CARDIOVASCULAR

BARAITSER-WINTER SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CODAS SYNDROME, HETEROTAXY, VISCERAL, 5, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AORTIC ANEURYSM, FAMILIAL THORACIC 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NON-IMMUNE HYDROPS FETALIS, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ESSENTIAL HYPERTENSION, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HEMOCHROMATOSIS, TYPE 2B, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, COMPLEMENT FACTOR I DEFICIENCY, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, CARASIL SYNDROME, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, {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}, OSTEOGENESIS IMPERFECTA, TYPE I, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OSTEOGENESIS IMPERFECTA, TYPE II, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MYOPATHY, MYOFIBRILLAR, 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, LOEYS-DIETZ SYNDROME 5, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, TUBEROUS SCLEROSIS 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PULMONARY HYPERTENSION, PRIMARY, 3, 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, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, ATRIAL FIBRILLATION, FAMILIAL, 6, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

NME1, CAV1, F13A1, APOB, NODAL, PROC, NOS2, HSD17B10, CREBBP, HABP2, FLT4, TGFB1, IGF2, NOS3, TGFB3, F2, AGT, GDF2, BMP2, COL1A2, PLG, AKT1, FN1, CBL, LONP1, CFI, IFNG, NEU1, GPX4, PCSK9, COL1A1, APP, DES, C3, HTRA1, FKBP14, EGFR, ACTA2, ACTB, MYH11, NPPA, HAMP, CD46, F5, HFE, MTOR, CFB

ATRIAL FIBRILLATION, FAMILIAL, 7, ATRIOVENTRICULAR SEPTAL DEFECT 3, JERVELL AND LANGE-NIELSEN SYNDROME 1, ANDERSEN SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, SHORT QT SYNDROME 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ATRIAL FIBRILLATION, FAMILIAL, 12, SICK SINUS SYNDROME 2, HYPOPLASTIC LEFT HEART SYNDROME 1, CARDIOMYOPATHY, DILATED, 3B, BARTTER SYNDROME, TYPE 2, LONG QT SYNDROME 6, LONG QT SYNDROME 13, ATRIAL FIBRILLATION, FAMILIAL, 3, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AORTIC ANEURYSM, FAMILIAL THORACIC 8, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, DUCHENNE MUSCULAR DYSTROPHY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CORNELIA DE LANGE SYNDROME 3, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, PRIMARY PULMONARY HYPERTENSION, MYOPATHY, DISTAL, 4, BRUGADA SYNDROME 9, ZIMMERMANN-LABAND SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 4, LONG QT SYNDROME 14, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 9, {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, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, TIMOTHY SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, SESAME SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HETEROTOPIA, PERIVENTRICULAR, OCULODENTODIGITAL DYSPLASIA, LEFT VENTRICULAR NONCOMPACTION 1, WITH OR WITHOUT CONGENITAL HEART DEFECTS, HYPERALDOSTERONISM, FAMILIAL, TYPE III, LONG QT SYNDROME 1, PROTEUS SYNDROME, SOMATIC

KCNA5, CALM1, CAV3, FLNA, KCNQ1, GJA1, PRKACA, SMC3, KCNJ10, KCNMB1, CFTR, KCNJ2, DMD, KCNJ5, CACNA1C, KCNJ8, KCNE2, KCND3, KCNH2, KCNJ1, ABCC9, EFEMP2, NKX2-1, FLNC, PRKG1, KCNE3, AKT1, EGFR, ACTN2, KCNH1, ANK2, KCNK3, DTNA, HCN4

BARAITSER-WINTER SYNDROME 1, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, LONG QT SYNDROME 12, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, BARTTER SYNDROME, TYPE 2, LONG QT SYNDROME 13, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, BARAITSER-WINTER SYNDROME 2, 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}, CORNELIA DE LANGE SYNDROME 3, LEOPARD SYNDROME 3, LYMPHEDEMA, HEREDITARY, III, SUPRAVALVAR AORTIC STENOSIS, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, STORMORKEN SYNDROME, AURICULOCONDYLAR SYNDROME 3, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, CARDIOMYOPATHY, DILATED, 1E, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, BRUGADA SYNDROME 7, ATRIAL FIBRILLATION, FAMILIAL, 16, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATRIAL FIBRILLATION, FAMILIAL, 3, BRUGADA SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PAROXYSMAL EXTREME PAIN DISORDER, ATRIAL FIBRILLATION, FAMILIAL, 7, ATRIAL FIBRILLATION, FAMILIAL, 13, ATRIAL FIBRILLATION, FAMILIAL, 12, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ATRIAL FIBRILLATION, FAMILIAL, 14, LONG QT SYNDROME 6, ESSENTIAL HYPERTENSION, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ?MARDEN-WALKER SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ATRANSFERRINEMIA, LOEYS-DIETZ SYNDROME 3, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, PRIMARY PULMONARY HYPERTENSION, SICK SINUS SYNDROME 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, JERVELL AND LANGE-NIELSEN SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SHORT QT SYNDROME 2, TIMOTHY SYNDROME, ATRIAL SEPTAL DEFECT 5, OCULOECTODERMAL SYNDROME, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, DUCHENNE MUSCULAR DYSTROPHY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, PULMONARY HYPERTENSION, PRIMARY, 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, 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, PULMONARY HYPERTENSION, PRIMARY, 3, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, LEFT VENTRICULAR NONCOMPACTION 1, WITH OR WITHOUT CONGENITAL HEART DEFECTS, SICK SINUS SYNDROME 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, ?DYSTONIA 23, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, ?PRUNE BELLY SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 11, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, HYPERALDOSTERONISM, FAMILIAL, TYPE III, HYPOPLASTIC LEFT HEART SYNDROME 1, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CARDIOMYOPATHY, HYPERTROPHIC, 17, EPISODIC PAIN SYNDROME, FAMILIAL, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, HETEROTOPIA, PERIVENTRICULAR, MAY-HEGGLIN ANOMALY, ATRIAL FIBRILLATION, FAMILIAL, 10, ?CARDIOMYOPATHY, DILATED, 2A, NOONAN SYNDROME 7, BRUGADA SYNDROME 9, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, ATRIAL FIBRILLATION, FAMILIAL, 9, LONG QT SYNDROME-3, CARDIOMYOPATHY, DILATED, 1V, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, CARDIOMYOPATHY, HYPERTROPHIC, 7, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, CAV1, PKD1, PDE4D, CHRNG, ACTB, PSEN1, AGT, EDN1, KCNH2, APOB, RYR2, PIEZO2, CACNA1B, KCNE3, EFEMP2, ACTC1, CREBBP, TRPA1, JPH2, SCN1B, KRAS, NOS3, RYR1, TNNI3, HCN4, KCND3, KCNJ1, IFNG, CACNB2, NKX2-1, PRKG1, PCSK9, BRAF, KCNK3, SMC3, SCN2B, SNTA1, KCNA5, CAV3, STIM1, APP, GJA1, KCNMB1, PSEN2, DMD, KCNJ5, CHRNA1, FN1, SCN4B, CFTR, LDLR, SEC63, LRP2, PIEZO1, TRPM4, AKT1, AKAP9, PTEN, KCNH1, CHRM3, CHRND, FLNA, KCNQ1, NOS2, ACTG1, KCNJ10, TGFB1, PTPN11, SCN5A, MYH9, PRKACA, CACNA1C, KCNJ8, KCNE2, SCN9A, ABCC9, CACNA1S, SCN3B, FLNC, KCNJ2, PAM16, HRAS, EGFR, ACTN2, TF, SMAD3, ANK2, DTNA, CACNA1D

ADAMS-OLIVER SYNDROME 5, BARAITSER-WINTER SYNDROME 1, SHPRINTZEN-GOLDBERG SYNDROME, CHAR SYNDROME, CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, CORNELIA DE LANGE SYNDROME 3, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL DOMINANT, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LOEYS-DIETZ SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, ERYTHROCYTOSIS, FAMILIAL, 2, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ESSENTIAL HYPERTENSION, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COFFIN-SIRIS SYNDROME 4, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, EHLERS-DANLOS SYNDROME, TYPE 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ATRANSFERRINEMIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, PRIMARY PULMONARY HYPERTENSION, MYOPATHY, DISTAL, 4, CARASIL SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STICKLER SYNDROME, TYPE I, BURN-MCKEOWN SYNDROME, ESTROGEN RESISTANCE, OSTEOGENESIS IMPERFECTA, TYPE I, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, PARKINSON DISEASE 4, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY, CORNELIA DE LANGE SYNDROME 2, AMYLOIDOSIS, FINNISH TYPE, TRICHOHEPATOENTERIC SYNDROME 1, PULMONARY VENOOCCLUSIVE DISEASE 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BETHLEM MYOPATHY 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, COFFIN-LOWRY SYNDROME, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ATRIAL FIBRILLATION, FAMILIAL, 6, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, HYPERTHYROIDISM, NONAUTOIMMUNE, 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, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, HETEROTOPIA, PERIVENTRICULAR, {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, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

SERPINC1, TTR, FLNC, F2, APP, FGFR1, REN, APOA1, SERPIND1, NOS2, NPPA, ACTB, IGF2, AKT1, TGFB1, CTCF, NOS3, SMARCA4, RPS6KA3, STAT1, ITIH4, FLNA, TTC37, AGT, MTOR, VHL, ESR1, BMP2, NOTCH1, COL6A3, TFAP2B, FN1, APOB, TXNL4A, PLG, COL4A3, ERBB3, SERPINA6, COL1A1, TF, C3, KIF1BP, SNCA, COL1A2, EGFR, TSHR, FANCA, PTEN, SMC1A, SMAD3, CREBBP, GSN, PROS1, COL2A1, LRP6, SMC3, BMPR2, HTRA1

?DYSTONIA 23, BARAITSER-WINTER SYNDROME 1, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, TIMOTHY SYNDROME, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CARDIOMYOPATHY, HYPERTROPHIC, 17, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MAY-HEGGLIN ANOMALY, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, LOEYS-DIETZ SYNDROME 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LONG QT SYNDROME 14, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, STORMORKEN SYNDROME, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, TUBEROUS SCLEROSIS 2, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, EPISODIC PAIN SYNDROME, FAMILIAL, 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, PROTEUS SYNDROME, SOMATIC, LEOPARD SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

CALM1, CAV3, STIM1, PKD1, TSC2, TRPM4, PTEN, ACTB, PTPN11, MYH9, RYR1, CACNA1C, PSEN1, AKT1, RYR2, CACNB2, CACNA1S, NOS2, APP, CACNA1B, FN1, EGFR, ACTN2, JPH2, SMAD3, PAM16, TRPA1, CACNA1D

ADAMS-OLIVER SYNDROME 5, LOEYS-DIETZ SYNDROME 1, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, RENPENNING SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ATRIAL SEPTAL DEFECT 8, ATRIAL STANDSTILL 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VENTRICULAR SEPTAL DEFECT 3, MOWAT-WILSON SYNDROME, HAJDU-CHENEY SYNDROME, LONG QT SYNDROME 15, COFFIN-SIRIS SYNDROME 4, CHAR SYNDROME, VENTRICULAR SEPTAL DEFECT 2, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, GLUCOCORTICOID RESISTANCE, SECKEL SYNDROME 2, LUJAN-FRYNS SYNDROME, MYHRE SYNDROME, RUBINSTEIN-TAYBI SYNDROME, TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, LOEYS-DIETZ SYNDROME 3, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, ATRIAL SEPTAL DEFECT 2, DENYS-DRASH SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, LONG QT SYNDROME 14, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, PULMONARY VENOOCCLUSIVE DISEASE 1, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ATRIAL FIBRILLATION, FAMILIAL, 6, CORNELIA DE LANGE SYNDROME 1, HOLT-ORAM SYNDROME, ROBINOW SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, ALAGILLE SYNDROME 2, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, PROTEUS SYNDROME, SOMATIC

GATA1, CALM1, SALL1, ZFPM2, PQBP1, SMARCA4, MED13L, NKX2-5, CREBBP, DVL3, NOTCH1, GATA5, STAT1, RBBP8, GDF2, PPARG, CASQ2, SOX2, NOTCH2, CITED2, AKT1, KMT2A, ZEB2, TBX5, MED12, WT1, GATA4, NKX2-1, MEF2A, TFAP2B, MAX, TGFBR2, SMAD3, SMAD4, NR3C1, ESR1, NPPA, RBPJ, BMPR2

ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 4, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, CHAR SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, LOEYS-DIETZ SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, EHLERS-DANLOS SYNDROME, TYPE 3, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VENTRICULAR SEPTAL DEFECT 3, MOWAT-WILSON SYNDROME, PANCREATIC AND CEREBELLAR AGENESIS, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COFFIN-SIRIS SYNDROME 4, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, NOONAN SYNDROME 10, SOTOS SYNDROME 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, LOEYS-DIETZ SYNDROME 3, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, ADAMS-OLIVER SYNDROME 3, ATRIAL SEPTAL DEFECT 2, DENYS-DRASH SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, MYOTONIC DYSTROPHY 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MYOPATHY, MYOFIBRILLAR, 4, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, KLIPPEL-FEIL SYNDROME 2, LOEYS-DIETZ SYNDROME 2, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ATRIAL FIBRILLATION, FAMILIAL, 6, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, GLUCOCORTICOID RESISTANCE, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, ATRIAL STANDSTILL 2, ROBINOW SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, HAY-WELLS SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, RENAL TUBULAR DYSGENESIS, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, COFFIN-LOWRY SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

GATA1, SOX9, ATRX, SMAD3, SMARCA4, ERBB3, HNRNPK, NKX2-5, PTEN, CREBBP, DVL3, IGF2, AKT1, TGFB1, GDNF, NOTCH1, MAF, CPOX, PTF1A, TBX3, AGT, NSD1, PPARG, BMP2, GATA5, SALL1, BRCA1, TFAP2B, SOX2, ZEB2, ESR1, WNT5A, FOXC2, LZTR1, TAF2, WT1, GATA4, NKX2-1, GLIS3, SUFU, CALR, MEF2A, MYH6, EGFR, CNBP, TGFBR2, MEOX1, NPPA, NR3C1, RPS6KA3, TP63, DNMT3A, RBPJ, LDB3

BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, VERHEIJ SYNDROME, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, COCKAYNE SYNDROME, TYPE A, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, MULIBREY NANISM, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, ADAMS-OLIVER SYNDROME 6, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, SECKEL SYNDROME 2, [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, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 2, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, VACTERL ASSOCIATION, X-LINKED, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, OPITZ GBBB SYNDROME, TYPE II, ALPHA-THALASSEMIA/MENTAL RETARDATION 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}, ATRIAL SEPTAL DEFECT 9, DYSAUTONOMIA, FAMILIAL, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, SUPRAVALVAR AORTIC STENOSIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, VELOCARDIOFACIAL SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), KABUKI SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DUANE-RADIAL RAY SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, AORTIC VALVE DISEASE 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PULMONARY HYPERTENSION, PRIMARY, 2, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, CALCIFICATION OF JOINTS AND ARTERIES, SADDAN, CARDIOMYOPATHY, HYPERTROPHIC, 3, SMITH-LEMLI-OPITZ SYNDROME, NOONAN SYNDROME 4, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 3, SHPRINTZEN-GOLDBERG SYNDROME, DIGEORGE SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, BOHRING-OPITZ SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, CARDIOMYOPATHY, DILATED, 1HH, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, AORTIC ANEURYSM, FAMILIAL THORACIC 8, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 12, HEMOCHROMATOSIS, TYPE 2B, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?CARDIOMYOPATHY, DILATED, 2B, DIAMOND-BLACKFAN ANEMIA 6, LUJAN-FRYNS SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, NAXOS DISEASE, SOTOS SYNDROME 1, FRONTOMETAPHYSEAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MICROPHTHALMIA, SYNDROMIC 12, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, CORNELIA DE LANGE SYNDROME 2, KOOLEN-DE VRIES SYNDROME, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, MALOUF SYNDROME, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, FRONTONASAL DYSPLASIA 1, LONG QT SYNDROME 15, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, HOLT-ORAM SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE I, PANCREATIC AND CEREBELLAR AGENESIS, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, COFFIN-LOWRY SYNDROME, SERKAL SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ADAMS-OLIVER SYNDROME 5, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, CHAR SYNDROME, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HEART-HAND SYNDROME, SLOVENIAN TYPE, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, KLEEFSTRA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, ATRIAL SEPTAL DEFECT 5, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, VENTRICULAR SEPTAL DEFECT 3, GLYCOGEN STORAGE DISEASE IA, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, AURICULOCONDYLAR SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, NON-IMMUNE HYDROPS FETALIS, NOONAN SYNDROME 10, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, LIANG DISTAL MYOPATHY, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, ATRIAL SEPTAL DEFECT 2, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MYOTONIC DYSTROPHY 2, GENITOPATELLAR SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, TANGIER DISEASE, MYOPATHY, MYOFIBRILLAR, 4, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ?CHARGE SYNDROME, CHARGE SYNDROME, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PULMONARY VENOOCCLUSIVE DISEASE 1, VENTRICULAR SEPTAL DEFECT 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HEMOCHROMATOSIS TYPE 1, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CORNELIA DE LANGE SYNDROME 1, 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, BECKWITH-WIEDEMANN SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, FRAGILE X SYNDROME, ATRIAL SEPTAL DEFECT 8, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, CARDIOMYOPATHY, DILATED, 1A, ROBINOW SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 1, LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, NESTOR-GUILLERMO PROGERIA SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, MYOPATHY, MYOFIBRILLAR, 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, RENPENNING SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, COCKAYNE SYNDROME, TYPE B, VENTRICULAR SEPTAL DEFECT 2, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MARSHALL-SMITH SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HAY-WELLS SYNDROME, LOEYS-DIETZ SYNDROME 5, STICKLER SYNDROME, TYPE I, HETEROTOPIA, PERIVENTRICULAR, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ULNAR-MAMMARY SYNDROME, KARTAGENER SYNDROME, ESTROGEN RESISTANCE, KLIPPEL-FEIL SYNDROME 2, PSEUDOHYPOALDOSTERONISM, TYPE IIE, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, PSEUDOHYPOALDOSTERONISM, TYPE 2, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, CHOPS SYNDROME, PALLISTER-HALL SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 6, KABUKI SYNDROME 1, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, SMITH-KINGSMORE SYNDROME, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, LMNA, BRCA2, F2, POLR1A, COL1A1, CNBP, ACTB, TTR, CUL3, GLI3, RPL5, CYP11B2, TBX3, AGT, PPARG, EDN1, APOB, ZEB2, KMT2A, FMR1, WT1, ERCC6, GATA4, PTRF, FBP1, KLF1, SMARCA4, G6PC, TFAP2B, WNK1, EFEMP2, TGFBR2, DLL4, ACTC1, SALL1, CREBBP, GNAI2, SPECC1L, SF3B4, PTEN, RARB, ACTA1, ACE, TPM1, CHD7, MEOX1, KRAS, KDM6A, RBM8A, NKX2-5, NME1, IGF2, NT5E, NOS3, DNMT3A, MYCN, PTF1A, THPO, GDNF, SKIV2L, NR2F2, TAF6, MECP2, CITED2, CPOX, AFF4, ABCA1, JAK2, CBL, COL2A1, NR1I3, IFNG, FBN2, EFTUD2, JUP, ZIC3, GLIS3, VPS33B, MIB1, PRKG1, RBPJ, ROR2, MAX, SPRY2, TNNT2, SMC1A, NKX2-1, RPS6KA3, RBBP8, TP63, ERCC8, ADD1, SLC26A3, KAT6B, SMC3, ALX3, GDF2, BMPR2, GATA1, PTCH1, MED12, BANF1, SMAD6, UBN1, AGL, VHL, GJA1, SOX9, SUFU, SMAD4, DVL3, SMAD9, MEF2A, GHR, FOXC1, TGFB3, FLNA, PCK1, PQBP1, GATAD1, NFIX, BMP2, HRAS, BRCA1, C3, AKT1, SOX2, KANSL1, AIP, WNT5A, FOXC2, TBX5, DDX58, ERBB3, LDLR, SLC25A4, RAF1, HNRNPK, TWIST1, FN1, CDKN1C, HSPA9, LDB3, FGFR3, LZTR1, HAMP, MAF, ACVRL1, TRIP4, NPPA, MYH6, ZFPM2, SMAD3, SMARCB1, MYH7, NOS2, ACTG1, ASXL1, DHCR7, FOXP1, PUF60, NTRK1, KMT2C, PTPN11, GATA6, KMT2D, CFTR, TGFB1, NSD1, STAT1, IKBKAP, GATA5, NOTCH1, ATRX, SOS1, TAF2, FGFR2, TBX1, UMOD, SALL4, SP110, RPL11, THRA, GPX4, GNAS, APP, RET, CTCF, FOXF1, KAT6A, CRB2, EGFR, ACTN2, WNT4, CALR, ZMYND10, CSRP3, MYH11, BAG3, NR3C1, ESR1, PAX8, TRIM37, MTOR, SKI

LOEYS-DIETZ SYNDROME 1, ATRIOVENTRICULAR SEPTAL DEFECT 3, JERVELL AND LANGE-NIELSEN SYNDROME 1, BRUGADA SYNDROME 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, LONG QT SYNDROME 12, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, ATRIAL FIBRILLATION, FAMILIAL, 7, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, POLYCYSTIC LIVER DISEASE, TIMOTHY SYNDROME, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, ATRIAL FIBRILLATION, FAMILIAL, 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LONG QT SYNDROME 6, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, DUCHENNE MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, CARDIOMYOPATHY, HYPERTROPHIC, 25, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ATRIAL FIBRILLATION, FAMILIAL, 12, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 9, PRIMARY PULMONARY HYPERTENSION, BRUGADA SYNDROME 9, SICK SINUS SYNDROME 1, LONG QT SYNDROME 14, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, SHORT QT SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, MYOPATHY, MYOFIBRILLAR, 1, BECKER MUSCULAR DYSTROPHY, SUPRAVALVAR AORTIC STENOSIS, ESSENTIAL HYPERTENSION, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, LONG QT SYNDROME 15, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, LONG QT SYNDROME-3, MYOPATHY, DISTAL, TATEYAMA TYPE, CARDIOMYOPATHY, DILATED, 1E, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, ATRIAL FIBRILLATION, FAMILIAL, 10, SMITH-KINGSMORE SYNDROME, LONG QT SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC, 3, BRUGADA SYNDROME 7, ATRIAL FIBRILLATION, FAMILIAL, 16, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

KCNA5, CALM1, CAV3, KCNQ1, GJA1, PDE4D, TPM1, PRKCSH, NOS3, SCN5A, CASQ2, TRDN, RYR1, CACNA1C, KCNE2, MTOR, KCND3, SCN4B, PKD1, RYR2, FHL1, PACS1, ABCC9, SCN3B, TGFBR1, DES, SNTA1, HRAS, EGFR, ACTN2, AKAP9, KCNH2, TCAP, ANK2, DMD, PKP2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ATRIOVENTRICULAR SEPTAL DEFECT 3, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, SHPRINTZEN-GOLDBERG SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 11, ATRIAL FIBRILLATION, FAMILIAL, 7, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ATRIAL SEPTAL DEFECT 5, OCULODENTODIGITAL DYSPLASIA, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, MUSCULAR DYSTROPHY, CONGENITAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, SMITH-KINGSMORE SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), CARDIOMYOPATHY, HYPERTROPHIC, 17, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, GLUTAMINE DEFICIENCY, CONGENITAL, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, RESTRICTIVE DERMOPATHY, LETHAL, LEBER OPTIC ATROPHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOPLASTIC LEFT HEART SYNDROME 1, MYOPATHY, MYOFIBRILLAR, 1, HEART-HAND SYNDROME, SLOVENIAN TYPE, SUPRAVALVAR AORTIC STENOSIS, ESSENTIAL HYPERTENSION, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, MALOUF SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MYOPATHY, DISTAL, TATEYAMA TYPE, TRIMETHYLAMINURIA, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, RENAL TUBULAR DYSGENESIS, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, CARDIOMYOPATHY, DILATED, 1A, JOHANSON-BLIZZARD SYNDROME, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, PROTEUS SYNDROME, SOMATIC

KCNA5, CAV3, YARS2, GJA1, LMNA, NOS2, PEX5, FMO3, MT-CO2, PTRF, TGFB1, NOS3, GLUL, DDC, AGT, CBS, MTOR, MTHFR, UBR1, AKT1, FN1, FHL1, AGXT, MUT, MT-CYB, GPX4, APP, DES, RBPJ, HRAS, EGFR, ACTN2, JPH2, ACTC1, KIF1BP, PTEN, ATIC

?DYSTONIA 23, ATRIOVENTRICULAR SEPTAL DEFECT 3, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, BARAITSER-WINTER SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, TIMOTHY SYNDROME, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, HYPOPLASTIC LEFT HEART SYNDROME 1, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MAY-HEGGLIN ANOMALY, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, CARDIOMYOPATHY, HYPERTROPHIC, 17, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, LOEYS-DIETZ SYNDROME 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LONG QT SYNDROME 14, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, AURICULOCONDYLAR SYNDROME 3, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, STORMORKEN SYNDROME, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, TUBEROUS SCLEROSIS 2, MYOPATHY, DISTAL, TATEYAMA TYPE, EPISODIC PAIN SYNDROME, FAMILIAL, 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, PROTEUS SYNDROME, SOMATIC, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

CALM1, CAV3, STIM1, GJA1, TSC2, NOS2, PTEN, ACTB, PSEN1, MYH9, CACNA1D, CACNA1C, EDN1, FN1, PKD1, RYR2, CACNB2, CACNA1S, TRPM4, APP, CACNA1B, AKT1, EGFR, ACTN2, JPH2, SMAD3, PAM16, TRPA1, RYR1

ESSENTIAL HYPERTENSION, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, AORTIC VALVE DISEASE 2, PULMONARY HYPERTENSION, PRIMARY, 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MYHRE SYNDROME, RENAL TUBULAR DYSGENESIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, LOEYS-DIETZ SYNDROME 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME

ENG, SMAD3, SMAD4, AGT, BMP2, SMAD6, SMAD9

HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS 2, DESMOSTEROLOSIS

IFNG, HLA-B, HFE, DHCR24

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PARAGANGLIOMAS 3, COPROPORPHYRIA, HARDEROPORPHYRIA, PELGER-HUET ANOMALY, EVEN-PLUS SYNDROME, VLCAD DEFICIENCY, DESMOSTEROLOSIS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, PHYTANIC ACID STORAGE DISEASE, LONG QT SYNDROME 15, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, LONG QT SYNDROME 14, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PARAGANGLIOMAS 4, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, SMITH-LEMLI-OPITZ SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, CPOX, FANCA, HSPA9, DHCR24, PEX5, ACAD9, SDHB, MT-CO2, SDHC, SDHD, DHCR7, PEX7, COX15, ACADVL, PPOX, LBR, ACADS, AKT1, SDHA

BARAITSER-WINTER SYNDROME 1, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT, GLUTAMINE DEFICIENCY, CONGENITAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, BARTTER SYNDROME, TYPE 2, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, 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}, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN 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}, DYSAUTONOMIA, FAMILIAL, ATRIAL FIBRILLATION, FAMILIAL, 9, BARDET-BIEDL SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, ATRIAL SEPTAL DEFECT 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PULMONARY HYPERTENSION, PRIMARY, 3, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, ESSENTIAL HYPERTENSION, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, FRONTOMETAPHYSEAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, FRANK-TER HAAR SYNDROME, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 4, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, ?DYSTONIA 23, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, SHPRINTZEN-GOLDBERG SYNDROME, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, LIPOPROTEIN LIPASE DEFICIENCY, DUCHENNE MUSCULAR DYSTROPHY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CLOVE SYNDROME, SOMATIC, 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, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, ?CHARGE SYNDROME, CHARGE SYNDROME, VENTRICULAR TACHYCARDIA, IDIOPATHIC, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, PSEUDOHYPOALDOSTERONISM, TYPE IIB, ALAGILLE SYNDROME 2, CORNELIA DE LANGE SYNDROME 1, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, CARDIOMYOPATHY, DILATED, 1A, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 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, CARDIOMYOPATHY, HYPERTROPHIC, 17, BARDET-BIEDL SYNDROME 2, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, NEUROFIBROMATOSIS, TYPE 1, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, HETEROTOPIA, PERIVENTRICULAR, WATSON SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ULNAR-MAMMARY SYNDROME, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, AU-KLINE SYNDROME, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, F2, APOB, TAB2, ACTB, PIGT, CACNA1B, PSEN1, RPL5, CAV1, TBX3, AGT, PPARG, EDN1, KMT2A, DES, PIK3CA, BBS2, TGFBR2, ACTC1, CREBBP, GNAI2, JPH2, ACTA1, SOX9, RASA1, APOA2, APOA1, NME1, NOS3, GLUL, MTOR, ABCA1, GTPBP3, CBL, IKBKAP, KCNJ1, JAK2, GLIS3, TGFBR1, PRKG1, SPRY2, ARL6, CHD7, TP63, LRP6, CAV3, TTR, CALR, GJA1, SMAD4, DVL3, MYBPC3, STAT1, FLNA, DMD, FN1, FHL1, LDLR, LRP2, SH3PXD2B, HNRNPK, WNK4, AKT1, SNCA, TERT, ACTA2, NF1, ECHS1, GSN, AMER1, COL2A1, LRP5, NOS2, PTRF, TGFB1, PTPN11, LPL, AHCY, ANK2, CACNA1C, NOTCH2, PLG, SOS1, ACTN4, APP, KCNJ2, PTEN, HRAS, EGFR, ACTN2, SELE, SMAD3, ESR1, KIF1BP

