT 3, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, DUCHENNE MUSCULAR DYSTROPHY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CARDIOMYOPATHY, HYPERTROPHIC, 11, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, ATRIAL FIBRILLATION, FAMILIAL, 11, ALSTROM SYNDROME, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, MYOTONIC DYSTROPHY 2, GENITOPATELLAR SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, TANGIER DISEASE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PULMONARY VENOOCCLUSIVE DISEASE 1, TUBEROUS SCLEROSIS 2, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, MALFORMATION OF THE HEART, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, PSEUDOHYPOALDOSTERONISM, TYPE IIB, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, ALAGILLE SYNDROME, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, LEFT VENTRICULAR NONCOMPACTION 1, WITH OR WITHOUT CONGENITAL HEART DEFECTS, FRONTOMETAPHYSEAL DYSPLASIA, FRAGILE X SYNDROME, CORNELIA DE LANGE SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, CARDIOMYOPATHY, DILATED, 1A, ROBINOW SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?PRUNE BELLY SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, AORTIC ANEURYSM, FAMILIAL THORACIC 6, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, SESAME SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CPT DEFICIENCY, HEPATIC, TYPE IA, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, RESTRICTIVE DERMOPATHY, LETHAL, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HAY-WELLS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, SIALIC ACID STORAGE DISORDER, INFANTILE, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MYHRE SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ADAMS-OLIVER SYNDROME 6, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ATRIAL FIBRILLATION, FAMILIAL, 10, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, NOONAN SYNDROME 7, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, CUTIS LAXA, AD, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, AORTIC ANEURYSM, FAMILIAL THORACIC 7, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, MECKEL SYNDROME 4, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, HEART-HAND SYNDROME, SLOVENIAN TYPE, LIANG DISTAL MYOPATHY, HERMANSKY-PUDLAK SYNDROME 1, ESSENTIAL HYPERTENSION, APERT SYNDROME, LONG QT SYNDROME-3, ALAGILLE SYNDROME 2, ATRIAL FIBRILLATION, FAMILIAL, 6, COFFIN-LOWRY SYNDROME, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, DIAMOND-BLACKFAN ANEMIA 1, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, SMITH-KINGSMORE SYNDROME, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, PDE4D, DSG1, C3AR1, CAV1, EDNRA, APOB, LMNA, COL1A1, CNBP, CHRNG, ACTB, PIGT, CENPF, CACNA1B, PSEN1, CACNA1C, RPL5, NRXN1, KLF1, F2, AGT, PPARG, AGTR1, CTNNA3, HIBCH, EDN1, PKD1, RYR2, MYH7, SLC17A5, PTPN14, ENG, DST, KIF1B, WT1, TERT, CLASP1, TGFBR1, FBP1, NEU1, DES, PIK3CA, ACTN4, WNK1, SGCG, RPS19, TGFBR2, EMD, DLL4, ACTC1, NAA10, CREBBP, CPT1A, GNAI2, LRP6, SPECC1L, SF3B4, LDB3, ACTA1, ACE, RASA1, TPM1, SCN1B, MYOM1, XRCC4, DSG2, ERBB3, CBL, ELN, NKX2-5, NME1, GPC3, ALMS1, ATP1B1, FLT4, NOS3, NEXN, LMNB1, GNB3, SCN4B, RYR1, FGFR1, CHRM3, KCNJ10, NR2F2, TAF6, MYBPC3, MYLK, ABCA1, SP110, CALR, DSP, IKBKAP, KCNJ1, IFNG, TPM2, EFTUD2, JUP, RPS17, GLIS3, MIB1, DSE, PRKG1, GLI3, RBPJ, SPRY2, ACTA2, SMC1A, TALDO1, RPS6KA3, RBBP8, TP63, KMT2A, ADD1, KAT6B, SMC3, SNTA1, BMPR2, KCNA5, PTCH1, CAV3, TTR, RET, UBN1, VHL, GJA1, SOX9, RAB3GAP2, SMAD4, DVL3, SGCA, C3, CEP290, DSC2, KRAS, FLNA, DMD, CHRNA1, SH3PXD2B, HES7, USP9X, BMP2, FN1, AKAP9, SMARCA4, FLNB, FHL1, ANK2, DDX58, NOTCH2, TAF2, EGFR, ATP5A1, RAF1, MAP2K2, NOS2, WNK4, AKT1, SNCA, JAG1, CDKN1C, NOTCH3, HSPA9, ATIC, PTEN, FGFR3, NPPA, KCNH1, GSN, TSC1, THBD, CFTR, CHRND, MYH6, ARHGAP31, ZFPM2, SMAD3, GJA5, HNRNPK, CD46, ACTG1, ASXL1, FLNC, PIK3R2, NOS1AP, TGFB1, IGF2, PTPN11, SCN5A, GATA4, DTNBP1, MYH9, DMPK, STAT1, NEB, PRKACA, GATA5, LIMS2, HLA-B, NOTCH1, PLG, SOS1, FMR1, FGFR2, PACS1, BRAF, MYPN, BVES, CACNA1S, APP, KCNJ2, SYNE2, HRAS, LRP2, ACTN2, SELE, ADAM17, MYH11, PNPLA2, NR3C1, ESR1, SKI, JAK2, DTNA, MTOR, PKP2

BARAITSER-WINTER SYNDROME 1, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ADAMS-OLIVER SYNDROME 6, DIAMOND-BLACKFAN ANEMIA 4, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, SECKEL SYNDROME 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, LYMPHEDEMA, HEREDITARY, IA, ZIMMERMANN-LABAND SYNDROME 1, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS 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}, LEOPARD SYNDROME 3, CARDIOMYOPATHY, DILATED, 1CC, SUPRAVALVAR AORTIC STENOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, AURICULOCONDYLAR SYNDROME 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, STROMME SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RENAL TUBULAR DYSGENESIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, CARDIOMYOPATHY, HYPERTROPHIC, 3, ATRIAL SEPTAL DEFECT 5, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MUSCULAR DYSTROPHY, CONGENITAL, ESSENTIAL HYPERTENSION, AORTIC ANEURYSM, FAMILIAL THORACIC 8, EHLERS-DANLOS SYNDROME, TYPE 3, CARDIOMYOPATHY, HYPERTROPHIC, 20, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, NAXOS DISEASE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, FRONTOMETAPHYSEAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ADAMS-OLIVER SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 6, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, AMYLOIDOSIS, FINNISH TYPE, SADDAN, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, MALOUF SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE I, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, HETEROTOPIA, PERIVENTRICULAR, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OCULOECTODERMAL SYNDROME, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, DUCHENNE MUSCULAR DYSTROPHY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LIANG DISTAL MYOPATHY, CARDIOMYOPATHY, HYPERTROPHIC, 11, RESTRICTIVE DERMOPATHY, LETHAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MYOTONIC DYSTROPHY 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MYOPATHY, MYOFIBRILLAR, 4, BECKER MUSCULAR DYSTROPHY, HEMOCHROMATOSIS TYPE 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, LEFT VENTRICULAR NONCOMPACTION 1, WITH OR WITHOUT CONGENITAL HEART DEFECTS, CORNELIA DE LANGE SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, MYHRE SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, HEART-HAND SYNDROME, SLOVENIAN TYPE, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, APERT SYNDROME, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, DIAMOND-BLACKFAN ANEMIA 1, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, LMNA, C3AR1, CAV1, FGFR1, APOB, COL1A1, CNBP, ACTB, PIGT, CENPF, MIB1, ANK2, RPL5, F2, ATP6V1B2, AGT, PPARG, EDN1, KMT2A, MYH7, ENG, DST, DTNA, PNPLA2, RPS19, DLL4, ACTC1, RBPJ, SF3B4, LDB3, ACTA1, ACE, RASA1, TPM1, LIMS2, LRP6, KRAS, MAP2K2, GPC3, IGF2, NOS3, NEXN, EDNRA, CHRM3, TAF6, JAK2, CBL, IFNG, TPM2, JUP, RPS17, TGFBR1, PRKG1, SMC1A, RBBP8, ADD1, SMC3, ARHGAP31, CAV3, TTR, FLNC, GJA1, SMAD4, NOS1AP, FLT4, STAT1, DMD, VHL, BMP2, KIF1B, FN1, SMARCA4, FHL1, EGFR, ATP5A1, AKT1, HSPA9, RAF1, FGFR3, GSN, THBD, MYH6, PTEN, FLNA, HNRNPK, KCNJ10, TGFB1, PTPN11, CD46, PRKACA, HLA-B, NOTCH1, PLG, SOS1, FGFR2, ACTN4, BRAF, SGCG, APP, RET, SYNE2, HRAS, LRP2, ACTN2, SELE, CALR, HES7, MYH11, NR3C1, ESR1, FLNB, ATIC

ATRIOVENTRICULAR SEPTAL DEFECT 3, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, BARAITSER-WINTER SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OCULODENTODIGITAL DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ESSENTIAL HYPERTENSION, LEFT VENTRICULAR NONCOMPACTION 7, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DONNAI-BARROW SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, DIAMOND-BLACKFAN ANEMIA 6, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LOEYS-DIETZ SYNDROME 3, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, LONG QT SYNDROME 14, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, HYPOPLASTIC LEFT HEART SYNDROME 1, TANGIER DISEASE, THROMBOCYTHEMIA 3, SUPRAVALVAR AORTIC STENOSIS, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, {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}, RENAL TUBULAR DYSGENESIS, LEFT VENTRICULAR NONCOMPACTION 1, WITH OR WITHOUT CONGENITAL HEART DEFECTS, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LEOPARD SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, TAB2, RASA1, RET, APP, APOB, APOA1, SMAD4, ACTB, TGFB1, PTPN11, STAT1, AGT, PPARG, GATA5, LRP2, BMP2, PLG, AKT1, FN1, GJA1, ACTN4, JAK2, RPL5, VPS33B, PCSK9, DTNA, MIB1, SOS1, HRAS, EGFR, ACTN2, NDUFAF5, PTEN, SMAD3, ESR1, UMOD

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, NON-IMMUNE HYDROPS FETALIS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, MUCOPOLYSACCHARIDOSIS IH/S, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, OMODYSPLASIA 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ESSENTIAL HYPERTENSION, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AORTIC VALVE DISEASE 1, DONNAI-BARROW SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, GM1-GANGLIOSIDOSIS, TYPE I, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS IS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, TANGIER DISEASE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, GALACTOSIALIDOSIS, OSTEOGENESIS IMPERFECTA, TYPE II, LOEYS-DIETZ SYNDROME 4, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, GAUCHER DISEASE, TYPE IIIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, MUCOPOLYSACCHARIDOSIS IVA, GAUCHER DISEASE, TYPE I

