CARDIOVASCULAR

BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HETEROTAXY, VISCERAL, 5, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, CARDIOMYOPATHY, DILATED, 1CC, SUPRAVALVAR AORTIC STENOSIS, CHOANAL ATRESIA AND LYMPHEDEMA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, AURICULOCONDYLAR SYNDROME 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, RENAL TUBULAR DYSGENESIS, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, MYXOMA, INTRACARDIAC, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, CARDIOMYOPATHY, HYPERTROPHIC, 20, LUJAN-FRYNS SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, NAXOS DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ADAMS-OLIVER SYNDROME 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HETEROTOPIA, PERIVENTRICULAR, TIMOTHY SYNDROME, THROMBOCYTHEMIA 3, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, 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, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, HEMOCHROMATOSIS TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, PULMONARY HYPERTENSION, PRIMARY, 3, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, ROBINOW SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, LIPOPROTEIN LIPASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, DIAMOND-BLACKFAN ANEMIA 1, ERYTHROCYTOSIS, FAMILIAL, 2, NEUROFIBROMATOSIS, TYPE 1, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MECKEL SYNDROME 4, PALLISTER-HALL SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, PDE4D, CAV1, APOB, PKD1, ACTB, PSEN1, AGT, PPARG, ASCC1, PRKAR1A, EDN1, WNT5A, RYR2, PTPN14, PIK3CA, EMD, CREBBP, GNAI2, RBPJ, NF1, ACTA1, SOX9, TGFB2, SMARCA4, ERBB3, NOS3, THRA, MTOR, EDNRA, IFNG, MRPL44, JAK2, JUP, GLIS3, TGFBR1, NEXN, MAX, LRP6, GJA1, SUFU, SMAD4, DVL3, CEP290, STAT1, TGFB3, APOA2, VHL, BMP2, BRCA1, FN1, SOX2, TMEM173, CFTR, NODAL, MED12, LRP2, GLI3, AKT1, SNCA, RPS19, PTEN, F13A1, AKAP10, CHRM3, LRP5, RAB23, NOS2, TGFB1, FLNA, PTPN11, LPL, DDX58, PRKACA, CACNA1C, NOTCH1, RBCK1, ACTN4, CPOX, APP, HRAS, EGFR, ACTN2, SMAD3, NR3C1, ESR1

{HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, BARAITSER-WINTER SYNDROME 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, AORTIC ANEURYSM, FAMILIAL THORACIC 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, 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, LYMPHEDEMA, HEREDITARY, IA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, WERNER SYNDROME, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, STICKLER SYNDROME, TYPE I, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, DANON DISEASE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 1, LEOPARD SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, STORMORKEN SYNDROME, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NOONAN SYNDROME 9, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MYXOMA, INTRACARDIAC, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CARDIOMYOPATHY, HYPERTROPHIC, 3, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CARDIOMYOPATHY, DILATED, 1HH, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MOYAMOYA 6 WITH ACHALASIA, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 18, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AORTIC ANEURYSM, FAMILIAL THORACIC 8, FANCONI ANEMIA, COMPLEMENTATION GROUP O, EHLERS-DANLOS SYNDROME, TYPE 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, ATRIAL SEPTAL DEFECT 9, FRONTOMETAPHYSEAL DYSPLASIA, ATRANSFERRINEMIA, LOEYS-DIETZ SYNDROME 3, RENAL TUBULAR DYSGENESIS, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, BETHLEM MYOPATHY 1, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, 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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, PALLISTER-HALL SYNDROME, CORNELIA DE LANGE SYNDROME 3, HETEROTOPIA, PERIVENTRICULAR, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, DUCHENNE MUSCULAR DYSTROPHY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, LIANG DISTAL MYOPATHY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, PULMONARY HYPERTENSION, PRIMARY, 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, {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, BECKER MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PULMONARY VENOOCCLUSIVE DISEASE 1, VENTRICULAR SEPTAL DEFECT 1, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPERTHYROIDISM, NONAUTOIMMUNE, ATRIAL STANDSTILL 2, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRAGILE X SYNDROME, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 1, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, PHYTANIC ACID STORAGE DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, CARNEY COMPLEX, TYPE 1, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, COMPLEMENT FACTOR I DEFICIENCY, ?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}, NOONAN SYNDROME 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CUTIS LAXA, AD, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, AORTIC ANEURYSM, FAMILIAL THORACIC 7, PSEUDOHYPOALDOSTERONISM, TYPE IIE, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, SICKLE CELL ANEMIA, ESSENTIAL HYPERTENSION, APERT SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 6, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, CARDIOMYOPATHY, HYPERTROPHIC, 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, PDE4D, BRCA2, CAV1, HBB, FGFR1, APOB, COL1A1, PKD1, MT-CO2, ACTB, STIM1, CUL3, CENPF, PSEN1, KLF1, F2, AGT, PPARG, AGTR1, PRKAR1A, PHYH, EDN1, PROS1, MYH7, COL6A1, FMR1, WT1, CLASP1, BAG3, DES, PIK3CA, NOTCH1, EFEMP2, TGFBR2, CREBBP, GNAI2, RAF1, HTRA1, ACTA1, SERPIND1, RASA1, TPM1, TGFB2, LAMP2, FBLN5, ERBB3, PROC, ELN, NPPA, WRN, GNAS, ATP1B1, MTOR, EDNRA, THBD, NOS3, NR2F2, COL1A2, KRAS, ABCA1, IFNG, CALR, CBL, COL2A1, THPO, JAK2, KCNMB1, PDE3A, NRAS, AVPR2, TGFBR1, PRKG1, SPRY2, TSHR, RPS6KA3, TP63, ADD1, SMC3, BMPR2, GATA1, FCGR2A, CAV3, TTR, APP, GJA1, SOX9, SMAD4, PDE11A, FLT4, C3, MECP2, MYLK, CHRM3, TGFB3, FLNA, DMD, VHL, COL4A1, BMP2, BRCA1, FN1, SOX2, AIP, DTNBP1, CFI, APOA1, LDLR, EGFR, NOS2, GLI3, AKT1, SNCA, RAD51C, TTN, PTEN, F13A1, AKAP10, GSN, ACVRL1, PLN, GUCY1A3, F5, SERPINC1, SH2B3, ZFPM2, SMAD3, HNRNPK, PIK3R2, NTRK1, IGF2, CENPE, LPL, GATA6, CFTR, MYH9, TGFB1, STAT1, CD46, PRKACA, GATA5, PTPN11, PLG, SOS1, FGFR2, ACTN4, BRAF, GATA4, FLNC, RET, CTCF, HFE, HRAS, LRP2, ACTN2, SELE, TF, CTSA, MYH11, NR3C1, ESR1, TNNI3, DDX58, SOS2, HPS1, ATIC

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, POLYCYTHEMIA VERA, SOMATIC, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, THROMBOCYTHEMIA 3, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, ERYTHROCYTOSIS, FAMILIAL, 2, ESSENTIAL HYPERTENSION, OSTEOGENESIS IMPERFECTA, TYPE II, AORTIC VALVE DISEASE 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE 3, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ATRANSFERRINEMIA, LOEYS-DIETZ SYNDROME 3, RENAL TUBULAR DYSGENESIS, ADAMS-OLIVER SYNDROME 3, CUTIS LAXA, AD, STICKLER SYNDROME, TYPE I, EHLERS-DANLOS SYNDROME, TYPE IV, {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, SUPRAVALVAR AORTIC STENOSIS, BETHLEM MYOPATHY 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PULMONARY HYPERTENSION, PRIMARY, 3, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, FIBROCHONDROGENESIS 1, ALPORT SYNDROME, PROTEUS SYNDROME, SOMATIC

ACE, TF, CAV1, APP, PKD1, SOX9, ELN, COL4A1, COL6A2, TGFB1, COL5A2, F2, COL11A1, VHL, COL4A4, BMP2, COL3A1, COL6A1, FN1, JAK2, COL6A3, COL4A3, IFNG, COL4A5, COL1A1, ADAM17, COL1A2, COL5A1, AKT1, NOTCH1, TNXB, SMAD3, AGT, COL2A1, RBPJ

BASAL CELL NEVUS SYNDROME, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, DIGEORGE SYNDROME, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, JERVELL AND LANGE-NIELSEN SYNDROME 1, GLUTAMINE DEFICIENCY, CONGENITAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, VENTRICULAR SEPTAL DEFECT 1, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, DIAMOND-BLACKFAN ANEMIA 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PULMONARY VENOOCCLUSIVE DISEASE 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LEOPARD SYNDROME 3, ?DYSTONIA 23, SUPRAVALVAR AORTIC STENOSIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, VELOCARDIOFACIAL SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DUANE-RADIAL RAY SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MYXOMA, INTRACARDIAC, CARDIOMYOPATHY, HYPERTROPHIC, 22, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4, CARDIOMYOPATHY, DILATED, 1KK, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, ATRIAL SEPTAL DEFECT 5, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATRIAL FIBRILLATION, FAMILIAL, 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?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}, CARDIOMYOPATHY, DILATED, 1HH, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUSCULAR DYSTROPHY, CONGENITAL, HETEROTOPIA, PERIVENTRICULAR, ESSENTIAL HYPERTENSION, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, CARDIOMYOPATHY, HYPERTROPHIC, 12, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, NAXOS DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, ATRANSFERRINEMIA, LOEYS-DIETZ SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, DENYS-DRASH SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, MALOUF SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, HAY-WELLS SYNDROME, 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, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, CHAR SYNDROME, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SHORT QT SYNDROME 2, LYMPHEDEMA, HEREDITARY, IA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, 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, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, DUCHENNE MUSCULAR DYSTROPHY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, AURICULOCONDYLAR SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, CORNELIA DE LANGE SYNDROME 3, NOONAN SYNDROME 10, ALAGILLE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, RESTRICTIVE DERMOPATHY, LETHAL, 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, BERGER DISEASE, TANGIER DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, BECKER MUSCULAR DYSTROPHY, ?CHARGE SYNDROME, CHARGE SYNDROME, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CORNELIA DE LANGE SYNDROME 1, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, PSEUDOHYPOALDOSTERONISM, TYPE IIB, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPERTHYROIDISM, NONAUTOIMMUNE, ATRIAL STANDSTILL 2, OPITZ GBBB SYNDROME, TYPE I, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ATRIAL FIBRILLATION, FAMILIAL, 6, APPARENT MINERALOCORTICOID EXCESS, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, CARDIOMYOPATHY, DILATED, 1A, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, LIPOPROTEIN LIPASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CPT DEFICIENCY, HEPATIC, TYPE IA, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, CEROID LIPOFUSCINOSIS, NEURONAL, 3, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, NEUROFIBROMATOSIS, TYPE 1, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, ULNAR-MAMMARY SYNDROME, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, CUTIS LAXA, AD, DYSAUTONOMIA, FAMILIAL, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, HEART-HAND SYNDROME, SLOVENIAN TYPE, MYHRE SYNDROME, HERMANSKY-PUDLAK SYNDROME 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, COMBINED HYPERLIPIDEMIA, FAMILIAL, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, DIAMOND-BLACKFAN ANEMIA 1, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, PDE4D, CAV1, CLN3, TSC2, COL1A1, SALL1, PRKACA, GNAS, CACNA1B, PSEN1, SMARCA4, CACNA1C, RPL5, CYP11B2, F2, TBX3, AGT, PPARG, AGTR1, PRKAR1A, EDN1, KCNH2, APOB, RYR2, HADH, WT1, BAG3, NEU1, PIK3CA, SOS1, WNK1, JAG1, TGFBR2, KCNMB1, ACTC1, CREBBP, CPT1A, GNAI2, RBPJ, SF3B4, PTEN, HTRA1, ACTA1, ACE, RASA1, APOA2, KRAS, APOA1, ELN, LZTR1, NOS3, THRA, CACNA1D, FGFR1, CHRM3, MID1, TAF6, CPOX, ABCA1, IFNG, CALR, CBL, IKBKAP, LMNA, JAK2, EFTUD2, JUP, NKX2-1, GLIS3, TGFBR1, NDUFS2, PRKG1, ROR2, TMEM173, SPRY2, TSHR, RBP4, FGF23, AVPR2, RPS6KA3, TP63, TBX1, SMC3, PAX8, KCNA5, PTCH1, CAV3, TTR, APP, REN, SOX9, TGFB2, SMAD4, DVL3, FLT4, GDNF, NDUFAF2, CSRP3, TGFB3, CHD7, FOXF1, DMD, CASQ2, BMP2, HSD11B2, FN1, SOX2, WNT5A, DTNBP1, ERBB3, SEC63, EGFR, SLC25A4, WNK4, TWIST1, AKT1, SNCA, PIGR, RPS19, NF1, F13A1, NKX2-5, ACVRL1, NPPA, FLNA, KCNQ1, SMAD3, NOS2, PIK3R2, TGFB1, PTPN11, LPL, AHCY, GATA4, CFTR, MYH9, STAT1, ANK2, MT-CO2, GATA5, KCNJ8, NOTCH1, PLG, FADD, ACTN4, BRAF, LRP5, SALL4, MYPN, GLUL, PCSK9, FLNC, RET, MEF2A, CTLA4, HRAS, TFAP2B, GJA1, ACTN2, SELE, TF, MYH11, NR3C1, ESR1, BMPR2, FLNB, MTOR, ATIC