BARAITSER-WINTER SYNDROME 1, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, LONG QT SYNDROME 15, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 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, DYSAUTONOMIA, FAMILIAL, SUPRAVALVAR AORTIC STENOSIS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, AURICULOCONDYLAR SYNDROME 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, CARDIOMYOPATHY, HYPERTROPHIC, 22, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4, CARDIOMYOPATHY, DILATED, 1KK, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, RENAL TUBULAR DYSGENESIS, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BOHRING-OPITZ SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ATRIAL SEPTAL DEFECT 8, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, FEINGOLD SYNDROME, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, LUJAN-FRYNS SYNDROME, NAXOS DISEASE, LOEYS-DIETZ SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, COFFIN-SIRIS SYNDROME 3, FLOATING-HARBOR SYNDROME, LONG QT SYNDROME 14, APPARENT MINERALOCORTICOID EXCESS, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, HOLT-ORAM SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, CHAR SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EVEN-PLUS SYNDROME, KLEEFSTRA SYNDROME, VENTRICULAR SEPTAL DEFECT 3, COFFIN-SIRIS SYNDROME 4, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, NOONAN SYNDROME 10, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, COFFIN-SIRIS SYNDROME 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MYOPATHY, MYOFIBRILLAR, 4, 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, CORNELIA DE LANGE SYNDROME 1, ATRIAL STANDSTILL 2, FRAGILE X SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, COPROPORPHYRIA, HARDEROPORPHYRIA, RENPENNING SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, VENTRICULAR SEPTAL DEFECT 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, CARDIOMYOPATHY, DILATED, 1LL, LEFT VENTRICULAR NONCOMPACTION 8, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, MYHRE SYNDROME, KARTAGENER SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PALLISTER-HALL SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 6, KABUKI SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, AU-KLINE SYNDROME, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, SOX9, EDN1, ACTB, ZFPM2, PQBP1, PPARG, SMARCA4, DYRK1B, HNRNPK, NKX2-5, ACTG1, ARID1A, ASXL1, PRDM16, AKT1, TWIST1, SRCAP, MYPN, CASQ2, ARL2BP, SMARCB1, TAF6, AGT, GDF2, VHL, LDB3, GATA5, CREBBP, MCIDAS, HSD11B2, NOS3, TBX5, CPOX, ERCC8, MEF2A, SOX2, TRIP4, AIP, NPPA, KMT2A, BRCA1, CITED2, NR1I3, THRA, FMR1, WT1, MYCN, JUP, GATA4, MED12, LZTR1, NOS2, MECP2, KMT2D, GLI3, RBPJ, HRAS, TFAP2B, MAX, GDNF, GJA1, ACTN2, TAF2, HSPA9, KAT6A, PTEN, SMAD3, SMAD4, NR3C1, ESR1, SKI, IKBKAP, NOTCH1, MYH6, SF3B4, MTOR, PAX8, GATA1

BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, VERHEIJ SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, DIGEORGE SYNDROME, COCKAYNE SYNDROME, TYPE A, FANCONI ANEMIA, COMPLEMENTATION GROUP A, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, 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, WERNER SYNDROME, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, DYSAUTONOMIA, FAMILIAL, MEDULLARY CYSTIC KIDNEY DISEASE 1, SUPRAVALVAR AORTIC STENOSIS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AURICULOCONDYLAR SYNDROME 3, KABUKI SYNDROME 2, SCALP-EAR-NIPPLE SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, DUANE-RADIAL RAY SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, RENAL TUBULAR DYSGENESIS, CARDIOMYOPATHY, HYPERTROPHIC, 3, 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, CARDIOMYOPATHY, DILATED, 1NN, BOHRING-OPITZ SYNDROME, MICROPHTHALMIA, SYNDROMIC 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ATRIAL SEPTAL DEFECT 8, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CARDIOMYOPATHY, HYPERTROPHIC, 22, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4, CARDIOMYOPATHY, DILATED, 1KK, FEINGOLD SYNDROME, ESSENTIAL HYPERTENSION, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, SECKEL SYNDROME 2, LUJAN-FRYNS SYNDROME, NAXOS DISEASE, SOTOS SYNDROME 1, CHOANAL ATRESIA AND LYMPHEDEMA, VELOCARDIOFACIAL SYNDROME, LOEYS-DIETZ SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, COFFIN-SIRIS SYNDROME 3, FLOATING-HARBOR SYNDROME, LONG QT SYNDROME 14, FRAGILE X SYNDROME, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, CORNELIA DE LANGE SYNDROME 2, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, LONG QT SYNDROME 15, HOLT-ORAM SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, SERKAL SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, CHAR SYNDROME, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, KLEEFSTRA SYNDROME, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, 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, VENTRICULAR SEPTAL DEFECT 3, COFFIN-SIRIS SYNDROME 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, BALLER-GEROLD SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, NOONAN SYNDROME 10, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, COFFIN-SIRIS SYNDROME 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, GENITOPATELLAR SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TARP SYNDROME, MYOPATHY, MYOFIBRILLAR, 4, ?CHARGE SYNDROME, CHARGE SYNDROME, VENTRICULAR TACHYCARDIA, IDIOPATHIC, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, CORNELIA DE LANGE SYNDROME 1, ATRIAL STANDSTILL 2, BECKWITH-WIEDEMANN SYNDROME, APPARENT MINERALOCORTICOID EXCESS, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COPROPORPHYRIA, HARDEROPORPHYRIA, AYME-GRIPP SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 11, RENPENNING SYNDROME, SMITH-MAGENIS SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, VENTRICULAR SEPTAL DEFECT 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, CARDIOMYOPATHY, DILATED, 1LL, LEFT VENTRICULAR NONCOMPACTION 8, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, MYHRE SYNDROME, TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, ULNAR-MAMMARY SYNDROME, KARTAGENER SYNDROME, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, 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, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ATRIAL FIBRILLATION, FAMILIAL, 6, KABUKI SYNDROME 1, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, AU-KLINE SYNDROME, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, DYRK1B, WNT5A, MED13L, SALL1, TPM1, CUL3, GLI3, RAI1, MUC1, TBX3, AGT, PPARG, MCIDAS, RECQL4, KMT2A, KDM6A, PTPN14, FMR1, SALL4, BCOR, WNT4, ACTC1, CREBBP, GNAI2, RBPJ, SF3B4, LDB3, ACTA1, SHOC2, ACTB, CHD7, SMARCA4, ERBB3, NKX2-5, ATP1B1, NOS3, MYCN, MTOR, PLOD3, NR2F2, TAF6, CITED2, CPOX, IKBKAP, NR1I3, JAK2, RBM10, JUP, NKX2-1, KAT6B, GDNF, ROR2, MAX, KCTD1, KRAS, SMC1A, RBBP8, ERCC8, TBX1, SLC26A3, GLIS3, SMC3, PAX8, GATA1, TAB2, VHL, GJA1, SOX9, SUFU, SMAD4, CTCF, MECP2, ARL2BP, GDF2, PQBP1, CASQ2, BMP2, BRCA1, AKT1, AKAP9, SOX2, AIP, TBX5, WRN, MED12, PEX19, HNRNPK, TWIST1, EDN1, HSPA9, KAT6A, RAF1, LZTR1, MAF, TRIP4, NPPA, EHMT1, ZFPM2, SMARCB1, NOS2, ACTG1, ARID1A, ASXL1, PUF60, TGFB1, PRDM16, SRCAP, GATA4, KMT2D, KLF1, MYH9, NSD1, GATA5, HSD11B2, NOTCH1, TFAP2B, TAF2, WT1, MYPN, THRA, MEF2A, PTEN, HRAS, EGFR, ACTN2, SMAD3, NR3C1, ESR1, SKI

LEBER OPTIC ATROPHY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE

NDUFAF2, NDUFS1, NDUFS6, MT-ND2, NDUFA1, NDUFS3, NDUFS7, NDUFB9, MT-ND1, MT-ND6, NDUFV2, MT-ND5, NDUFS2, MT-ND4, MT-ND3, NDUFS4, MT-ND4L, NDUFB3, NDUFV1

VERHEIJ SYNDROME, LONG QT SYNDROME 12, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, BARTTER SYNDROME, TYPE 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SECKEL SYNDROME 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 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, HEMOCHROMATOSIS TYPE 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, 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, WARSAW BREAKAGE SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, BRUGADA SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BECKWITH-WIEDEMANN SYNDROME, SICK SINUS SYNDROME 2, CARDIOMYOPATHY, DILATED, 3B, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, 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, SINGLETON-MERTEN SYNDROME 1, ATRIAL SEPTAL DEFECT 9, ATRANSFERRINEMIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FLOATING-HARBOR SYNDROME, LEBER OPTIC ATROPHY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, CARPENTER SYNDROME, NEUROFIBROMATOSIS, TYPE 1, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, TYROSINEMIA, TYPE I, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP D1, TRIFUNCTIONAL PROTEIN DEFICIENCY, LIPOPROTEIN LIPASE DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, CILIARY DYSKINESIA, PRIMARY, 6, 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, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, OGDEN SYNDROME, TRIMETHYLAMINURIA, TUBEROUS SCLEROSIS-1, FRAGILE X SYNDROME, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, HYPOPLASTIC LEFT HEART SYNDROME 1, ?DYSTONIA 23, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MENKES DISEASE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, PSEUDOHYPOALDOSTERONISM, TYPE IIC, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, CARNEY COMPLEX, TYPE 1, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ?CARDIOMYOPATHY, DILATED, 2A, KARTAGENER SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, NOONAN SYNDROME 7, DYSAUTONOMIA, FAMILIAL, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HETEROTOPIA, PERIVENTRICULAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, GLUTAMINE DEFICIENCY, CONGENITAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTH SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, TARP SYNDROME, DONNAI-BARROW SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ATRIOVENTRICULAR SEPTAL DEFECT 5, NEUROFIBROMATOSIS-NOONAN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, LEOPARD SYNDROME 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PULMONARY HYPERTENSION, PRIMARY, 2, MYXOMA, INTRACARDIAC, SHPRINTZEN-GOLDBERG SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIOMYOPATHY, DILATED, 1NN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, CUTIS LAXA, AUTOSOMAL DOMINANT 3, CARDIOMYOPATHY, HYPERTROPHIC, 12, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, MULIBREY NANISM, NOONAN SYNDROME 9, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, PRIMARY PULMONARY HYPERTENSION, OCCIPITAL HORN SYNDROME, DENYS-DRASH SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP O, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, MALFORMATION OF THE HEART, MALOUF SYNDROME, OROFACIODIGITAL SYNDROME V, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, FANCONI ANEMIA, COMPLEMENTATION GROUP C, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NOONAN SYNDROME 8, NON-IMMUNE HYDROPS FETALIS, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, NOONAN SYNDROME 10, HYPERTENSION AND BRACHYDACTYLY SYNDROME, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, BECKER MUSCULAR DYSTROPHY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, 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, NEU-LAXOVA SYNDROME 1, APPARENT MINERALOCORTICOID EXCESS, MOYAMOYA 6 WITH ACHALASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?PRUNE BELLY SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, SESAME SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, GLYCOGEN STORAGE DISEASE 0, MUSCLE, HEART-HAND SYNDROME, SLOVENIAN TYPE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, 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, GLYCOGEN STORAGE DISEASE IV, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, COCKAYNE SYNDROME, TYPE B, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, LYMPHEDEMA, HEREDITARY, IA, 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, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, AORTIC VALVE DISEASE 2, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, SADDAN, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), ALPORT SYNDROME, AUTOSOMAL DOMINANT, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, 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, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CORNELIA DE LANGE SYNDROME 2, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 4, OSTEOGENESIS IMPERFECTA, TYPE I, POLYCYTHEMIA VERA, SOMATIC, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOTONIC DYSTROPHY 1, BURN-MCKEOWN SYNDROME, ATRIAL SEPTAL DEFECT 5, OCULOECTODERMAL SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, CARDIAC VALVULAR DYSPLASIA, X-LINKED, BALLER-GEROLD SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, COENZYME Q10 DEFICIENCY, PRIMARY, 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, TANGIER DISEASE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, POLYGLUCOSAN BODY DISEASE, ADULT FORM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, 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, COPROPORPHYRIA, HARDEROPORPHYRIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SENGERS SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, MCKUSICK-KAUFMAN SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, BARDET-BIEDL SYNDROME 2, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, BARTTER SYNDROME, TYPE 3, HAY-WELLS SYNDROME, D-2-HYDROXYGLUTARIC ACIDURIA, HYPEROXALURIA, PRIMARY, TYPE 1, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, OROFACIODIGITAL SYNDROME I, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, APERT SYNDROME, LONG QT SYNDROME-3, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, WOLFF-PARKINSON-WHITE SYNDROME, STAR SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, {RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ?CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY, GLUCOCORTICOID RESISTANCE, BARAITSER-WINTER SYNDROME 2, PELGER-HUET ANOMALY, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, 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, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, NOONAN SYNDROME 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, VLCAD DEFICIENCY, ATRIAL FIBRILLATION, FAMILIAL, 12, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, FEINGOLD SYNDROME, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, LUJAN-FRYNS SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 4, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, THROMBOCYTHEMIA 3, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CENTRONUCLEAR MYOPATHY 5, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), RESTRICTIVE DERMOPATHY, LETHAL, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, PERLMAN SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIB, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, SPINAL MUSCULAR ATROPHY-1, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CODAS SYNDROME, KABUKI SYNDROME 1, 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, SMITH-KINGSMORE SYNDROME