ACTA1, GPC3, GLB1, APP, GPC6, APOA1, COL1A1, HEXB, NOTCH1, IDS, CTSA, STAT1, TGFB2, GUSB, GNS, TGFB1, BMP2, NOS3, FN1, IDUA, CBL, MRPL3, NAGLU, GBA, IFNG, GLA, LRP2, SGSH, NEU1, GALNS, EGFR, ARSB

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 5, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ATRANSFERRINEMIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOPATHY, DISTAL, 4, MYOPATHY, MYOFIBRILLAR, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {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}, LONG QT SYNDROME 14, SICKLE CELL ANEMIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ATRIAL FIBRILLATION, FAMILIAL, 6, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ATRIAL STANDSTILL 2, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, TF, TGFB2, HBB, APOB, APOA1, NPPA, F5, FLNC, IGF2, TGFB1, NOS3, STAT1, TGFB3, F2, AGT, APP, DBH, PLG, AKT1, PROS1, ACTN4, ERBB3, LDLR, CRYAB, TGFBR1, CTCF, FN1, ACTN2, CALR, PTEN, F13A1

VERHEIJ SYNDROME, LONG QT SYNDROME 12, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, DIAMOND-BLACKFAN ANEMIA 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 2, PULMONARY VENOOCCLUSIVE DISEASE 1, CARASIL SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 10, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CARDIOMYOPATHY, DILATED, 1E, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, GAUCHER DISEASE, TYPE IIIC, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATRIAL FIBRILLATION, FAMILIAL, 3, BRUGADA SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BOHRING-OPITZ SYNDROME, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ATRIAL FIBRILLATION, FAMILIAL, 14, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 18, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, PEROXISOME BIOGENESIS DISORDER 14B, ATRANSFERRINEMIA, COFFIN-SIRIS SYNDROME 3, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, FLOATING-HARBOR SYNDROME, LEBER OPTIC ATROPHY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MUCOPOLYSACCHARIDOSIS TYPE IIID, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, CARPENTER SYNDROME, NEUROFIBROMATOSIS, TYPE 1, LONG QT SYNDROME 1, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NESTOR-GUILLERMO PROGERIA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, LIPOPROTEIN LIPASE DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, MUCOPOLYSACCHARIDOSIS VII, HEMOCHROMATOSIS, TYPE 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, VENTRICULAR TACHYCARDIA, IDIOPATHIC, KEUTEL SYNDROME, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION, OGDEN SYNDROME, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, TUBEROUS SCLEROSIS-1, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, FRAGILE X SYNDROME, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, HYPOPLASTIC LEFT HEART SYNDROME 1, ?DYSTONIA 23, TYROSINEMIA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, ASPARTYLGLUCOSAMINURIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MENKES DISEASE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LATERAL MENINGOCELE SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, CARNEY COMPLEX, TYPE 1, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ?CARDIOMYOPATHY, DILATED, 2A, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, EHLERS-DANLOS SYNDROME, TYPE VI, NOONAN SYNDROME 7, DYSAUTONOMIA, FAMILIAL, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), CARDIOMYOPATHY, DILATED, 1V, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, RENAL GLUCOSURIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, AORTIC ANEURYSM, FAMILIAL THORACIC 4, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, DONNAI-BARROW SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, ATRIOVENTRICULAR SEPTAL DEFECT 5, NEUROFIBROMATOSIS-NOONAN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, MUCOPOLYSACCHARIDOSIS IS, LEOPARD SYNDROME 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PULMONARY HYPERTENSION, PRIMARY, 2, MYXOMA, INTRACARDIAC, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ?CARDIOMYOPATHY, HYPERTROPHIC, 19, SHPRINTZEN-GOLDBERG SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CARDIOMYOPATHY, DILATED, 1NN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MITRAL VALVE PROLAPSE 2, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, CARDIOMYOPATHY, HYPERTROPHIC, 12, HEMOCHROMATOSIS, TYPE 2B, PRIMARY PULMONARY HYPERTENSION, OCCIPITAL HORN SYNDROME, DENYS-DRASH SYNDROME, MARTSOLF SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, LONG QT SYNDROME 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, CARPENTER SYNDROME 2, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALFORMATION OF THE HEART, MALOUF SYNDROME, JOHANSON-BLIZZARD SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, GAUCHER DISEASE, TYPE I, FANCONI ANEMIA, COMPLEMENTATION GROUP C, ATRIAL FIBRILLATION, FAMILIAL, 7, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, SHWACHMAN-DIAMOND SYNDROME, NON-IMMUNE HYDROPS FETALIS, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, COMBINED HYPERLIPIDEMIA, FAMILIAL, MUSCULAR DYSTROPHY, CONGENITAL, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, DUCHENNE MUSCULAR DYSTROPHY, NOONAN SYNDROME 10, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, PULMONARY HYPERTENSION, PRIMARY, 4, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, BECKER MUSCULAR DYSTROPHY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, ALAGILLE SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, NEU-LAXOVA SYNDROME 1, LEFT VENTRICULAR NONCOMPACTION 1, WITH OR WITHOUT CONGENITAL HEART DEFECTS, CORNELIA DE LANGE SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?GLYCOGEN STORAGE DISEASE XV, ?PRUNE BELLY SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 6, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, CARDIOMYOPATHY, HYPERTROPHIC, 11, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SESAME SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GELEOPHYSIC DYSPLASIA 2, {VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2}, COMPLEMENT FACTOR I DEFICIENCY, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ULNAR-MAMMARY SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ?DIAMOND-BLACKFAN ANEMIA 12, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, GLYCOGEN STORAGE DISEASE 0, MUSCLE, HEART-HAND SYNDROME, SLOVENIAN TYPE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, GENITOPATELLAR SYNDROME, MUCOPOLYSACCHARIDOSIS IVA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ATRIAL FIBRILLATION, FAMILIAL, 6, LEOPARD SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 1, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, PULMONARY VENOOCCLUSIVE DISEASE 2, BASAL CELL NEVUS SYNDROME, GLYCOGEN STORAGE DISEASE IV, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, {METABOLIC SYNDROME, PROTECTION AGAINST}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, AORTIC VALVE DISEASE 2, FUCOSIDOSIS, LYMPHEDEMA, HEREDITARY, IA, GLUTAMINE DEFICIENCY, CONGENITAL, SADDAN, CARDIOMYOPATHY, HYPERTROPHIC, 3, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, CARDIOMYOPATHY, DILATED, 1HH, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 6, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, SICK SINUS SYNDROME 1, CALCIFICATION OF JOINTS AND ARTERIES, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, EHLERS-DANLOS SYNDROME, TYPE IV, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, BETHLEM MYOPATHY 1, ?DIAMOND-BLACKFAN ANEMIA 11, DIAMOND-BLACKFAN ANEMIA 10, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SERKAL SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 4, OSTEOGENESIS IMPERFECTA, TYPE I, JERVELL AND LANGE-NIELSEN SYNDROME 1, AL-RAQAD SYNDROME, POLYCYTHEMIA VERA, SOMATIC, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOTONIC DYSTROPHY 1, BURN-MCKEOWN SYNDROME, CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY, ATRIAL SEPTAL DEFECT 5, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, CARDIAC VALVULAR DYSPLASIA, X-LINKED, GLUCOCORTICOID RESISTANCE, MYOPATHY, MYOFIBRILLAR, 6, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, TANGIER DISEASE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, POLYGLUCOSAN BODY DISEASE, ADULT FORM, ALAGILLE SYNDROME 2, CORNELIA DE LANGE SYNDROME 1, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, CHILBLAIN LUPUS, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?ATRIAL FIBRILLATION 15, AYME-GRIPP SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, PHYTANIC ACID STORAGE DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, HAY-WELLS SYNDROME, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, OROFACIODIGITAL SYNDROME I, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, CUTIS LAXA, AD, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ?SNEDDON SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, HERMANSKY-PUDLAK SYNDROME 1, PARAGANGLIOMAS 4, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, APERT SYNDROME, LONG QT SYNDROME-3, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, RITSCHER-SCHINZEL SYNDROME 2, HETEROTAXY, VISCERAL, 5, THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, HEPATIC LIPASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ADAMS-OLIVER SYNDROME 6, CEREBROCOSTOMANDIBULAR SYNDROME, CARDIOMYOPATHY, DILATED, 1JJ, MUCOLIPIDOSIS III GAMMA, BARAITSER-WINTER SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRANSALDOLASE DEFICIENCY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, STICKLER SYNDROME, TYPE I, CORNELIA DE LANGE SYNDROME 3, BARDET-BIEDL SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, CARDIOMYOPATHY, HYPERTROPHIC, 22, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4, CARDIOMYOPATHY, DILATED, 1KK, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, NOONAN SYNDROME 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, ATRIAL FIBRILLATION, FAMILIAL, 13, ATRIAL FIBRILLATION, FAMILIAL, 12, TATTON-BROWN-RAHMAN SYNDROME, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), FEINGOLD SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, ATRIOVENTRICULAR SEPTAL DEFECT 4, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, ALKAPTONURIA, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, BARTTER SYNDROME, TYPE 1, SHORT QT SYNDROME 2, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, GM1-GANGLIOSIDOSIS, TYPE I, GLYCOGEN STORAGE DISEASE II, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, DENTAL ANOMALIES AND SHORT STATURE, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, COENZYME Q10 DEFICIENCY, PRIMARY, 5, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE XIII, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, CHILD SYNDROME, SECKEL SYNDROME 9, PSEUDOHYPOALDOSTERONISM, TYPE IIB, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, RENPENNING SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, CARDIOMYOPATHY, HYPERTROPHIC, 17, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, JOUBERT SYNDROME 18, HEMOCHROMATOSIS TYPE 1, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, DANON DISEASE, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, DIAMOND-BLACKFAN ANEMIA 7, HAMAMY SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUCOPOLYSACCHARIDOSIS IH/S, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ATRIAL FIBRILLATION, FAMILIAL, 10, CARDIOMYOPATHY, HYPERTROPHIC, 7, ADAMS-OLIVER SYNDROME 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, SMITH-KINGSMORE SYNDROME