BASAL CELL NEVUS SYNDROME, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, JERVELL AND LANGE-NIELSEN SYNDROME 1, GLUTAMINE DEFICIENCY, CONGENITAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, DYSAUTONOMIA, FAMILIAL, HERMANSKY-PUDLAK SYNDROME 1, ?DYSTONIA 23, SUPRAVALVAR AORTIC STENOSIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DUANE-RADIAL RAY SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MYXOMA, INTRACARDIAC, CARDIOMYOPATHY, HYPERTROPHIC, 22, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4, CARDIOMYOPATHY, DILATED, 1KK, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, ATRIAL SEPTAL DEFECT 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATRIAL FIBRILLATION, FAMILIAL, 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HYPERTHYROIDISM, NONAUTOIMMUNE, ATRIAL FIBRILLATION, FAMILIAL, 7, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUSCULAR DYSTROPHY, CONGENITAL, ESSENTIAL HYPERTENSION, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, NAXOS DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MALOUF SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SHORT QT SYNDROME 2, HETEROTOPIA, PERIVENTRICULAR, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, DUCHENNE MUSCULAR DYSTROPHY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, RESTRICTIVE DERMOPATHY, LETHAL, 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, BERGER DISEASE, TANGIER DISEASE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, BECKER MUSCULAR DYSTROPHY, VENTRICULAR SEPTAL DEFECT 1, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, OPITZ GBBB SYNDROME, TYPE I, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, ATRIAL FIBRILLATION, FAMILIAL, 6, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, CARDIOMYOPATHY, DILATED, 1A, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 11, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, NEUROFIBROMATOSIS, TYPE 1, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, ULNAR-MAMMARY SYNDROME, ESTROGEN RESISTANCE, CUTIS LAXA, AD, HEART-HAND SYNDROME, SLOVENIAN TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

CALM1, PDE4D, CAV1, WNT5A, LMNA, COL1A1, SALL1, GNAS, CACNA1B, PSEN1, CYP11B2, F2, TBX3, AGT, PPARG, AGTR1, PRKAR1A, EDN1, SALL4, NEU1, PIK3CA, FADD, ACTC1, CREBBP, IKBKAP, PTEN, ACTA1, RASA1, TGFB2, KRAS, ERBB3, ELN, NPPA, NOS3, GLUL, ACVRL1, MID1, JAK2, CBL, IFNG, JUP, AVPR2, TGFBR1, PRKG1, TMEM173, TSHR, RBP4, PIGR, KCNA5, PTCH1, TTR, CALR, GJA1, DVL3, GDNF, STAT1, TGFB3, DMD, CASQ2, AKT1, SMARCA4, CFTR, APOA1, TWIST1, FN1, SNCA, NF1, F13A1, CHRM3, FLNA, KCNQ1, NOS2, PIK3R2, TGFB1, PTPN11, GATA4, DTNBP1, MYH9, AHCY, PRKACA, GATA5, PLG, SOS1, ACTN4, MYPN, APP, HRAS, EGFR, ACTN2, SMAD3, NR3C1, ESR1

ATRIAL FIBRILLATION, FAMILIAL, 7, PARKINSON DISEASE 4, COMBINED HYPERLIPIDEMIA, FAMILIAL, SHORT QT SYNDROME 2, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, ROBINOW SYNDROME, POLYCYTHEMIA VERA, SOMATIC, PULMONARY HYPERTENSION, PRIMARY, 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AORTIC ANEURYSM, FAMILIAL THORACIC 4, LOEYS-DIETZ SYNDROME 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AURICULOCONDYLAR SYNDROME 3, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, ESSENTIAL HYPERTENSION, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ATRIAL FIBRILLATION, FAMILIAL, 3, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PSEUDOHYPOALDOSTERONISM, TYPE IIC, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE 3, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME 5, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, GLUCOCORTICOID RESISTANCE, WATSON SYNDROME, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, {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}, NEUROFIBROMATOSIS-NOONAN SYNDROME, NOONAN SYNDROME 7, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, PRIMARY PULMONARY HYPERTENSION, JERVELL AND LANGE-NIELSEN SYNDROME 1, LONG QT SYNDROME 14, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CORNELIA DE LANGE SYNDROME 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LEOPARD SYNDROME 3, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, TANGIER DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, THROMBOCYTHEMIA 3, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SUPRAVALVAR AORTIC STENOSIS, VENTRICULAR TACHYCARDIA, IDIOPATHIC, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, MALFORMATION OF THE HEART, TIMOTHY SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIB, LOEYS-DIETZ SYNDROME 3, HYPERTHYROIDISM, NONAUTOIMMUNE, MYOPATHY, DISTAL, TATEYAMA TYPE, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NEUROFIBROMATOSIS, TYPE 1, RENAL TUBULAR DYSGENESIS, DYSAUTONOMIA, FAMILIAL, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, LEOPARD SYNDROME 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

KCNA5, CALM1, CAV3, APP, APOA2, KCNQ1, SMAD3, APOB, APOA1, NOS2, SMAD4, NOTCH1, DVL3, GNAS, TGFB1, PTPN11, NDUFAF2, EFTUD2, CAV1, MYH9, AGT, MTOR, FGF23, CACNA1C, BMP2, KCNJ8, NOS3, AKT1, FN1, ABCA1, REN, LPL, ACTN4, IKBKAP, HADH, ERBB3, JAK2, WNK1, PCSK9, AVPR2, TGFBR1, WNK4, FOXF1, EDN1, HRAS, EGFR, SNCA, SELE, TSHR, NF1, MYH11, NR3C1, BRAF, ESR1, GNAI2, SMC3, SF3B4, PTEN, ATIC, HTRA1

EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, LONG QT SYNDROME 15, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STICKLER SYNDROME, TYPE I, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, SUPRAVALVAR AORTIC STENOSIS, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, RENAL TUBULAR DYSGENESIS, ADAMS-OLIVER SYNDROME 5, ATRIAL FIBRILLATION, FAMILIAL, 3, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ATRIAL SEPTAL DEFECT 8, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, ATRIAL SEPTAL DEFECT 9, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 4, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, LONG QT SYNDROME 1, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, OSTEOGENESIS IMPERFECTA, TYPE I, JERVELL AND LANGE-NIELSEN SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, PSEUDOHYPOALDOSTERONISM, TYPE 2, SHORT QT SYNDROME 2, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, 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, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, HYPERTHYROIDISM, NONAUTOIMMUNE, ATRIAL STANDSTILL 2, ROBINOW SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COPROPORPHYRIA, HARDEROPORPHYRIA, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MCKUSICK-KAUFMAN SYNDROME, VENTRICULAR SEPTAL DEFECT 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, ATRIOVENTRICULAR SEPTAL DEFECT 5, PSEUDOHYPOALDOSTERONISM, TYPE IIE, PALLISTER-HALL SYNDROME, HAMAMY SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 6, SERKAL SYNDROME, HETEROTOPIA, PERIVENTRICULAR, PROTEUS SYNDROME, SOMATIC

CALM1, GATA1, SOX9, TTR, LRP5, KCNQ1, REN, COL1A1, SALL1, NR3C1, DVL3, BRCA2, CUL3, TGFB1, MKKS, NOS3, CPOX, FLNA, AGT, STAT1, PPARG, NR2F2, BMP2, PIK3CA, NOTCH1, CITED2, AKT1, RBP4, IRX5, WNT5A, CREBBP, BRCA1, COL4A3, TAF2, WT1, GATA6, GATA4, SMARCA4, GLI3, EDN1, HRAS, COL1A2, FANCA, TSHR, WNT4, SMAD3, NPPA, FZD6, ESR1, COL2A1, LRP6, PTEN

{HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, BARAITSER-WINTER SYNDROME 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO HEPARIN COFACTOR II DEFICIENCY, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, AORTIC ANEURYSM, FAMILIAL THORACIC 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, 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, LYMPHEDEMA, HEREDITARY, IA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, WERNER SYNDROME, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, STICKLER SYNDROME, TYPE I, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, DANON DISEASE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 1, LEOPARD SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, STORMORKEN SYNDROME, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NOONAN SYNDROME 9, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MYXOMA, INTRACARDIAC, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, CARDIOMYOPATHY, HYPERTROPHIC, 3, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, CARDIOMYOPATHY, DILATED, 1HH, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MOYAMOYA 6 WITH ACHALASIA, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CARDIOMYOPATHY, HYPERTROPHIC, 18, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, AORTIC ANEURYSM, FAMILIAL THORACIC 8, FANCONI ANEMIA, COMPLEMENTATION GROUP O, EHLERS-DANLOS SYNDROME, TYPE 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, ATRIAL SEPTAL DEFECT 9, FRONTOMETAPHYSEAL DYSPLASIA, ATRANSFERRINEMIA, LOEYS-DIETZ SYNDROME 3, RENAL TUBULAR DYSGENESIS, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, BETHLEM MYOPATHY 1, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, GALACTOSIALIDOSIS, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, 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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, PALLISTER-HALL SYNDROME, CORNELIA DE LANGE SYNDROME 3, HETEROTOPIA, PERIVENTRICULAR, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, DUCHENNE MUSCULAR DYSTROPHY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, LIANG DISTAL MYOPATHY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, PULMONARY HYPERTENSION, PRIMARY, 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, {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, BECKER MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PULMONARY VENOOCCLUSIVE DISEASE 1, VENTRICULAR SEPTAL DEFECT 1, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPERTHYROIDISM, NONAUTOIMMUNE, ATRIAL STANDSTILL 2, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, FRAGILE X SYNDROME, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, CLOVE SYNDROME, SOMATIC, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, PHYTANIC ACID STORAGE DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, CARNEY COMPLEX, TYPE 1, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, COMPLEMENT FACTOR I DEFICIENCY, ?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}, NOONAN SYNDROME 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CUTIS LAXA, AD, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, AORTIC ANEURYSM, FAMILIAL THORACIC 7, PSEUDOHYPOALDOSTERONISM, TYPE IIE, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, SICKLE CELL ANEMIA, ESSENTIAL HYPERTENSION, APERT SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 6, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, CARDIOMYOPATHY, HYPERTROPHIC, 7, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, PDE4D, BRCA2, CAV1, HBB, FGFR1, APOB, COL1A1, PKD1, MT-CO2, ACTB, STIM1, CUL3, CENPF, PSEN1, KLF1, F2, AGT, PPARG, AGTR1, PRKAR1A, PHYH, EDN1, PROS1, MYH7, COL6A1, FMR1, WT1, CLASP1, BAG3, DES, PIK3CA, NOTCH1, EFEMP2, TGFBR2, CREBBP, GNAI2, RAF1, HTRA1, ACTA1, SERPIND1, RASA1, TPM1, TGFB2, LAMP2, FBLN5, ERBB3, PROC, ELN, NPPA, IGF2, GNAS, ATP1B1, MTOR, EDNRA, THBD, NOS3, NR2F2, COL1A2, PLN, KRAS, ABCA1, IFNG, CALR, CBL, COL2A1, THPO, JAK2, KCNMB1, PDE3A, NRAS, TGFBR1, PRKG1, SPRY2, TSHR, RPS6KA3, TP63, ADD1, SMC3, BMPR2, GATA1, FCGR2A, CAV3, TTR, APP, GJA1, SOX9, SMAD4, PDE11A, FLT4, C3, MECP2, MYLK, CHRM3, TGFB3, FLNA, DMD, VHL, COL4A1, BMP2, FN1, SOX2, AIP, DDX58, CFI, APOA1, LDLR, EGFR, NOS2, GLI3, AKT1, SNCA, RAD51C, TTN, PTEN, F13A1, AKAP10, GSN, ACVRL1, CFTR, GUCY1A3, F5, SERPINC1, SH2B3, ZFPM2, SMAD3, HNRNPK, PIK3R2, NTRK1, WRN, CENPE, LPL, GATA6, DTNBP1, MYH9, TGFB1, STAT1, CD46, PRKACA, GATA5, PTPN11, PLG, SOS1, FGFR2, ACTN4, BRAF, GATA4, FLNC, RET, CTCF, HFE, HRAS, LRP2, ACTN2, SELE, TF, CTSA, MYH11, NR3C1, ESR1, TNNI3, SOS2, HPS1, ATIC

LOEYS-DIETZ SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE I, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, BARAITSER-WINTER SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, ALPORT SYNDROME, AUTOSOMAL DOMINANT, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, ERYTHROCYTOSIS, FAMILIAL, 2, FEINGOLD SYNDROME, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, ATRANSFERRINEMIA, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, STICKLER SYNDROME, TYPE I, LONG QT SYNDROME 14, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, PARKINSON DISEASE 4, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BERGER DISEASE, PSEUDOHYPOALDOSTERONISM, TYPE IIE, TANGIER DISEASE, PSEUDOHYPOALDOSTERONISM, TYPE 2, MEDULLARY CYSTIC KIDNEY DISEASE 1, AURICULOCONDYLAR SYNDROME 3, SADDAN, ESSENTIAL HYPERTENSION, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, LOEYS-DIETZ SYNDROME 2, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, TUBEROUS SCLEROSIS 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, OSTEOGENESIS IMPERFECTA, TYPE II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, RENAL TUBULAR DYSGENESIS, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, ROBINOW SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 2, COFFIN-SIRIS SYNDROME 4, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, SOX9, TTR, TF, APOB, APOA1, COL1A1, ACTG1, ACTB, RBP4, CUL3, AKT1, NTRK1, IGF2, NOS3, THRA, MUC1, PTRF, COL4A3, AGT, TGFB1, MTOR, VHL, BMP2, HLA-B, BRCA1, EDN1, EIF2AK4, SMARCA4, WNT5A, COL2A1, KCNJ1, IFNG, MYCN, GATA1, LRP2, GNAS, APP, C3, FN1, SNCA, EGFR, ACTN2, TGFBR2, FGFR3, ESR1, CFTR, ADD1, HFE, PTEN, PIGR