CALM1, TSC2, FGFR1, LMNA, ACADS, LBR, GNAS, RPL5, ENPP1, SDHA, DNAH14, KIF7, TERT, ERCC6, AGK, WNK1, TGFBR2, ACTC1, CREBBP, LIPT1, DYNC2H1, RAF1, RASA1, ATRX, KL, APOA1, DDX11, CUL3, THRA, HCN4, TNNI3, TAF6, CBL, KCNJ1, JAK2, SPEG, MIB1, MKKS, ROR2, MT-CYB, ABCD4, NDUFA1, TNNT2, RBBP8, TP63, SMC3, GATA1, CAV3, BANF1, AGL, SMAD4, DVL3, CEP290, TPM2, PCK1, AKT1, AIP, STAP1, DNAH1, FANCA, HSPA9, PEX5, XRCC4, ADK, HNRNPK, PIK3R2, PTPN11, LPL, GATA4, DMPK, MT-CO2, D2HGDH, CENPE, PCCA, BRAF, COL4A3, NLRP5, SMAD6, MEF2A, LRP2, MYH9, SARS2, TF, CSRP3, NR3C1, TSC1, PIGR, PDE4D, HADHB, HPGD, FAM58A, TREX1, APOB, NAA10, ACTB, SEMA3E, PIK3CA, PSEN1, PCCB, PDE11A, REN, MYH7, HADH, WT1, IKBKAP, TRNT1, TPK1, BBS2, DLD, AARS2, SF3B4, SOX9, TGFB2, MAP2K2, NPPA, NME1, NOTCH1, MYCN, CBS, EDNRA, NR2F2, SNIP1, GTPBP3, EARS2, CRYAB, MYOM1, RBM10, VPS33B, PRKG1, ACTA2, FGF23, CLCNKB, LIG3, FANCD2, ADD1, KAT6A, SOS2, CALR, DPH1, DNAH8, DNAJB6, FLT4, SMAD9, MYBPC3, GMPPB, TAZ, BMP2, HSD11B2, SMC1A, AKAP9, SOX2, TXNL4A, NAGLU, MUT, ERBB3, COQ9, EGFR, ITPA, CLIC2, SKI, WNK4, SNCA, DHCR24, NF1, AKAP10, NME8, GUCY1A3, MYH6, NDUFV1, PEX1, ACTG1, PRKCSH, NTRK1, GATA6, KMT2D, CFTR, STAT1, KCNJ8, PLG, RBM20, MED12, GBE1, ACTN4, OFD1, SMAD3, ALDH18A1, ESR1, NDUFS2, C10orf2, SKIV2L, ATIC, DYRK1B, DDX59, F2, PKD1, SALL1, IFIH1, CENPF, EFTUD2, ATP6V1B2, AGT, MTHFR, DNAH5, RECQL4, WNT5A, IGHMBP2, FMR1, TNNI3K, FBP1, FANCM, CACNA1B, SPAG1, ABCA1, MTO1, CNBP, PRKAG2, RBPJ, BVES, NUBPL, ACTA1, SMARCA4, LZTR1, IGF2, NT5E, NOS3, ACVRL1, COL1A2, HADHA, PLOD1, PLOD3, PSMB8, ACAD9, TMEM173, SPRY2, NKX2-1, RPS6KA3, STAMBP, DIS3L2, YARS2, HSD17B10, SDHD, SLC22A5, KCNMB1, TGFB1, VHL, SNRPB, KIF1B, PPOX, FN1, KLF1, ATP5A1, PHGDH, RAD51C, TTN, RPS19, PTEN, FGFR3, GSN, FAH, NRAS, SMARCB1, NOS2, PUF60, KCNJ10, MED25, ATP7A, ABCG5, NEK1, SOS1, SGCG, ABCC9, STRADA, APP, RIT1, HRAS, POLG, ACTN2, HTRA1, TRIM37, FLNB, SRCAP, BRCA2, NEK8, CAV1, POLR1A, COL1A1, FMO3, PIGT, GATA5, RNASEH1, PPARG, AGTR1, PRKAR1A, EDN1, RYR2, MYLK2, CLASP1, NEU1, UMPS, ACE, NOS1AP, APOA2, KRAS, RBM8A, WRN, CHKB, CPOX, LMNB1, AGXT, LONP1, GNAI2, MRPL44, IFNG, TSFM, PDE3A, PDGFRA, TGFBR1, ARL6, ACADVL, ADCY5, SEC23B, LRP6, SNTA1, BMPR2, PLIN1, TTR, RET, GJA1, SGCA, MECP2, MYLK, CHD7, DMD, SMARCAL1, NUP155, MTOR, EIF2AK4, NDUFS1, MRPL3, BRCA1, DDX58, TAF2, GYS1, SEC63, SLC25A4, ABCC6, CDKN1C, CHRM3, PLN, FLNA, RAB23, TRPM4, ATP1B1, SCN5A, AHCY, PRKACA, BICC1, AKT3, FGFR2, RPL11, GLUL, FANCC, RTEL1, FLNC, PEX19, SELE, MYH11, ANK2

LONG QT SYNDROME 12, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2, CARDIOMYOPATHY, HYPERTROPHIC, 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, MEDULLARY CYSTIC KIDNEY DISEASE 1, HEMOCHROMATOSIS TYPE 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, 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, GAUCHER DISEASE, TYPE IIIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATRIAL FIBRILLATION, FAMILIAL, 3, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, CARDIOMYOPATHY, DILATED, 3B, LARSEN SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 18, [BILIRUBIN, SERUM LEVEL OF, QTL1], 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, ATRANSFERRINEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, FLOATING-HARBOR SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 4, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ?TETRA-AMELIA SYNDROME, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, VENTRICULAR SEPTAL DEFECT 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, NEUROFIBROMATOSIS, TYPE 1, LONG QT SYNDROME 1, LYSYL HYDROXYLASE 3 DEFICIENCY, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, TYROSINEMIA, TYPE I, KLEEFSTRA SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, TRIFUNCTIONAL PROTEIN DEFICIENCY, GLYCOGEN STORAGE DISEASE IA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, 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, CILIARY DYSKINESIA, PRIMARY, 6, 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}, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, OGDEN SYNDROME, TUBEROUS SCLEROSIS-1, FRAGILE X SYNDROME, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, HYPOPLASTIC LEFT HEART SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MENKES DISEASE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CPT DEFICIENCY, HEPATIC, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, LATERAL MENINGOCELE SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, CARNEY COMPLEX, TYPE 1, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ?CARDIOMYOPATHY, DILATED, 2A, NOONAN SYNDROME 7, DYSAUTONOMIA, FAMILIAL, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MARFAN LIPODYSTROPHY SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, 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, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 9, AORTIC ANEURYSM, FAMILIAL THORACIC 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTH SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, DONNAI-BARROW SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, NEUROFIBROMATOSIS-NOONAN SYNDROME, LEOPARD SYNDROME 3, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, MUCOLIPIDOSIS II ALPHA/BETA, MYXOMA, INTRACARDIAC, KABUKI SYNDROME 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PULMONARY HYPERTENSION, PRIMARY, 2, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, SHPRINTZEN-GOLDBERG SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIOMYOPATHY, DILATED, 1NN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, CUTIS LAXA, AUTOSOMAL DOMINANT 3, CARDIOMYOPATHY, HYPERTROPHIC, 12, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, MULIBREY NANISM, CARDIOMYOPATHY, HYPERTROPHIC, 20, SOTOS SYNDROME 1, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, PRIMARY PULMONARY HYPERTENSION, OCCIPITAL HORN SYNDROME, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALFORMATION OF THE HEART, MALOUF SYNDROME, MUCOLIPIDOSIS III ALPHA/BETA, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, GAUCHER DISEASE, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, FANCONI ANEMIA, COMPLEMENTATION GROUP C, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, NOONAN SYNDROME 8, NON-IMMUNE HYDROPS FETALIS, EVEN-PLUS SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, VENTRICULAR SEPTAL DEFECT 3, DUCHENNE MUSCULAR DYSTROPHY, NOONAN SYNDROME 10, ALAGILLE SYNDROME, 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, 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, BECKWITH-WIEDEMANN SYNDROME, CORNELIA DE LANGE SYNDROME 2, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?GLYCOGEN STORAGE DISEASE XV, LOEYS-DIETZ SYNDROME 5, 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, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, CEROID LIPOFUSCINOSIS, NEURONAL, 3, GELEOPHYSIC DYSPLASIA 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, ADAMS-OLIVER SYNDROME 4, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, 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, GENITOPATELLAR SYNDROME, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ATRIAL FIBRILLATION, FAMILIAL, 6, CPT II DEFICIENCY, LETHAL NEONATAL, 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, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, 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, SC PHOCOMELIA SYNDROME, CARDIOMYOPATHY, DILATED, 1CC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, AORTIC VALVE DISEASE 2, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, SADDAN, JOHANSON-BLIZZARD SYNDROME, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), ALPORT SYNDROME, AUTOSOMAL DOMINANT, CARDIOMYOPATHY, DILATED, 1HH, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, ESSENTIAL HYPERTENSION, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, DIAMOND-BLACKFAN ANEMIA 6, SPONDYLOOCULAR SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, YUNIS-VARON SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, CALCIFICATION OF JOINTS AND ARTERIES, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE I, JERVELL AND LANGE-NIELSEN SYNDROME 1, POLYCYTHEMIA VERA, SOMATIC, ROBERTS SYNDROME, CORNELIA DE LANGE SYNDROME 3, MYOTONIC DYSTROPHY 1, BURN-MCKEOWN SYNDROME, ATRIAL SEPTAL DEFECT 5, OCULOECTODERMAL SYNDROME, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, CARDIAC VALVULAR DYSPLASIA, X-LINKED, BALLER-GEROLD SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, TANGIER DISEASE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, POLYGLUCOSAN BODY DISEASE, ADULT FORM, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, ALAGILLE SYNDROME 2, CORNELIA DE LANGE SYNDROME 1, COENZYME Q10 DEFICIENCY, PRIMARY, 1, ALPORT SYNDROME, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, COPROPORPHYRIA, HARDEROPORPHYRIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SENGERS SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, MCKUSICK-KAUFMAN SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, HAY-WELLS SYNDROME, HYPEROXALURIA, PRIMARY, TYPE 1, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, OROFACIODIGITAL SYNDROME I, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, 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, APERT SYNDROME, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, ?CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY, GLUCOCORTICOID RESISTANCE, MUCOLIPIDOSIS III GAMMA, BARAITSER-WINTER SYNDROME 2, PELGER-HUET ANOMALY, TRANSALDOLASE DEFICIENCY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, STICKLER SYNDROME, TYPE I, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, GLUTARIC ACIDURIA III, SUPRAVALVAR AORTIC STENOSIS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, COENZYME Q10 DEFICIENCY, PRIMARY, 7, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, PETERS-PLUS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SMITH-LEMLI-OPITZ SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ATRIAL FIBRILLATION, FAMILIAL, 7, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, TATTON-BROWN-RAHMAN SYNDROME, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, FEINGOLD SYNDROME, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, LUJAN-FRYNS SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, ATRIOVENTRICULAR SEPTAL DEFECT 4, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ADAMS-OLIVER SYNDROME 3, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, TENORIO SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, SHORT QT SYNDROME 2, THROMBOCYTHEMIA 3, GM1-GANGLIOSIDOSIS, TYPE I, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CENTRONUCLEAR MYOPATHY 5, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1, SECKEL SYNDROME 9, PSEUDOHYPOALDOSTERONISM, TYPE IIB, HYPERTHYROIDISM, NONAUTOIMMUNE, FANCONI ANEMIA, COMPLEMENTATION GROUP L, EHLERS-DANLOS SYNDROME, TYPE IV, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, CARDIOMYOPATHY, DILATED, 1X, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, COENZYME Q10 DEFICIENCY, PRIMARY, 2, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, AORTIC ANEURYSM, FAMILIAL THORACIC 7, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, DIAMOND-BLACKFAN ANEMIA 7, HAMAMY SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, KABUKI SYNDROME 1, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CARDIOMYOPATHY, HYPERTROPHIC, 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, SMITH-KINGSMORE SYNDROME

CALM1, TSC2, PLOD3, CLN3, LMNA, LBR, CUL3, COL3A1, RPL5, EOGT, KCNH2, KDM6A, ENG, ESCO2, PIGO, AGK, G6PC, AGXT, WNK1, TGFBR2, ACTC1, CREBBP, LIPT1, KMT2C, TRMT5, RAF1, SUGCT, RASA1, F13A1, KL, APOA1, POLG2, THRA, MTOR, TNNI3, MGAT2, ALG10, CBL, NR1I3, JAK2, EFTUD2, SPEG, MIB1, TGFB1, MKKS, ROR2, TNNT2, TP63, KMT2A, DNMT3A, SMC3, MT-CO1, GATA1, CAV3, BANF1, AGL, SERPINC1, SUFU, SMAD4, DVL3, CHST14, GYS1, GDF2, HES7, AKT1, AIP, COX15, TWIST1, FANCA, HSPA9, PEX5, XRCC4, ADK, HMBS, PIGN, LRP5, HNRNPK, PIGA, PIK3R2, PTPN11, GMPPA, DMPK, MT-CO2, PDSS1, MED25, NDUFS4, TPK1, FMR1, FKTN, BRAF, FKRP, GATA4, GPX4, SMAD6, MEF2A, FANCL, LRP2, MYH9, SARS2, TF, FBP1, NR3C1, TSC1, HADHB, SKI, UGT1A1, GNPTAB, APOB, TRAIP, CPT2, POMT1, F5, PSEN1, B3GLCT, BAAT, HADH, COL4A5, BAG3, NEK8, DES, KCNE3, DLD, NRAS, GNAI2, SF3B4, FIG4, SOX9, TGFB2, MAP2K2, NPPA, PIGM, NME1, NOTCH1, NEXN, COL4A3, TTC37, FGFR1, NR2F2, MYBPC3, SGCG, GTPBP3, EARS2, CRYAB, MYOM1, JUP, KAT6B, ZMPSTE24, PRKG1, ACTA2, FGF23, LIG3, NUBPL, ADD1, KAT6A, PIGR, PIGV, DPH1, GNPTG, FLT4, SMAD9, SNIP1, MRPS16, GMPPB, TAZ, BMP2, MFAP5, SMC1A, AKAP9, GBE1, TXNL4A, MUT, ERBB3, EGFR, CLIC2, WNK4, SNCA, DHCR24, NF1, COQ4, KCNH1, NME8, MYH6, MTFMT, NDUFS1, ACTG1, B3GAT3, NTRK1, UBR1, KMT2D, DDX58, STAT1, NOTCH2, PLG, TAF2, ACTN4, CHST3, OFD1, SMAD3, ALDH18A1, EXT2, C10orf2, SKIV2L, ATIC, DYRK1B, F2, CENPF, CTSA, MUC1, AGT, TAF6, RECQL4, IRX5, PIGC, ALG1, TNNI3K, PNPLA2, FANCM, PIK3CA, LTBP4, JAG1, HADHA, NAA10, COL2A1, RBPJ, B3GALT6, RARB, ACTA1, ACTB, SMARCA4, NDUFAF6, LZTR1, AKAP10, GPC3, IGF2, NT5E, NOS3, ABCA1, TALDO1, FKBP14, TMEM173, SPRY2, TSHR, NKX2-1, RPS6KA3, STAMBP, KCNA5, GLB1, HSD17B10, SDHD, GALNT3, KCNMB1, GALNT14, VHL, FANCD2, KIF1B, BRCA1, HIBCH, FN1, COQ2, KLF1, FBN1, TERT, TTN, RPS19, PTEN, FGFR3, GSN, CFTR, EHMT1, FAH, LIAS, KCNQ1, SMARCB1, MYH7, NOS2, DPM1, WNT3, KCNJ10, CENPE, ATP7A, XYLT1, NEK1, SOS1, RBCK1, GBA, FASTKD2, STRADA, APP, RIT1, HRAS, POLG, ACTN2, NDUFAF5, AGPAT2, HTRA1, TRIM37, FLNB, SRCAP, BRCA2, TRNT1, CAV1, POLR1A, TAB2, COL1A1, CNBP, PIGT, PPARG, AGTR1, PRKAR1A, EDN1, COX10, MYLK2, CLASP1, NEU1, XYLT2, EMD, UMPS, PTCH1, CHD7, KRAS, NKX2-5, WRN, CHKB, CPOX, LMNB1, TPM3, GYG1, IKBKAP, MRPL44, IFNG, CSRP3, PDGFRA, TGFBR1, MAX, POMT2, NOTCH3, SEC23B, LRP6, SNTA1, BMPR2, PLIN1, TTR, RET, GJA1, SGCA, MECP2, MYLK, TGFB3, DMD, EIF2AK4, WNT5A, MRPL3, DTNBP1, MED12, SLC25A4, CDKN1C, SELE, LDB3, ACVRL1, PLN, HGSNAT, FLNA, HCCS, DHCR7, NSD1, ESR1, PRKACA, GATA5, AKT3, FGFR2, PACS1, CPT1A, RPL11, MYCN, FANCC, ATP5A1, FLNC, PEX19, PNP, DOLK, RNF125, MYH11, ANK2