CALM1, TSC2, DCPS, HBB, FGFR1, PROS1, TCTN3, LMNA, CUL3, WNT5A, GLI3, COL3A1, RPL5, GUSB, SLC5A2, VMA21, NSDHL, KCNH2, CLN3, ENG, DST, DTNA, WNK1, TGFBR2, ACTC1, CREBBP, HGD, DYNC2H1, JPH2, RASA1, F13A1, KL, ERBB3, COL6A2, GNAS, GSN, THRA, MRPL44, CBS, MTOR, TNNI3, THBD, KCNJ10, TAF6, CTSA, MEGF8, CBL, NR1I3, JAK2, NRXN1, NKX2-1, VPS33B, MIB1, BMP1, GALNT3, ROR2, MT-CYB, EFTUD2, NDUFA1, RYR1, TNNT2, XPNPEP3, TP63, KMT2A, DNMT3A, SMC3, NDUFS7, SLC12A1, GATA1, CAV3, BANF1, CCDC22, AGL, NDUFS3, SUFU, SMAD4, DVL3, CHST14, GDNF, CEP290, TPM2, PSEN2, LRP5, PCK1, PQBP1, SLC40A1, CHRNA1, AKT1, TANGO2, TWIST1, FANCA, HSPA9, RAF1, LAMP2, HAMP, ZFPM2, HNRNPK, PIGA, PIK3R2, FAT4, PTPN11, LPL, PDE4D, DMPK, MT-CO2, HLA-B, SRCAP, NDUFS4, BRAF, COL4A3, GMPPA, ZMPSTE24, SLC26A3, VIPAS39, SMAD6, CTCF, LRP2, MYH9, DHCR24, TF, FBP1, NR3C1, TSC1, PAX8, ACE, PEX5, NDUFS2, RPS26, TREX1, APOB, TRAIP, NAA10, F5, DDC, SEMA3E, CACNA1B, PSEN1, ASCC1, ECHS1, GJA1, IDUA, MYH7, COL6A1, DNASE1, WT1, GATA4, IKBKAP, BAG3, NEK8, DES, MT-CO3, PKHD1, SOS1, GALNS, DLD, DLL4, NRAS, CALR3, SF3B4, TNXB, SHOC2, TGFB2, DSG2, MAP2K2, NPPA, NME1, NOTCH1, MYCN, TTC37, GNS, EDNRA, NR2F2, UBR1, SGCG, GTPBP3, ESR1, EARS2, CRYAB, MYOM1, JUP, LIPC, KAT6B, GPX4, PRKG1, ACTA2, FGF23, LIG3, ADD1, KCNK3, PIGR, CALR, GNPTG, NDUFB3, MT-ATP6, FLT4, SMAD9, MEF2A, MYBPC3, DSC2, GMPPB, PEX11B, BMP2, MFAP5, SMC1A, AKAP9, SOX2, TXNL4A, NAGLU, MUT, APOA1, COQ9, EGFR, ITPA, WNK4, SNTA1, SNCA, SARS2, NF1, UMOD, KCNH1, MAF, HRAS, MYH6, NDUFV1, NODAL, ACTG1, ASXL1, B3GAT3, TGFB1, PGM1, GATA6, DDX58, SDHB, CACNA1C, NOTCH2, PLG, NDUFB9, NIPBL, ACTN4, WDR60, OFD1, PCSK9, AGA, CTLA4, FLNB, MGP, SMAD3, ADAM17, FCGR2A, HPGD, C10orf2, SKIV2L, ATIC, DYRK1B, F2, PKD1, SALL1, TPM1, BRCA2, CENPF, HEXB, MUC1, ATP6V1B2, AGT, PMM2, PPP1R3A, IRX5, NEB, ECE1, FMR1, CDKN1C, BCOR, PNPLA2, RPL15, FANCM, PIK3CA, LTBP4, JAG1, HADHA, SBDS, COL2A1, RBPJ, NUBPL, ACTA1, ACTB, SMARCA4, DSP, ELN, LZTR1, AKAP10, GPC3, IGF2, PIGT, NOS3, CHRM3, THPO, COL1A2, ABCA1, PLOD1, PROC, PLOD3, PSMB8, RPS17, DSE, C3, MT-ND3, FKBP14, TMEM173, SPRY2, TSHR, RBP4, TALDO1, RPS6KA3, STAMBP, RPL26, PAM16, SCN2B, KCNA5, SGSH, GLB1, MUC5B, HSD17B10, AGTR1, SDHD, SLC22A5, STAT1, GALNT14, VHL, COL4A1, ARL6, KIF1B, LTBP2, BRCA1, PRKAR1A, FN1, KLF1, FBN1, MT-ND1, EDN1, TERT, TTN, RPS19, PTEN, FGFR3, MTTP, POLG2, CFH, CFTR, EHMT1, GDF2, FAH, GBE1, SERPINC1, KCNQ1, SMARCB1, NOS2, MT-ND4, PUF60, PRKCSH, MED25, ATP7A, NTRK1, POMT1, FADD, RBCK1, GBA, MYPN, ABCC9, SERPINA6, CACNA1S, APP, CRB2, POLG, ACTN2, AGPAT2, HTRA1, NDUFB11, CD46, KIF1BP, FUCA1, CAV1, TAB2, COL1A1, CNBP, NT5E, GATA5, TBX3, PPARG, COL5A1, HIBCH, PHYH, DSG1, DPP6, RYR2, COL6A3, RAB3GAP2, CLASP1, NEU1, EFEMP2, WNT4, CECR1, LTBP3, EMD, UMPS, MT-ND2, PTCH1, SERPIND1, APOA2, FBLN5, WRN, IFT172, GLUL, LMNB1, PTGIS, CACNA1D, GYG1, GNAI2, GNB3, GLA, IFNG, CSRP3, AVPR2, PDGFRA, TGFBR1, ITIH4, EPHX2, MAX, NOTCH3, SEC23B, DCHS1, LRP6, CFB, BMPR2, TTR, RET, REN, CFHR3, SOX9, SNRPB, SGCA, MECP2, MYLK, SCN1B, IGFBP7, FOXF1, DMD, NUP155, LAMA4, EIF2AK4, KRAS, HADHB, NDUFS1, MRPL3, DTNBP1, CFI, LDLR, GYS1, ARSB, ACVRL1, PLN, GAA, FLNA, RAB23, HCCS, ATP1B1, SCN5A, AHCY, EXT2, PRKACA, FXN, AKT3, FGFR2, PACS1, LIFR, RPL11, FANCC, ATP5A1, FLNC, PEX19, PNP, HFE, SELE, CFHR1, MYH11, PHGDH, ANK2, HPS1, TPM3

BARAITSER-WINTER SYNDROME 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, MANNOSIDOSIS, BETA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, DONNAI-BARROW SYNDROME, MYOTONIC DYSTROPHY 1, GLUCOCORTICOID RESISTANCE, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, NEUROFIBROMATOSIS-NOONAN SYNDROME, 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}, HERMANSKY-PUDLAK SYNDROME 1, SUPRAVALVAR AORTIC STENOSIS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, FUCOSIDOSIS, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, RENAL TUBULAR DYSGENESIS, SADDAN, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATRIAL FIBRILLATION, FAMILIAL, 3, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ATRIAL FIBRILLATION, FAMILIAL, 7, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), LONG QT SYNDROME 6, FEINGOLD SYNDROME, ESSENTIAL HYPERTENSION, ATRANSFERRINEMIA, PRIMARY PULMONARY HYPERTENSION, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, GALACTOSIALIDOSIS, CARPENTER SYNDROME, HAY-WELLS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC, 4, JERVELL AND LANGE-NIELSEN SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SHORT QT SYNDROME 2, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, GM1-GANGLIOSIDOSIS, TYPE I, LONG QT SYNDROME 5, GLYCOGEN STORAGE DISEASE II, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MUCOPOLYSACCHARIDOSIS IH/S, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, TANGIER DISEASE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ATRIAL STANDSTILL 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, CARDIOMYOPATHY, DILATED, 1A, ROBINOW SYNDROME, PARKINSON DISEASE 4, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ASPARTYLGLUCOSAMINURIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CEROID LIPOFUSCINOSIS, NEURONAL, 3, NEUROFIBROMATOSIS, TYPE 1, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, WATSON SYNDROME, ?CARDIOMYOPATHY, DILATED, 2A, DANON DISEASE, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, JERVELL AND LANGE-NIELSEN SYNDROME 2, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ATRIAL FIBRILLATION, FAMILIAL, 6, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LOEYS-DIETZ SYNDROME 4, CARDIOMYOPATHY, HYPERTROPHIC, 7, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

KCNA5, CALM1, FUCA1, APP, TGFB2, KCNQ1, PPARG, SMARCA4, GJA1, APOA1, CBL, NOS2, NPPA, HEXB, GAA, DVL3, PIK3CA, CUL3, GNS, MYBPC3, NOS3, ARSB, STAT1, RAB23, GLB1, AGT, TGFB1, DMPK, SNCA, TNNI3, ESR1, AGTR1, VMA21, HLA-B, CTSA, KCNE2, MTOR, AKT1, FN1, KCNH2, CLN3, GTPBP3, KCNE1, MYH7, BRCA1, MRPL3, AKT3, NAGLU, MANBA, ERBB3, LDLR, GLA, MYCN, VPS33B, PCSK9, LRP2, PKD1, TF, ACTN2, AGA, NME1, FADD, HRAS, EGFR, NF1, SFTPB, CALR, ACTB, NTRK1, FGFR3, NR3C1, NEU1, TP63, CFTR, IDUA, GNAI2, PLG, LAMP2, HPS1, RAF1

ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, PARKINSON DISEASE 4, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SHORT QT SYNDROME 2, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, JERVELL AND LANGE-NIELSEN SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, MENKES DISEASE, OCULODENTODIGITAL DYSPLASIA, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ADAMS-OLIVER SYNDROME 6, CEROID LIPOFUSCINOSIS, NEURONAL, 3, ATRIAL FIBRILLATION, FAMILIAL, 3, LIPOPROTEIN LIPASE DEFICIENCY, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HEMOCHROMATOSIS, TYPE 2B, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ATRANSFERRINEMIA, {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}, OCCIPITAL HORN SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, CARDIOFACIOCUTANEOUS SYNDROME, HEMOCHROMATOSIS, TYPE 4, LONG QT SYNDROME 14, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, DANON DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, TANGIER DISEASE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, GALACTOSIALIDOSIS, CORNELIA DE LANGE SYNDROME 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, TF, KCNQ1, GJA1, APOA1, CBL, MAP2K2, HAMP, IGF2, NTRK1, CTSA, LPL, ATP7A, SLC40A1, PSEN1, EDN1, FN1, APOB, KMT2A, PACS1, CFTR, LDLR, VPS33B, PCSK9, AVPR2, APP, AKT1, SNCA, EGFR, ACTN2, CALR, DLL4, LAMP2, VIPAS39, NR3C1, CLN3, PTEN

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, NON-IMMUNE HYDROPS FETALIS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, MUCOPOLYSACCHARIDOSIS IH/S, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, OMODYSPLASIA 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, GM1-GANGLIOSIDOSIS, TYPE I, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS IS, LONG QT SYNDROME 14, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, TANGIER DISEASE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, GALACTOSIALIDOSIS, OSTEOGENESIS IMPERFECTA, TYPE II, LOEYS-DIETZ SYNDROME 4, GAUCHER DISEASE, TYPE IIIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, MUCOPOLYSACCHARIDOSIS IVA, GAUCHER DISEASE, TYPE I, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