LOEYS-DIETZ SYNDROME 1, BASAL CELL NEVUS SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, AYME-GRIPP SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OCULOECTODERMAL SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, LOEYS-DIETZ SYNDROME 3, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PRIMARY PULMONARY HYPERTENSION, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MICROPHTHALMIA, SYNDROMIC 12, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PALLISTER-HALL SYNDROME, SUPRAVALVAR AORTIC STENOSIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, MALFORMATION OF THE HEART, DENTAL ANOMALIES AND SHORT STATURE, PULMONARY HYPERTENSION, PRIMARY, 3, HOLT-ORAM SYNDROME, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

ACTA1, PTCH1, SOX9, CAV1, PPARG, KRAS, LTBP3, TGFB1, FGFR1, TBX5, AKT1, SOX2, TGFBR1, GLI3, HRAS, EGFR, SMAD3, SMAD4, CREBBP, MAF, ACVRL1, RARB, BMPR2

BARAITSER-WINTER SYNDROME 1, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, GLUTAMINE DEFICIENCY, CONGENITAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, NEUROFIBROMATOSIS-NOONAN SYNDROME, WERNER SYNDROME, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, LEOPARD SYNDROME 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2, SUPRAVALVAR AORTIC STENOSIS, NOONAN SYNDROME 4, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, AURICULOCONDYLAR SYNDROME 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MYXOMA, INTRACARDIAC, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, WARSAW BREAKAGE SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ATRIAL SEPTAL DEFECT 5, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 8, MULIBREY NANISM, DIAMOND-BLACKFAN ANEMIA 6, LOEYS-DIETZ SYNDROME 3, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, ATRIOVENTRICULAR SEPTAL DEFECT 4, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ADAMS-OLIVER SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP O, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, LEBER OPTIC ATROPHY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, MYOFIBRILLAR, 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, COCKAYNE SYNDROME, TYPE B, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, CARPENTER SYNDROME, NEUROFIBROMATOSIS, TYPE 1, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, FANCONI ANEMIA, COMPLEMENTATION GROUP C, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NOONAN SYNDROME 8, SPINAL MUSCULAR ATROPHY-1, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, PALLISTER-HALL SYNDROME, CORNELIA DE LANGE SYNDROME 3, HETEROTOPIA, PERIVENTRICULAR, BURN-MCKEOWN SYNDROME, THROMBOCYTHEMIA 3, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP D1, OCULOECTODERMAL SYNDROME, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEFT VENTRICULAR NONCOMPACTION 7, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, COFFIN-SIRIS SYNDROME 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SITOSTEROLEMIA, BALLER-GEROLD SYNDROME, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, LIANG DISTAL MYOPATHY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, TANGIER DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, VENTRICULAR SEPTAL DEFECT 1, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, 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, ATRIAL FIBRILLATION, FAMILIAL, 12, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?PRUNE BELLY SYNDROME, MALONYL-COA DECARBOXYLASE DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, CARDIOMYOPATHY, HYPERTROPHIC, 11, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, DILATED CARDIOMYOPATHY 1DD, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, KARTAGENER SYNDROME, NOONAN SYNDROME 7, LONG QT SYNDROME 14, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, AORTIC ANEURYSM, FAMILIAL THORACIC 7, PSEUDOHYPOALDOSTERONISM, TYPE IIE, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PSEUDOHYPOALDOSTERONISM, TYPE 2, MYHRE SYNDROME, ESSENTIAL HYPERTENSION, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BERGER DISEASE, COFFIN-LOWRY SYNDROME, CODAS SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CALCIFICATION OF JOINTS AND ARTERIES, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, RPL5, BRCA2, CAV1, PDE4D, CNBP, ACTB, CUL3, EFTUD2, AGT, PPARG, PDE11A, PRKAR1A, DNAH5, RECQL4, RYR2, MYH7, KIF7, KIF1B, ERCC6, TGFBR1, DNAH8, MLYCD, DES, PIK3CA, WNK1, ACTC1, LIPT1, GNAI2, DYNC2H1, PEX5, ACTA1, RASA1, ATRX, KRAS, APOA1, ABCC6, NME1, DDX11, WRN, NT5E, NOS3, GLUL, RYR1, TAF6, ABCA1, IFNG, GTPBP3, PIGT, LONP1, GNB3, JAK2, TPM2, MYLK, PDE3A, FANCC, MIB1, PRKG1, RBPJ, SPRY2, FANCA, TNNT2, RPS6KA3, ENPP1, BRAF, SMC3, SOS2, VPS33B, CAV3, BANF1, FLNC, REN, NRAS, MT-ATP6, SMAD4, CBS, ABCG8, ITPA, STAT1, GMPPB, FLNA, VHL, SMARCAL1, BMP2, MTOR, AKT1, SMARCA4, TXNL4A, CFTR, SEC63, ATP5A1, PEX19, RAF1, ABCD4, EDN1, DNAH1, RAD51C, NF1, CHRM3, MYH6, PEX1, CCNO, SMARCB1, RAB23, IGHMBP2, ACTG1, PIK3R2, ABCG5, CENPE, GATA4, DDX58, MYH9, TGFB1, GATA5, PTPN11, SOS1, ACTN4, ABCC9, GPX4, RTEL1, GNAS, CLASP1, APP, RIT1, PNP, PTEN, HRAS, EGFR, ACTN2, CALR, SMAD3, NR3C1, ESR1, PIGR, TRIM37, SKIV2L

BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HETEROTAXY, VISCERAL, 5, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, ADAMS-OLIVER SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, RENAL TUBULAR DYSGENESIS, CARASIL SYNDROME, STICKLER SYNDROME, TYPE I, ATRIAL SEPTAL DEFECT 6, SUPRAVALVAR AORTIC STENOSIS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DUANE-RADIAL RAY SYNDROME, AORTIC VALVE DISEASE 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, MEND SYNDROME, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, BECKWITH-WIEDEMANN SYNDROME, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), FEINGOLD SYNDROME, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, FRANK-TER HAAR SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, HYPOPLASTIC LEFT HEART SYNDROME 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COFFIN-SIRIS SYNDROME 3, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, HOLT-ORAM SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, OSTEOGENESIS IMPERFECTA, TYPE I, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OCULOECTODERMAL SYNDROME, VENTRICULAR SEPTAL DEFECT 3, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ALAGILLE SYNDROME, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, ?CHARGE SYNDROME, CHARGE SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, HEMOCHROMATOSIS TYPE 1, ELLIS-VAN CREVELD SYNDROME, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, ATRIAL STANDSTILL 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SMITH-MAGENIS SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, GELEOPHYSIC DYSPLASIA 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HAY-WELLS SYNDROME, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ULNAR-MAMMARY SYNDROME, PALLISTER-HALL SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ATRIAL FIBRILLATION, FAMILIAL, 6, SERKAL SYNDROME, HETEROTOPIA, PERIVENTRICULAR, CARDIOMYOPATHY, DILATED, 1U, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

F2, WNT5A, COL1A1, SALL1, ACTB, TAPT1, GNAS, RAI1, EBP, TBX3, AGT, PPARG, COL5A1, EDN1, BMP1, RYR2, MYH7, SALL4, TERT, PIK3CA, JAG1, DLL4, CREBBP, SOX2, RBPJ, SF3B4, WNT4, EVC, SOX9, CHD7, KRAS, NKX2-5, IGF2, NOS3, MYCN, MTOR, FGFR1, COL3A1, CPOX, COL2A1, PSEN1, JUP, TGFBR1, SPRY2, RBP4, FGF23, RPS6KA3, TP63, LRP6, PAX8, PTCH1, TTR, GPC3, GJA1, SUFU, SMAD4, FLT4, FOXC1, VHL, BMP2, COL4A1, HES7, TBX5, AKT1, FN1, SMARCA4, FOXC2, FBN1, SH3PXD2B, GLI3, FBN2, CDKN1C, PTEN, FGFR3, NPPA, FLNA, HTRA1, SMARCB1, NODAL, TGFB1, COL5A2, GATA6, HEXB, GATA5, NOTCH1, PLG, COL4A3, GATA4, TLL1, CACNA1S, SMAD6, HRAS, COL1A2, EGFR, SMAD3, BMPR2, ARSB

LOEYS-DIETZ SYNDROME 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FEINGOLD SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, KEUTEL SYNDROME, STICKLER SYNDROME, TYPE I, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, RUBINSTEIN-TAYBI SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, FIBROCHONDROGENESIS 1, OSTEOGENESIS IMPERFECTA, TYPE XIII, ROBINOW SYNDROME

MEF2A, MYCN, TGFBR1, TGFB2, MGP, PKD1, SOX9, THRA, CREBBP, COL2A1, COL11A1, BMP2, ACE, FN1, WNT5A, TGFB1, BMP1, ROR2

LOEYS-DIETZ SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, NON-IMMUNE HYDROPS FETALIS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HOLT-ORAM SYNDROME, PHYTANIC ACID STORAGE DISEASE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, OSTEOGENESIS IMPERFECTA, TYPE II, MITRAL VALVE PROLAPSE 2, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, AURICULOCONDYLAR SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, RUBINSTEIN-TAYBI SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PULMONARY VENOOCCLUSIVE DISEASE 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, LOEYS-DIETZ SYNDROME 3, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PRIMARY PULMONARY HYPERTENSION, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, CARASIL SYNDROME, STICKLER SYNDROME, TYPE I, LONG QT SYNDROME 14, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, THROMBOCYTHEMIA 3, SUPRAVALVAR AORTIC STENOSIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ALAGILLE SYNDROME, ATRIAL STANDSTILL 2, KEUTEL SYNDROME, BETHLEM MYOPATHY 1, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ATRIAL FIBRILLATION, FAMILIAL, 6, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, CARDIOMYOPATHY, DILATED, 1U, RENAL TUBULAR DYSGENESIS, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SADDAN, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, CAV3, BMP1, APP, F2, HTRA1, APOB, APOA1, DCHS1, NOS2, NPPA, PIK3R2, TGFB1, FAT4, PSEN1, MEF2A, THRA, CHRM3, TGFB3, ACVRL1, MYH9, COL6A1, AGT, RYR1, SOX9, PPARG, EXT2, FGF23, BMP2, NOS3, TBX5, AKT1, FN1, FZD6, ESR1, WNT5A, FOXC2, PHYH, JAK2, FOXC1, GNAS, COL1A1, TGFBR1, FGFR3, TWIST1, EDN1, HRAS, EGFR, JAG1, IFNG, SMAD3, CREBBP, MGP, PEX7, COL2A1, LRP6, GDF2, BMPR2

ATRIOVENTRICULAR SEPTAL DEFECT 3, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, CORNELIA DE LANGE SYNDROME 3, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OCULODENTODIGITAL DYSPLASIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, THROMBOCYTHEMIA 3, HYPOPLASTIC LEFT HEART SYNDROME 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HAJDU-CHENEY SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COFFIN-SIRIS SYNDROME 4, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, DIAMOND-BLACKFAN ANEMIA 6, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, COMPLEMENT FACTOR I DEFICIENCY, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, ATRANSFERRINEMIA, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ADAMS-OLIVER SYNDROME 3, LONG QT SYNDROME 14, COFFIN-SIRIS SYNDROME 3, 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, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, DUANE-RADIAL RAY SYNDROME, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, RUBINSTEIN-TAYBI SYNDROME, ALAGILLE SYNDROME 2, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, CALR, PPARG, SMARCA4, HNRNPK, CREBBP, SMC3, GNAS, AKT1, TGFB1, PTPN11, RPL5, TRPM4, GJA1, EDNRA, HLA-B, MECP2, EDN1, SMARCB1, CFI, JAK2, SALL4, STAT1, AVPR2, NOS2, APP, C3, FOXF1, RBPJ, TF, EGFR, SPRY2, SELE, IFNG, PTEN, NOTCH2, ESR1, HFE, FADD