LOEYS-DIETZ SYNDROME 1, BARAITSER-WINTER SYNDROME 1, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 6, POLYCYTHEMIA VERA, SOMATIC, ROBERTS SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 11, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CPT II DEFICIENCY, LETHAL NEONATAL, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, BECKWITH-WIEDEMANN SYNDROME, THROMBOCYTHEMIA 3, ATRIAL SEPTAL DEFECT 5, CPT DEFICIENCY, HEPATIC, TYPE IA, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, BARTH SYNDROME, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, CPT DEFICIENCY, HEPATIC, TYPE II, ERYTHROCYTOSIS, FAMILIAL, 2, TRIFUNCTIONAL PROTEIN DEFICIENCY, HAJDU-CHENEY SYNDROME, ESSENTIAL HYPERTENSION, COFFIN-SIRIS SYNDROME 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, LIPOYLTRANSFERASE 1 DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), LOEYS-DIETZ SYNDROME 3, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, CORNELIA DE LANGE SYNDROME 3, ADAMS-OLIVER SYNDROME 3, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, SC PHOCOMELIA SYNDROME, GENITOPATELLAR SYNDROME, {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}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ?TETRA-AMELIA SYNDROME, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ALAGILLE SYNDROME 2, OGDEN SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ROBINOW SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, FLOATING-HARBOR SYNDROME, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME

ACTA1, BRCA2, APP, TGFB2, ACTC1, SMARCA4, BAAT, HCCS, SMC3, CPT2, CREBBP, ACTB, F13A1, WNT3, TGFB1, PSEN1, PPARG, AGPAT2, KRAS, F2, TAZ, HADHB, VHL, ANK2, ADD1, NAA10, SRCAP, C10orf2, FN1, HADHA, CPT1A, WNT5A, ACTN4, HGSNAT, JAK2, ESCO2, PNPLA2, KAT6B, TGFBR1, PEX19, KAT6A, CDKN1C, ACTA2, DLD, PEX5, SMAD3, SMAD4, NOTCH2, ESR1, LIPT1, GNAI2, RBPJ, NDUFS1, MTOR, NUBPL

BARAITSER-WINTER SYNDROME 1, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, LONG QT SYNDROME 12, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, BARTTER SYNDROME, TYPE 2, LONG QT SYNDROME 13, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, BARAITSER-WINTER SYNDROME 2, TRANSALDOLASE DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, RENAL GLUCOSURIA, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, SHORT QT SYNDROME 2, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, STORMORKEN SYNDROME, AURICULOCONDYLAR SYNDROME 3, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, PULMONARY HYPERTENSION, PRIMARY, 2, CARDIOMYOPATHY, DILATED, 1E, RENAL TUBULAR DYSGENESIS, BRUGADA SYNDROME 7, ATRIAL FIBRILLATION, FAMILIAL, 16, ATRIAL SEPTAL DEFECT 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATRIAL FIBRILLATION, FAMILIAL, 3, BRUGADA SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PAROXYSMAL EXTREME PAIN DISORDER, ATRIAL FIBRILLATION, FAMILIAL, 7, ATRIAL FIBRILLATION, FAMILIAL, 13, ATRIAL FIBRILLATION, FAMILIAL, 12, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ATRIAL FIBRILLATION, FAMILIAL, 14, LONG QT SYNDROME 6, ESSENTIAL HYPERTENSION, AORTIC ANEURYSM, FAMILIAL THORACIC 8, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, FRONTOMETAPHYSEAL DYSPLASIA, ATRANSFERRINEMIA, LOEYS-DIETZ SYNDROME 3, PRIMARY PULMONARY HYPERTENSION, OCCIPITAL HORN SYNDROME, SICK SINUS SYNDROME 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, ?DYSTONIA 23, JERVELL AND LANGE-NIELSEN SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, CORNELIA DE LANGE SYNDROME 3, TIMOTHY SYNDROME, NOONAN SYNDROME 4, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, DUCHENNE MUSCULAR DYSTROPHY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, HEMOCHROMATOSIS, TYPE 4, PULMONARY HYPERTENSION, PRIMARY, 4, 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, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, 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, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, LEFT VENTRICULAR NONCOMPACTION 1, WITH OR WITHOUT CONGENITAL HEART DEFECTS, SICK SINUS SYNDROME 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, ?PRUNE BELLY SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 11, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, MYOPATHY, DISTAL, 4, HYPERALDOSTERONISM, FAMILIAL, TYPE III, HYPOPLASTIC LEFT HEART SYNDROME 1, MENKES DISEASE, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CARDIOMYOPATHY, HYPERTROPHIC, 17, EPISODIC PAIN SYNDROME, FAMILIAL, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, HETEROTOPIA, PERIVENTRICULAR, MAY-HEGGLIN ANOMALY, ATRIAL FIBRILLATION, FAMILIAL, 10, ?CARDIOMYOPATHY, DILATED, 2A, ULNAR-MAMMARY SYNDROME, BRUGADA SYNDROME 9, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, ATRIAL FIBRILLATION, FAMILIAL, 9, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LONG QT SYNDROME-3, CARDIOMYOPATHY, DILATED, 1V, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, CARDIOMYOPATHY, HYPERTROPHIC, 7, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, CAV1, TNNI3, APOB, PDE4D, ACTB, PSEN1, TBX3, AGT, EDN1, KCNH2, PKD1, RYR2, CACNA1B, KCNE3, EFEMP2, ACTC1, TRPA1, JPH2, RASA1, SCN1B, ERBB3, KCNH1, ATP1B1, NOS3, CACNA1D, FGFR1, KCND3, CALR, KCNJ1, CACNB2, TALDO1, TGFBR1, PRKG1, CACNA1S, HCCS, RYR1, NKX2-1, KCNK3, SMC3, SCN2B, SNTA1, BMPR2, KCNA5, CAV3, STIM1, APP, GJA1, SMAD9, KCNMB1, PSEN2, DMD, KCNJ5, SLC40A1, FN1, SCN4B, CFTR, LDLR, SEC63, LRP2, NOS2, AKT1, PTEN, AKAP10, CHRM3, FLNA, KCNQ1, TRPM4, ACTG1, KCNJ10, TGFB1, PTPN11, SCN5A, ATP7A, ANK2, PRKACA, CACNA1C, KCNJ8, KCNE2, SCN9A, SOS1, ABCC9, SLC5A2, PCSK9, SCN3B, FLNC, KCNJ2, PAM16, EGFR, ACTN2, MYH9, TF, SMAD3, ESR1, DTNA, HCN4

VENTRICULAR SEPTAL DEFECT 3, BASAL CELL NEVUS SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, ADAMS-OLIVER SYNDROME 6, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, AYME-GRIPP SYNDROME, OPITZ GBBB SYNDROME, TYPE II, 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}, ATRIAL SEPTAL DEFECT 9, DYSAUTONOMIA, FAMILIAL, MEDULLARY CYSTIC KIDNEY DISEASE 1, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, VELOCARDIOFACIAL SYNDROME, AURICULOCONDYLAR SYNDROME 3, KABUKI SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DUANE-RADIAL RAY SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, AORTIC VALVE DISEASE 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PULMONARY HYPERTENSION, PRIMARY, 2, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, RENAL TUBULAR DYSGENESIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, NESTOR-GUILLERMO PROGERIA SYNDROME, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MICROPHTHALMIA, SYNDROMIC 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, MOWAT-WILSON SYNDROME, PANCREATIC AND CEREBELLAR AGENESIS, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 12, HEMOCHROMATOSIS, TYPE 2B, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, LUJAN-FRYNS SYNDROME, NAXOS DISEASE, SOTOS SYNDROME 1, FRONTOMETAPHYSEAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MICROPHTHALMIA, SYNDROMIC 12, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, COCKAYNE SYNDROME, TYPE B, HOLT-ORAM SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, 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, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, CHAR SYNDROME, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, KLEEFSTRA SYNDROME, THROMBOCYTHEMIA 3, ATRIAL SEPTAL DEFECT 5, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, DIGEORGE SYNDROME, GLYCOGEN STORAGE DISEASE IA, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, NOONAN SYNDROME 10, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, LIANG DISTAL MYOPATHY, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 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, ?CHARGE SYNDROME, CHARGE SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, VENTRICULAR SEPTAL DEFECT 1, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, CORNELIA DE LANGE SYNDROME 1, ATRIAL STANDSTILL 2, BECKWITH-WIEDEMANN SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 6, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, HYPERTROPHIC, 11, SMITH-MAGENIS SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, HYPOPLASTIC LEFT HEART SYNDROME 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ULNAR-MAMMARY SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, KLIPPEL-FEIL SYNDROME 2, PSEUDOHYPOALDOSTERONISM, TYPE IIE, PSEUDOHYPOALDOSTERONISM, TYPE 2, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, APERT SYNDROME, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CODAS SYNDROME, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, HETEROTOPIA, PERIVENTRICULAR, AU-KLINE SYNDROME, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, F2, POLR1A, COL1A1, CNBP, CUL3, GLI3, RAI1, MUC1, CYP11B2, TBX3, AGT, PPARG, EDN1, WNT5A, TRIP4, MYH7, SALL4, TERT, BCOR, G6PC, WNK1, TGFBR2, ACTC1, SALL1, CREBBP, COL2A1, SPECC1L, DLL4, RARB, PTCH1, APOB, CHD7, MEOX1, SOX2, KDM6A, ERBB3, NKX2-5, NME1, IGF2, NOTCH1, THRA, PTF1A, MTOR, TAF6, CPOX, JAK2, LONP1, IKBKAP, NR1I3, IFNG, CSRP3, JUP, NKX2-1, KAT6B, GDNF, RBPJ, MAX, SPRY2, TP63, KMT2A, TBX1, GLIS3, KAT6A, GDF2, BMPR2, GATA1, BANF1, APP, SOX9, SUFU, SMAD4, SMAD9, CTCF, MECP2, FOXC1, PCK1, BMP2, BRCA1, AKT1, SMARCA4, FOXC2, TBX5, CFTR, TAF2, HNRNPK, TWIST1, SNCA, CDKN1C, HSPA9, PTEN, LZTR1, HAMP, MAF, ZEB2, NPPA, MYH6, FLNA, SMARCB1, NOS2, PEX2, FOXP1, PTRF, TGFB1, KMT2C, PTPN11, GATA6, KMT2D, KLF1, MYH9, NSD1, STAT1, GATA5, TFAP2B, MED12, FGFR2, DNMT3A, WT1, GATA4, ERCC6, SMAD6, RET, MEF2A, FOXF1, CRB2, EGFR, CALR, SMAD3, NR3C1, ESR1, PAX8, SKI

LOEYS-DIETZ SYNDROME 1, BARAITSER-WINTER SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, NON-IMMUNE HYDROPS FETALIS, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, AORTIC ANEURYSM, FAMILIAL THORACIC 6, TANGIER DISEASE, CODAS SYNDROME, HETEROTAXY, VISCERAL, 5, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AORTIC ANEURYSM, FAMILIAL THORACIC 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ESSENTIAL HYPERTENSION, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HEMOCHROMATOSIS, TYPE 2B, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, {VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2}, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, COMPLEMENT FACTOR I DEFICIENCY, LOEYS-DIETZ SYNDROME 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, CARASIL SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, {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}, MYHRE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MYOPATHY, MYOFIBRILLAR, 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, LOEYS-DIETZ SYNDROME 5, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, TUBEROUS SCLEROSIS 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ATRIAL FIBRILLATION, FAMILIAL, 6, GALACTOSIALIDOSIS, PULMONARY HYPERTENSION, PRIMARY, 3, 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, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

NME1, CAV1, APP, SMAD3, APOB, NODAL, PROC, COL1A1, HSD17B10, CREBBP, HABP2, F13A1, FLT4, TGFB1, IGF2, NOS3, TGFB3, F2, AGT, GDF2, BMP2, CTSA, PLG, AKT1, FN1, ABCA1, LDLR, CBL, LONP1, CFI, IFNG, NEU1, TERT, GPX4, PCSK9, NOS2, TGFBR1, DES, C3, HTRA1, FKBP14, COL1A2, EGFR, ACTA2, ACTB, DPP6, MYH11, SMAD4, HAMP, CD46, NPPA, F5, HFE, MTOR, CFB