ACTA1, CALM1, GPC3, GLB1, APP, GPC6, APOA1, COL1A1, NOTCH1, TGFB1, CTSA, STAT1, TGFB2, GUSB, IDS, HEXB, BMP2, NOS3, FN1, IDUA, CBL, MRPL3, NAGLU, GBA, IFNG, GLA, LRP2, SGSH, NEU1, GALNS, EGFR, GNS, ARSB

VERHEIJ SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, {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}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, CALCIFICATION OF JOINTS AND ARTERIES, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, HEMOCHROMATOSIS, TYPE 2A, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OMODYSPLASIA 1, HAJDU-CHENEY SYNDROME, ESSENTIAL HYPERTENSION, HEMOCHROMATOSIS, TYPE 2B, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, ROBINOW SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BURN-MCKEOWN SYNDROME, COMBINED HYPERLIPIDEMIA, FAMILIAL, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ATRIAL SEPTAL DEFECT 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, PULMONARY VENOOCCLUSIVE DISEASE 1, ALAGILLE SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, LIPOPROTEIN LIPASE DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 6, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HETEROTAXY, VISCERAL, 2, AUTOSOMAL, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GELEOPHYSIC DYSPLASIA 2, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, ULNAR-MAMMARY SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, MARFAN LIPODYSTROPHY SYNDROME, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CODAS SYNDROME, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, SOX9, TGFBR1, FLNA, PPARG, APOB, APOA1, COL1A1, SMAD4, ATP5A1, DVL3, GPC3, PUF60, AKT1, TGFB1, NT5E, COL1A2, LPL, STAT1, BMPR2, TBX3, GDNF, SKIV2L, EDNRA, ANK2, MT-CO2, GATA5, BMP2, PTPN11, C3, FN1, GPC6, TXNL4A, KIF1BP, LONP1, ERBB3, GATA6, JUP, GATA4, NOTCH2, FBN1, CLASP1, APP, RET, TWIST1, PKHD1, HFE, NOTCH1, EGFR, SELE, ACTA2, PTEN, SMAD3, UMOD, HAMP, CD46, NUBPL, CFC1, RBPJ, MTOR, HFE2

CLOVE SYNDROME, SOMATIC, COMBINED HYPERLIPIDEMIA, FAMILIAL, TUBEROUS SCLEROSIS 2, LIPOPROTEIN LIPASE DEFICIENCY, POLYCYTHEMIA VERA, SOMATIC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, THROMBOCYTHEMIA 3, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, ATRANSFERRINEMIA, PROTEUS SYNDROME, SOMATIC

LPL, TF, IFNG, APOB, CALR, JAK2, AKT1, PIK3CA

LOEYS-DIETZ SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, MENKES DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LONG QT SYNDROME 15, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, MYHRE SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LOEYS-DIETZ SYNDROME 3, YUNIS-VARON SYNDROME, OCCIPITAL HORN SYNDROME, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, LONG QT SYNDROME 14, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SUPRAVALVAR AORTIC STENOSIS, TUBEROUS SCLEROSIS 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, RUBINSTEIN-TAYBI SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, CBL, SPRY2, CALR, ATP7A, ECHS1, IFNG, CFTR, SMAD3, CREBBP, CLASP1, SMAD4, HLA-B, FIG4, TGFBR1, AKT1, NTRK1, HRAS, GTPBP3

ALPORT SYNDROME, AUTOSOMAL DOMINANT, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ALPORT SYNDROME, ALPORT SYNDROME, AUTOSOMAL RECESSIVE

COL4A3, COL4A1, COL4A4, COL4A5

BARAITSER-WINTER SYNDROME 1, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, AORTIC ANEURYSM, FAMILIAL THORACIC 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MEDULLARY CYSTIC KIDNEY DISEASE 1, SUPRAVALVAR AORTIC STENOSIS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 10, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, LOEYS-DIETZ SYNDROME 3, PULMONARY HYPERTENSION, PRIMARY, 2, MYXOMA, INTRACARDIAC, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPERTHYROIDISM, NONAUTOIMMUNE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ESSENTIAL HYPERTENSION, CARDIOMYOPATHY, HYPERTROPHIC, 18, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, NAXOS DISEASE, ATRANSFERRINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LONG QT SYNDROME 14, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CARDIOMYOPATHY, HYPERTROPHIC, 4, MYOPATHY, MYOFIBRILLAR, 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, LONG QT SYNDROME 15, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, NON-IMMUNE HYDROPS FETALIS, POLYCYTHEMIA VERA, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, BARTTER SYNDROME, TYPE 1, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, COMBINED HYPERLIPIDEMIA, FAMILIAL, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, DUCHENNE MUSCULAR DYSTROPHY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SITOSTEROLEMIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, TANGIER DISEASE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, BECKER MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PULMONARY VENOOCCLUSIVE DISEASE 1, VENTRICULAR SEPTAL DEFECT 1, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, PSEUDOHYPOALDOSTERONISM, TYPE IIB, PULMONARY HYPERTENSION, PRIMARY, 3, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, TUBEROUS SCLEROSIS-1, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, CARDIOMYOPATHY, DILATED, 1A, ROBINOW SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 6, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, GELEOPHYSIC DYSPLASIA 2, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CARNEY COMPLEX, TYPE 1, MYHRE SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, MARFAN LIPODYSTROPHY SYNDROME, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, CARDIOMYOPATHY, DILATED, 1V, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, CARDIOMYOPATHY, HYPERTROPHIC, 12, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, PROTEUS SYNDROME, SOMATIC

CALM1, PDE4D, CAV1, ACTB, PSEN1, ANK2, MUC1, F2, AGT, PPARG, NOTCH3, PRKAR1A, DSG1, RYR2, DES, PIK3CA, PKHD1, TGFBR2, CREBBP, GNAI2, SF3B4, ACTA1, SOX9, DSG2, ERBB3, ATP1B1, NOS3, RYR1, EDNRA, IFNG, CALR, CBL, JAK2, JUP, NKX2-1, VPS33B, TGFBR1, C3, UMOD, TF, TSHR, PRKG1, STAMBP, SLC26A3, LRP6, GALNT14, BMPR2, CAV3, TTR, APP, GLB1, GJA1, SMAD4, DVL3, SLC22A5, SMAD9, ABCG8, MYBPC3, CSRP3, PSEN2, DMD, BMP2, FN1, CFTR, APOA1, EGFR, ATP5A1, WNK4, EDN1, ACTA2, AKAP10, CHRM3, PLN, MYH6, MYH11, NOS2, ACTG1, KCNJ10, AKT1, ABCG5, LPL, GATA4, KLF1, MYH9, TGFB1, ESR1, PRKACA, GATA5, HLA-B, NOTCH1, SOS1, CACNA1S, FBN1, RET, PEX19, HFE, HRAS, LRP2, ACTN2, SELE, ADAM17, SMAD3, NR3C1, TSC1, SLC12A1, KIF1BP, ATIC

BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AD, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, CHILBLAIN LUPUS, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 5, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, NEPHRONOPHTHISIS 18, MELNICK-NEEDLES SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ROBERTS SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 2, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, STICKLER SYNDROME, TYPE I, {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}, SC PHOCOMELIA SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MALFORMATION OF THE HEART, ?DYSTONIA 23, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, MEDULLARY CYSTIC KIDNEY DISEASE 1, SUPRAVALVAR AORTIC STENOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MUCOLIPIDOSIS II ALPHA/BETA, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ESTROGEN RESISTANCE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, NOONAN SYNDROME 4, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATRIAL FIBRILLATION, FAMILIAL, 3, MENKES DISEASE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, JERVELL AND LANGE-NIELSEN SYNDROME 1, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), FEINGOLD SYNDROME, HETEROTOPIA, PERIVENTRICULAR, ESSENTIAL HYPERTENSION, CARDIOMYOPATHY, HYPERTROPHIC, 18, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, EHLERS-DANLOS SYNDROME, TYPE 3, {METABOLIC SYNDROME, PROTECTION AGAINST}, LUJAN-FRYNS SYNDROME, GLYCOGEN STORAGE DISEASE II, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, COFFIN-SIRIS SYNDROME 3, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ATRIOVENTRICULAR SEPTAL DEFECT 4, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OCCIPITAL HORN SYNDROME, ADAMS-OLIVER SYNDROME 3, NOONAN SYNDROME 9, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MARTSOLF SYNDROME, FLOATING-HARBOR SYNDROME, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, CARDIOMYOPATHY, HYPERTROPHIC, 4, MYOPATHY, MYOFIBRILLAR, 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MYHRE SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, MUCOLIPIDOSIS III ALPHA/BETA, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, HAY-WELLS SYNDROME, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, ATRIAL FIBRILLATION, FAMILIAL, 7, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, OROTIC ACIDURIA, POLYCYTHEMIA VERA, SOMATIC, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SHORT QT SYNDROME 2, CORNELIA DE LANGE SYNDROME 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, THROMBOCYTHEMIA 3, ATRIAL SEPTAL DEFECT 5, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, GM1-GANGLIOSIDOSIS, TYPE I, MUSCULAR DYSTROPHY, CONGENITAL, OCULOECTODERMAL SYNDROME, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, COPROPORPHYRIA, HARDEROPORPHYRIA, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, DUCHENNE MUSCULAR DYSTROPHY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CORNELIA DE LANGE SYNDROME 3, NOONAN SYNDROME 10, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, ALAGILLE SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, RESTRICTIVE DERMOPATHY, LETHAL, HEMOCHROMATOSIS, TYPE 4, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, HYPERTHYROIDISM, NONAUTOIMMUNE, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, MYOTONIC DYSTROPHY 2, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, TANGIER DISEASE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, ANDERSEN SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, BECKER MUSCULAR DYSTROPHY, MAY-HEGGLIN ANOMALY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PULMONARY VENOOCCLUSIVE DISEASE 1, VENTRICULAR SEPTAL DEFECT 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, EPSTEIN SYNDROME, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ALAGILLE SYNDROME 2, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, BECKWITH-WIEDEMANN SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP L, CARDIOMYOPATHY, DILATED, 1X, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, CARDIOMYOPATHY, DILATED, 1A, ROBINOW SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, DILATED CARDIOMYOPATHY 1DD, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, GELEOPHYSIC DYSPLASIA 2, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, CARDIOMYOPATHY, DILATED, 1II, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ATRIOVENTRICULAR SEPTAL DEFECT 5, CARDIOMYOPATHY, DILATED, 1U, ?CARDIOMYOPATHY, DILATED, 2A, DIAMOND-BLACKFAN ANEMIA 6, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, PRIMARY PULMONARY HYPERTENSION, HEMOCHROMATOSIS TYPE 1, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MECKEL SYNDROME 4, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, HEART-HAND SYNDROME, SLOVENIAN TYPE, MUCOLIPIDOSIS III GAMMA, MARFAN LIPODYSTROPHY SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 9, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 2, ATRIAL FIBRILLATION, FAMILIAL, 6, KABUKI SYNDROME 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, CARDIOMYOPATHY, DILATED, 1V, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, CARDIOMYOPATHY, HYPERTROPHIC, 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, KCNA5, TSC2, RPL5, GNPTAB, CAV1, TREX1, SYNE1, CLN3, TAB2, COL1A1, CNBP, ACTB, GNAS, COL1A2, MUC1, AGT, PPARG, HIBCH, EDN1, KCNH2, APOB, RYR2, PLG, ESCO2, ARSB, CLASP1, GATA4, PNPLA2, NEU1, DES, CACNA1B, SOS1, NOTCH1, EFEMP2, JAG1, SMAD4, ACTC1, HSD17B10, CREBBP, UMPS, COL2A1, DYNC2H1, RAF1, NUBPL, ACTA1, ACE, EDNRA, RASA1, TGFB2, SMARCA4, ERBB3, FKTN, MAP2K2, LZTR1, NME1, IGF2, PIGT, NOS3, THRA, LMNB1, FKRP, KAT6A, RYR1, FGFR1, MYBPC3, HNRNPK, CPOX, AGXT, ABCA1, JAK2, GTPBP3, ESR1, CBL, GNAI2, LMNA, PSEN1, IFNG, EFTUD2, JUP, AVPR2, GLIS3, CRYAB, TGFBR1, DSE, BMP1, PRKG1, RBPJ, TMEM173, SPRY2, TSHR, TNNT2, SMC1A, FGF23, TP63, FANCD2, SMC3, BMPR2, GATA1, CAV3, GPC3, GLB1, GNPTG, GJA1, SOX9, SUFU, RAB3GAP2, SDHD, FLT4, C3, CEP290, STAT1, PSEN2, LRP5, KCNJ2, DMD, VHL, KIF1B, CASQ2, SLC40A1, BMP2, FN1, AKAP9, KRAS, WNT5A, CFTR, APOA1, LDLR, LRP2, FBN1, TRPM4, NOS2, VPS33B, AKT1, SNCA, CDKN1C, TTN, ACTA2, EIF2AK4, PEX5, F13A1, NPPA, MTTP, PLN, GAA, UMOD, FLNA, KCNQ1, SMARCB1, NDUFS1, HCCS, B3GAT3, TGFB1, ATP1B1, PTPN11, SOS2, GATA6, KMT2D, ATP7A, PKD1, EXT2, GATA5, HLA-B, SRCAP, AKT3, SELE, FADD, CEP57, MED12, FGFR2, ACTN4, COL4A3, SGCG, GLA, MYCN, GPX4, PCSK9, APP, CTLA4, LRP6, HRAS, FANCL, EGFR, ACTN2, MYH9, TMEM43, CALR, SMAD3, NOTCH2, CD46, TNNI3, CEP83, PDE4D, HFE