BASAL CELL NEVUS SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, GLUTAMINE DEFICIENCY, CONGENITAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HEPATIC LIPASE DEFICIENCY, LONG QT SYNDROME 15, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, MUCOPOLYSACCHARIDOSIS IS, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSAUTONOMIA, FAMILIAL, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, RENAL TUBULAR DYSGENESIS, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, VLCAD DEFICIENCY, LIPOYLTRANSFERASE 1 DEFICIENCY, ESSENTIAL HYPERTENSION, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, NAXOS DISEASE, ALKAPTONURIA, LEBER OPTIC ATROPHY, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, TUBEROUS SCLEROSIS 2, MALOUF SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, FANCONI ANEMIA, COMPLEMENTATION GROUP C, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, KLEEFSTRA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MUSCULAR DYSTROPHY, CONGENITAL, TRIFUNCTIONAL PROTEIN DEFICIENCY, COFFIN-SIRIS SYNDROME 4, ETHYLMALONIC ENCEPHALOPATHY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, GLUCOCORTICOID RESISTANCE, NOONAN SYNDROME 10, ALAGILLE SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, RESTRICTIVE DERMOPATHY, LETHAL, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS IH/S, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, PULMONARY HYPERTENSION, PRIMARY, 3, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, TYROSINEMIA, TYPE I, ?ATRIAL FIBRILLATION 15, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, CPT DEFICIENCY, HEPATIC, TYPE IA, PHYTANIC ACID STORAGE DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CPT DEFICIENCY, HEPATIC, TYPE II, ERYTHROCYTOSIS, FAMILIAL, 2, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, HYPEROXALURIA, PRIMARY, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ?HYDROXYKYNURENINURIA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CPT II DEFICIENCY, LETHAL NEONATAL, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, CAV3, TTR, CAV1, PPARG, SMARCA4, LMNA, HCCS, PEX5, HSD17B10, ACADS, NR3C1, KYNU, AKT1, CBS, NOS3, AHCY, GLUL, NUP155, LMNB1, NR1I3, CPT1A, AGT, PCCB, ETHE1, VHL, HGD, MT-CO2, GATA5, SUFU, HIBCH, PTPN11, PHYH, MTOR, AGXT, HADHA, APOB, RYR2, ESR1, BRCA1, ADD1, HADH, FGF23, MUT, FGFR1, IFNG, REN, STAT1, FANCC, PEX7, LIPC, LZTR1, NOS2, DES, PEX19, PTEN, SMARCB1, PCCA, MT-CYB, JAG1, FANCA, DLD, PEX2, SMAD4, ECHS1, CPT2, ACADVL, GSN, UMPS, LIPT1, IDUA, IKBKAP, PAM16, JUP, HADHB, FAH

BARAITSER-WINTER SYNDROME 1, WOLFF-PARKINSON-WHITE SYNDROME, BECKWITH-WIEDEMANN SYNDROME, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, COCKAYNE SYNDROME, TYPE B, DIAMOND-BLACKFAN ANEMIA 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, CARDIOMYOPATHY, HYPERTROPHIC, 2, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION 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, CORNELIA DE LANGE SYNDROME 3, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, WARSAW BREAKAGE SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, ATRIAL SEPTAL DEFECT 5, OROTIC ACIDURIA, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, CARDIOMYOPATHY, HYPERTROPHIC 6, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, AORTIC ANEURYSM, FAMILIAL THORACIC 8, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, LOEYS-DIETZ SYNDROME 3, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ATRIOVENTRICULAR SEPTAL DEFECT 4, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OCCIPITAL HORN SYNDROME, ADAMS-OLIVER SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP O, LONG QT SYNDROME 14, LEBER OPTIC ATROPHY, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, LONG QT SYNDROME 15, NEUROFIBROMATOSIS, TYPE 1, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, COFFIN-LOWRY SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP C, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, SPINAL MUSCULAR ATROPHY-1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, NESTOR-GUILLERMO PROGERIA SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, LEFT VENTRICULAR NONCOMPACTION 7, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, COFFIN-SIRIS SYNDROME 4, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, SITOSTEROLEMIA, BALLER-GEROLD SYNDROME, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, LIANG DISTAL MYOPATHY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ATRIAL SEPTAL DEFECT 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CORNELIA DE LANGE SYNDROME 1, ATRIAL FIBRILLATION, FAMILIAL, 12, FRAGILE X SYNDROME, PARKINSON DISEASE 4, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, CARDIOMYOPATHY, HYPERTROPHIC, 11, DILATED CARDIOMYOPATHY 1DD, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENKES DISEASE, PSEUDOHYPOALDOSTERONISM, TYPE IIC, MAY-HEGGLIN ANOMALY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, WATSON SYNDROME, KARTAGENER SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIE, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PSEUDOHYPOALDOSTERONISM, TYPE 2, ESSENTIAL HYPERTENSION, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CODAS SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CALCIFICATION OF JOINTS AND ARTERIES, PROTEUS SYNDROME, SOMATIC

CALM1, BRCA2, CNBP, ATRX, NT5E, RPL5, ATP6V1B2, ENPP1, DNAH5, RECQL4, MYH7, KIF7, KIF1B, RAD51C, ERCC6, DNAH8, DES, WNK1, NF1, ACTC1, UMPS, LIPT1, DYNC2H1, PTEN, ACTA1, ACTB, APOA2, SMARCA4, APOA1, ABCC6, DDX11, WRN, CUL3, NOS3, SKIV2L, PRKAG2, TAF6, ABCA1, LONP1, AVPR2, MIB1, ABCG8, RBPJ, MT-CYB, SPRY2, FANCA, TNNT2, RPS6KA3, SMC3, MT-CO1, BANF1, MT-ATP6, PRKG1, SNIP1, STAT1, GMPPB, F5, SMARCAL1, BMP2, BRCA1, AKT1, NDUFS1, CFTR, SEC63, ATP5A1, SLC25A4, ABCD4, SNCA, DNAH1, CDKN1C, HSPA9, PEX5, MYH6, ADK, PEX1, IGHMBP2, ACTG1, ABCG5, CENPE, GATA4, ATP7A, TGFB1, MT-CO2, FXN, AKT3, FMR1, ACTN4, ABCC9, FANCC, RTEL1, CLASP1, CALR, PEX19, ACTN2, MYH9, EPOR, SMAD3, NR3C1, ESR1, ATIC

BARAITSER-WINTER SYNDROME 1, BRUGADA SYNDROME 1, ATRIAL FIBRILLATION, FAMILIAL, 3, ?ATRIAL FIBRILLATION 15, ANDERSEN SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 3, LONG QT SYNDROME 12, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, PAROXYSMAL EXTREME PAIN DISORDER, ATRIAL FIBRILLATION, FAMILIAL, 7, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, ATRIAL FIBRILLATION, FAMILIAL, 13, JERVELL AND LANGE-NIELSEN SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 1, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, LONG QT SYNDROME 5, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, ATRIAL FIBRILLATION, FAMILIAL, 14, LONG QT SYNDROME 6, CARDIOMYOPATHY, DILATED, 1E, CEROID LIPOFUSCINOSIS, NEURONAL, 3, SHORT QT SYNDROME 2, ESSENTIAL HYPERTENSION, CARDIOMYOPATHY, HYPERTROPHIC, 18, LONG QT SYNDROME 15, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, DUCHENNE MUSCULAR DYSTROPHY, ATRIAL FIBRILLATION, FAMILIAL, 11, JERVELL AND LANGE-NIELSEN SYNDROME 2, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, {VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2}, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 9, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ATRIOVENTRICULAR SEPTAL DEFECT 4, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, PRIMARY PULMONARY HYPERTENSION, ATRIAL SEPTAL DEFECT 2, SICK SINUS SYNDROME 1, LONG QT SYNDROME 14, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ATRIAL FIBRILLATION, FAMILIAL, 9, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, NAXOS DISEASE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, MYOPATHY, MYOFIBRILLAR, 1, BECKER MUSCULAR DYSTROPHY, LONG QT SYNDROME-3, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 10, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, VENTRICULAR SEPTAL DEFECT 1, TIMOTHY SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, NON-IMMUNE HYDROPS FETALIS, MYOPATHY, DISTAL, TATEYAMA TYPE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ATRIAL FIBRILLATION, FAMILIAL, 10, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, BRUGADA SYNDROME 7, ATRIAL FIBRILLATION, FAMILIAL, 16, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA

KCNA5, CALM1, CAV3, SCN1B, KCNQ1, CLN3, GJA5, NUP155, ACTB, GNAS, NOS3, SCN5A, DSC2, DMD, PRKACA, CACNA1C, CHRNA1, KCNE2, SCN9A, FN1, SCN4B, DSG2, RYR2, KCNE1, DSP, GATA4, JUP, SCN3B, APP, DES, PRKG1, KCNJ2, GJA1, KCNH2, DPP6, ANK2, PLN, GNAI2, SCN2B, SNTA1, PKP2

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, COPROPORPHYRIA, HARDEROPORPHYRIA, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, HETEROTAXY, VISCERAL, 5, DENTAL ANOMALIES AND SHORT STATURE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ADAMS-OLIVER SYNDROME 3, EHLERS-DANLOS SYNDROME, TYPE 3, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, VENTRICULAR SEPTAL DEFECT 3, ESSENTIAL HYPERTENSION, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, GELEOPHYSIC DYSPLASIA 2, COFFIN-SIRIS SYNDROME 4, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, POLYCYTHEMIA VERA, SOMATIC, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, ATRIOVENTRICULAR SEPTAL DEFECT 5, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ULNAR-MAMMARY SYNDROME, ALAGILLE SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ATRIOVENTRICULAR SEPTAL DEFECT 4, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, ESTROGEN RESISTANCE, ATRIAL SEPTAL DEFECT 2, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, HYPOPLASTIC LEFT HEART SYNDROME 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, VENTRICULOMEGALY WITH CYSTIC KIDNEY DISEASE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OSTEOGENESIS IMPERFECTA, TYPE II, THROMBOCYTHEMIA 3, PALLISTER-HALL SYNDROME, SUPRAVALVAR AORTIC STENOSIS, MARFAN LIPODYSTROPHY SYNDROME, LATERAL MENINGOCELE SYNDROME, VENTRICULAR SEPTAL DEFECT 1, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, MALFORMATION OF THE HEART, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, LOEYS-DIETZ SYNDROME 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HOLT-ORAM SYNDROME, SERKAL SYNDROME, RUBINSTEIN-TAYBI SYNDROME, LOEYS-DIETZ SYNDROME 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, PROTEUS SYNDROME, SOMATIC

SOX9, TGFBR1, TGFB2, APP, SOX2, NODAL, NOS2, NKX2-5, FLT4, TGFB1, TWIST1, NOTCH1, COL1A1, CPOX, TGFB3, TBX3, AGT, LTBP3, PPARG, BMP2, PKD1, CRB2, TBX5, AKT1, SMARCA4, KDM6A, JAK2, GATA6, PDGFRA, GATA4, NKX2-1, FBN1, JUP, CALR, GLI3, LRP6, HRAS, NOTCH3, JAG1, TGFBR2, SMAD3, SMAD4, CREBBP, ESR1, RBPJ, WNT4, PAX8

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, PSEUDOHYPOALDOSTERONISM, TYPE 2, CORNELIA DE LANGE SYNDROME 3, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, CORNELIA DE LANGE SYNDROME 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ATRIAL SEPTAL DEFECT 5, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LARSEN SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY, CONGENITAL, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LONG QT SYNDROME 15, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, HETEROTOPIA, PERIVENTRICULAR, GLYCOGEN STORAGE DISEASE II, NAXOS DISEASE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT, FRONTOMETAPHYSEAL DYSPLASIA, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CARDIOMYOPATHY, HYPERTROPHIC, 11, MELNICK-NEEDLES SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 4, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, ESTROGEN RESISTANCE, ATRIAL SEPTAL DEFECT 2, RESTRICTIVE DERMOPATHY, LETHAL, LONG QT SYNDROME 14, {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}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, HEART-HAND SYNDROME, SLOVENIAN TYPE, SUPRAVALVAR AORTIC STENOSIS, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, VENTRICULAR SEPTAL DEFECT 1, MALOUF SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, PULMONARY HYPERTENSION, PRIMARY, 3, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, CARDIOMYOPATHY, DILATED, 1A, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA

CALM1, LMNA, CAV1, APOB, SUFU, ACTB, CUL3, TGFB1, ARL2BP, FLNA, STAT1, SYNE1, MT-CO2, SMC1A, FN1, CEP57, PKD1, FLNB, DSP, MRPL44, DST, THRA, JUP, GATA4, CLASP1, APP, SYNE2, HRAS, ACTN2, AKAP9, ACTC1, ESR1, GAA, SMC3

POLYCYTHEMIA VERA, SOMATIC, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, ESSENTIAL HYPERTENSION, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, ATRANSFERRINEMIA, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, THROMBOCYTHEMIA 3, SUPRAVALVAR AORTIC STENOSIS, TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, LEOPARD SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, AU-KLINE SYNDROME

EGFR, SPRY2, TF, SELE, TRPM4, IFNG, CREBBP, HNRNPK, HFE, ESR1, HLA-B, HRAS, CALR, PTPN11, FADD, JAK2, MECP2

POLYCYTHEMIA VERA, SOMATIC, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, HAJDU-CHENEY SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, ATRANSFERRINEMIA, ADAMS-OLIVER SYNDROME 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SUPRAVALVAR AORTIC STENOSIS, TUBEROUS SCLEROSIS 2, DUANE-RADIAL RAY SYNDROME, ALAGILLE SYNDROME 2, RUBINSTEIN-TAYBI SYNDROME, THROMBOCYTHEMIA 3

RPL5, SPRY2, CALR, IFNG, SALL4, CREBBP, HFE, HLA-B, HRAS, TF, JAK2, RBPJ, TGFB1, C3, NOTCH2, FADD

ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, VELOCARDIOFACIAL SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ATRIAL SEPTAL DEFECT 8, ATRIAL STANDSTILL 2, OCULODENTODIGITAL DYSPLASIA, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DIGEORGE SYNDROME, VENTRICULAR SEPTAL DEFECT 2, ESSENTIAL HYPERTENSION, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ATRIAL FIBRILLATION, FAMILIAL, 11, EHLERS-DANLOS SYNDROME, TYPE 3, MYHRE SYNDROME, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), ATRIAL SEPTAL DEFECT 9, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, VENTRICULAR SEPTAL DEFECT 3, LOEYS-DIETZ SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 5, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, ATRIAL SEPTAL DEFECT 2, HYPOPLASTIC LEFT HEART SYNDROME 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, STICKLER SYNDROME, TYPE I, ESTROGEN RESISTANCE, HYPOPLASTIC LEFT HEART SYNDROME 1, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, ULNAR-MAMMARY SYNDROME, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, ATRIAL FIBRILLATION, FAMILIAL, 6, CORNELIA DE LANGE SYNDROME 1, HOLT-ORAM SYNDROME, ROBINOW SYNDROME, CARDIOMYOPATHY, DILATED, 1U, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