LONG QT SYNDROME 12, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, BARTTER SYNDROME, TYPE 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SECKEL SYNDROME 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 2, PULMONARY VENOOCCLUSIVE DISEASE 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}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, 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, WARSAW BREAKAGE SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, BRUGADA SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BECKWITH-WIEDEMANN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, 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, SINGLETON-MERTEN SYNDROME 1, ATRIAL SEPTAL DEFECT 9, ATRANSFERRINEMIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FLOATING-HARBOR SYNDROME, LEBER OPTIC ATROPHY, CARDIOMYOPATHY, HYPERTROPHIC, 4, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, VENTRICULAR SEPTAL DEFECT 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, CARPENTER SYNDROME, HAY-WELLS SYNDROME, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP D1, LIPOPROTEIN LIPASE DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, CILIARY DYSKINESIA, PRIMARY, 6, 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, HEMOCHROMATOSIS TYPE 1, OGDEN SYNDROME, TUBEROUS SCLEROSIS-1, FRAGILE X SYNDROME, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, SINGLETON-MERTEN SYNDROME 2, ?DYSTONIA 23, TYROSINEMIA, TYPE I, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MENKES DISEASE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, PSEUDOHYPOALDOSTERONISM, TYPE IIC, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, TARP SYNDROME, CARNEY COMPLEX, TYPE 1, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ?CARDIOMYOPATHY, DILATED, 2A, KARTAGENER SYNDROME, NOONAN SYNDROME 7, DYSAUTONOMIA, FAMILIAL, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HETEROTOPIA, PERIVENTRICULAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, GLUTAMINE DEFICIENCY, CONGENITAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTH SYNDROME, 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, ATRIOVENTRICULAR SEPTAL DEFECT 5, NEUROFIBROMATOSIS-NOONAN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, LEOPARD SYNDROME 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PULMONARY HYPERTENSION, PRIMARY, 2, MYXOMA, INTRACARDIAC, SHPRINTZEN-GOLDBERG SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIOMYOPATHY, DILATED, 1NN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, CUTIS LAXA, AUTOSOMAL DOMINANT 3, CARDIOMYOPATHY, HYPERTROPHIC, 12, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, MULIBREY NANISM, NOONAN SYNDROME 9, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, PRIMARY PULMONARY HYPERTENSION, OCCIPITAL HORN SYNDROME, DENYS-DRASH SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP O, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, AMYLOIDOSIS, FINNISH TYPE, MALFORMATION OF THE HEART, OROFACIODIGITAL SYNDROME V, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, FANCONI ANEMIA, COMPLEMENTATION GROUP C, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NOONAN SYNDROME 8, NON-IMMUNE HYDROPS FETALIS, PSEUDOHYPOALDOSTERONISM, TYPE 2, EVEN-PLUS SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, NOONAN SYNDROME 10, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, BECKER MUSCULAR DYSTROPHY, 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, MOYAMOYA 6 WITH ACHALASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?PRUNE BELLY SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, SESAME SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, GLYCOGEN STORAGE DISEASE 0, MUSCLE, 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, GLYCOGEN STORAGE DISEASE IV, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, COCKAYNE SYNDROME, TYPE B, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, LYMPHEDEMA, HEREDITARY, IA, 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, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CENTRONUCLEAR MYOPATHY 5, AORTIC VALVE DISEASE 2, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, SADDAN, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), ALPORT SYNDROME, AUTOSOMAL DOMINANT, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, 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, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CORNELIA DE LANGE SYNDROME 2, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, OSTEOGENESIS IMPERFECTA, TYPE I, POLYCYTHEMIA VERA, SOMATIC, CORNELIA DE LANGE SYNDROME 3, MYOTONIC DYSTROPHY 1, BURN-MCKEOWN SYNDROME, ATRIAL SEPTAL DEFECT 5, OCULOECTODERMAL SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, CARDIAC VALVULAR DYSPLASIA, X-LINKED, BALLER-GEROLD SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, TANGIER DISEASE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, POLYGLUCOSAN BODY DISEASE, ADULT FORM, CORNELIA DE LANGE SYNDROME 1, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?ATRIAL FIBRILLATION 15, COPROPORPHYRIA, HARDEROPORPHYRIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SENGERS SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, DILATED CARDIOMYOPATHY 1DD, MCKUSICK-KAUFMAN SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, BARDET-BIEDL SYNDROME 2, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, NEUROFIBROMATOSIS, TYPE 1, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PALLISTER-HALL SYNDROME, APERT SYNDROME, LONG QT SYNDROME-3, WOLFF-PARKINSON-WHITE SYNDROME, ?CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY, GLUCOCORTICOID RESISTANCE, BARAITSER-WINTER SYNDROME 2, PELGER-HUET ANOMALY, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BARDET-BIEDL SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, NOONAN SYNDROME 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 12, OCULODENTODIGITAL DYSPLASIA, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, FEINGOLD SYNDROME, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, ATRIOVENTRICULAR SEPTAL DEFECT 4, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ADAMS-OLIVER SYNDROME 3, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, SPINAL MUSCULAR ATROPHY-1, THROMBOCYTHEMIA 3, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, PERLMAN SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIB, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CODAS SYNDROME, KABUKI SYNDROME 1, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ATRIAL FIBRILLATION, FAMILIAL, 10, CARDIOMYOPATHY, HYPERTROPHIC, 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, SMITH-KINGSMORE SYNDROME

CALM1, GATA1, DYRK1B, BRCA2, NEK8, CAV1, EDNRA, POLR1A, KCNJ10, TSC2, MECP2, MTOR, CNBP, NEK1, ACTB, LBR, BANF1, CUL3, KRAS, CENPF, CACNA1B, PSEN1, ANK2, RPL5, NDUFS2, KLF1, F2, NDUFA1, RBBP8, TP63, PCCB, PPARG, DDX59, AGTR1, KAT6A, MRPL44, SELE, PRKAR1A, DNAH14, YARS2, DNAH5, EDN1, APOB, IGHMBP2, NLRP5, MYLK2, FGF23, NDUFS1, KIF7, KIF1B, WT1, RAD51C, ERCC6, TGFBR1, TGFB2, FBP1, UMPS, AGK, PIK3CA, SOS1, WNK1, FAH, SPAG1, RPS19, BBS2, RNASEH1, DLD, AARS2, TGFBR2, ACTC1, HSD17B10, CREBBP, IKBKAP, PRKAG2, LIPT1, GNAI2, RBPJ, SF3B4, NF1, FANCD2, SNIP1, ACTA1, ACE, RASA1, IFIH1, CHD7, MYOM1, KL, APOA1, MAP2K2, BRAF, LZTR1, NME1, LONP1, IGF2, NT5E, ATP1B1, THRA, LMNB1, EARS2, CLASP1, PIGT, CBS, SKIV2L, FGFR1, ACVRL1, NOS3, TAF6, PKD1, MYBPC3, HNRNPK, CPOX, COL1A1, SGCA, ABCA1, IFNG, GTPBP3, CALR, ESR1, CBL, PSMB8, ATRX, KCNJ1, CRYAB, ABCC9, JAK2, TPM2, RBM10, MYLK, VPS33B, NRAS, GNAS, SPEG, NAGLU, FANCC, MIB1, TGFB1, PRKG1, DIS3L2, DYNC2H1, ROR2, MT-CYB, EFTUD2, ABCD4, ATP6V1B2, ACTA2, TNNT2, SMC1A, TRNT1, NKX2-1, RPS6KA3, AGT, LIG3, ADCY5, NUBPL, ADD1, NOTCH1, SMC3, PIK3R2, FANCM, PCK1, BMPR2, PLIN1, CAV3, TTR, SMAD6, DPH1, AGL, GJA1, SOX9, DNAH8, SMAD4, SNRPB, DVL3, MYCN, SLC22A5, FLT4, SMAD9, MKKS, CEP290, MEF2A, KCNMB1, CHRM3, GMPPB, APOA2, TAZ, PEX19, DMD, VHL, BMP2, NUP155, ARL6, SMARCAL1, BRCA1, GLUL, AKT1, FN1, AKAP9, SMARCA4, TXNL4A, AIP, WNT5A, MRPL3, CFTR, MUT, ERBB3, GYS1, SEC63, EGFR, ATP5A1, SLC25A4, LRP2, RAF1, TRPM4, CLIC2, TNNI3K, SPRY2, WNK4, SNTA1, STAP1, SNCA, PCCA, DNAH1, PIGR, CDKN1C, TTN, FANCA, HSPA9, EIF2AK4, PTEN, FGFR3, NPPA, AKAP10, GSN, TSC1, NME8, NAA10, PLN, GUCY1A3, MYH6, ADK, ABCC6, GBE1, PEX1, FLNA, SMAD3, SMARCB1, RAB23, MYH7, NOS2, SEC23B, ACTG1, ALDH18A1, FLNC, PRKCSH, NOS1AP, ABCG5, WRN, CENPE, LPL, SOS2, GATA6, KMT2D, DDX58, ATP7A, NTRK1, DMPK, STAT1, STAMBP, MT-CO2, AHCY, GATA5, RECQL4, KCNJ8, PTPN11, AKT3, ENPP1, C10orf2, TPK1, FMR1, SCN5A, FGFR2, ACTN4, REN, COL4A3, SGCG, RPL11, GATA4, PDGFRA, RTEL1, STRADA, ITPA, APP, RET, RIT1, LRP6, HRAS, POLG, ACTN2, MYH9, SARS2, PRKACA, TF, CSRP3, MYH11, TERT, NR3C1, CHKB, TNNI3, DDX11, SKI, TRIM37, FLNB, PEX5, ATIC, SRCAP

VENTRICULAR SEPTAL DEFECT 3, BASAL CELL NEVUS SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, ADAMS-OLIVER SYNDROME 6, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, AYME-GRIPP SYNDROME, OPITZ GBBB SYNDROME, TYPE II, 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}, ATRIAL SEPTAL DEFECT 9, DYSAUTONOMIA, FAMILIAL, MEDULLARY CYSTIC KIDNEY DISEASE 1, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, VELOCARDIOFACIAL SYNDROME, AURICULOCONDYLAR SYNDROME 3, KABUKI SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DUANE-RADIAL RAY SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, AORTIC VALVE DISEASE 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PULMONARY HYPERTENSION, PRIMARY, 2, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, RENAL TUBULAR DYSGENESIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, NESTOR-GUILLERMO PROGERIA SYNDROME, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MICROPHTHALMIA, SYNDROMIC 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, MOWAT-WILSON SYNDROME, PANCREATIC AND CEREBELLAR AGENESIS, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 12, HEMOCHROMATOSIS, TYPE 2B, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, EHLERS-DANLOS SYNDROME, TYPE 3, LUJAN-FRYNS SYNDROME, NAXOS DISEASE, SOTOS SYNDROME 1, FRONTOMETAPHYSEAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MICROPHTHALMIA, SYNDROMIC 12, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, COCKAYNE SYNDROME, TYPE B, HOLT-ORAM SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, 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, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, CHAR SYNDROME, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, KLEEFSTRA SYNDROME, THROMBOCYTHEMIA 3, ATRIAL SEPTAL DEFECT 5, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, DIGEORGE SYNDROME, GLYCOGEN STORAGE DISEASE IA, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, NOONAN SYNDROME 10, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, LIANG DISTAL MYOPATHY, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, 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, ?CHARGE SYNDROME, CHARGE SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, VENTRICULAR SEPTAL DEFECT 1, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, CORNELIA DE LANGE SYNDROME 1, ATRIAL STANDSTILL 2, BECKWITH-WIEDEMANN SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 6, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, HYPERTROPHIC, 11, SMITH-MAGENIS SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, HYPOPLASTIC LEFT HEART SYNDROME 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ULNAR-MAMMARY SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, KLIPPEL-FEIL SYNDROME 2, PSEUDOHYPOALDOSTERONISM, TYPE IIE, PSEUDOHYPOALDOSTERONISM, TYPE 2, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, APERT SYNDROME, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CODAS SYNDROME, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, HETEROTOPIA, PERIVENTRICULAR, AU-KLINE SYNDROME, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, F2, POLR1A, COL1A1, CNBP, CUL3, GLI3, RAI1, MUC1, CYP11B2, TBX3, AGT, PPARG, EDN1, WNT5A, TRIP4, MYH7, SALL4, TERT, BCOR, G6PC, WNK1, TGFBR2, ACTC1, SALL1, CREBBP, COL2A1, SPECC1L, DLL4, RARB, PTCH1, APOB, CHD7, MEOX1, SOX2, KDM6A, ERBB3, NKX2-5, NME1, IGF2, NOTCH1, THRA, PTF1A, MTOR, TAF6, CPOX, JAK2, LONP1, IKBKAP, NR1I3, IFNG, CSRP3, JUP, NKX2-1, KAT6B, GDNF, RBPJ, MAX, SPRY2, TP63, KMT2A, TBX1, GLIS3, KAT6A, GDF2, BMPR2, GATA1, BANF1, APP, SOX9, SUFU, SMAD4, SMAD9, CTCF, MECP2, FOXC1, PCK1, BMP2, BRCA1, AKT1, SMARCA4, FOXC2, TBX5, CFTR, TAF2, HNRNPK, TWIST1, SNCA, CDKN1C, HSPA9, PTEN, LZTR1, HAMP, MAF, ZEB2, NPPA, MYH6, FLNA, SMARCB1, NOS2, PEX2, FOXP1, PTRF, TGFB1, KMT2C, PTPN11, GATA6, KMT2D, KLF1, MYH9, NSD1, STAT1, GATA5, TFAP2B, MED12, FGFR2, DNMT3A, WT1, GATA4, ERCC6, SMAD6, RET, MEF2A, FOXF1, CRB2, EGFR, CALR, SMAD3, NR3C1, ESR1, PAX8, SKI

ATRIOVENTRICULAR SEPTAL DEFECT 3, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, OCULODENTODIGITAL DYSPLASIA, AORTIC ANEURYSM, FAMILIAL THORACIC 8, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, HYPERTENSION AND BRACHYDACTYLY SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MELNICK-NEEDLES SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SUPRAVALVAR AORTIC STENOSIS, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MYXOMA, INTRACARDIAC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HETEROTOPIA, PERIVENTRICULAR, SICK SINUS SYNDROME 2, PROTEUS SYNDROME, SOMATIC