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, ROBINOW SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NOONAN SYNDROME 4, OMODYSPLASIA 1, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ESSENTIAL HYPERTENSION, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, LYMPHEDEMA, HEREDITARY, IA, EHLERS-DANLOS SYNDROME, TYPE 3, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ATRANSFERRINEMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, DENYS-DRASH SYNDROME, STICKLER SYNDROME, TYPE I, {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, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, MEDULLARY CYSTIC KIDNEY DISEASE 1, ?TETRA-AMELIA SYNDROME, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, RENAL TUBULAR DYSGENESIS, AORTIC VALVE DISEASE 1, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SERKAL SYNDROME, PROTEUS SYNDROME, SOMATIC

SERPINC1, GPC3, F2, APP, GPC6, PROC, NOS2, F5, FLT4, TGFB1, WNT3, NOS3, MUC1, AGT, MUC5B, EXT2, BMP2, NOTCH1, AKT1, FN1, APOB, WNT5A, IFNG, WT1, COL1A1, TF, SOS1, ROR2, EGFR, SELE, WNT4, PROS1, COL2A1, LRP6, PTEN

BARAITSER-WINTER SYNDROME 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, PARKINSON DISEASE 4, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, GLUTAMINE DEFICIENCY, CONGENITAL, CARDIOMYOPATHY, DILATED, 3B, HAJDU-CHENEY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, DONNAI-BARROW SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, DUCHENNE MUSCULAR DYSTROPHY, {METABOLIC SYNDROME, PROTECTION AGAINST}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, {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}, ESTROGEN RESISTANCE, ATRIAL FIBRILLATION, FAMILIAL, 9, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ALAGILLE SYNDROME 2, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CARDIOMYOPATHY, DILATED, 1U, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, PROTEUS SYNDROME, SOMATIC

CAV3, APOB, ACTB, TGFB1, NOTCH2, GLUL, DMD, HLA-B, PSEN1, AKT1, FKRP, ARSB, PCSK9, APP, C3, KCNJ2, FN1, SNCA, LRP2, MTTP, ESR1, GNAI2

BARAITSER-WINTER SYNDROME 1, WOLFF-PARKINSON-WHITE SYNDROME, COCKAYNE SYNDROME, TYPE A, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, HEMOCHROMATOSIS TYPE 1, NON-IMMUNE HYDROPS FETALIS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, COCKAYNE SYNDROME, TYPE B, PULMONARY VENOOCCLUSIVE DISEASE 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, WERNER SYNDROME, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSAUTONOMIA, FAMILIAL, CORNELIA DE LANGE SYNDROME 3, LEOPARD SYNDROME 3, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, FAMILIAL MEDITERRANEAN FEVER, AR, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, NOONAN SYNDROME 9, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, MYXOMA, INTRACARDIAC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, RENAL TUBULAR DYSGENESIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, CARDIOMYOPATHY, HYPERTROPHIC, 3, ATRIAL SEPTAL DEFECT 5, ADAMS-OLIVER SYNDROME 5, MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE), JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, OCULOECTODERMAL SYNDROME, ESSENTIAL HYPERTENSION, CARDIOMYOPATHY, HYPERTROPHIC, 18, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AORTIC ANEURYSM, FAMILIAL THORACIC 8, EHLERS-DANLOS SYNDROME, TYPE 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 6, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 4, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ADAMS-OLIVER SYNDROME 3, PSEUDOHYPOALDOSTERONISM, TYPE IID, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, ?GIANT AXONAL NEUROPATHY 2, AUTOSOMAL DOMINANT, LEBER OPTIC ATROPHY, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 4, KOOLEN-DE VRIES SYNDROME, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, MALOUF SYNDROME, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, LONG QT SYNDROME 15, JOHANSON-BLIZZARD SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, HAY-WELLS SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, WOODHOUSE-SAKATI SYNDROME, PARAGANGLIOMAS 3, GLYCOGEN STORAGE DISEASE 0, MUSCLE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HEART-HAND SYNDROME, SLOVENIAN TYPE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, KLEEFSTRA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, NOONAN SYNDROME 4, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, MUSCULAR DYSTROPHY, CONGENITAL, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, TRICHOHEPATOENTERIC SYNDROME 1, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEFT VENTRICULAR NONCOMPACTION 7, CARDIOMYOPATHY, HYPERTROPHIC 6, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, BALLER-GEROLD SYNDROME, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, NOONAN SYNDROME 10, PRIMARY PULMONARY HYPERTENSION, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ATRIAL SEPTAL DEFECT 2, RESTRICTIVE DERMOPATHY, LETHAL, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MYOTONIC DYSTROPHY 2, GENITOPATELLAR SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PERLMAN SYNDROME, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, VENTRICULAR SEPTAL DEFECT 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MALFORMATION OF THE HEART, OGDEN SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CORNELIA DE LANGE SYNDROME 1, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, CARDIOMYOPATHY, HYPERTROPHIC, 11, CLOVE SYNDROME, SOMATIC, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PHYTANIC ACID STORAGE DISEASE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, CARNEY COMPLEX, TYPE 1, MYHRE SYNDROME, OROFACIODIGITAL SYNDROME I, KARTAGENER SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, LONG QT SYNDROME 14, LOEYS-DIETZ SYNDROME 4, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, CILIARY DYSKINESIA, PRIMARY, 20, AORTIC ANEURYSM, FAMILIAL THORACIC 7, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, PSEUDOHYPOALDOSTERONISM, TYPE 2, DIAMOND-BLACKFAN ANEMIA 7, PARAGANGLIOMAS 4, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, PALLISTER-HALL SYNDROME, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CARDIOMYOPATHY, DILATED, 1II, HETEROTOPIA, PERIVENTRICULAR, AU-KLINE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, DYRK1B, APOB, DCAF8, TSC2, CNBP, ACTB, NDUFA11, CUL3, CACNA1C, RPL5, KLHL3, NDUFA1, AGT, PCCB, PPARG, SDHA, PPP1R3A, PRKAR1A, DNAH14, DNAH5, RECQL4, POLR1A, KDM6A, SOS1, PIGC, PLG, ENG, DST, ERCC6, KMT2C, PEX7, NDUFB11, PIK3CA, NDUFV2, NOTCH1, EFEMP2, MEFV, DNAI1, EMD, TGFBR2, DNAI2, NAA10, CREBBP, DLD, PRKAG2, RBCK1, GNAI2, DYNC2H1, SF3B4, RAF1, ACTA1, SHOC2, TPM1, CHD7, ACTC1, KRAS, ERBB3, LZTR1, NDUFAF1, ATP1B1, PIGT, NOS3, THRA, TTC37, TPM3, SDHC, SDHB, TAF6, LMNA, MECP2, GTPBP3, CBL, IKBKAP, CCDC114, GYS1, KAT6B, CRYAB, MIB1, NDUFS2, PRKG1, MYBPC3, RBPJ, MAX, MT-CYB, ABCD4, MYH6, FBXL4, TP63, KMT2A, BRAF, SLC26A3, SMC3, BMPR2, GATA1, SALL1, DIS3L2, TGFBR1, AGL, NDUFB3, DNAH8, SMAD4, SDHD, UBR1, MYLK, TGFB2, NDUFS4, NDUFS7, VHL, ASCC1, SNRPB, BMP2, BRCA1, AKT1, AKAP9, KANSL1, FHL1, CFTR, TAF2, EGFR, NDUFS6, MT-ND1, SPRY2, GLI3, ERCC8, DNAH1, CDKN1C, PTEN, PLN, MT-ND3, AGPAT2, NDUFV1, NDUFS3, DPM1, FLNA, SMARCB1, NDUFS1, HNRNPK, TAB2, ACTG1, PEX2, MT-ND4, PIK3R2, TGFB1, WRN, MED25, GATA4, KMT2D, STAT1, ESR1, PRKACA, GATA5, PTPN11, AKT3, FADD, NDUFB9, ACTN4, RPL11, OFD1, MT-ND5, CLASP1, FLNC, MT-ND2, MEF2A, MT-ND4L, KAT6A, HRAS, POLG, PIGA, EPOR, SMAD3, NR3C1, TSC1, SOS2, MTOR, DCAF17

ATRIOVENTRICULAR SEPTAL DEFECT 3, BRUGADA SYNDROME 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, ATRIAL FIBRILLATION, FAMILIAL, 7, ATRIAL FIBRILLATION, FAMILIAL, 13, HYPOPLASTIC LEFT HEART SYNDROME 1, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, VENTRICULAR SEPTAL DEFECT 3, CARDIOMYOPATHY, DILATED, 1E, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, DUCHENNE MUSCULAR DYSTROPHY, ATRIAL FIBRILLATION, FAMILIAL, 11, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, LONG QT SYNDROME 12, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), NAXOS DISEASE, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 9, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, ATRIAL SEPTAL DEFECT 2, SICK SINUS SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, LONG QT SYNDROME 14, ATRIAL FIBRILLATION, FAMILIAL, 9, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, LONG QT SYNDROME-3, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, VENTRICULAR SEPTAL DEFECT 1, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MYOPATHY, DISTAL, TATEYAMA TYPE, CARDIOMYOPATHY, HYPERTROPHIC, 22, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4, CARDIOMYOPATHY, DILATED, 1KK, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ATRIAL FIBRILLATION, FAMILIAL, 10, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA

ACTA1, KCNA5, CAV3, CALM1, GJA1, GJA5, NKX2-5, NME1, ATP1B1, SCN5A, GATA4, SCN1B, DMD, SCN4B, RYR2, DSP, MYPN, DSC2, VPS33B, JUP, KCNJ2, EGFR, ACTN2, ANK2, SNTA1, PKP2

LONG QT SYNDROME 12, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, WOLFRAM SYNDROME, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, PULMONARY VENOOCCLUSIVE DISEASE 1, CARASIL SYNDROME, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, MEDULLARY CYSTIC KIDNEY DISEASE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 10, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CARDIOMYOPATHY, DILATED, 1E, RENAL TUBULAR DYSGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATRIAL FIBRILLATION, FAMILIAL, 3, BRUGADA SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, MEND SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, CARDIOMYOPATHY, DILATED, 3B, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, CARDIOMYOPATHY, HYPERTROPHIC, 18, [BILIRUBIN, SERUM LEVEL OF, QTL1], AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CARDIOMYOPATHY, HYPERTROPHIC, 25, EHLERS-DANLOS SYNDROME, TYPE 3, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, ATRANSFERRINEMIA, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, HYPERTROPHIC, 4, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, HAY-WELLS SYNDROME, LONG QT SYNDROME 1, LYSYL HYDROXYLASE 3 DEFICIENCY, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, PELGER-HUET ANOMALY, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, GLYCOGEN STORAGE DISEASE IA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, HEMOCHROMATOSIS, TYPE 4, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MYOPATHY, MYOFIBRILLAR, 4, VENTRICULAR TACHYCARDIA, IDIOPATHIC, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, BARDET-BIEDL SYNDROME 17, HEMOCHROMATOSIS TYPE 1, TRIMETHYLAMINURIA, TUBEROUS SCLEROSIS-1, FRAGILE X SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, SINGLETON-MERTEN SYNDROME 2, LIPOPROTEIN LIPASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MENKES DISEASE, LATERAL MENINGOCELE SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, CARNEY COMPLEX, TYPE 1, EHLERS-DANLOS SYNDROME, TYPE VI, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, CARDIOMYOPATHY, DILATED, 1V, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, AORTIC ANEURYSM, FAMILIAL THORACIC 4, GLUTAMINE DEFICIENCY, CONGENITAL, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, DONNAI-BARROW SYNDROME, CHIME SYNDROME, MYOTONIC DYSTROPHY 1, MELNICK-NEEDLES SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ATRIOVENTRICULAR SEPTAL DEFECT 5, LEOPARD SYNDROME 3, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, STORMORKEN SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PULMONARY HYPERTENSION, PRIMARY, 2, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, SHPRINTZEN-GOLDBERG SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5, NOONAN SYNDROME 7, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, CARDIOMYOPATHY, DILATED, 1NN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 12, HEMOCHROMATOSIS, TYPE 2B, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, CHOANAL ATRESIA AND LYMPHEDEMA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, PRIMARY PULMONARY HYPERTENSION, OCCIPITAL HORN SYNDROME, LONG QT SYNDROME 14, MYOPATHY, MYOFIBRILLAR, 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALFORMATION OF THE HEART, MALOUF SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, WHITE-SUTTON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, PSEUDOHYPOALDOSTERONISM, TYPE 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, COMBINED HYPERLIPIDEMIA, FAMILIAL, MUSCULAR DYSTROPHY, CONGENITAL, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, DUCHENNE MUSCULAR DYSTROPHY, NOONAN SYNDROME 10, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, BECKER MUSCULAR DYSTROPHY, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ELLIS-VAN CREVELD SYNDROME, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, CORNELIA DE LANGE SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, ?PRUNE BELLY SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, SESAME SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, GELEOPHYSIC DYSPLASIA 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, ULNAR-MAMMARY SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, HEART-HAND SYNDROME, SLOVENIAN TYPE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 6, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, DIAMOND-BLACKFAN ANEMIA 1, CARDIOMYOPATHY, DILATED, 1U, BASAL CELL NEVUS SYNDROME, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, {METABOLIC SYNDROME, PROTECTION AGAINST}, CHILD SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, LYMPHEDEMA, HEREDITARY, IA, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, CARDIOMYOPATHY, HYPERTROPHIC, 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SITOSTEROLEMIA, ALPORT SYNDROME, AUTOSOMAL DOMINANT, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, ESSENTIAL HYPERTENSION, DIAMOND-BLACKFAN ANEMIA 6, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, SICK SINUS SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, OSTEOGENESIS IMPERFECTA, TYPE I, JERVELL AND LANGE-NIELSEN SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, CORNELIA DE LANGE SYNDROME 3, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ATRIAL SEPTAL DEFECT 5, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, OSTEOGENESIS IMPERFECTA, TYPE II, CARDIAC VALVULAR DYSPLASIA, X-LINKED, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, BERGER DISEASE, TANGIER DISEASE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, ALAGILLE SYNDROME 2, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, CHILBLAIN LUPUS, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, BARDET-BIEDL SYNDROME 2, MYHRE SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, CUTIS LAXA, AD, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PALLISTER-HALL SYNDROME, HERMANSKY-PUDLAK SYNDROME 1, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, LONG QT SYNDROME-3, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ADAMS-OLIVER SYNDROME 6, GLUCOCORTICOID RESISTANCE, BARAITSER-WINTER SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TRANSALDOLASE DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LYMPHEDEMA, HEREDITARY, III, BARDET-BIEDL SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, PETERS-PLUS SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, RUBINSTEIN-TAYBI SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, MYXOMA, INTRACARDIAC, ATRIAL FIBRILLATION, FAMILIAL, 13, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, TUBEROUS SCLEROSIS 2, GALACTOSIALIDOSIS, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, BARTTER SYNDROME, TYPE 1, SHORT QT SYNDROME 2, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, GM1-GANGLIOSIDOSIS, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, ATRIAL FIBRILLATION, FAMILIAL, 7, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, PSEUDOHYPOALDOSTERONISM, TYPE IIB, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, RENPENNING SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 17, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MECKEL SYNDROME 4, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, TRICHOHEPATOENTERIC SYNDROME 2, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ATRIAL FIBRILLATION, FAMILIAL, 10, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, SMITH-KINGSMORE SYNDROME

CALM1, DHCR24, TSC2, DSG1, DLL4, CAV1, TREX1, EDNRA, PROS1, PDE4D, COL1A1, PKD1, PRKACA, ACTB, LBR, TTR, GNAS, CENPF, G6PC, PSEN1, CACNA1C, MUC1, KLF1, F2, TBX3, AGT, TP63, ARSB, PPARG, PIGN, HBB, ASCC1, PRKAR1A, IGF2, EDN1, KCNH2, POLR1A, G6PC3, PIGC, PTPN14, ALG1, PIGO, CLASP1, PTRF, PNPLA2, DES, HPGD, PIK3CA, PKHD1, SOS1, NOTCH3, BBS2, EMD, TGFBR2, ACTC1, XYLT2, WFS1, CPT1A, UGT1A1, PIGM, GNAI2, ATP1B1, RBPJ, SF3B4, LDB3, HTRA1, ACTA1, ACE, RASA1, TPM1, SCN1B, MYOM1, LRP6, DSG2, ERBB3, CBL, ELN, BRAF, EGFR, LZTR1, MTTP, NME1, GPC3, PGM1, AGTR1, FLT4, PIK3R2, GLUL, VMA21, LMNB1, EARS2, CYP3A5, PIEZO1, PIGT, CBS, RYR1, FGFR1, CHRM3, NOS3, NR2F2, EVC2, SYNE1, APOB, PLN, ABCA1, JAK2, CALR, PLOD1, ESR1, DSP, PLOD3, COL2A1, NR1I3, TALDO1, IFNG, KCNMB1, JUP, CYP4F22, NKX2-1, FMR1, VPS33B, TGFBR1, PRKG1, MYBPC3, GLI3, UMOD, FKBP14, TF, TMEM173, ABCD4, B3GLCT, ACTA2, ABCG5, SMC1A, FGF23, AVPR2, RPS6KA3, ENPP1, STAMBP, POMT2, ADD1, SLC26A3, SMC3, GALNT14, BMPR2, KCNA5, EVC, CAV3, BANF1, RET, GLB1, AGL, VHL, GJA1, SHOC2, PRICKLE2, HSD17B10, NSDHL, POGZ, SMAD4, DVL3, SLC22A5, SGCA, TMCO1, JPH2, CEP290, MYLK, PSEN2, LMNA, DMD, SOX9, PQBP1, AARS2, CASQ2, SLC40A1, BMP2, CRB2, CTSA, MTOR, C3, AKT1, KRAS, FMO3, ANK2, MRPL3, AKAP10, DDX58, NOTCH2, APOA1, LDLR, SEC63, LRP2, FBN1, CHRNA1, HFE, RAF1, HNRNPK, POMT1, SPRY2, WNK4, SNTA1, FN1, SNCA, PIGR, SLC37A4, FXN, ARL6, RPS19, PTEN, NPPA, HAMP, TSC1, LZTFL1, CFTR, RYR2, CENPE, F5, MYH6, GDF2, AGPAT2, ABCC6, PIGV, CLN3, SERPINC1, PIGA, FLNA, KCNQ1, SMAD3, FZD6, FHL1, NOS2, SEPN1, TAB2, ACTG1, DPM1, CUL3, DHCR7, PIGL, XYLT1, KCNJ10, PTPN11, LPL, TSHR, GATA6, ALG10, DTNBP1, ATP7A, TGFB1, DMPK, STAT1, CD46, MT-CO2, PTGIS, GATA5, EBP, HLA-B, NOTCH1, PLG, ABCG8, FADD, CEP57, DST, NDUFB9, SCN5A, PTCH1, CREBBP, ACTN4, SEC23B, COL4A3, SGCG, RPL11, GATA4, ZMPSTE24, CACNA1S, ATP5A1, APP, PEX19, SMAD9, SYNE2, HRAS, PEX16, COL1A2, DOLK, EPHX1, ACTN2, MYH9, SELE, ADAM17, TCAP, CSRP3, MYH11, NR3C1, RPL5, EXT2, SLC12A1, STIM1, KIF1BP, TRDN, SKIV2L, ATIC