TBX1, GJA1, GJA5, NOS2, NPPA, PSEN1, NOS3, GATA6, TBX3, RYR1, GATA5, BMP2, NOTCH1, TBX5, WNT5A, NIPBL, COL2A1, GATA4, APP, MEF2A, CITED2, EGFR, SMAD4, SMAD3, NKX2-5, ESR1, GNAI2, RBPJ

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PARKINSON DISEASE 4, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, ESSENTIAL HYPERTENSION, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, COFFIN-SIRIS SYNDROME 4, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, EHLERS-DANLOS SYNDROME, TYPE 3, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, LOEYS-DIETZ SYNDROME 3, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, RENAL TUBULAR DYSGENESIS, ATRIOVENTRICULAR SEPTAL DEFECT 4, ATRIAL SEPTAL DEFECT 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, TRICHOHEPATOENTERIC SYNDROME 2, AMYLOIDOSIS, FINNISH TYPE, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, VENTRICULAR TACHYCARDIA, IDIOPATHIC, TUBEROUS SCLEROSIS 2, BETHLEM MYOPATHY 1, AURICULOCONDYLAR SYNDROME 3, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, GLUTAMINE DEFICIENCY, CONGENITAL, JOHANSON-BLIZZARD SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, EHLERS-DANLOS SYNDROME, TYPE IV, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, SOX9, F2, PPARG, SOX2, HCCS, SMAD4, COL4A1, COL3A1, GLUL, AGT, SKIV2L, VHL, MTHFR, COL5A2, COL6A1, EDN1, SMARCA4, GNAI2, IFNG, GATA4, PDGFRA, COL1A1, APP, MEF2A, UBR1, AKT1, SNCA, COL1A2, EGFR, PTEN, SMAD3, GSN, DNMT3A, NOTCH1, LRP6, MTOR

ADAMS-OLIVER SYNDROME 5, PARKINSON DISEASE 4, COMBINED HYPERLIPIDEMIA, FAMILIAL, MALONYL-COA DECARBOXYLASE DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, CARDIOMYOPATHY, HYPERTROPHIC 6, PULMONARY HYPERTENSION, PRIMARY, 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, KLEEFSTRA SYNDROME, WOLFF-PARKINSON-WHITE SYNDROME, ?PRUNE BELLY SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, FANCONI ANEMIA, COMPLEMENTATION GROUP A, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CEROID LIPOFUSCINOSIS, NEURONAL, 3, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, [BILIRUBIN, SERUM LEVEL OF, QTL1], COFFIN-SIRIS SYNDROME 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, HAY-WELLS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, GLUCOCORTICOID RESISTANCE, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, CLOVE SYNDROME, SOMATIC, ADAMS-OLIVER SYNDROME 3, DENYS-DRASH SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP O, LONG QT SYNDROME 14, 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, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, TANGIER DISEASE, VLCAD DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), AU-KLINE SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AURICULOCONDYLAR SYNDROME 3, MALFORMATION OF THE HEART, ATRIAL FIBRILLATION, FAMILIAL, 6, PULMONARY HYPERTENSION, PRIMARY, 2, SERKAL SYNDROME, ATRIAL STANDSTILL 2, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, RENAL TUBULAR DYSGENESIS, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, CLN3, UGT1A1, APP, CAV1, LRP6, SMARCA4, APOA1, HNRNPK, SMAD4, NR3C1, MRPL3, TGFB1, PIK3CA, NOS3, LPL, CREBBP, CHRM3, AGT, SMAD9, REN, PPARG, PRKAG2, MT-CO2, GATA5, SALL1, NOTCH1, BRCA1, MTOR, AKT1, BMP2, APOB, ESR1, PSMB8, NR1I3, CPT1A, WT1, RAD51C, PCSK9, FBP1, MLYCD, TWIST1, ACTN4, EDN1, PEX19, EGFR, SNCA, PRKACA, DLD, WNT4, NPPA, ACADVL, TP63, ATIC, RBPJ, PTEN, PAX8

OSTEOGENESIS IMPERFECTA, TYPE I, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, AORTIC VALVE DISEASE 1, PARKINSON DISEASE 4, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, TYPE 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GELEOPHYSIC DYSPLASIA 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE IV, AORTIC ANEURYSM, FAMILIAL THORACIC 9, MARFAN LIPODYSTROPHY SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM

COL1A2, SNCA, TNXB, COL5A1, FBN1, COL3A1, FN1, TGFB1, MFAP5

BARAITSER-WINTER SYNDROME 1, COMBINED HYPERLIPIDEMIA, FAMILIAL, LIPOPROTEIN LIPASE DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 6, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, OCULOECTODERMAL SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE I, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AORTIC VALVE DISEASE 1, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, LOEYS-DIETZ SYNDROME 3, NOONAN SYNDROME 7, CARDIOFACIOCUTANEOUS SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LONG QT SYNDROME 14, 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, LEOPARD SYNDROME 3, TANGIER DISEASE, AMYLOIDOSIS, FINNISH TYPE, AURICULOCONDYLAR SYNDROME 3, CARDIOMYOPATHY, HYPERTROPHIC, 3, OSTEOGENESIS IMPERFECTA, TYPE II, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SERKAL SYNDROME, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, EDN1, ACTB, KRAS, APOA1, TPM1, TGFB1, COL1A2, LPL, MTOR, PRKACA, GATA5, BMP2, PLG, AKT1, APP, FN1, EGFR, ACTA2, PTEN, SMAD3, GSN, BRAF, WNT4

BARAITSER-WINTER SYNDROME 1, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CARDIOFACIOCUTANEOUS SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, LEOPARD SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, FAMILIAL MEDITERRANEAN FEVER, AR, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, MYXOMA, INTRACARDIAC, RENAL TUBULAR DYSGENESIS, CARDIOMYOPATHY, HYPERTROPHIC, 3, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, HYPERTHYROIDISM, NONAUTOIMMUNE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ESSENTIAL HYPERTENSION, AORTIC ANEURYSM, FAMILIAL THORACIC 8, EHLERS-DANLOS SYNDROME, TYPE 3, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, CORNELIA DE LANGE SYNDROME 3, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, OSTEOGENESIS IMPERFECTA, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, 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, BECKER MUSCULAR DYSTROPHY, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ALAGILLE SYNDROME 2, PULMONARY HYPERTENSION, PRIMARY, 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CORNELIA DE LANGE SYNDROME 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?PRUNE BELLY SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 6, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CARNEY COMPLEX, TYPE 1, NOONAN SYNDROME 7, SERKAL SYNDROME, HETEROTOPIA, PERIVENTRICULAR, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, CAV3, ACTB, CAV1, APP, GJA1, APOA1, SHOC2, NOS2, PTEN, ACTG1, AGTR1, TPM1, NTRK1, GDNF, NOTCH2, LPL, STAT1, F2, AGT, TGFB1, DMD, SNCA, FGFR1, ESR1, PRKACA, GATA5, BMP2, PRKAR1A, PTPN11, PLG, AKT1, FN1, ABCA1, MEFV, CBL, ACTN4, BRAF, IFNG, EGFR, LRP2, WNT4, TGFBR1, DES, PRKG1, EDN1, HRAS, COL1A2, CDKN1C, ACTN2, ACTA2, TSHR, TGFBR2, SMC1A, SMAD3, NR3C1, GSN, CHRM3, FLNA, C10orf2, NOTCH1, SMC3, MTOR

LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AORTIC ANEURYSM, FAMILIAL THORACIC 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, COFFIN-SIRIS SYNDROME 4, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, CARDIAC VALVULAR DYSPLASIA, X-LINKED, MELNICK-NEEDLES SYNDROME, ATRIAL SEPTAL DEFECT 9, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 5, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, ATRIAL SEPTAL DEFECT 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LONG QT SYNDROME 14, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 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, MYOPATHY, MYOFIBRILLAR, 1, AU-KLINE SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, VENTRICULAR SEPTAL DEFECT 1, KABUKI SYNDROME 1, HAY-WELLS SYNDROME, HETEROTOPIA, PERIVENTRICULAR, RENAL TUBULAR DYSGENESIS, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, SOX9, APP, FLNA, MYH11, SMARCA4, ERBB3, HNRNPK, SEMA3E, TGFB1, GATA6, KMT2D, AGT, MTOR, PPARG, ESR1, USP9X, AKT1, GATA4, CLASP1, TGFBR1, DES, FN1, SNCA, SMAD3, TP63, BMPR2

BARAITSER-WINTER SYNDROME 1, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, MULIBREY NANISM, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FAMILIAL MEDITERRANEAN FEVER, AR, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, MYOTONIC DYSTROPHY 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, 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, CARDIOFACIOCUTANEOUS SYNDROME, OPITZ GBBB SYNDROME, TYPE II, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, LEOPARD SYNDROME 3, CARDIOMYOPATHY, DILATED, 1CC, SUPRAVALVAR AORTIC STENOSIS, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, MYXOMA, INTRACARDIAC, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, RENAL TUBULAR DYSGENESIS, CARDIOMYOPATHY, HYPERTROPHIC, 3, ATRIAL SEPTAL DEFECT 5, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, PULMONARY HYPERTENSION, PRIMARY, 3, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ALSTROM SYNDROME, BECKWITH-WIEDEMANN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ESSENTIAL HYPERTENSION, AORTIC ANEURYSM, FAMILIAL THORACIC 8, EHLERS-DANLOS SYNDROME, TYPE 3, CARDIOMYOPATHY, HYPERTROPHIC, 20, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, DENYS-DRASH SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, 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, COFFIN-LOWRY SYNDROME, SERKAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, SHWACHMAN-DIAMOND SYNDROME, NON-IMMUNE HYDROPS FETALIS, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, CORNELIA DE LANGE SYNDROME 3, HETEROTOPIA, PERIVENTRICULAR, 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, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, VENTRICULAR SEPTAL DEFECT 3, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, NOONAN SYNDROME 10, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ATRIAL SEPTAL DEFECT 2, 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, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, TANGIER DISEASE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, BECKER MUSCULAR DYSTROPHY, ?CHARGE SYNDROME, CHARGE SYNDROME, VENTRICULAR TACHYCARDIA, IDIOPATHIC, VENTRICULAR SEPTAL DEFECT 1, HEMOCHROMATOSIS TYPE 1, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, ALAGILLE SYNDROME 2, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, HYPERTHYROIDISM, NONAUTOIMMUNE, ATRIAL STANDSTILL 2, OPITZ GBBB SYNDROME, TYPE I, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, CORNELIA DE LANGE SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, CARNEY COMPLEX, TYPE 1, MYHRE SYNDROME, NOONAN SYNDROME 7, CUTIS LAXA, AD, AORTIC ANEURYSM, FAMILIAL THORACIC 7, PSEUDOHYPOALDOSTERONISM, TYPE IIE, MECKEL SYNDROME 4, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, COMBINED HYPERLIPIDEMIA, FAMILIAL, ATRIAL FIBRILLATION, FAMILIAL, 6, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, 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, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, CAV1, FGFR1, APOB, COL1A1, TPM1, CUL3, COL1A2, F2, AGT, AGTR1, ASCC1, PRKAR1A, EDN1, PKD1, PLG, DST, WT1, CLASP1, DES, PKHD1, MEFV, TGFBR2, ACTC1, CREBBP, GNAI2, SPECC1L, WNT4, ACTA1, SHOC2, RASA1, ACTB, ERBB3, ELN, BRAF, NPPA, SEMA3E, NOS3, NEXN, GDNF, TPM3, EDNRA, MID1, ABCA1, JAK2, CBL, IFNG, MYLK, VPS33B, TGFBR1, PRKG1, RBPJ, SPRY2, ACTA2, SMC1A, RPS6KA3, ADD1, SMC3, CAV3, SMAD4, SBDS, CTCF, CEP290, STAT1, TGFB3, DMD, KIF1B, BMP2, BRCA1, FN1, AKAP9, CFTR, APOA1, EGFR, NOTCH2, NOS2, AKT1, SNCA, CDKN1C, TSHR, PTEN, ALMS1, NKX2-5, GSN, TSC1, CHRM3, FLNA, HNRNPK, ACTG1, NTRK1, PTPN11, LPL, GATA4, TGFB1, DMPK, ESR1, PRKACA, GATA5, NOTCH1, MYLK2, SOS1, ACTN4, TRIM37, LZTR1, PDGFRA, GNAS, APP, MEF2A, HRAS, LRP2, ACTN2, SMAD3, NR3C1, NEB, C10orf2, KIF1BP, MTOR