TMEM173, PDE4D, FLNA, CFTR, PRKACA, PRKG1, GJA1, PDE3A, PRKAR1A, PDE11A, HCN4, AKT1, BVES, HRAS

BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, WOLFF-PARKINSON-WHITE SYNDROME, STAR SYNDROME, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, AORTIC ANEURYSM, FAMILIAL THORACIC 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ATRIAL FIBRILLATION, FAMILIAL, 3, 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}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, TRANSALDOLASE DEFICIENCY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, WERNER SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, ALPHA-THALASSEMIA/MENTAL RETARDATION 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}, HERMANSKY-PUDLAK SYNDROME 1, LEOPARD SYNDROME 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, SUPRAVALVAR AORTIC STENOSIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, FRONTOMETAPHYSEAL DYSPLASIA, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MYXOMA, INTRACARDIAC, CARDIOMYOPATHY, DILATED, 1E, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, CARDIOMYOPATHY, HYPERTROPHIC, 3, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, SHPRINTZEN-GOLDBERG SYNDROME, BRUGADA SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NOONAN SYNDROME 10, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MOWAT-WILSON SYNDROME, ESSENTIAL HYPERTENSION, CARDIOMYOPATHY, HYPERTROPHIC, 18, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CARDIOMYOPATHY, HYPERTROPHIC, 25, EHLERS-DANLOS SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 6, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, CHOANAL ATRESIA AND LYMPHEDEMA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, SICK SINUS SYNDROME 1, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, FINNISH TYPE, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYOPATHY, DISTAL, TATEYAMA TYPE, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, COFFIN-LOWRY SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, ?DYSTONIA 23, JERVELL AND LANGE-NIELSEN SYNDROME 1, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SHORT QT SYNDROME 2, HETEROTOPIA, PERIVENTRICULAR, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, LEFT VENTRICULAR NONCOMPACTION 7, COFFIN-SIRIS SYNDROME 4, CARDIOMYOPATHY, HYPERTROPHIC 6, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CORNELIA DE LANGE SYNDROME 3, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 9, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, COWDEN SYNDROME 7, ATRIAL FIBRILLATION, FAMILIAL, 7, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MYOPATHY, MYOFIBRILLAR, 4, BECKER MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, 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, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, TUBEROUS SCLEROSIS-1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRAGILE X SYNDROME, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, AORTIC ANEURYSM, FAMILIAL THORACIC 6, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, STICKLER SYNDROME, TYPE I, CARNEY COMPLEX, TYPE 1, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, CARDIOMYOPATHY, DILATED, 1U, ?CARDIOMYOPATHY, DILATED, 2A, ULNAR-MAMMARY SYNDROME, KARTAGENER SYNDROME, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, CARDIOMYOPATHY, HYPERTROPHIC, 7, AORTIC ANEURYSM, FAMILIAL THORACIC 7, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE 0, MUSCLE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LONG QT SYNDROME-3, ATRIAL FIBRILLATION, FAMILIAL, 6, CARDIOMYOPATHY, DILATED, 1II, DIAMOND-BLACKFAN ANEMIA 1, ATRIAL FIBRILLATION, FAMILIAL, 10, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, KCNA5, TSC2, CAV1, TNNI3, APOB, TAB2, SALL1, ACTB, PIK3CA, PSEN1, ANK2, RPL5, TBX3, AGT, PPARG, AGTR1, PRKAR1A, EDN1, PKD1, RYR2, PTPN14, FMR1, FAM58A, CACNA1B, WNK1, EFEMP2, TGFBR2, CREBBP, PRKAG2, GNAI2, RBPJ, SF3B4, PTEN, SOX9, RASA1, TPM1, SMARCA4, DSP, MAP2K2, LZTR1, NME1, WRN, NOS3, TPM3, EDNRA, CHRM3, NR2F2, MECP2, CBL, COL2A1, JAK2, MYLK, JUP, NKX2-1, MIB1, PRKG1, TMEM173, EFTUD2, SPRY2, ACTA2, TALDO1, RPS6KA3, SEC23B, SMC3, GATA1, CAV3, TGFBR1, GJA1, SUFU, SMAD4, DVL3, GHR, STAT1, TGFB3, FLNA, DMD, USP9X, BRCA1, FN1, AKAP9, SOX2, WNT5A, MRPL3, CFTR, GYS1, EGFR, RAF1, AKT1, SNCA, TERT, TTN, RPS19, LDB3, NPPA, GSN, ACVRL1, PLN, ZEB2, MYH6, CCNO, KCNQ1, MYH11, SMARCB1, NOS2, PRKCSH, TGFB1, PTRF, PTPN11, SCN5A, GATA6, DTNBP1, MYH9, TSC1, PRKACA, GATA5, NOTCH1, ATRX, SOS1, BRAF, CRYAB, CACNA1S, APP, MEF2A, LRP6, HRAS, LRP2, ACTN2, SELE, CALR, TCAP, SMAD3, NR3C1, ESR1, PKP2, MTOR, SKI

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, BASAL CELL NEVUS SYNDROME, WOLFF-PARKINSON-WHITE SYNDROME, STAR SYNDROME, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, AORTIC ANEURYSM, FAMILIAL THORACIC 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ATRIAL FIBRILLATION, FAMILIAL, 3, 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}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, TRANSALDOLASE DEFICIENCY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, WERNER SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, ALPHA-THALASSEMIA/MENTAL RETARDATION 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}, HERMANSKY-PUDLAK SYNDROME 1, LEOPARD SYNDROME 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, SUPRAVALVAR AORTIC STENOSIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, FRONTOMETAPHYSEAL DYSPLASIA, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MYXOMA, INTRACARDIAC, CARDIOMYOPATHY, DILATED, 1E, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, CARDIOMYOPATHY, HYPERTROPHIC, 3, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, SHPRINTZEN-GOLDBERG SYNDROME, BRUGADA SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, CARDIOMYOPATHY, DILATED, 1NN, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NOONAN SYNDROME 10, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MOWAT-WILSON SYNDROME, ESSENTIAL HYPERTENSION, CARDIOMYOPATHY, HYPERTROPHIC, 18, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CARDIOMYOPATHY, HYPERTROPHIC, 25, EHLERS-DANLOS SYNDROME, TYPE 3, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, LOEYS-DIETZ SYNDROME 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, CHOANAL ATRESIA AND LYMPHEDEMA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, CARDIOMYOPATHY, HYPERTROPHIC 6, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, SICK SINUS SYNDROME 1, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, AMYLOIDOSIS, FINNISH TYPE, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BARAITSER-WINTER SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, COFFIN-LOWRY SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, ?DYSTONIA 23, JERVELL AND LANGE-NIELSEN SYNDROME 1, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SHORT QT SYNDROME 2, HETEROTOPIA, PERIVENTRICULAR, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, LEFT VENTRICULAR NONCOMPACTION 7, COFFIN-SIRIS SYNDROME 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CORNELIA DE LANGE SYNDROME 3, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 9, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, COWDEN SYNDROME 7, ATRIAL FIBRILLATION, FAMILIAL, 7, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MYOPATHY, MYOFIBRILLAR, 4, BECKER MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, 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, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, TUBEROUS SCLEROSIS-1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRAGILE X SYNDROME, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, CORNELIA DE LANGE SYNDROME 1, ROBINOW SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, AORTIC ANEURYSM, FAMILIAL THORACIC 6, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, STICKLER SYNDROME, TYPE I, CARNEY COMPLEX, TYPE 1, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, CARDIOMYOPATHY, DILATED, 1U, ?CARDIOMYOPATHY, DILATED, 2A, ULNAR-MAMMARY SYNDROME, KARTAGENER SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, CARDIOMYOPATHY, HYPERTROPHIC, 7, AORTIC ANEURYSM, FAMILIAL THORACIC 7, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE 0, MUSCLE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LONG QT SYNDROME-3, ATRIAL FIBRILLATION, FAMILIAL, 6, CARDIOMYOPATHY, DILATED, 1II, DIAMOND-BLACKFAN ANEMIA 1, ATRIAL FIBRILLATION, FAMILIAL, 10, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, KCNA5, TSC2, CAV1, TNNI3, APOB, TAB2, SALL1, ACTB, PIK3CA, PSEN1, ANK2, RPL5, TBX3, AGT, PPARG, AGTR1, SOX2, PRKAR1A, EDN1, PKD1, RYR2, KMT2A, PTPN14, FMR1, FAM58A, CACNA1B, WNK1, EFEMP2, TGFBR2, CREBBP, PRKAG2, GNAI2, RBPJ, SF3B4, PTEN, SOX9, RASA1, TPM1, KRAS, DSP, MAP2K2, LZTR1, NME1, WRN, NOS3, TPM3, EDNRA, CHRM3, NR2F2, TAF6, MECP2, CBL, COL2A1, JAK2, MYLK, JUP, NKX2-1, MIB1, PRKG1, TMEM173, SPRY2, ACTA2, TALDO1, RPS6KA3, SEC23B, SMC3, GATA1, CAV3, TGFBR1, GJA1, SUFU, SMAD4, DVL3, GHR, STAT1, TGFB3, FLNA, DMD, USP9X, BRCA1, FN1, AKAP9, SMARCA4, MAX, WNT5A, MRPL3, CFTR, GYS1, EGFR, RAF1, AKT1, SNCA, TERT, TTN, RPS19, LDB3, NPPA, PTPN22, GSN, ACVRL1, PLN, ZEB2, MYH6, CCNO, KCNQ1, MYH11, SMARCB1, NOS2, PRKCSH, TGFB1, PTRF, PTPN11, SCN5A, GATA6, DTNBP1, MYH9, TSC1, PRKACA, GATA5, NOTCH1, ATRX, SOS1, BRAF, CRYAB, CACNA1S, STRADA, APP, MEF2A, LRP6, HRAS, LRP2, ACTN2, SELE, CALR, TCAP, SMAD3, NR3C1, ESR1, PKP2, MTOR, SKI

LOEYS-DIETZ SYNDROME 1, BARAITSER-WINTER SYNDROME 1, JERVELL AND LANGE-NIELSEN SYNDROME 1, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, DILATED, 1NN, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SHORT QT SYNDROME 2, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ATRIAL FIBRILLATION, FAMILIAL, 3, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CARDIOMYOPATHY, HYPERTROPHIC, 16, COFFIN-SIRIS SYNDROME 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, NAXOS DISEASE, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, MYOPATHY, DISTAL, 4, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, LONG QT SYNDROME 14, CORNELIA DE LANGE SYNDROME 3, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GLYCOGEN STORAGE DISEASE 0, MUSCLE, SUPRAVALVAR AORTIC STENOSIS, LOEYS-DIETZ SYNDROME 2, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, PULMONARY HYPERTENSION, PRIMARY, 3, CARDIOMYOPATHY, HYPERTROPHIC, 3, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CORNELIA DE LANGE SYNDROME 2, LONG QT SYNDROME 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, SHOC2, MYOZ2, CAV1, KCNQ1, SMARCA4, ACTG1, TPM1, FLNC, FLT4, AKT1, NOS3, GYS1, TPM3, PTPN11, MTOR, SMC1A, KRAS, TERT, JUP, TGFBR1, ACTN2, SOS1, HRAS, EGFR, SPRY2, ACTA2, ACTB, TGFBR2, MYH11, SMC3, RAF1

LOEYS-DIETZ SYNDROME 1, ATRIOVENTRICULAR SEPTAL DEFECT 3, JERVELL AND LANGE-NIELSEN SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, DILATED, 1NN, CARDIOMYOPATHY, HYPERTROPHIC, 11, SHORT QT SYNDROME 2, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ATRIAL SEPTAL DEFECT 5, OCULODENTODIGITAL DYSPLASIA, OCULOECTODERMAL SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CARDIOMYOPATHY, HYPERTROPHIC, 16, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, OSTEOGENESIS IMPERFECTA, TYPE II, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, OSTEOGENESIS IMPERFECTA, TYPE I, ATRIAL FIBRILLATION, FAMILIAL, 3, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, COFFIN-SIRIS SYNDROME 4, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, NAXOS DISEASE, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, BARAITSER-WINTER SYNDROME 1, CLOVE SYNDROME, SOMATIC, CORNELIA DE LANGE SYNDROME 3, MYOPATHY, DISTAL, 4, NOONAN SYNDROME 4, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LONG QT SYNDROME 14, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, CARDIOMYOPATHY, HYPERTROPHIC, 3, HYPOPLASTIC LEFT HEART SYNDROME 1, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE 0, MUSCLE, SUPRAVALVAR AORTIC STENOSIS, DIAMOND-BLACKFAN ANEMIA 7, LOEYS-DIETZ SYNDROME 2, PSEUDOHYPOALDOSTERONISM, TYPE IIC, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, TUBEROUS SCLEROSIS 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, LOEYS-DIETZ SYNDROME 3, PULMONARY HYPERTENSION, PRIMARY, 3, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, RUBINSTEIN-TAYBI SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, CORNELIA DE LANGE SYNDROME 2, LONG QT SYNDROME 1, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, TSC2, MYOZ2, CAV1, KCNQ1, MYH11, GJA1, SMAD3, COL1A1, SMAD4, PTEN, ACTG1, TPM1, SHOC2, FLNC, FLT4, AKT1, NOS3, SMARCA4, GYS1, TPM3, PRKACA, WNK1, MTOR, SMC1A, AKAP9, KRAS, ACTN4, RPL11, TERT, JUP, TGFBR1, ACTN2, PIK3CA, SOS1, HRAS, EGFR, SPRY2, ACTA2, ACTB, RAF1, ACTC1, CREBBP, PTPN11, SMC3, TGFBR2

BARAITSER-WINTER SYNDROME 1, ?DYSTONIA 23, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, LONG QT SYNDROME 12, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, DIGEORGE SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, COCKAYNE SYNDROME, TYPE A, GLUTAMINE DEFICIENCY, CONGENITAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, DONNAI-BARROW SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, MYOTONIC DYSTROPHY 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PULMONARY VENOOCCLUSIVE DISEASE 1, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, LYMPHEDEMA, HEREDITARY, IA, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, WERNER SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, DANON DISEASE, DYSAUTONOMIA, FAMILIAL, HERMANSKY-PUDLAK SYNDROME 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, MEDULLARY CYSTIC KIDNEY DISEASE 1, SUPRAVALVAR AORTIC STENOSIS, FAMILIAL MEDITERRANEAN FEVER, AR, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, AORTIC VALVE DISEASE 2, OGDEN SYNDROME, MYXOMA, INTRACARDIAC, CARDIOMYOPATHY, DILATED, 1E, RUBINSTEIN-TAYBI SYNDROME, SESAME SYNDROME, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, RENAL TUBULAR DYSGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CARDIOMYOPATHY, HYPERTROPHIC, 3, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, 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, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PULMONARY HYPERTENSION, PRIMARY, 3, 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, ATRIAL SEPTAL DEFECT 8, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, SICK SINUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC, 22, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4, CARDIOMYOPATHY, DILATED, 1KK, HETEROTOPIA, PERIVENTRICULAR, ESSENTIAL HYPERTENSION, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CARDIOMYOPATHY, HYPERTROPHIC, 25, EHLERS-DANLOS SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 6, LUJAN-FRYNS SYNDROME, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, FRONTOMETAPHYSEAL DYSPLASIA, VELOCARDIOFACIAL SYNDROME, LOEYS-DIETZ SYNDROME 3, FRANK-TER HAAR SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, DENYS-DRASH SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 4, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, ?TETRA-AMELIA SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 7, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, SERKAL SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, COFFIN-LOWRY SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, PELGER-HUET ANOMALY, PALLISTER-HALL SYNDROME, CORNELIA DE LANGE SYNDROME 3, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, BURN-MCKEOWN SYNDROME, 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, VENTRICULAR SEPTAL DEFECT 3, LIPOPROTEIN LIPASE DEFICIENCY, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, 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), NOONAN SYNDROME 10, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, OSTEOGENESIS IMPERFECTA, TYPE XIII, TRICHOHEPATOENTERIC SYNDROME 2, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, BECKER MUSCULAR DYSTROPHY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CORNELIA DE LANGE SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, ALAGILLE SYNDROME 2, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPERTHYROIDISM, NONAUTOIMMUNE, OPITZ GBBB SYNDROME, TYPE I, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, LEFT VENTRICULAR NONCOMPACTION 1, WITH OR WITHOUT CONGENITAL HEART DEFECTS, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, ?PRUNE BELLY SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, HYPERTROPHIC, 11, RENPENNING SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, COMBINED HYPERLIPIDEMIA, FAMILIAL, VENTRICULAR SEPTAL DEFECT 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HAY-WELLS SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, CARNEY COMPLEX, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ATRIOVENTRICULAR SEPTAL DEFECT 5, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, CARDIOMYOPATHY, DILATED, 1U, ?CARDIOMYOPATHY, DILATED, 2A, {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}, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, KLIPPEL-FEIL SYNDROME 2, 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, MYHRE SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, GENITOPATELLAR SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LONG QT SYNDROME-3, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, LEOPARD SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ATRIAL FIBRILLATION, FAMILIAL, 10, SMITH-KINGSMORE SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, KCNA5, PDE4D, RPL5, CAV1, TNNI3, WNT5A, KCNJ10, TAB2, COL1A1, NAA10, ACTB, LBR, CUL3, CENPF, CACNA1B, CTSA, SMARCA4, CACNA1C, NRXN1, F2, AGT, AGTR1, PRKAR1A, EDN1, GJA1, PLG, WT1, MYL3, CLASP1, GATA4, TGFBR1, FBP1, PTPN11, DES, PIK3CA, SOS1, NOTCH1, EFEMP2, MEFV, TGFBR2, ACTC1, SALL1, CREBBP, GNAI2, RBPJ, SF3B4, PTEN, ACTA1, SOX9, RASA1, TPM1, DDC, MEOX1, KRAS, ERBB3, MAP2K2, NKX2-5, PTPN22, NOTCH2, WRN, GNAS, NOS3, THRA, SMARCB1, GDNF, SKIV2L, EDNRA, MID1, NR2F2, TAF6, PKD1, MECP2, CITED2, MYPN, CALR, CBL, IKBKAP, MRPL44, PSEN1, JAK2, EFTUD2, JUP, LRP5, AVPR2, KAT6B, MIB1, PRKG1, MAX, SPRY2, TSHR, RPS6KA3, TP63, ERCC8, ADD1, SMC3, SNTA1, BMPR2, GATA1, CAV3, BANF1, SMAD6, BMP1, SMAD4, DVL3, SLC22A5, FLT4, PEX19, MYBPC3, MYLK, CHD7, DMD, PQBP1, BMP2, BRCA1, MTOR, AKT1, AKAP9, SOX2, TXNL4A, AIP, MRPL3, DTNBP1, TAF2, EGFR, SH3PXD2B, HNRNPK, GLI3, TWIST1, FN1, SNCA, TERT, PEX5, LAMP2, LZTR1, AKAP10, GSN, CHRM3, EHMT1, TCAP, ARHGAP31, FLNA, SMAD3, FZD6, NOS2, ACTG1, PIK3R2, TGFB1, WNT3, CENPE, LPL, GATA6, MUC1, CFTR, MYH9, DMPK, STAT1, NEB, PRKACA, GATA5, MED25, ATRX, FADD, MED12, SCN5A, NIPBL, ACTN4, TBX1, COL4A3, SGCG, RPL11, GLUL, PDGFRA, PCSK9, APP, RET, MEF2A, LRP6, HRAS, LRP2, ACTN2, WNT4, ADAM17, EPOR, MYH11, NR3C1, ESR1, ATIC, DTNA, RYR1, SKI

LONG QT SYNDROME 12, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, BARTTER SYNDROME, TYPE 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SECKEL SYNDROME 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 2, PULMONARY VENOOCCLUSIVE DISEASE 1, CARASIL 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}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, 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, WARSAW BREAKAGE SYNDROME, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, BRUGADA SYNDROME 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BECKWITH-WIEDEMANN SYNDROME, SICK SINUS SYNDROME 2, CARDIOMYOPATHY, DILATED, 3B, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, 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, SINGLETON-MERTEN SYNDROME 1, ATRIAL SEPTAL DEFECT 9, ATRANSFERRINEMIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FLOATING-HARBOR SYNDROME, LEBER OPTIC ATROPHY, CARDIOMYOPATHY, HYPERTROPHIC, 4, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, VENTRICULAR SEPTAL DEFECT 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, CARPENTER SYNDROME, HAY-WELLS SYNDROME, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NESTOR-GUILLERMO PROGERIA SYNDROME, ?ATRIAL FIBRILLATION 15, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, LIPOPROTEIN LIPASE DEFICIENCY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, CILIARY DYSKINESIA, PRIMARY, 6, 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, HEMOCHROMATOSIS TYPE 1, OGDEN SYNDROME, TUBEROUS SCLEROSIS-1, 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}, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MENKES DISEASE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, PSEUDOHYPOALDOSTERONISM, TYPE IIC, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, TARP SYNDROME, CARNEY COMPLEX, TYPE 1, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ?CARDIOMYOPATHY, DILATED, 2A, KARTAGENER SYNDROME, NOONAN SYNDROME 7, DYSAUTONOMIA, FAMILIAL, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HETEROTOPIA, PERIVENTRICULAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, GLUTAMINE DEFICIENCY, CONGENITAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTH SYNDROME, 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, ATRIOVENTRICULAR SEPTAL DEFECT 5, NEUROFIBROMATOSIS-NOONAN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, LEOPARD SYNDROME 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PULMONARY HYPERTENSION, PRIMARY, 2, MYXOMA, INTRACARDIAC, SHPRINTZEN-GOLDBERG SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIOMYOPATHY, DILATED, 1NN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, CUTIS LAXA, AUTOSOMAL DOMINANT 3, CARDIOMYOPATHY, HYPERTROPHIC, 12, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, MULIBREY NANISM, NOONAN SYNDROME 9, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, PRIMARY PULMONARY HYPERTENSION, OCCIPITAL HORN SYNDROME, DENYS-DRASH SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP O, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, AMYLOIDOSIS, FINNISH TYPE, MALFORMATION OF THE HEART, OROFACIODIGITAL SYNDROME V, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, FANCONI ANEMIA, COMPLEMENTATION GROUP C, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NOONAN SYNDROME 8, NON-IMMUNE HYDROPS FETALIS, PSEUDOHYPOALDOSTERONISM, TYPE 2, EVEN-PLUS SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, NOONAN SYNDROME 10, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, BECKER MUSCULAR DYSTROPHY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, 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, MOYAMOYA 6 WITH ACHALASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ?PRUNE BELLY SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2X, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, SESAME SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, GLYCOGEN STORAGE DISEASE 0, MUSCLE, 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, GLYCOGEN STORAGE DISEASE IV, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, COCKAYNE SYNDROME, TYPE B, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, LYMPHEDEMA, HEREDITARY, IA, 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, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, AORTIC VALVE DISEASE 2, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, SADDAN, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), ALPORT SYNDROME, AUTOSOMAL DOMINANT, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, 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, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CORNELIA DE LANGE SYNDROME 2, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, OSTEOGENESIS IMPERFECTA, TYPE I, POLYCYTHEMIA VERA, SOMATIC, CORNELIA DE LANGE SYNDROME 3, MYOTONIC DYSTROPHY 1, BURN-MCKEOWN SYNDROME, ATRIAL SEPTAL DEFECT 5, OCULOECTODERMAL SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, CARDIAC VALVULAR DYSPLASIA, X-LINKED, BALLER-GEROLD SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, TANGIER DISEASE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, POLYGLUCOSAN BODY DISEASE, ADULT FORM, CORNELIA DE LANGE SYNDROME 1, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, CHILBLAIN LUPUS, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), COPROPORPHYRIA, HARDEROPORPHYRIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SENGERS SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, MCKUSICK-KAUFMAN SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, BARDET-BIEDL SYNDROME 2, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, BARTTER SYNDROME, TYPE 3, NEUROFIBROMATOSIS, TYPE 1, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, OROFACIODIGITAL SYNDROME I, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PALLISTER-HALL SYNDROME, APERT SYNDROME, LONG QT SYNDROME-3, WOLFF-PARKINSON-WHITE SYNDROME, ?CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY, GLUCOCORTICOID RESISTANCE, BARAITSER-WINTER SYNDROME 2, PELGER-HUET ANOMALY, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BARDET-BIEDL SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, NOONAN SYNDROME 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 12, OCULODENTODIGITAL DYSPLASIA, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, FEINGOLD SYNDROME, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, ATRIOVENTRICULAR SEPTAL DEFECT 4, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, THROMBOCYTHEMIA 3, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CENTRONUCLEAR MYOPATHY 5, HYPERTENSION AND BRACHYDACTYLY SYNDROME, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, PERLMAN SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIB, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, SPINAL MUSCULAR ATROPHY-1, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CODAS SYNDROME, KABUKI SYNDROME 1, 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, SMITH-KINGSMORE SYNDROME

CALM1, GATA1, DYRK1B, BRCA2, NEK8, CAV1, TREX1, EDNRA, POLR1A, KCNJ10, TNNI3K, PDE4D, MECP2, MTOR, CNBP, NEK1, ACTB, LBR, BANF1, CUL3, KRAS, CENPF, CACNA1B, PSEN1, ANK2, RPL5, NDUFS2, KLF1, F2, NDUFA1, RBBP8, TP63, PCCB, PPARG, DDX59, PDE11A, PIGT, MRPL44, SELE, PRKAR1A, DNAH14, YARS2, DNAH5, EDN1, APOB, SOS1, IGHMBP2, NLRP5, MYLK2, FGF23, NDUFS1, KIF7, KIF1B, WT1, RAD51C, ERCC6, TGFBR1, TGFB2, FBP1, UMPS, AGK, PIK3CA, PTPN11, WNK1, FAH, SPAG1, RPS19, BBS2, RNASEH1, DLD, AARS2, TGFBR2, ACTC1, HSD17B10, CREBBP, IKBKAP, PRKAG2, LIPT1, GNAI2, RBPJ, SF3B4, NF1, FANCD2, SNIP1, ACTA1, ACE, RASA1, NOS1AP, CHD7, KL, APOA1, MAP2K2, BRAF, LZTR1, NME1, LONP1, IGF2, AGTR1, NT5E, ATP1B1, THRA, LMNB1, EARS2, CLASP1, FANCC, CBS, HCN4, FGFR1, ACVRL1, NOS3, TAF6, PKD1, MYBPC3, HNRNPK, CPOX, COL1A1, SGCA, ABCA1, MYOM1, GTPBP3, CALR, ESR1, CBL, PSMB8, ATRX, KCNJ1, CRYAB, ABCC9, JAK2, TPM2, RBM10, MYLK, PDE3A, NRAS, GNAS, SPEG, NAGLU, PDGFRA, MIB1, MKKS, TGFB1, PRKG1, DIS3L2, DYNC2H1, ROR2, TMEM173, MT-CYB, EFTUD2, ABCD4, ATP6V1B2, ACTA2, IFIH1, SMC1A, TRNT1, NKX2-1, RPS6KA3, AGT, LIG3, ADCY5, NUBPL, ADD1, CLCNKB, SMC3, PIK3R2, FANCM, DMD, BMPR2, PLIN1, CAV3, TTR, SMAD6, DPH1, AGL, GJA1, SOX9, DNAH8, SMAD4, IFNG, NUP155, DVL3, MYCN, SLC22A5, FLT4, SMAD9, MEF2A, CEP290, BVES, KCNMB1, CHRM3, GMPPB, APOA2, TAZ, PCK1, VHL, BMP2, PEX5, ARL6, SMARCAL1, TSC2, BRCA1, GLUL, AKT1, FN1, AKAP9, SMARCA4, TXNL4A, AIP, WNT5A, MRPL3, CFTR, MUT, ERBB3, GYS1, SEC63, EGFR, ATP5A1, PEX19, LRP2, RAF1, TNNT2, TRPM4, CLIC2, VPS33B, SPRY2, WNK4, SNTA1, NOTCH1, STAP1, SNCA, PCCA, DNAH1, CDKN1C, TTN, FANCA, HSPA9, EIF2AK4, PTEN, FGFR3, NPPA, AKAP10, GSN, TSC1, NME8, NAA10, PLN, GUCY1A3, MYH6, ADK, ABCC6, SKI, GBE1, PEX1, SMAD3, FLNA, HTRA1, SMARCB1, RAB23, MYH7, NOS2, SEC23B, ACTG1, ALDH18A1, FLNC, PRKCSH, ABCG5, WRN, CENPE, LPL, SOS2, GATA6, KMT2D, DDX58, ATP7A, NTRK1, DMPK, STAT1, STAMBP, MT-CO2, AHCY, GATA5, RECQL4, KCNJ8, MED25, AKT3, ENPP1, C10orf2, TPK1, FMR1, SCN5A, FGFR2, KAT6A, ACTN4, REN, COL4A3, SGCG, RPL11, GATA4, OFD1, RTEL1, STRADA, SNRPB, ITPA, APP, RET, RIT1, LRP6, HRAS, SLC25A4, POLG, ACTN2, MYH9, SARS2, PRKACA, TF, CSRP3, MYH11, TERT, NR3C1, CHKB, TNNI3, DDX11, PIGR, TRIM37, FLNB, SKIV2L, ATIC, SRCAP