BARAITSER-WINTER SYNDROME 1, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AD, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 5, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MYOTONIC DYSTROPHY 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, ZIMMERMANN-LABAND SYNDROME 1, ATRIAL SEPTAL DEFECT 6, SUPRAVALVAR AORTIC STENOSIS, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, AORTIC VALVE DISEASE 2, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, RUBINSTEIN-TAYBI SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ADAMS-OLIVER SYNDROME 5, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, HYPERTHYROIDISM, NONAUTOIMMUNE, ATRIAL FIBRILLATION, FAMILIAL, 7, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, ESSENTIAL HYPERTENSION, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, EHLERS-DANLOS SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 6, LOEYS-DIETZ SYNDROME 3, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, DENYS-DRASH SYNDROME, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, AMYLOIDOSIS, FINNISH TYPE, KOOLEN-DE VRIES SYNDROME, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, MALOUF SYNDROME, ROBINOW SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PELGER-HUET ANOMALY, CORNELIA DE LANGE SYNDROME 3, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, NESTOR-GUILLERMO PROGERIA SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, RESTRICTIVE DERMOPATHY, LETHAL, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CORNELIA DE LANGE SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, PARKINSON DISEASE 4, ?PRUNE BELLY SYNDROME, ?ATRIAL FIBRILLATION 15, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, CARDIOMYOPATHY, HYPERTROPHIC, 11, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ATRIAL SEPTAL DEFECT 5, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ESTROGEN RESISTANCE, AORTIC ANEURYSM, FAMILIAL THORACIC 7, HEART-HAND SYNDROME, SLOVENIAN TYPE, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ATRIAL FIBRILLATION, FAMILIAL, 6, CARDIOMYOPATHY, DILATED, 1V, CARDIOMYOPATHY, DILATED, 1U, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, KCNA5, TSC2, SMAD3, APP, CAV1, PPARG, POLR1A, LMNA, PRICKLE2, DHCR7, NPPA, CALM1, NOTCH1, DVL3, LBR, BANF1, PRKCSH, AKT1, TGFB1, ATP1B1, NOS3, RPL5, NUP155, PSEN2, CENPF, DMPK, EDNRA, ESR1, MT-CO2, BMP2, SYNE1, PSEN1, BRCA1, EDN1, MYLK, SMARCB1, RYR2, DSP, CREBBP, DST, WT1, EFTUD2, TLL1, GNAS, AVPR2, ZMPSTE24, SMAD6, LMNB1, MEF2A, SMC1A, HRAS, EGFR, SNCA, TMEM43, TSHR, RBPJ, EMD, ACTB, ACTC1, AAAS, KCNH1, GSN, SYNE2, CHRM3, KANSL1, SMC3, MTOR

JERVELL AND LANGE-NIELSEN SYNDROME 1, ANDERSEN SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, ATRIAL FIBRILLATION, FAMILIAL, 7, ATRIAL FIBRILLATION, FAMILIAL, 12, HYPERALDOSTERONISM, FAMILIAL, TYPE III, CARDIOMYOPATHY, DILATED, 3B, BARTTER SYNDROME, TYPE 2, LONG QT SYNDROME 5, LONG QT SYNDROME 6, LONG QT SYNDROME 13, ATRIAL FIBRILLATION, FAMILIAL, 3, LONG QT SYNDROME 15, AORTIC ANEURYSM, FAMILIAL THORACIC 8, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, DUCHENNE MUSCULAR DYSTROPHY, PRIMARY PULMONARY HYPERTENSION, MYOPATHY, DISTAL, 4, BRUGADA SYNDROME 9, ZIMMERMANN-LABAND SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, LONG QT SYNDROME 14, SHORT QT SYNDROME 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, BECKER MUSCULAR DYSTROPHY, ATRIAL FIBRILLATION, FAMILIAL, 9, JERVELL AND LANGE-NIELSEN SYNDROME 2, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEFT VENTRICULAR NONCOMPACTION 1, WITH OR WITHOUT CONGENITAL HEART DEFECTS, LONG QT SYNDROME 1, PROTEUS SYNDROME, SOMATIC

KCNA5, CALM1, CAV3, KCNQ1, KCNJ5, KCNMB1, CFTR, DMD, PRKACA, KCNJ8, KCNE2, KCND3, AKAP9, KCNE1, KCNJ1, ABCC9, FLNC, PRKG1, KCNJ2, AKT1, KCNH2, KCNH1, ANK2, DTNA

PARKINSON DISEASE 4, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, ?ATRIAL FIBRILLATION 15, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, PELGER-HUET ANOMALY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ATRIAL SEPTAL DEFECT 5, SUPRAVALVAR AORTIC STENOSIS, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, TRIFUNCTIONAL PROTEIN DEFICIENCY, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, DONNAI-BARROW SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CARDIOMYOPATHY, HYPERTROPHIC, 11, AURICULOCONDYLAR SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, PULMONARY VENOOCCLUSIVE DISEASE 1, LOEYS-DIETZ SYNDROME 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, PRIMARY PULMONARY HYPERTENSION, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, RESTRICTIVE DERMOPATHY, LETHAL, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, LONG QT SYNDROME 14, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CORNELIA DE LANGE SYNDROME 3, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, HEART-HAND SYNDROME, SLOVENIAN TYPE, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, POLYCYSTIC LIVER DISEASE, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, TUBEROUS SCLEROSIS 2, STROMME SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, MALOUF SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, FANCONI ANEMIA, COMPLEMENTATION GROUP L, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, CHILBLAIN LUPUS, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, SMITH-KINGSMORE SYNDROME, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA

ACTA1, CALM1, SOX9, DSP, TREX1, SMAD3, POLR1A, CAV3, NOS2, SDHD, LBR, SDHA, CENPF, NOS3, LMNA, LMNB1, NAGLU, HADHB, SYNE1, NUP155, SNCA, EDN1, FN1, KCNH2, NDUFB9, TSC2, DNASE1, DST, SEC63, GPX4, AAAS, APP, SYNE2, HRAS, FANCL, LRP2, EMD, ACTC1, ANK2, SMC3, MTOR, BMPR2

BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, GLUTAMINE DEFICIENCY, CONGENITAL, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, BARTH SYNDROME, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 2, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MEDULLARY CYSTIC KIDNEY DISEASE 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, COENZYME Q10 DEFICIENCY, PRIMARY, 7, AURICULOCONDYLAR SYNDROME 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, CARDIOMYOPATHY, HYPERTROPHIC, 3, CEREBROTENDINOUS XANTHOMATOSIS, COFFIN-LOWRY SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIOMYOPATHY, DILATED, 1NN, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, VLCAD DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, HAJDU-CHENEY SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, CUTIS LAXA, AUTOSOMAL DOMINANT 3, ESSENTIAL HYPERTENSION, CARDIOMYOPATHY, HYPERTROPHIC, 18, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, LOEYS-DIETZ SYNDROME 3, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, FRONTOMETAPHYSEAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ADAMS-OLIVER SYNDROME 3, LONG QT SYNDROME 14, LEBER OPTIC ATROPHY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, HAY-WELLS SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, FANCONI ANEMIA, COMPLEMENTATION GROUP C, PARAGANGLIOMAS 3, OROTIC ACIDURIA, PELGER-HUET ANOMALY, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, ATRIAL SEPTAL DEFECT 5, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, TRIFUNCTIONAL PROTEIN DEFICIENCY, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, CARDIAC VALVULAR DYSPLASIA, X-LINKED, COENZYME Q10 DEFICIENCY, PRIMARY, 5, MYHRE SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, VENTRICULAR TACHYCARDIA, IDIOPATHIC, OPTIC ATROPHY 7, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, ALAGILLE SYNDROME 2, HYPERTHYROIDISM, NONAUTOIMMUNE, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, NESTOR-GUILLERMO PROGERIA SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, SENGERS SYNDROME, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, DILATED CARDIOMYOPATHY 1DD, CPT DEFICIENCY, HEPATIC, TYPE IA, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CPT DEFICIENCY, HEPATIC, TYPE II, GELEOPHYSIC DYSPLASIA 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, HETEROTOPIA, PERIVENTRICULAR, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ?CARDIOMYOPATHY, DILATED, 2A, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, PSEUDOHYPOALDOSTERONISM, TYPE IIE, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PSEUDOHYPOALDOSTERONISM, TYPE 2, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, MARFAN LIPODYSTROPHY SYNDROME, PARAGANGLIOMAS 4, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, CPT II DEFICIENCY, LETHAL NEONATAL, CARDIOMYOPATHY, DILATED, 1V, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, CARDIOMYOPATHY, HYPERTROPHIC, 7, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TNNI3, APOB, DNAJC19, CPT2, ACADS, SDHC, ACTB, NDUFA11, CYP27A1, COQ7, PSEN1, MUC1, CYP11B2, NDUFA1, AGT, PPARG, ASCC1, EDN1, GJA1, COX10, COQ2, HADH, COX6B1, NDUFB11, MT-ATP6, AGK, MT-CO3, COX20, WNK1, CYP11B1, DLD, ABCA1, COX8A, ACTC1, SMAD4, UMPS, GNAI2, RBPJ, RAF1, PTCH1, SOX9, TPM1, NDUFAF3, NDUFAF6, LBR, COQ4, NME1, CUL3, NOS3, NDUFS6, GLUL, SKIV2L, FGFR1, MT-ND6, NR2F2, HADHA, NDUFAF4, MT-ND2, FANCC, TGFBR1, PRKG1, TMEM173, MT-CYB, ACTA2, TNNT2, COX14, RPS6KA3, TP63, MT-CO1, BANF1, NDUFB3, SCO2, HSD17B10, SDHD, PSEN2, TAZ, NDUFS7, TMEM70, PPOX, NR3C1, AKT1, HADHB, SLC25A26, ALDH18A1, COQ9, EGFR, ATP5A1, SLC25A4, TMEM126A, COX15, SNCA, TSHR, HSPA9, PEX5, ECHS1, PLN, MT-ND3, NDUFV1, NDUFS3, FLNA, NDUFS1, HCCS, ACADVL, MT-ND4, DHCR7, PRKCSH, SDHA, REN, MT-CO2, SCO1, NOTCH2, NDUFS4, NDUFV2, NDUFB9, CPT1A, CPOX, GPX4, MT-ND5, FBN1, APP, PEX19, MT-ND4L, POLG, ACTN2, DHCR24, COX7B, SMAD3, MT-ND1, SLC25A20, SDHB, NDUFS2, C10orf2, MTOR, ATIC

ADAMS-OLIVER SYNDROME 5, BARAITSER-WINTER SYNDROME 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, COPROPORPHYRIA, HARDEROPORPHYRIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ROBERTS SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, CORNELIA DE LANGE SYNDROME 3, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, VENTRICULAR SEPTAL DEFECT 2, LONG QT SYNDROME 15, COFFIN-SIRIS SYNDROME 4, LATERAL MENINGOCELE SYNDROME, SC PHOCOMELIA SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, LUJAN-FRYNS SYNDROME, MYHRE SYNDROME, NOONAN SYNDROME 10, BOHRING-OPITZ SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 3, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ADAMS-OLIVER SYNDROME 3, ATRIAL SEPTAL DEFECT 2, COFFIN-SIRIS SYNDROME 2, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, LONG QT SYNDROME 14, COFFIN-SIRIS SYNDROME 3, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, ATRIOVENTRICULAR SEPTAL DEFECT 4, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, MYOPATHY, MYOFIBRILLAR, 1, CORNELIA DE LANGE SYNDROME 2, MEDULLARY CYSTIC KIDNEY DISEASE 1, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, WHITE-SUTTON SYNDROME, AURICULOCONDYLAR SYNDROME 3, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, HAY-WELLS SYNDROME, SMITH-KINGSMORE SYNDROME, WARSAW BREAKAGE SYNDROME, ATRIAL SEPTAL DEFECT 8, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

GATA1, CALM1, SOX9, ATRX, SOX2, FOXC1, HNRNPK, SMAD4, CREBBP, DNAJB6, POGZ, AKT1, MEF2A, MECP2, STAT1, MTOR, PPARG, ESR1, GATA5, BMP2, ASXL1, NOTCH1, CITED2, CPOX, EDN1, SMARCA4, DDX11, KLF1, MED12, ESCO2, MUC1, TAF2, NKX2-1, GATA4, TWIST1, SMC1A, SMARCB1, NOTCH3, KAT6A, ACTB, SMAD3, LZTR1, ARID1A, TP63, RBPJ, DNMT3A, SMC3

PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PARAGANGLIOMAS 3, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, PARAGANGLIOMAS 4, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}

SDHD, SDHA, SDHB, SDHC

BARAITSER-WINTER SYNDROME 1, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, WOLFRAM SYNDROME, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUROFIBROMATOSIS-NOONAN 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}, ?DYSTONIA 23, SUPRAVALVAR AORTIC STENOSIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, PULMONARY HYPERTENSION, PRIMARY, 2, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CARDIOMYOPATHY, DILATED, 1E, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, BRUGADA SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, ATRIAL FIBRILLATION, FAMILIAL, 7, ATRIAL FIBRILLATION, FAMILIAL, 13, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, CUTIS LAXA, AD, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ESSENTIAL HYPERTENSION, HYPERTHYROIDISM, NONAUTOIMMUNE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, SICK SINUS SYNDROME 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, MYOPATHY, DISTAL, TATEYAMA TYPE, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, CEREBROCOSTOMANDIBULAR SYNDROME, HAY-WELLS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, TIMOTHY SYNDROME, THROMBOCYTHEMIA 3, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, OSTEOGENESIS IMPERFECTA, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), ALAGILLE SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, TANGIER DISEASE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, BECKER MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PULMONARY VENOOCCLUSIVE DISEASE 1, HEMOCHROMATOSIS TYPE 1, PULMONARY HYPERTENSION, PRIMARY, 3, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, TUBEROUS SCLEROSIS-1, LEFT VENTRICULAR NONCOMPACTION 1, WITH OR WITHOUT CONGENITAL HEART DEFECTS, FRAGILE X SYNDROME, ROBINOW SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?PRUNE BELLY SYNDROME, RENPENNING SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, NEUROFIBROMATOSIS, TYPE 1, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, HETEROTOPIA, PERIVENTRICULAR, WATSON SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 10, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, BRUGADA SYNDROME 9, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, LONG QT SYNDROME-3, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, CAV1, COL1A1, ACTB, GNAS, PSEN1, GATA5, F2, AGT, AGTR1, EDN1, KCNH2, FMR1, FBP1, CACNA1B, JAG1, WFS1, GNAI2, RBPJ, NF1, SOX9, DVL3, APOA2, ERBB3, ELN, NOS3, LMNB1, CACNA1D, ACVRL1, KCND3, ABCA1, JAK2, ACAD9, AVPR2, TGFBR1, GDNF, MAX, TSHR, RPS6KA3, TP63, LRP6, BMPR2, KCNA5, CAV3, GJA1, SMAD4, NOS1AP, FLT4, SMAD9, STAT1, LRP5, DMD, PQBP1, SNRPB, BMP2, FN1, CFTR, AKT1, SNCA, HSPA9, RAF1, CHRM3, PTEN, FLNA, NOS2, KCNJ10, NTRK1, SCN1B, SCN5A, TGFB1, ESR1, CACNA1C, NOTCH1, ACTN4, RPL11, APP, MEF2A, SMC3, HRAS, EGFR, ACTN2, SMAD3, NR3C1, TSC1, C10orf2, DTNA, RYR1

LOEYS-DIETZ SYNDROME 5, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, ATRANSFERRINEMIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOPATHY, DISTAL, 4, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ATRIAL FIBRILLATION, FAMILIAL, 6, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ATRIAL STANDSTILL 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LOEYS-DIETZ SYNDROME 4, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, PROTEUS SYNDROME, SOMATIC

ACTA1, APP, F2, PROS1, ERBB3, NPPA, F5, FLNC, IGF2, TGFB1, TGFB3, TGFB2, DBH, PLG, AKT1, ACTN4, APOA1, CALR, CTCF, FN1, ACTN2, TF, F13A1

BARAITSER-WINTER SYNDROME 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, NEUROFIBROMATOSIS-NOONAN SYNDROME, HERMANSKY-PUDLAK SYNDROME 1, SUPRAVALVAR AORTIC STENOSIS, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, CARDIOMYOPATHY, DILATED, 1E, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, SADDAN, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, BRUGADA SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ATRIAL FIBRILLATION, FAMILIAL, 13, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ESSENTIAL HYPERTENSION, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, EHLERS-DANLOS SYNDROME, TYPE 3, FRONTOMETAPHYSEAL DYSPLASIA, ATRIOVENTRICULAR SEPTAL DEFECT 4, SICK SINUS SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 2, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, MYOPATHY, DISTAL, TATEYAMA TYPE, OSTEOGENESIS IMPERFECTA, TYPE I, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, SPINAL MUSCULAR ATROPHY-1, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, CORNELIA DE LANGE SYNDROME 3, TIMOTHY SYNDROME, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, VENTRICULAR SEPTAL DEFECT 3, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), ATRIAL SEPTAL DEFECT 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYHRE SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, VENTRICULAR TACHYCARDIA, IDIOPATHIC, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, LEFT VENTRICULAR NONCOMPACTION 1, WITH OR WITHOUT CONGENITAL HEART DEFECTS, FRAGILE X SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, NEUROFIBROMATOSIS, TYPE 1, HETEROTOPIA, PERIVENTRICULAR, WATSON SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 10, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, LONG QT SYNDROME-3, CARDIOMYOPATHY, DILATED, 1V, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, PROTEUS SYNDROME, SOMATIC

CALM1, CAV3, MIB1, TGFB2, APP, REN, ERBB3, IGHMBP2, COL1A1, PEX5, NKX2-5, PTEN, ACTG1, DVL3, FLT4, AKT1, NTRK1, GLI3, NOS3, SCN1B, FLNA, STAT1, PSEN2, DDC, GDNF, TGFB1, RYR1, SNCA, FGFR1, MT-CO2, CACNA1C, NOTCH1, IGF2, EDN1, FN1, SOX2, RYR2, SOS1, SCN5A, GJA1, ACTN4, PLG, DTNBP1, PSEN1, CBL, FMR1, GATA4, TGFBR1, RET, PEX19, SMC3, HRAS, EGFR, ACTN2, ACTB, NF1, FGFR3, SMAD4, CREBBP, DST, GNAI2, JAK2, DTNA, CACNA1D

PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), MALONYL-COA DECARBOXYLASE DEFICIENCY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, FANCONI ANEMIA, COMPLEMENTATION GROUP A, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PHYTANIC ACID STORAGE DISEASE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, LONG QT SYNDROME 15, ?ATRIAL FIBRILLATION 15, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 14B, LOEYS-DIETZ SYNDROME 3, CARDIOFACIOCUTANEOUS SYNDROME, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), LONG QT SYNDROME 14, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), DYSAUTONOMIA, FAMILIAL, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), RUBINSTEIN-TAYBI SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}

CALM1, PEX1, MLYCD, MAP2K2, PEX2, PEX11B, PPARG, NUP155, BRCA1, AGXT, BAAT, PHYH, PEX3, APP, PEX19, PEX16, ABCD4, PEX5, SMAD3, CREBBP, PEX7, IKBKAP

LONG QT SYNDROME-3, SICK SINUS SYNDROME 1, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, 1E, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, PAROXYSMAL EXTREME PAIN DISORDER, ATRIAL FIBRILLATION, FAMILIAL, 10, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), ATRIAL FIBRILLATION, FAMILIAL, 13, BRUGADA SYNDROME 1, BRUGADA SYNDROME 7, ATRIAL FIBRILLATION, FAMILIAL, 16, ATRIAL FIBRILLATION, FAMILIAL, 14

SCN5A, SCN1B, SCN4B, SCN3B, SCN9A, SCN2B