BARAITSER-WINTER SYNDROME 1, COMBINED HYPERLIPIDEMIA, FAMILIAL, LIPOPROTEIN LIPASE DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 6, TANGIER DISEASE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ALSTROM SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, OSTEOGENESIS IMPERFECTA, TYPE I, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, TUBEROUS SCLEROSIS-1, AURICULOCONDYLAR SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, LOEYS-DIETZ SYNDROME 3, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, NOONAN SYNDROME 7, CARDIOFACIOCUTANEOUS SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CARDIOMYOPATHY, HYPERTROPHIC, 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LEOPARD SYNDROME 3, AORTIC ANEURYSM, FAMILIAL THORACIC 4, AMYLOIDOSIS, FINNISH TYPE, SUPRAVALVAR AORTIC STENOSIS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, ATRIAL FIBRILLATION, FAMILIAL, 6, HYPERTHYROIDISM, NONAUTOIMMUNE, MYXOMA, INTRACARDIAC, ATRIAL STANDSTILL 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, OSTEOGENESIS IMPERFECTA, TYPE II, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, LONG QT SYNDROME 14, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SERKAL SYNDROME, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, ACTB, MYH11, APOA1, NPPA, TPM1, ALMS1, GNAS, TGFB1, COL1A2, LPL, MTOR, PRKACA, GATA5, BMP2, PRKAR1A, PLG, AKT1, FN1, ACTN4, LRP2, APP, GDNF, EDN1, HRAS, EGFR, ACTN2, ACTA2, TSHR, WNT4, SMAD3, GSN, TSC1, BRAF, PTEN

BARAITSER-WINTER SYNDROME 1, WOLFF-PARKINSON-WHITE SYNDROME, BECKWITH-WIEDEMANN SYNDROME, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, VENTRICULAR SEPTAL DEFECT 1, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 2, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, NEUROFIBROMATOSIS-NOONAN SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, WERNER SYNDROME, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION 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, CORNELIA DE LANGE SYNDROME 3, LEOPARD SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, NOONAN SYNDROME 4, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, AURICULOCONDYLAR SYNDROME 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, MYXOMA, INTRACARDIAC, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, WARSAW BREAKAGE SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ATRIAL SEPTAL DEFECT 5, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, ATRIAL FIBRILLATION, FAMILIAL, 12, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, ESSENTIAL HYPERTENSION, DIAMOND-BLACKFAN ANEMIA 6, LOEYS-DIETZ SYNDROME 3, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, ATRIOVENTRICULAR SEPTAL DEFECT 4, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, OCCIPITAL HORN SYNDROME, ADAMS-OLIVER SYNDROME 3, FANCONI ANEMIA, COMPLEMENTATION GROUP O, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, LEBER OPTIC ATROPHY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, MYOFIBRILLAR, 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, COCKAYNE SYNDROME, TYPE B, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, CARPENTER SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP C, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NOONAN SYNDROME 8, SPINAL MUSCULAR ATROPHY-1, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, PALLISTER-HALL SYNDROME, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HETEROTOPIA, PERIVENTRICULAR, BURN-MCKEOWN SYNDROME, THROMBOCYTHEMIA 3, NESTOR-GUILLERMO PROGERIA SYNDROME, 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, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEFT VENTRICULAR NONCOMPACTION 7, COFFIN-SIRIS SYNDROME 4, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, BALLER-GEROLD SYNDROME, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SITOSTEROLEMIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, LIANG DISTAL MYOPATHY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, PULMONARY HYPERTENSION, PRIMARY, 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MYOTONIC DYSTROPHY 2, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, TANGIER DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, MALFORMATION OF THE HEART, CORNELIA DE LANGE SYNDROME 1, HYPERTHYROIDISM, NONAUTOIMMUNE, 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, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?PRUNE BELLY SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, CARDIOMYOPATHY, HYPERTROPHIC, 11, DILATED CARDIOMYOPATHY 1DD, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, MENKES DISEASE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, PSEUDOHYPOALDOSTERONISM, TYPE IIC, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, NEUROFIBROMATOSIS, TYPE 1, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, CILIARY DYSKINESIA, PRIMARY, 6, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, KARTAGENER SYNDROME, NOONAN SYNDROME 7, LONG QT SYNDROME 14, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, AORTIC ANEURYSM, FAMILIAL THORACIC 7, PSEUDOHYPOALDOSTERONISM, TYPE IIE, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PSEUDOHYPOALDOSTERONISM, TYPE 2, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, MYHRE SYNDROME, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BERGER DISEASE, COFFIN-LOWRY SYNDROME, CODAS SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, RPL5, BRCA2, CAV1, CNBP, PRKACA, ACTB, CUL3, EFTUD2, ATP6V1B2, AGT, PRKAR1A, DNAH5, RECQL4, MYH7, KIF7, KIF1B, NF1, ERCC6, TGFBR1, DNAH8, DES, PIK3CA, WNK1, KCNMB1, ACTC1, PRKAG2, LIPT1, GNAI2, DYNC2H1, PTEN, ACTA1, RASA1, ATRX, APOA2, KRAS, APOA1, ABCC6, NME1, DDX11, WRN, GNAS, NOS3, SKIV2L, CHRM3, TAF6, ABCA1, IFNG, GTPBP3, PIGT, LONP1, GNB3, JAK2, TPM2, MYLK, VPS33B, AVPR2, MIB1, ABCG8, RBPJ, MT-CYB, SPRY2, TSHR, TNNT2, RPS6KA3, ENPP1, BRAF, SMC3, SOS2, BANF1, FLNC, REN, NRAS, MT-ATP6, SMAD4, CBS, PEX19, SNIP1, ITPA, STAT1, GMPPB, F5, VHL, SMARCAL1, BMP2, AKT1, SMARCA4, TXNL4A, NDUFS1, CFTR, SEC63, ATP5A1, SLC25A4, RAF1, ABCD4, EDN1, SNCA, DNAH1, PIGR, CDKN1C, FANCA, HSPA9, PEX5, RAD51C, NME8, MYH6, PEX1, FLNA, RAB23, IGHMBP2, ACTG1, PIK3R2, ABCG5, ATP1B1, CENPE, GATA4, DDX58, ATP7A, TGFB1, MT-CO2, FXN, SOS1, ACTN4, ABCC9, FANCC, RTEL1, CLASP1, APP, RIT1, HRAS, EGFR, ACTN2, MYH9, CALR, EPOR, SMAD3, NR3C1, ESR1, MT-CO1, MTOR

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ADAMS-OLIVER SYNDROME 3, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, COPROPORPHYRIA, HARDEROPORPHYRIA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, EVEN-PLUS SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, SUPRAVALVAR AORTIC STENOSIS, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT

HMBS, HSPA9, MUT, CAV3, CPOX, MT-CO2, FXN, COX15, COX10, PPOX, RBPJ, MMACHC, SOS1, HRAS

HETEROTAXY, VISCERAL, 5, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, GLUCOCORTICOID RESISTANCE, 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, CARDIOFACIOCUTANEOUS SYNDROME, LEOPARD SYNDROME 3, MEDULLARY CYSTIC KIDNEY DISEASE 1, SUPRAVALVAR AORTIC STENOSIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, KABUKI SYNDROME 2, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, AORTIC VALVE DISEASE 2, PULMONARY HYPERTENSION, PRIMARY, 2, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, LOEYS-DIETZ SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, HOLT-ORAM SYNDROME, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, CHAR SYNDROME, NOONAN SYNDROME 4, COFFIN-SIRIS SYNDROME 4, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, LIANG DISTAL MYOPATHY, ATRIAL SEPTAL DEFECT 2, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PULMONARY VENOOCCLUSIVE DISEASE 1, TUBEROUS SCLEROSIS 2, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, OPITZ GBBB SYNDROME, TYPE I, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GELEOPHYSIC DYSPLASIA 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HAY-WELLS SYNDROME, MYHRE SYNDROME, ULNAR-MAMMARY SYNDROME, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, MECKEL SYNDROME 4, PALLISTER-HALL SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, ESSENTIAL HYPERTENSION, ATRIAL FIBRILLATION, FAMILIAL, 6, WEILL-MARCHESANI SYNDROME 2, DOMINANT, PROTEUS SYNDROME, SOMATIC

ACTA1, NPPA, SOX9, SMAD6, CAV1, WNT5A, APP, KMT2A, NODAL, NOS2, SMAD4, PRKACA, FAT4, AKT1, TGFB1, GDNF, NOTCH1, SMARCA4, STAT1, MUC1, TBX3, SMAD9, GDF2, SNCA, PPARG, ACVRL1, MID1, GATA5, BMP2, CEP290, TBX5, TFAP2B, SOX2, KDM6A, SOS1, ESR1, MYH7, CREBBP, FOXP1, BRCA1, IFNG, WT1, MYCN, FBN1, GATA4, RET, GLI3, FN1, HRAS, EGFR, SPRY2, SELE, TGFBR2, ZEB2, SMAD3, SALL1, NR3C1, BRAF, TP63, PAX8, GNAI2, MYH6, SF3B4, BMPR2

LOEYS-DIETZ SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, HETEROTAXY, VISCERAL, 5, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYHRE SYNDROME, ULNAR-MAMMARY SYNDROME, LOEYS-DIETZ SYNDROME 3, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, PALLISTER-HALL SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, LOEYS-DIETZ SYNDROME 2, TUBEROUS SCLEROSIS 2, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, HAY-WELLS SYNDROME

STAT1, FOXP1, SOX2, TBX3, SMAD3, TGFBR2, PPARG, TP63, EGFR, ACVRL1, KMT2A, SMAD4, SOX9, NODAL, CAV1, GLI3, SF3B4, IFNG

BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, 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, DONNAI-BARROW SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, MYOPATHY, MYOFIBRILLAR, 2, STICKLER SYNDROME, TYPE I, HERMANSKY-PUDLAK SYNDROME 1, MEDULLARY CYSTIC KIDNEY DISEASE 1, SUPRAVALVAR AORTIC STENOSIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, 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, LOEYS-DIETZ SYNDROME 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PULMONARY HYPERTENSION, PRIMARY, 2, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, SADDAN, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, VLCAD DEFICIENCY, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, LUJAN-FRYNS SYNDROME, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, FRONTOMETAPHYSEAL DYSPLASIA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, ALAGILLE SYNDROME, RENAL TUBULAR DYSGENESIS, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, COFFIN-LOWRY SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, NON-IMMUNE HYDROPS FETALIS, POLYCYTHEMIA VERA, SOMATIC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, 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, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, DIGEORGE SYNDROME, AYME-GRIPP SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, NOONAN SYNDROME 10, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PULMONARY VENOOCCLUSIVE DISEASE 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HEMOCHROMATOSIS TYPE 1, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, BECKWITH-WIEDEMANN SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, CARDIOMYOPATHY, HYPERTROPHIC, 11, ?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, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, GELEOPHYSIC DYSPLASIA 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ATRIOVENTRICULAR SEPTAL DEFECT 5, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ESTROGEN RESISTANCE, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11 WITH MILD PALMOPLANTAR KERATODERMA AND WOOLLY HAIR, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 11, MECKEL SYNDROME 4, PALLISTER-HALL SYNDROME, MYHRE SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 6, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, SERKAL SYNDROME, CARDIOMYOPATHY, DILATED, 1II, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, CAV1, PLOD3, WNT5A, COL1A1, SALL1, ACTB, GNAS, COL1A2, MUC1, AGT, PPARG, DSG1, KDM6A, SALL4, FBP1, EFEMP2, JAG1, TGFBR2, ACTC1, CREBBP, GNAI2, RBPJ, SF3B4, PTEN, ACTA1, SOX9, SOX2, ERBB3, LZTR1, NOS3, CPOX, LMNB1, GDNF, FGFR1, TAF6, DSP, COL2A1, JAK2, STAT1, JUP, NKX2-1, TGFBR1, PRKG1, ROR2, SPRY2, KRAS, ACADVL, RPS6KA3, TP63, TBX1, LRP6, PAX8, GATA1, PTCH1, APP, MUC5B, SMAD4, SNRPB, DVL3, FLT4, SMAD9, MEF2A, CEP290, DSC2, VHL, COL4A1, BMP2, FN1, SMARCA4, FOXC2, TAF2, LRP2, FBN1, GLI3, EDN1, GATA6, CDKN1C, RAF1, FGFR3, NPPA, MAF, ACVRL1, MYH6, FLNA, MYH11, FZD6, HNRNPK, ACTG1, FOXP1, PRKCSH, AKT1, TGFB1, PTRF, GATA4, GATA5, HLA-B, NOTCH1, PLG, MED12, FGFR2, COL4A3, WT1, CPT1A, THRA, CRYAB, RET, CTCF, FOXF1, HRAS, EGFR, WNT4, ADAM17, SMAD3, ESR1, BMPR2, HPS1, PEX5

ADAMS-OLIVER SYNDROME 5, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, KLEEFSTRA SYNDROME, POLYCYSTIC LIVER DISEASE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ESSENTIAL HYPERTENSION, [BILIRUBIN, SERUM LEVEL OF, QTL1], AORTIC VALVE DISEASE 1, COFFIN-SIRIS SYNDROME 4, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP O, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MALFORMATION OF THE HEART, SERKAL SYNDROME

SMARCA4, RAD51C, MRPL3, NR1I3, LRP5, PTEN, UGT1A1, PPARG, BMP2, NOS2, ESR1, KL, LRP6, TGFB1, WNT4, NOTCH1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, COPROPORPHYRIA, HARDEROPORPHYRIA, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EVEN-PLUS SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, [BILIRUBIN, SERUM LEVEL OF, QTL1], DONNAI-BARROW SYNDROME, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ADAMS-OLIVER SYNDROME 3, LONG QT SYNDROME 14, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, SUPRAVALVAR AORTIC STENOSIS, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, MYOPATHY, DISTAL, TATEYAMA TYPE, MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME (INCLUDES SANDO AND SCAE), METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE

CALM1, UGT1A1, CAV3, NOS3, CPOX, MYH9, FXN, PPOX, MMACHC, COX10, CBL, MRPL3, MUT, HMBS, COX15, SOS1, HRAS, LRP2, ABCD4, HSPA9, STAMBP, C10orf2, RBPJ

PEROXISOME BIOGENESIS DISORDER 8A, (ZELLWEGER), WOLFF-PARKINSON-WHITE SYNDROME, STAR SYNDROME, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, GLUTAMINE DEFICIENCY, CONGENITAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, DIAMOND-BLACKFAN ANEMIA 4, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, DIAMOND-BLACKFAN ANEMIA 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 1, SUPRAVALVAR AORTIC STENOSIS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, STROMME SYNDROME, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, ESTROGEN RESISTANCE, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, MYXOMA, INTRACARDIAC, PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER), RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUSCULAR DYSTROPHY, CONGENITAL, ESSENTIAL HYPERTENSION, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, ATRIAL SEPTAL DEFECT 9, PEROXISOME BIOGENESIS DISORDER 14B, LOEYS-DIETZ SYNDROME 3, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ADAMS-OLIVER SYNDROME 3, 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, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2, ?DIAMOND-BLACKFAN ANEMIA 11, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, MALOUF SYNDROME, DIAMOND-BLACKFAN ANEMIA 10, GALACTOSIALIDOSIS, COCKAYNE SYNDROME, TYPE B, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HEART-HAND SYNDROME, SLOVENIAN TYPE, EVEN-PLUS SYNDROME, HETEROTOPIA, PERIVENTRICULAR, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, TIMOTHY SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, THROMBOCYTHEMIA 3, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, VENTRICULAR SEPTAL DEFECT 3, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE V, COFFIN-SIRIS SYNDROME 4, CARDIOMYOPATHY, HYPERTROPHIC 6, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?DIAMOND-BLACKFAN ANEMIA 12, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, COWDEN SYNDROME 7, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, MAY-HEGGLIN ANOMALY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, 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, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, TUBEROUS SCLEROSIS-1, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, CARDIOMYOPATHY, DILATED, 1A, ROBINOW SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, ?ATRIAL FIBRILLATION 15, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, CPT DEFICIENCY, HEPATIC, TYPE IA, PHYTANIC ACID STORAGE DISEASE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CARDIOMYOPATHY, HYPERTROPHIC, 17, BARDET-BIEDL SYNDROME 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, TARP SYNDROME, CARNEY COMPLEX, TYPE 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ATRIOVENTRICULAR SEPTAL DEFECT 5, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, DYSAUTONOMIA, FAMILIAL, 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, BEAULIEU-BOYCOTT-INNES SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, DIAMOND-BLACKFAN ANEMIA 1, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, TRNT1, CAV1, WNT5A, PDE4D, DNAJC19, PKD1, PRKACA, CUL3, CENPF, PSEN1, GATA5, RPL5, RPS26, AGT, PPARG, AGTR1, PRKAR1A, PHYH, EDN1, GJA1, RYR2, KMT2A, ERCC6, RPL15, FAM58A, WNK1, EFEMP2, RPS19, BBS2, TGFBR2, SMAD4, CREBBP, VIPAS39, PRKAG2, GNAI2, DYNC2H1, SF3B4, JPH2, APOB, TGFB2, SOX2, RBM8A, CBL, MAP2K2, NKX2-5, NME1, ACTN4, NOS3, GLUL, RYR1, EDNRA, CTSA, JAK2, DSP, IKBKAP, LMNA, RPL11, IFNG, RBM10, TRDN, VPS33B, AAAS, TGFBR1, GDNF, RBPJ, SPRY2, AVPR2, STAMBP, SEC23B, RPL26, PAM16, GATA1, CAV3, BANF1, CALR, REN, SHOC2, HSD17B10, SNRPB, DVL3, PEX19, SNIP1, STAT1, TGFB3, PEX11B, SOX9, NUP155, CASQ2, FN1, SMARCA4, AIP, ANK2, DTNBP1, RPS17, PEX3, SEC63, EGFR, SLC25A4, HNRNPK, AKT1, SNCA, HSPA9, PEX5, F13A1, TSC1, CHRM3, PEX1, FLNA, SMARCB1, NOS2, NOTCH1, PIK3R2, TGFB1, PRKCSH, CENPE, GATA6, MYH9, ESR1, MT-CO2, CACNA1C, PTPN11, PACS1, CPT1A, THOC6, STRADA, APP, MEF2A, PTEN, HRAS, PEX16, LRP2, ACTN2, SMAD3, PEX2, PEX7, C10orf2

BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, STAR SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, HETEROTAXY, VISCERAL, 5, {CARDIAC CONDUCTION DEFECT, SUSCEPTIBILITY TO}, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, STICKLER SYNDROME, TYPE I, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, CARDIOMYOPATHY, DILATED, 1CC, SUPRAVALVAR AORTIC STENOSIS, FRONTOMETAPHYSEAL DYSPLASIA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AURICULOCONDYLAR SYNDROME 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, LOEYS-DIETZ SYNDROME 3, MYXOMA, INTRACARDIAC, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, RENAL TUBULAR DYSGENESIS, CARDIOMYOPATHY, HYPERTROPHIC, 3, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, BECKWITH-WIEDEMANN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, ESSENTIAL HYPERTENSION, CARDIOMYOPATHY, HYPERTROPHIC, 18, RUBINSTEIN-TAYBI SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CARDIOMYOPATHY, HYPERTROPHIC, 25, EHLERS-DANLOS SYNDROME, TYPE 3, CARDIOMYOPATHY, HYPERTROPHIC, 20, LUJAN-FRYNS SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, NAXOS DISEASE, CHOANAL ATRESIA AND LYMPHEDEMA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ?MENTAL RETARDATION, X-LINKED, SYNDROMIC 32, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, CARDIOMYOPATHY, HYPERTROPHIC, 4, MYOPATHY, MYOFIBRILLAR, 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CARPENTER SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HETEROTOPIA, PERIVENTRICULAR, TIMOTHY SYNDROME, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OCULOECTODERMAL SYNDROME, COFFIN-SIRIS SYNDROME 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, DUCHENNE MUSCULAR DYSTROPHY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CLOVE SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, BECKER MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PULMONARY VENOOCCLUSIVE DISEASE 1, HEMOCHROMATOSIS TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, CARDIOMYOPATHY, DILATED, 1A, ROBINOW SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, LIPOPROTEIN LIPASE DEFICIENCY, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, NEUROFIBROMATOSIS, TYPE 1, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MECKEL SYNDROME 4, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PALLISTER-HALL SYNDROME, MYHRE SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 5, WITH OR WITHOUT MUSCLE WEAKNESS, COMBINED HYPERLIPIDEMIA, FAMILIAL, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CARDIOMYOPATHY, DILATED, 1II, DIAMOND-BLACKFAN ANEMIA 1, CARDIOMYOPATHY, DILATED, 1U, AU-KLINE SYNDROME, LOEYS-DIETZ SYNDROME 4, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, PDE4D, CAV1, FGFR1, APOB, PKD1, PRKACA, ACTB, GNAS, PSEN1, SMARCA4, GATA5, KLF1, F2, AGT, PPARG, ASCC1, PRKAR1A, EDN1, WNT5A, RYR2, SALL1, PTPN14, SUFU, FAM58A, DES, PIK3CA, EMD, SMAD4, CREBBP, GNAI2, RBPJ, SF3B4, PTEN, HTRA1, ACTA1, SOX9, RASA1, TPM1, APOA2, KRAS, ERBB3, MAP2K2, ACTN4, NOS3, THRA, RYR1, EDNRA, MYBPC3, JAK2, COL2A1, MRPL44, IFNG, MYLK, JUP, AAAS, GLIS3, TGFBR1, NEXN, PRKG1, TMEM173, LRP6, BMPR2, CAV3, CALR, GJA1, TGFB2, HSD17B10, DVL3, CEP290, STAT1, TGFB3, LRP5, DMD, VHL, CASQ2, BMP2, FN1, SOX2, CFTR, RAB23, LDLR, LRP2, ATP5A1, NOS2, CLIC2, GLI3, AKT1, SNCA, CDKN1C, RPS19, NF1, F13A1, AKAP10, CHRM3, PLN, FLNA, MYH11, NODAL, HNRNPK, PIK3R2, TGFB1, PTPN11, LPL, DDX58, ANK2, MT-CO2, CACNA1C, NOTCH1, MYLK2, MED12, RBCK1, PACS1, CPOX, CRYAB, APP, FOXF1, HRAS, EGFR, ACTN2, TCAP, SMAD3, NR3C1, ESR1, TRDN, MTOR, SKI

PARKINSON DISEASE 4, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, CARDIAC VALVULAR DYSPLASIA, X-LINKED, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), LONG QT SYNDROME 14, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 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, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, POLYCYSTIC LIVER DISEASE, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, PULMONARY HYPERTENSION, PRIMARY, 3, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, DYSAUTONOMIA, FAMILIAL, RUBINSTEIN-TAYBI SYNDROME, HETEROTOPIA, PERIVENTRICULAR, RENAL TUBULAR DYSGENESIS, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SERKAL SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, EDN1, CAV1, REN, NOS2, NR3C1, DHCR7, TGFB1, NOS3, LRP5, AGT, PPARG, BMP2, FLNA, AKT1, APOB, IFNG, APP, FN1, SNCA, SPRY2, WNT4, CREBBP, PEX2, ESR1, IKBKAP, LRP6, PTEN

LOEYS-DIETZ SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, KLEEFSTRA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ESSENTIAL HYPERTENSION, [BILIRUBIN, SERUM LEVEL OF, QTL1], {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, MYHRE SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, AURICULOCONDYLAR SYNDROME 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, LOEYS-DIETZ SYNDROME 2, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ATRIAL FIBRILLATION, FAMILIAL, 6, ATRIAL STANDSTILL 2, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LOEYS-DIETZ SYNDROME 4, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

UGT1A1, EDN1, TGFB2, APOB, APOA1, NPPA, TGFB1, NOS3, APOA2, PPARG, BMP2, PTPN11, PLG, FN1, BAAT, MRPL3, NR1I3, APP, AKT1, CDKN1C, ACTN2, TGFBR2, SMAD4, LRP6, ATIC

BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, WOLFF-PARKINSON-WHITE SYNDROME, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, DIGEORGE SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HEPATIC LIPASE DEFICIENCY, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, ADAMS-OLIVER SYNDROME 6, CHAR SYNDROME, WOLFRAM SYNDROME, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, 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, NEUROFIBROMATOSIS-NOONAN SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, STICKLER SYNDROME, TYPE I, HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION, {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, RIEGER OR AXENFELD ANOMALIES, AXENFELD-RIEGER SYNDROME, TYPE 3, LEOPARD SYNDROME 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, MEDULLARY CYSTIC KIDNEY DISEASE 1, SUPRAVALVAR AORTIC STENOSIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, LOEYS-DIETZ SYNDROME 5, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W, LOEYS-DIETZ SYNDROME 2, VELOCARDIOFACIAL SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), KABUKI SYNDROME 2, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, DUANE-RADIAL RAY SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, AORTIC VALVE DISEASE 2, OGDEN SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RUBINSTEIN-TAYBI SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, RENAL TUBULAR DYSGENESIS, SADDAN, JOHANSON-BLIZZARD SYNDROME, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, ULNAR-MAMMARY SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, CARDIOMYOPATHY, DILATED, 1HH, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ATRIAL SEPTAL DEFECT 8, NOONAN SYNDROME 10, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, LUJAN-FRYNS SYNDROME, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, FEINGOLD SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, EHLERS-DANLOS SYNDROME, TYPE 3, SECKEL SYNDROME 2, LOEYS-DIETZ SYNDROME 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, NAXOS DISEASE, ATRIAL SEPTAL DEFECT 9, FRONTOMETAPHYSEAL DYSPLASIA, ATRANSFERRINEMIA, CARDIOMYOPATHY, HYPERTROPHIC 6, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, OCCIPITAL HORN SYNDROME, ADAMS-OLIVER SYNDROME 3, DENYS-DRASH SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COFFIN-SIRIS SYNDROME 3, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MICROPHTHALMIA, SYNDROMIC 12, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 1, CORNELIA DE LANGE SYNDROME 2, AMYLOIDOSIS, FINNISH TYPE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, LONG QT SYNDROME 15, MYOPATHY, DISTAL, TATEYAMA TYPE, CARDIOMYOPATHY, HYPERTROPHIC, 3, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SERKAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, AL-RAQAD SYNDROME, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, KLEEFSTRA SYNDROME, 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, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, VENTRICULAR SEPTAL DEFECT 3, CARDIOMYOPATHY, DILATED, 1II, AYME-GRIPP SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, AURICULOCONDYLAR SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, HELSMOORTEL-VAN DER AA SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, HEMOCHROMATOSIS, TYPE 4, PULMONARY HYPERTENSION, PRIMARY, 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, MYOTONIC DYSTROPHY 2, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, TANGIER DISEASE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MYOPATHY, MYOFIBRILLAR, 4, ?CHARGE SYNDROME, CHARGE SYNDROME, VENTRICULAR TACHYCARDIA, IDIOPATHIC, PULMONARY VENOOCCLUSIVE DISEASE 1, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, HEMOCHROMATOSIS TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, ALAGILLE SYNDROME 2, ALAGILLE SYNDROME, CORNELIA DE LANGE SYNDROME 1, HYPERTHYROIDISM, NONAUTOIMMUNE, ATRIAL STANDSTILL 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, FRAGILE X SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, COPROPORPHYRIA, HARDEROPORPHYRIA, LIPOPROTEIN LIPASE DEFICIENCY, ROBINOW SYNDROME, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, MYOPATHY, MYOFIBRILLAR, 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?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, MENKES DISEASE, VENTRICULAR SEPTAL DEFECT 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, APERT SYNDROME, CEROID LIPOFUSCINOSIS, NEURONAL, 3, FANCONI ANEMIA, COMPLEMENTATION GROUP D2, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HAY-WELLS SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, WATSON SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, NOONAN SYNDROME 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, MECKEL SYNDROME 4, PALLISTER-HALL SYNDROME, MYHRE SYNDROME, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BEAULIEU-BOYCOTT-INNES SYNDROME, COMBINED HYPERLIPIDEMIA, FAMILIAL, ATRIAL FIBRILLATION, FAMILIAL, 6, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, KABUKI SYNDROME 1, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, DYSAUTONOMIA, FAMILIAL, CARDIOMYOPATHY, DILATED, 1V, HETEROTOPIA, PERIVENTRICULAR, CARDIOMYOPATHY, DILATED, 1U, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, CARDIOMYOPATHY, DILATED, 1C, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, HYPERTROPHIC, 24, LEFT VENTRICULAR NONCOMPACTION 3, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, ?PRUNE BELLY SYNDROME, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, PDE4D, DCPS, BRCA2, CAV1, EDNRA, CLN3, MECP2, NAA10, PRKACA, ACTB, GNAS, GLI3, COL1A2, FXN, MUC1, CYP11B2, F2, TBX3, RBBP8, TP63, PPARG, LDB3, AGTR1, NOTCH3, ASCC1, EDN1, APOB, KDM6A, PAX8, ECE1, CITED2, FMR1, WT1, GATA4, IKBKAP, BAG3, COL1A1, DES, PIK3CA, PKHD1, TFAP2B, NOTCH1, EFEMP2, JAG1, TGFBR2, DLD, DLL4, ACTC1, CNBP, WFS1, PRKAG2, GNAI2, LRP6, RBPJ, SF3B4, NF1, RARB, SMARCB1, ACTA1, ACE, RASA1, TPM1, CHD7, LIMS2, XRCC4, SOX2, ERBB3, PROC, NKX2-5, CREBBP, NME1, NOTCH2, NOS3, GSN, THRA, LMNB1, GDNF, MTOR, FGFR1, CHRM3, NR2F2, PKD1, CEP290, HNRNPK, KRAS, PYCR1, CALR, CBL, PSMB8, COL2A1, GNB3, PSEN1, CRYAB, JAK2, FOXC1, JUP, NKX2-1, GLIS3, PDE3A, TGFBR1, FGFR3, PRKG1, ROR2, SPRY2, TSHR, SMC1A, LIPC, RPS6KA3, AGT, STAMBP, KMT2A, FANCD2, ADD1, TGFB3, SMC3, BMPR2, GATA1, PTCH1, CAV3, TTR, SMAD6, BMP1, SOX9, TGFB2, SMAD4, DVL3, MYCN, F13A1, FLT4, MEF2A, UBR1, POLR1A, PSEN2, FLNA, MED12, GJA1, VHL, BMP2, BRCA1, AKT1, SMARCA4, WNT5A, FOXC2, CFTR, APOA1, TAF2, LRP2, SLC25A4, RAF1, HCCS, VPS33B, AVPR2, TWIST1, FN1, SNCA, CDKN1C, FANCA, HSPA9, PTEN, ECHS1, LZTR1, KCNH1, MAF, BRAF, ACVRL1, NPPA, F5, MYH6, NRAS, ZFPM2, SLC40A1, SMAD3, FZD6, NOS2, ACTG1, NTRK1, KMT2C, PTPN11, LPL, GATA6, KMT2D, KLF1, ATP7A, TGFB1, REN, STAT1, TSC1, MT-CO2, GATA5, HLA-B, DHCR24, SELE, FADD, LDLR, RBCK1, FGFR2, ACTN4, TBX1, LRP5, SALL4, THOC6, CPOX, GPX4, PCSK9, APP, RET, CTCF, FOXF1, SYNE2, HRAS, EGFR, ACTN2, WNT4, ADNP, TF, EPOR, MYH11, NR3C1, ESR1, ATIC, C10orf2, KIF1BP, SKI

TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, ATRANSFERRINEMIA, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, TUBEROUS SCLEROSIS 2, POLYCYTHEMIA VERA, SOMATIC, ALAGILLE 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, RUBINSTEIN-TAYBI SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, THROMBOCYTHEMIA 3, ADAMS-OLIVER SYNDROME 3, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, HAJDU-CHENEY SYNDROME, PROTEUS SYNDROME, SOMATIC

STAT1, SPRY2, CALR, C3, IFNG, CREBBP, HFE, SALL1, HLA-B, TF, JAK2, RBPJ, TGFB1, AKT1, NOTCH2, FADD

BARAITSER-WINTER SYNDROME 1, BASAL CELL NEVUS SYNDROME, WOLFF-PARKINSON-WHITE SYNDROME, STAR SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 4, GAUCHER DISEASE, PERINATAL LETHAL, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, ADAMS-OLIVER SYNDROME 6, WOLFRAM SYNDROME, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, DONNAI-BARROW SYNDROME, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, 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, LYMPHEDEMA, HEREDITARY, IA, NEUROFIBROMATOSIS-NOONAN SYNDROME, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, STICKLER SYNDROME, TYPE I, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, DANON DISEASE, DYSAUTONOMIA, FAMILIAL, HERMANSKY-PUDLAK SYNDROME 1, LEOPARD SYNDROME 3, MEDULLARY CYSTIC KIDNEY DISEASE 1, SUPRAVALVAR AORTIC STENOSIS, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, 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, DUANE-RADIAL RAY SYNDROME, NEUROFIBROMATOSIS, TYPE 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MYXOMA, INTRACARDIAC, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, RENAL TUBULAR DYSGENESIS, WARSAW BREAKAGE SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, GAUCHER DISEASE, TYPE IIIC, SADDAN, CARDIOMYOPATHY, HYPERTROPHIC, 3, ATRIAL SEPTAL DEFECT 5, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, VLCAD DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, CARDIOMYOPATHY, DILATED, 1HH, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2}, ATRIAL STANDSTILL 2, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MOWAT-WILSON SYNDROME, FEINGOLD SYNDROME, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 8, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, EHLERS-DANLOS SYNDROME, TYPE 3, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, ATRIAL SEPTAL DEFECT 9, FRONTOMETAPHYSEAL DYSPLASIA, ATRANSFERRINEMIA, LOEYS-DIETZ SYNDROME 3, FRANK-TER HAAR SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, DENYS-DRASH SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, BETHLEM MYOPATHY 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, GALACTOSIALIDOSIS, COCKAYNE SYNDROME, TYPE B, MYOPATHY, DISTAL, TATEYAMA TYPE, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, COFFIN-LOWRY SYNDROME, GAUCHER DISEASE, TYPE I, PULMONARY HYPERTENSION, PRIMARY, 3, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, PALLISTER-HALL SYNDROME, CORNELIA DE LANGE SYNDROME 3, KLEEFSTRA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OCULOECTODERMAL SYNDROME, NOONAN SYNDROME 9, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, CARDIOMYOPATHY, DILATED, 1II, LIPOPROTEIN LIPASE DEFICIENCY, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, 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}, ALAGILLE SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ATRIAL SEPTAL DEFECT 2, RESTRICTIVE DERMOPATHY, LETHAL, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), MUSCULAR DYSTROPHY, CONGENITAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, COWDEN SYNDROME 7, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, {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, BECKER MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, VENTRICULAR SEPTAL DEFECT 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CORNELIA DE LANGE SYNDROME 1, HYPERTHYROIDISM, NONAUTOIMMUNE, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, MALOUF SYNDROME, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, BECKWITH-WIEDEMANN SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, CARDIOMYOPATHY, DILATED, 1A, ROBINOW SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 1, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYOPATHY, MYOFIBRILLAR, 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, TRANSALDOLASE DEFICIENCY, PHYTANIC ACID STORAGE DISEASE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, KARTAGENER 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}, NOONAN SYNDROME 7, ESTROGEN RESISTANCE, CUTIS LAXA, AD, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, AORTIC ANEURYSM, FAMILIAL THORACIC 7, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, HEART-HAND SYNDROME, SLOVENIAN TYPE, MYHRE SYNDROME, HETEROTOPIA, PERIVENTRICULAR, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CHOPS SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 6, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, CARDIOMYOPATHY, DILATED, 1V, DIAMOND-BLACKFAN ANEMIA 1, CARDIOMYOPATHY, DILATED, 1U, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, DLL4, CAV1, FGFR1, APOB, TAB2, COL1A1, MAP2K2, SALL1, PRKACA, ACTB, GNAS, CENPF, PSEN1, SMARCA4, MUC1, F2, AGT, PPARG, AGTR1, PRKAR1A, PHYH, EDN1, POLR1A, RYR2, KMT2A, COL6A1, WT1, TERT, ERCC6, GATA4, TGFBR1, BAG3, FAM58A, DES, PIK3CA, WNK1, EFEMP2, JAG1, TNXB, ACTC1, SMAD4, CREBBP, IKBKAP, PRKAG2, COL2A1, RBPJ, PTEN, ACTA1, ACE, RASA1, TPM1, TGFB2, FGFR3, KRAS, ERBB3, ELN, NPPA, WFS1, GPC3, ACTN4, IGF2, NOS3, MYCN, GDNF, MTOR, EDNRA, NR2F2, LMNA, COL1A2, CPOX, AFF4, ABCA1, JAK2, CALR, CBL, DDX11, GNAI2, NR1I3, IFNG, STAT1, TALDO1, CRYAB, MIB1, TGFB3, PRKG1, ROR2, TF, MAX, SPRY2, TSHR, ACADVL, RPS6KA3, TP63, ADCY5, ADD1, NOTCH1, LAMP2, SMC3, CTSA, DMD, SOS2, PTCH1, CAV3, TTR, RET, GJA1, SHOC2, HSD17B10, DVL3, F13A1, FLT4, MEF2A, GHR, MYLK, PSEN2, FLNA, PCK1, VHL, BMP2, FKBP14, BRCA1, C3, FN1, AKAP9, SOX2, WNT5A, DDX58, TAF2, LRP2, RAF1, HNRNPK, GLI3, AKT1, SNCA, CDKN1C, TTN, RPS19, NF1, ECHS1, GSN, BRAF, CFTR, ZEB2, MYH6, GDF2, NRAS, CCNO, SMAD3, NOS2, CD46, ACTG1, PEX2, PIK3R2, NOS1AP, NTRK1, PRKCSH, CENPE, LPL, GATA6, DTNBP1, MYH9, TGFB1, PKD1, TSC1, MT-CO2, GATA5, PTPN11, PLG, SOS1, LDLR, PACS1, SEC23B, LRP5, GBA, SALL4, THRA, PDGFRA, STRADA, APP, CTCF, LRP6, HRAS, EGFR, ACTN2, SELE, ADAM17, EPOR, MYH11, SH3PXD2B, NR3C1, ESR1, TGFBR2, FLNB, ATIC

ATRIOVENTRICULAR SEPTAL DEFECT 3, PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, CORNELIA DE LANGE SYNDROME 3, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OCULODENTODIGITAL DYSPLASIA, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, THROMBOCYTHEMIA 3, HYPOPLASTIC LEFT HEART SYNDROME 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, HAJDU-CHENEY SYNDROME, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COFFIN-SIRIS SYNDROME 4, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, COMPLEMENT FACTOR I DEFICIENCY, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, ATRANSFERRINEMIA, ADAMS-OLIVER SYNDROME 3, LONG QT SYNDROME 14, 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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3}, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, TUBEROUS SCLEROSIS 2, DUANE-RADIAL RAY SYNDROME, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, ALAGILLE SYNDROME 2, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, APP, SMARCA4, HNRNPK, SMAD4, CREBBP, SMC3, TGFB1, MEF2A, MECP2, STAT1, GJA1, EDNRA, HLA-B, PTPN11, AKT1, JAK2, CFI, IFNG, SALL4, TRPM4, TF, C3, RBPJ, EGFR, SPRY2, SELE, CALR, PTEN, NOTCH2, ESR1, HFE, FADD

LOEYS-DIETZ SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, AYME-GRIPP SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, HYPOPLASTIC LEFT HEART SYNDROME 1, OCULODENTODIGITAL DYSPLASIA, HAJDU-CHENEY SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOGENESIS IMPERFECTA, TYPE II, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, GELEOPHYSIC DYSPLASIA 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BARAITSER-WINTER SYNDROME 1, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, WEILL-MARCHESANI SYNDROME 2, DOMINANT, PULMONARY VENOOCCLUSIVE DISEASE 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PRIMARY PULMONARY HYPERTENSION, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, STICKLER SYNDROME, TYPE I, LONG QT SYNDROME 14, MYHRE SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, MARFAN LIPODYSTROPHY SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, LOEYS-DIETZ SYNDROME 2, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ALAGILLE SYNDROME 2, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, RENAL TUBULAR DYSGENESIS, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC