CARDIOVASCULAR

ATRIOVENTRICULAR SEPTAL DEFECT 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OCULODENTODIGITAL DYSPLASIA, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, AURICULOCONDYLAR SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, LONG QT SYNDROME 14, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, 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, HYPOPLASTIC LEFT HEART SYNDROME 1, TANGIER DISEASE, SUPRAVALVAR AORTIC STENOSIS, VENTRICULAR TACHYCARDIA, IDIOPATHIC, APERT SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, MYXOMA, INTRACARDIAC, MYOPATHY, DISTAL, TATEYAMA TYPE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SADDAN, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, PROTEUS SYNDROME, SOMATIC

CALM1, CAV3, FGFR3, GJA1, APOA1, GNAS, FGFR1, PRKACA, PRKAR1A, AKT1, SOS1, FGFR2, CFTR, PDE3A, EDN1, HRAS, EGFR, SPRY2, FGF23, ESR1, ADCY5, GNAI2

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PARKINSON DISEASE 4, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, WOLFF-PARKINSON-WHITE SYNDROME, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, CARDIOMYOPATHY, HYPERTROPHIC 6, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LEBER OPTIC ATROPHY, TUBEROUS SCLEROSIS-1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, HAY-WELLS SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PROTEUS SYNDROME, SOMATIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, COFFIN-SIRIS SYNDROME 3, SMITH-KINGSMORE SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1

TSC2, F2, SMARCB1, SCO2, MTOR, TSC1, MT-CO2, SCO1, AKT3, AKT1, PRKAG2, COX6B1, TACO1, COX8A, MT-CO3, COX20, SNCA, MT-CYB, COX7B, COX14, TP63, PTEN, MT-CO1

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AORTIC ANEURYSM, FAMILIAL THORACIC 9, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, OSTEOGENESIS IMPERFECTA, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AORTIC VALVE DISEASE 1, EHLERS-DANLOS SYNDROME, TYPE 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, DENTAL ANOMALIES AND SHORT STATURE, CUTIS LAXA, AD, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, SUPRAVALVAR AORTIC STENOSIS, MARFAN LIPODYSTROPHY SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALAGILLE SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, LOEYS-DIETZ SYNDROME 2, MALFORMATION OF THE HEART, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, GELEOPHYSIC DYSPLASIA 2, LOEYS-DIETZ SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, WEILL-MARCHESANI SYNDROME 3, RECESSIVE

TGFB2, FBLN5, ELN, LTBP3, TGFB1, NOTCH1, TGFB3, BMP2, LTBP2, COL1A2, FN1, EGFR, FBN1, COL1A1, TGFBR1, FBN2, MFAP5, LTBP4, CDKN1C, JAG1, TGFBR2, SMAD4, EFEMP2

LOEYS-DIETZ SYNDROME 1, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, LIPOPROTEIN LIPASE DEFICIENCY, AORTIC ANEURYSM, FAMILIAL THORACIC 6, CARDIOMYOPATHY, DILATED, 1NN, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OCULODENTODIGITAL DYSPLASIA, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, OMODYSPLASIA 1, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ESSENTIAL HYPERTENSION, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, GLUCOCORTICOID RESISTANCE, BARAITSER-WINTER SYNDROME 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, BARAITSER-WINTER SYNDROME 2, NOONAN SYNDROME 7, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, 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}, 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, LEOPARD SYNDROME 3, HYPOPLASTIC LEFT HEART SYNDROME 1, TANGIER DISEASE, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LOEYS-DIETZ SYNDROME 2, ATRIAL FIBRILLATION, FAMILIAL, 6, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, RUBINSTEIN-TAYBI SYNDROME, CARDIOMYOPATHY, DILATED, 1U, RENAL TUBULAR DYSGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 8, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

CALM1, TTR, GPC3, APOA2, APP, APOB, APOA1, NPPA, ACTG1, CREBBP, ACTB, RBP4, GNAS, TGFB1, PSEN1, LPL, STAT1, CAV1, AGT, GJA1, BMP2, AKT1, GPC6, RYR2, LDLR, LRP2, CLASP1, TGFBR1, PRKG1, SOS1, SNCA, EGFR, STRA6, ACTA2, RAF1, HTRA1, NR3C1, BRAF, TGFBR2

BARAITSER-WINTER SYNDROME 1, LOEYS-DIETZ SYNDROME 5, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, POLYCYTHEMIA VERA, SOMATIC, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, THROMBOCYTHEMIA 3, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CARDIAC VALVULAR DYSPLASIA, X-LINKED, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, ATRANSFERRINEMIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOPATHY, DISTAL, 4, DENYS-DRASH SYNDROME, LONG QT SYNDROME 14, DANON DISEASE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, 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, TANGIER DISEASE, AMYLOIDOSIS, FINNISH TYPE, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, TUBEROUS SCLEROSIS 2, GALACTOSIALIDOSIS, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, HETEROTOPIA, PERIVENTRICULAR, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, CALR, TGFB2, APP, LAMP2, PROS1, ERBB3, NOS2, F5, FLNC, IGF2, TGFB1, NOS3, STAT1, TGFB3, F2, AGT, LDLR, CTSA, PLG, AKT1, SOX2, ACTN4, APOA1, JAK2, WT1, TF, ACTN2, CTCF, FN1, EGFR, TTN, IFNG, ACTB, FLNA, F13A1, GSN

NON-IMMUNE HYDROPS FETALIS, AORTIC ANEURYSM, FAMILIAL THORACIC 6, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 11, CARDIOMYOPATHY, HYPERTROPHIC, 25, AORTIC ANEURYSM, FAMILIAL THORACIC 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ATRIAL SEPTAL DEFECT 5, CARDIOMYOPATHY, DILATED, 3B, DILATED CARDIOMYOPATHY 1DD, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, DUCHENNE MUSCULAR DYSTROPHY, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, LYMPHEDEMA, HEREDITARY, IA, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARDIOMYOPATHY, HYPERTROPHIC, 2, ?CARDIOMYOPATHY, DILATED, 2A, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NOONAN SYNDROME 4, LONG QT SYNDROME 14, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, AORTIC ANEURYSM, FAMILIAL THORACIC 7, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, CARDIOMYOPATHY, HYPERTROPHIC, 4, MYOPATHY, MYOFIBRILLAR, 1, BECKER MUSCULAR DYSTROPHY, SUPRAVALVAR AORTIC STENOSIS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, MALFORMATION OF THE HEART, MYOPATHY, DISTAL, TATEYAMA TYPE, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, CARDIOMYOPATHY, HYPERTROPHIC, 7, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, CARDIOMYOPATHY, DILATED, 1A, CARDIOMYOPATHY, HYPERTROPHIC, 3, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT

ACTA1, CALM1, CAV3, ACTC1, TPM1, FLT4, MYBPC3, TPM2, TPM3, TNNI3, SOS1, MYLK, EGFR, DES, ACTN2, HRAS, MYL3, TTN, ACTA2, TNNT2, TCAP, MYH11, NEB, MYH6, DMD

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PARKINSON DISEASE 4, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PARAGANGLIOMAS 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PELGER-HUET ANOMALY, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, ATRIAL SEPTAL DEFECT 5, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, ESSENTIAL HYPERTENSION, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE IIC, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, D-2-HYDROXYGLUTARIC ACIDURIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, MYHRE SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, CARDIOMYOPATHY, HYPERTROPHIC, 11, ADAMS-OLIVER SYNDROME 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ESTROGEN RESISTANCE, LEBER OPTIC ATROPHY, PARAGANGLIOMAS 4, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, COFFIN-LOWRY SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 3, SMITH-LEMLI-OPITZ SYNDROME, PROTEUS SYNDROME, SOMATIC

NDUFS3, TPM1, NDUFA11, NDUFB3, NDUFAF3, NDUFAF6, DHCR7, SMAD4, MT-ND6, MT-ND4, LBR, SDHA, NOS3, NDUFAF2, NDUFA1, MT-ND4L, NDUFS7, PPARG, D2HGDH, MT-CO2, SDHB, SCO1, SNCA, NDUFS4, NDUFV2, NDUFB9, SDHD, COX20, NDUFS1, NDUFAF4, NDUFV1, COX6B1, ATP5A1, SDHC, MT-ND1, TACO1, MT-ATP6, NDUFS2, MT-CO3, MT-ND5, AKT1, WNK1, MT-CYB, NDUFS6, HSPA9, NDUFAF5, RBPJ, DLD, COX8A, ACTC1, NDUFB11, COX14, RPS6KA3, ESR1, ATIC, MT-ND2, MT-ND3, COX7B, MT-CO1, SCO2

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

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

ADAMS-OLIVER SYNDROME 5, COMBINED HYPERLIPIDEMIA, FAMILIAL, LIPOPROTEIN LIPASE DEFICIENCY, SITOSTEROLEMIA, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NOONAN SYNDROME 4, EHLERS-DANLOS SYNDROME, TYPE 3, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AORTIC VALVE DISEASE 1, DONNAI-BARROW SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, {METABOLIC SYNDROME, PROTECTION AGAINST}, GLUCOCORTICOID RESISTANCE, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, AMYLOIDOSIS, FINNISH TYPE, POLYCYSTIC LIVER DISEASE, MALFORMATION OF THE HEART, PULMONARY HYPERTENSION, PRIMARY, 3, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

PLIN1, CAV1, APOB, APOA1, MTTP, ABCG5, NOTCH1, LPL, APOA2, TGFB1, MTOR, PPARG, PRKACA, AKT1, ABCA1, BMP1, SOS1, LRP5, LDLR, LRP2, PNPLA2, APP, ABCG8, FN1, EGFR, NR3C1, GSN, STAMBP

NON-IMMUNE HYDROPS FETALIS, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, OMODYSPLASIA 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ESSENTIAL HYPERTENSION, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS IS, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MUCOPOLYSACCHARIDOSIS IH/S, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, PROTEUS SYNDROME, SOMATIC

SGSH, EGFR, GLB1, NAGLU, B3GALT6, TAF6, B3GAT3, EXT2, CAV1, IDUA, HGSNAT, NEU1, GPC3, AKT1, GUSB, IDS, GPC6, NOS3

BARAITSER-WINTER SYNDROME 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, CARDIOFACIOCUTANEOUS SYNDROME, ESSENTIAL HYPERTENSION, OCULOECTODERMAL SYNDROME, NOONAN SYNDROME 7, CARDIOMYOPATHY, DILATED, 1NN, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, PARKINSON DISEASE 4, LEOPARD SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, AMYLOIDOSIS, FINNISH TYPE, SUPRAVALVAR AORTIC STENOSIS, PROTEUS SYNDROME, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, BARAITSER-WINTER SYNDROME 2, RENAL TUBULAR DYSGENESIS

NRAS, KRAS, ACTB, F2, AGT, RAF1, FGFR1, MAP2K2, GSN, ACTG1, SNCA, BRAF, SOS1, AKT1, FN1, HRAS

AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS 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}, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, DIAMOND-BLACKFAN ANEMIA 6, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}

RPL5, SPRY2, APOB, STAT1, HLA-B, CALR, PSMB8

BARAITSER-WINTER SYNDROME 1, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 12, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, 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, CARDIOFACIOCUTANEOUS SYNDROME, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, HERMANSKY-PUDLAK SYNDROME 1, LEOPARD SYNDROME 3, MEDULLARY CYSTIC KIDNEY DISEASE 1, SUPRAVALVAR AORTIC STENOSIS, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SADDAN, JOHANSON-BLIZZARD SYNDROME, 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, CARDIOMYOPATHY, DILATED, 1NN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, FEINGOLD SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 6, LOEYS-DIETZ SYNDROME 3, NAXOS DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, ATRANSFERRINEMIA, NOONAN SYNDROME 9, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, AMYLOIDOSIS, FINNISH TYPE, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, GALACTOSIALIDOSIS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, 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, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EVEN-PLUS SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, OCULOECTODERMAL SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, DUCHENNE MUSCULAR DYSTROPHY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, 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, BECKER MUSCULAR DYSTROPHY, PULMONARY VENOOCCLUSIVE DISEASE 1, KEUTEL SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, OPITZ GBBB SYNDROME, TYPE I, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, NEUROFIBROMATOSIS, TYPE 1, HYPOPLASTIC LEFT HEART SYNDROME 1, LOEYS-DIETZ SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?ATRIAL FIBRILLATION 15, LIPOPROTEIN LIPASE DEFICIENCY, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, CLOVE SYNDROME, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HAY-WELLS SYNDROME, HETEROTOPIA, PERIVENTRICULAR, WATSON SYNDROME, NOONAN SYNDROME 7, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, MYHRE SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 6, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, CAV1, FGFR1, WNT5A, COL1A1, ACTB, CUL3, CTSA, MUC1, F2, AGT, PPARG, EDN1, PIK3CA, SOS1, TGFBR2, CREBBP, RBPJ, SF3B4, NF1, ACTA1, ACE, RASA1, KL, ERBB3, MAP2K2, NPPA, NME1, ATP1B1, NOS3, MYCN, MTOR, EDNRA, MID1, NR2F2, PSEN1, KRAS, IFNG, CALR, CBL, PSMB8, JAK2, RPL5, JUP, AAAS, MIB1, TF, SPRY2, FANCA, FGF23, RPS6KA3, TP63, DTNBP1, BRAF, DMD, BMPR2, GATA1, TAB2, TTR, ADAM17, GJA1, SHOC2, SMAD4, DVL3, GHR, STAT1, GMPPB, FOXF1, PCK1, VHL, NUP155, HES7, FN1, AKAP9, SMARCA4, AIP, FOXC2, DDX58, NOS2, AKT1, SNCA, HSPA9, RAF1, FGFR3, GSN, NRAS, FLNA, HNRNPK, ACTG1, PIK3R2, NTRK1, IGF2, PTPN11, LPL, UBR1, CFTR, TGFB1, PRKACA, GATA5, HLA-B, NOTCH1, FADD, FGFR2, ACTN4, THRA, PDGFRA, APP, CTLA4, HRAS, EGFR, ACTN2, SELE, MGP, EPOR, SMAD3, ESR1, SOS2, FLNB

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, CARDIOMYOPATHY, DILATED, 1JJ, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, WERNER SYNDROME, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, STICKLER SYNDROME, TYPE I, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, {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, ATRIAL SEPTAL DEFECT 6, SUPRAVALVAR AORTIC STENOSIS, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LOEYS-DIETZ SYNDROME 2, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RENAL TUBULAR DYSGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, ADAMS-OLIVER SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, AORTIC ANEURYSM, FAMILIAL THORACIC 9, FEINGOLD SYNDROME, ESSENTIAL HYPERTENSION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, FRONTOMETAPHYSEAL DYSPLASIA, ATRANSFERRINEMIA, LOEYS-DIETZ SYNDROME 3, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, PRIMARY PULMONARY HYPERTENSION, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, PITT-HOPKINS-LIKE SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, AMYLOIDOSIS, FINNISH TYPE, FIBROCHONDROGENESIS 1, BETHLEM MYOPATHY 1, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, 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, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, OSTEOGENESIS IMPERFECTA, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, ALAGILLE SYNDROME, DENTAL ANOMALIES AND SHORT STATURE, CLOVE SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, 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, BECKER MUSCULAR DYSTROPHY, OSTEOGENESIS IMPERFECTA, TYPE VII, PULMONARY VENOOCCLUSIVE DISEASE 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HEMOCHROMATOSIS TYPE 1, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, BECKWITH-WIEDEMANN SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ALPORT SYNDROME, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, LOEYS-DIETZ SYNDROME 5, ROBINOW SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ERYTHROCYTOSIS, FAMILIAL, 2, GELEOPHYSIC DYSPLASIA 2, CARDIOMYOPATHY, DILATED, 1II, HETEROTOPIA, PERIVENTRICULAR, MYHRE SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, EHLERS-DANLOS SYNDROME, TYPE VI, NOONAN SYNDROME 7, CUTIS LAXA, AD, CARDIOMYOPATHY, HYPERTROPHIC, 3, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, MARFAN LIPODYSTROPHY SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, APERT SYNDROME, CARDIOMYOPATHY, DILATED, 1V, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, LOEYS-DIETZ SYNDROME 4, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, LEOPARD SYNDROME 1, PROTEUS SYNDROME, SOMATIC

CALM1, F2, APP, APOB, COL1A1, TPM1, COL3A1, NRXN1, AGT, COL5A1, WNT5A, PLG, DST, COL4A5, PIK3CA, LTBP4, EFEMP2, JAG1, TGFBR2, LTBP3, COL2A1, TNXB, SOX9, RASA1, TGFB2, FBLN5, ELN, COL6A2, IGF2, SGCA, NOS3, MYCN, PLOD3, PSEN1, JAK2, PLOD1, IFNG, FBN2, TLL1, TGFBR1, PSEN2, BRAF, BMPR2, TTR, CALR, BMP1, SMAD4, COL4A4, DVL3, FLT4, TGFB3, DMD, VHL, COL4A1, BMP2, LTBP2, LAMA4, FN1, LRP2, FBN1, COL1A2, AKT1, SNCA, CDKN1C, PTEN, GSN, COL6A3, FLNA, MYH11, COL5A2, TGFB1, WRN, PTPN11, COL11A1, NOTCH1, COL6A1, FGFR2, COL4A3, CRTAP, CRYAB, FLNC, MFAP5, EGFR, ACTN2, TF, SMAD3, ADAM17, HFE

VERHEIJ SYNDROME, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, BARTTER SYNDROME, TYPE 2, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 2, PULMONARY VENOOCCLUSIVE DISEASE 1, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, MEDULLARY CYSTIC KIDNEY DISEASE 1, HEMOCHROMATOSIS TYPE 1, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, RENAL TUBULAR DYSGENESIS, GAUCHER DISEASE, TYPE IIIC, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATRIAL FIBRILLATION, FAMILIAL, 3, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, MEND SYNDROME, CARDIOMYOPATHY, DILATED, 3B, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, [BILIRUBIN, SERUM LEVEL OF, QTL1], AORTIC ANEURYSM, FAMILIAL THORACIC 8, MUCOPOLYSACCHARIDOSIS II, EHLERS-DANLOS SYNDROME, TYPE 3, ATRIAL SEPTAL DEFECT 9, ATRANSFERRINEMIA, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, FLOATING-HARBOR SYNDROME, LEBER OPTIC ATROPHY, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MUCOPOLYSACCHARIDOSIS TYPE IIID, VENTRICULAR SEPTAL DEFECT 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, HAY-WELLS SYNDROME, LONG QT SYNDROME 1, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, LYSYL HYDROXYLASE 3 DEFICIENCY, PARAGANGLIOMAS 3, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NESTOR-GUILLERMO PROGERIA SYNDROME, SKIN FRAGILITY-WOOLLY HAIR SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, LIPOPROTEIN LIPASE DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, MUCOPOLYSACCHARIDOSIS VII, CILIARY DYSKINESIA, PRIMARY, 6, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, VENTRICULAR TACHYCARDIA, IDIOPATHIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, TRIMETHYLAMINURIA, CARDIOMYOPATHY, DILATED, 1A, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, ?DYSTONIA 23, TYROSINEMIA, TYPE I, MALONYL-COA DECARBOXYLASE DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, MENKES DISEASE, PSEUDOHYPOALDOSTERONISM, TYPE IIC, CPT DEFICIENCY, HEPATIC, TYPE II, MARSHALL-SMITH SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, CARNEY COMPLEX, TYPE 1, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ?CARDIOMYOPATHY, DILATED, 2A, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, NOONAN SYNDROME 7, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, RENAL GLUCOSURIA, AORTIC ANEURYSM, FAMILIAL THORACIC 9, AORTIC ANEURYSM, FAMILIAL THORACIC 4, COCKAYNE SYNDROME, TYPE A, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, DONNAI-BARROW SYNDROME, MYOTONIC DYSTROPHY 1, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, NEUROFIBROMATOSIS-NOONAN SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, MUCOPOLYSACCHARIDOSIS IS, LEOPARD SYNDROME 3, PROPIONICACIDEMIA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PULMONARY HYPERTENSION, PRIMARY, 2, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA, SHPRINTZEN-GOLDBERG SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5, CARDIOMYOPATHY, DILATED, 1NN, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OMODYSPLASIA 1, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, CUTIS LAXA, AUTOSOMAL DOMINANT 3, CARDIOMYOPATHY, HYPERTROPHIC, 12, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, VENTRICULAR SEPTAL DEFECT 3, NOONAN SYNDROME 9, PRIMARY PULMONARY HYPERTENSION, OCCIPITAL HORN SYNDROME, COFFIN-SIRIS SYNDROME 3, LONG QT SYNDROME 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, MUCOPOLYSACCHARIDOSIS IH, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALFORMATION OF THE HEART, MALOUF SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 3, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, GAUCHER DISEASE, TYPE I, FANCONI ANEMIA, COMPLEMENTATION GROUP C, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, EVEN-PLUS SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, COMBINED HYPERLIPIDEMIA, FAMILIAL, MUSCULAR DYSTROPHY, CONGENITAL, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, DUCHENNE MUSCULAR DYSTROPHY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, BECKER MUSCULAR DYSTROPHY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, ALAGILLE SYNDROME, EPSTEIN SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, NEU-LAXOVA SYNDROME 1, APPARENT MINERALOCORTICOID EXCESS, CORNELIA DE LANGE SYNDROME 2, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, ?GLYCOGEN STORAGE DISEASE XV, ?PRUNE BELLY SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 11, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, ?HYDROXYKYNURENINURIA, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, GLYCOGEN STORAGE DISEASE 0, MUSCLE, HEART-HAND SYNDROME, SLOVENIAN TYPE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, MUCOPOLYSACCHARIDOSIS IVA, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ATRIAL FIBRILLATION, FAMILIAL, 6, CPT II DEFICIENCY, LETHAL NEONATAL, LEOPARD SYNDROME 1, LOEYS-DIETZ SYNDROME 4, BASAL CELL NEVUS SYNDROME, GLYCOGEN STORAGE DISEASE IV, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, {METABOLIC SYNDROME, PROTECTION AGAINST}, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, WERNER SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, GLUTAMINE DEFICIENCY, CONGENITAL, JOHANSON-BLIZZARD SYNDROME, OROTIC ACIDURIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC 6, SITOSTEROLEMIA, THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE), SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, ALPORT SYNDROME, AUTOSOMAL DOMINANT, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, BARTH SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, LOEYS-DIETZ SYNDROME 3, YUNIS-VARON SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 2, CALCIFICATION OF JOINTS AND ARTERIES, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, OSTEOGENESIS IMPERFECTA, TYPE I, JERVELL AND LANGE-NIELSEN SYNDROME 1, AL-RAQAD SYNDROME, POLYCYTHEMIA VERA, SOMATIC, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, BURN-MCKEOWN SYNDROME, ATRIAL SEPTAL DEFECT 5, OCULOECTODERMAL SYNDROME, DILATED CARDIOMYOPATHY WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, ETHYLMALONIC ENCEPHALOPATHY, COENZYME Q10 DEFICIENCY, PRIMARY, 5, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, TANGIER DISEASE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, POLYGLUCOSAN BODY DISEASE, ADULT FORM, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, CORNELIA DE LANGE SYNDROME 1, COENZYME Q10 DEFICIENCY, PRIMARY, 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, ?ATRIAL FIBRILLATION 15, COPROPORPHYRIA, HARDEROPORPHYRIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, SENGERS SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DILATED CARDIOMYOPATHY 1DD, CPT DEFICIENCY, HEPATIC, TYPE IA, PHYTANIC ACID STORAGE DISEASE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, NEUROFIBROMATOSIS, TYPE 1, D-2-HYDROXYGLUTARIC ACIDURIA, HYPEROXALURIA, PRIMARY, TYPE 1, WATSON SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, CUTIS LAXA, AD, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PARAGANGLIOMAS 4, APERT SYNDROME, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, WOLFF-PARKINSON-WHITE SYNDROME, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, GLUCOCORTICOID RESISTANCE, BARAITSER-WINTER SYNDROME 2, PELGER-HUET ANOMALY, TRANSALDOLASE DEFICIENCY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, STICKLER SYNDROME, TYPE I, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, DOPAMINE BETA-HYDROXYLASE DEFICIENCY, SUPRAVALVAR AORTIC STENOSIS, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, COENZYME Q10 DEFICIENCY, PRIMARY, 7, AURICULOCONDYLAR SYNDROME 3, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, CARDIOMYOPATHY, HYPERTROPHIC, 22, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4, CARDIOMYOPATHY, DILATED, 1KK, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SMITH-LEMLI-OPITZ SYNDROME, NOONAN SYNDROME 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ATRIAL FIBRILLATION, FAMILIAL, 7, VLCAD DEFICIENCY, MYXOMA, INTRACARDIAC, ATRIAL FIBRILLATION, FAMILIAL, 12, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, LUJAN-FRYNS SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, ALKAPTONURIA, GLYCOGEN STORAGE DISEASE IA, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, GALACTOSIALIDOSIS, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, CEREBROTENDINOUS XANTHOMATOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, SHORT QT SYNDROME 2, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, THROMBOCYTHEMIA 3, GM1-GANGLIOSIDOSIS, TYPE I, GLYCOGEN STORAGE DISEASE II, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CORNELIA DE LANGE SYNDROME 3, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 8, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE XIII, HYPOPLASTIC LEFT HEART SYNDROME 1, CHILD SYNDROME, HYPERTHYROIDISM, NONAUTOIMMUNE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, COENZYME Q10 DEFICIENCY, PRIMARY, 2, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MECKEL SYNDROME 4, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUCOPOLYSACCHARIDOSIS IH/S, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CODAS SYNDROME, CARDIOMYOPATHY, DILATED, 1II, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY, CARDIOMYOPATHY, HYPERTROPHIC, 7, SMITH-KINGSMORE SYNDROME

CALM1, TSC2, HBB, PLOD3, ACADS, LBR, GNAS, RPL5, GUSB, ENPP1, ETHE1, NSDHL, KCNH2, DST, AGK, G6PC, AGXT, WNK1, TGFBR2, ACTC1, CREBBP, HGD, PEX5, SOX2, APOA1, NDUFAF3, IDS, THRA, MRPL44, MTOR, TNNI3, MT-ND6, TAF6, CTSA, PYCR1, CBL, NR1I3, JAK2, GPC6, CYP4F22, AAAS, SGSH, MT-CYB, ABCD4, TNNT2, TP63, SMC3, MT-CO1, CAV3, BANF1, AGL, SERPINC1, SCO2, SMAD4, DVL3, CHST14, GDNF, CEP290, NDUFAF2, TPM2, SLC19A2, NDUFS7, CASQ2, DBH, MMACHC, COX15, HSPA9, RAF1, ECHS1, ADK, HMBS, LRP5, HNRNPK, PIK3R2, SRCAP, LPL, GATA4, DMPK, MT-CO2, D2HGDH, PTPN11, NDUFS4, TPK1, COL4A3, ZMPSTE24, CALR, MEF2A, LRP2, MYH9, DHCR24, COX7B, PNPLA2, NR3C1, SDHB, HADHB, HPGD, UGT1A1, MLYCD, APOB, CPT2, F5, CACNA1B, COL1A2, PCCB, PDSS1, REN, G6PC3, BAAT, HADH, NDUFB11, DES, MT-CO3, PCCA, GALNS, CYP11B1, DLD, GNAI2, FIG4, DCPS, DDC, NPPA, NME1, NOTCH1, CYP3A5, CBS, FGFR1, SP110, EARS2, CRYAB, ADAMTS10, GPX4, SOX9, PRKG1, FANCA, BRAF, SLC26A3, SOS2, TF, BMP1, MT-ATP6, SMAD9, CTCF, UBR1, ARL2BP, GMPPB, TAZ, BMP2, MFAP5, HSD11B2, SMC1A, KL, TXNL4A, NAGLU, MUT, ERBB3, COQ9, EGFR, ITPA, SNCA, NF1, NME8, MYH6, NDUFV1, ACTG1, PRKCSH, TGFB1, GATA6, STAT1, CACNA1C, SCO1, PLG, LDLR, NDUFB9, FCGR2B, ACTN4, CHST3, SLC5A2, PCSK9, EPOR, SMAD3, SLC25A20, ESR1, NDUFS2, C10orf2, ATIC, LMNA, F2, MED13L, TPM1, CYP27A1, HEXB, MUC1, CYP11B2, NDUFA1, AGT, MTHFR, ERCC8, KMT2A, SLC37A4, FBP1, FANCM, PIK3CA, JAG1, HADHA, COX8A, PRKAG2, COL2A1, RBPJ, NFIX, NUBPL, ACTA1, ACTB, SMARCA4, DSP, NDUFAF6, COQ4, GPC3, PSMB8, PGM1, NOS3, KCNJ1, SDHC, ABCA1, NDUFAF4, HGSNAT, CACNB2, TALDO1, GLIS3, DSE, ABCG8, MT-ND3, FKBP14, SPRY2, TSHR, RBP4, NKX2-1, COX14, RPS6KA3, STAMBP, PAM16, KCNA5, GLB1, HSD17B10, SDHD, SLC22A5, KCNMB1, VHL, PPOX, HIBCH, FN1, COQ2, ATP5A1, MT-ND1, TERT, PTEN, F13A1, MTTP, GSN, RYR2, FAH, GBE1, NDUFS3, SDHA, KCNQ1, SMARCB1, MYH7, NOS2, MT-ND4, PUF60, B3GAT3, MED25, ATP7A, ABCG5, SOS1, COX6B1, GBA, MYPN, ABCC9, CACNA1S, APP, MT-ND4L, HRAS, ACTN2, NDUFAF5, AGPAT2, PEX7, KIF1BP, CAV1, COL1A1, FMO3, NDUFA11, NT5E, GATA5, EBP, PPARG, AGTR1, PRKAR1A, PHYH, EDN1, COX10, NDUFB3, CLASP1, SUFU, NEU1, COQ7, IDUA, COX20, EMD, UMPS, MT-ND2, ACE, APOA2, KRAS, NKX2-5, WRN, CHKB, CPOX, LMNB1, PTGIS, RYR1, GYG1, LONP1, GNB3, IFNG, CSRP3, PDGFRA, TGFBR1, EPHX2, GNS, ACADVL, ADCY5, LRP6, PCK1, BMPR2, PLIN1, TTR, FLNC, GJA1, SHOC2, KYNU, TGFB2, DMD, NUP155, FBLN5, NDUFS1, MRPL3, BRCA1, CFTR, MED12, GYS1, SEC63, NDUFS6, SLC25A4, AKT1, ARSB, B3GALT6, CHRM3, GAA, HCCS, ALDH18A1, DHCR7, AHCY, EXT2, PRKACA, FXN, AKT3, NDUFV2, FGFR2, CPT1A, GLA, GLUL, FANCC, RTEL1, MT-ND5, TACO1, RET, PEX19, PNP, SELE, MYH11, PHGDH, ANK2, CACNA1D

BARAITSER-WINTER SYNDROME 1, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, LEOPARD SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, AURICULOCONDYLAR SYNDROME 3, NEUROFIBROMATOSIS, TYPE 1, MYXOMA, INTRACARDIAC, RENAL TUBULAR DYSGENESIS, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, EHLERS-DANLOS SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 6, LOEYS-DIETZ SYNDROME 3, NOONAN SYNDROME 9, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, AMYLOIDOSIS, FINNISH TYPE, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, DISTAL, TATEYAMA TYPE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, 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, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEFT VENTRICULAR NONCOMPACTION 7, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, DUCHENNE MUSCULAR DYSTROPHY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CLOVE SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, BECKER MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SINGLETON-MERTEN SYNDROME 2, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, NOONAN SYNDROME 7, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, MYHRE SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, ACE, RASA1, APP, F2, FGFR3, KL, IGF2, ERBB3, CAV3, HNRNPK, MAP2K2, SMAD4, PTEN, ACTG1, PRKACA, ACTB, CLASP1, ACTN4, PIK3R2, AKT1, TGFB1, CUL3, PTPN11, RPS6KA3, RPL5, FGFR2, NOS2, CFTR, AGT, NTRK1, DMD, SNCA, FGFR1, ANK2, NOS3, HES7, PRKAR1A, NOTCH1, AKT3, EDN1, SHOC2, AKAP9, KRAS, SOS1, ESR1, TSC2, PSMB8, FGF23, DDX58, CBL, APOA1, JAK2, GJA1, STAT1, PDE3A, NRAS, GNAS, RAF1, PDGFRA, MIB1, ACTN2, PIK3CA, CTLA4, FN1, HRAS, SLC25A4, EGFR, SPRY2, SELE, NF1, SMAD3, NR3C1, GSN, BRAF, TSC1, ADCY5, GNAI2, DYNC2H1, SF3B4, MTOR, SOS2

BARAITSER-WINTER SYNDROME 1, COMBINED HYPERLIPIDEMIA, FAMILIAL, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, CARDIOMYOPATHY, HYPERTROPHIC 6, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, CARNEY COMPLEX, TYPE 1, VLCAD DEFICIENCY, KLEEFSTRA SYNDROME, POLYCYSTIC LIVER DISEASE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, WOLFF-PARKINSON-WHITE SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ATRIAL STANDSTILL 2, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, CPT DEFICIENCY, HEPATIC, TYPE IA, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CPT DEFICIENCY, HEPATIC, TYPE II, RENAL TUBULAR DYSGENESIS, TRIFUNCTIONAL PROTEIN DEFICIENCY, HYPOPLASTIC LEFT HEART SYNDROME 2, CPT II DEFICIENCY, LETHAL NEONATAL, LONG QT SYNDROME 15, COFFIN-SIRIS SYNDROME 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, GLUCOCORTICOID RESISTANCE, MYHRE SYNDROME, TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), VENTRICULAR SEPTAL DEFECT 3, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, MYOPATHY, DISTAL, 4, LONG QT SYNDROME 14, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, OROTIC ACIDURIA, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, COFFIN-SIRIS SYNDROME 3, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, AURICULOCONDYLAR SYNDROME 3, TANGIER DISEASE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, SUPRAVALVAR AORTIC STENOSIS, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, ESSENTIAL HYPERTENSION, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PROPIONICACIDEMIA, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, ATRIAL FIBRILLATION, FAMILIAL, 6, MYXOMA, INTRACARDIAC, MYOPATHY, DISTAL, TATEYAMA TYPE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, RUBINSTEIN-TAYBI SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, LUJAN-FRYNS SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, PROTEUS SYNDROME, SOMATIC

CALM1, ACE, EDN1, APP, APOA2, REN, APOA1, CAV3, HCCS, NKX2-5, ACADS, NR3C1, NME1, FLNC, MED25, LPL, AGPAT2, STAT1, SMARCB1, HADH, AGT, HADHB, PPARG, UMPS, PRKACA, PRKAR1A, NOS3, PCCA, HADHA, APOB, ESR1, CREBBP, PRKAG2, NR1I3, MUT, SLC25A20, MED12, SEC63, THRA, PCSK9, NOS2, SMARCA4, ACTB, PEX19, AKT1, HRAS, ABCA1, PEX5, ECHS1, SMAD4, ACADVL, CPT1A, CPT2, CFTR, NPPA, RBPJ, MED13L, PCCB, ATIC

{SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC

HLA-B, CALR

LOEYS-DIETZ SYNDROME 1, LOEYS-DIETZ SYNDROME 2, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MYHRE SYNDROME, LOEYS-DIETZ SYNDROME 3

SMAD3, SMAD4, TGFB1, TGFBR2, TGFBR1

BARAITSER-WINTER SYNDROME 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BECKWITH-WIEDEMANN SYNDROME, NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS, OSTEOGENESIS IMPERFECTA, TYPE I, HETEROTAXY, VISCERAL, 5, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BARTTER SYNDROME, TYPE 2, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, ADAMS-OLIVER SYNDROME 6, DIAMOND-BLACKFAN ANEMIA 4, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, COCKAYNE SYNDROME, TYPE B, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, DONNAI-BARROW SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, ZIMMERMANN-LABAND SYNDROME 1, TRIMETHYLAMINURIA, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, MUCOPOLYSACCHARIDOSIS IS, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE IV, SICKLE CELL ANEMIA, SUPRAVALVAR AORTIC STENOSIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, NOONAN SYNDROME 4, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), PROPIONICACIDEMIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, NOONAN SYNDROME 9, ESTROGEN RESISTANCE, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, PULMONARY HYPERTENSION, PRIMARY, 2, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SADDAN, CEREBROTENDINOUS XANTHOMATOSIS, ATRIAL SEPTAL DEFECT 5, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, COMBINED HYPERLIPIDEMIA, FAMILIAL, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ATRIAL FIBRILLATION, FAMILIAL, 12, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, OMODYSPLASIA 1, LOEYS-DIETZ SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CUTIS LAXA, AUTOSOMAL DOMINANT 3, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, [BILIRUBIN, SERUM LEVEL OF, QTL1], PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, EHLERS-DANLOS SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 6, LOEYS-DIETZ SYNDROME 3, GLYCOGEN STORAGE DISEASE II, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, ATRIAL SEPTAL DEFECT 9, FRONTOMETAPHYSEAL DYSPLASIA, ATRANSFERRINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, MUCOPOLYSACCHARIDOSIS II, LONG QT SYNDROME 14, COFFIN-SIRIS SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, LEBER OPTIC ATROPHY, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), AMYLOIDOSIS, FINNISH TYPE, ?TETRA-AMELIA SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, KOOLEN-DE VRIES SYNDROME, ?DIAMOND-BLACKFAN ANEMIA 11, TUBEROUS SCLEROSIS 2, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, DIAMOND-BLACKFAN ANEMIA 10, GALACTOSIALIDOSIS, LONG QT SYNDROME 15, MYOPATHY, DISTAL, TATEYAMA TYPE, ROBINOW SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, COFFIN-LOWRY SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, KLEEFSTRA SYNDROME, TIMOTHY SYNDROME, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, THROMBOCYTHEMIA 3, NESTOR-GUILLERMO PROGERIA SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OCULOECTODERMAL SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, COFFIN-SIRIS SYNDROME 4, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, AURICULOCONDYLAR SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, NOONAN SYNDROME 10, ALAGILLE SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, MUCOPOLYSACCHARIDOSIS VII, GELEOPHYSIC DYSPLASIA 2, APERT SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ?DIAMOND-BLACKFAN ANEMIA 12, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MUCOPOLYSACCHARIDOSIS IH/S, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, TANGIER DISEASE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, MAY-HEGGLIN ANOMALY, ?CHARGE SYNDROME, CHARGE SYNDROME, VENTRICULAR TACHYCARDIA, IDIOPATHIC, VENTRICULAR SEPTAL DEFECT 1, EPSTEIN SYNDROME, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MALFORMATION OF THE HEART, OGDEN SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE IIB, CORNELIA DE LANGE SYNDROME 1, HYPERTHYROIDISM, NONAUTOIMMUNE, ATRIAL STANDSTILL 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, NEU-LAXOVA SYNDROME 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, CORNELIA DE LANGE SYNDROME 2, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 1, ?GLYCOGEN STORAGE DISEASE XV, PARKINSON DISEASE 4, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ?PRUNE BELLY SYNDROME, ?ATRIAL FIBRILLATION 15, LIPOPROTEIN LIPASE DEFICIENCY, CLOVE SYNDROME, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 11, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, POLYCYSTIC LIVER DISEASE, OCULODENTODIGITAL DYSPLASIA, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ERYTHROCYTOSIS, FAMILIAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LATERAL MENINGOCELE SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, HAY-WELLS SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, STICKLER SYNDROME, TYPE I, DIAMOND-BLACKFAN ANEMIA 1, MYHRE SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, CARDIOMYOPATHY, DILATED, 1U, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, CUTIS LAXA, AD, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, HEMOCHROMATOSIS TYPE 1, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 2, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, GLYCOGEN STORAGE DISEASE 0, MUSCLE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, MARFAN LIPODYSTROPHY SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AORTIC ANEURYSM, FAMILIAL THORACIC 9, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ATRIAL FIBRILLATION, FAMILIAL, 6, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, CODAS SYNDROME, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, DYSAUTONOMIA, FAMILIAL, HOLT-ORAM SYNDROME, CARDIOMYOPATHY, DILATED, 1V, HETEROTOPIA, PERIVENTRICULAR, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SMITH-KINGSMORE SYNDROME, LOEYS-DIETZ SYNDROME 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, MUCOPOLYSACCHARIDOSIS IVA, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, RPS26, HBB, APOB, UGT1A1, COL1A1, MAP2K2, NAA10, PRKACA, ACTB, BANF1, CYP27A1, KRAS, COL3A1, SMARCA4, CACNA1C, RPL5, CYP11B2, F2, GUSB, AGT, TP63, PCCB, PPARG, MGAT2, SDHA, MRPL44, SOX2, VMA21, HIBCH, GALNS, EDN1, KMT2A, IDUA, PIGC, NRAS, ALG1, ARSB, ERCC6, TGFBR1, RPL15, NEU1, PIK3CA, ACTN4, SOS1, WNK1, NOTCH3, CYP11B1, RPS19, JAG1, TGFBR2, ACTC1, SALL1, CREBBP, IKBKAP, GNAI2, RBPJ, SF3B4, DLL4, NUBPL, ACTA1, ACE, SDHD, CHD7, FGFR3, GPC6, ERBB3, ELN, EGFR, LZTR1, GPC3, LONP1, IGF2, IDS, GNAS, NOS3, FMO3, THRA, SMARCB1, KCNJ1, SMAD9, MTOR, FGFR1, CHRM3, TAF6, COL1A2, PGM1, GYG1, ABCA1, JAK2, CALR, CBL, PSMB8, COL2A1, NR1I3, PSEN1, ABCC9, IFNG, GNS, EFTUD2, VPS33B, CYP4F22, AAAS, NAGLU, MIB1, DSE, GMPPB, C3, RPS17, TF, MAX, MT-CYB, SPRY2, ATP6V1B2, TSHR, RBP4, SMC1A, FGF23, AVPR2, RPS6KA3, STAMBP, NOTCH1, RPL26, LRP6, CTSA, PMM2, SOS2, GATA1, FCGR2A, CAV3, TTR, SGSH, GLB1, AGL, GJA1, SHOC2, TGFB2, SMAD4, SNRPB, DVL3, CHST14, CBS, GYS1, PSEN2, LRP5, SOX9, VHL, NUP155, BMP2, HRAS, TBX5, FN1, KL, KANSL1, WNT5A, MRPL3, DDX58, MUT, APOA1, TAF2, SEC63, LRP2, ATP5A1, SLC25A4, PHGDH, FBN1, HNRNPK, ACTN2, WNK4, MMACHC, AKT1, SNCA, CDKN1C, FANCA, HSPA9, PTEN, XRCC4, NPPA, GSN, ACVRL1, AMER1, HGSNAT, CHST3, PIGA, FLNA, FZD6, GAA, NODAL, NDUFS1, NOS2, TAB2, ACTG1, NR3C1, DPM1, FLNC, FOXC2, PIK3R2, TGFB1, B3GAT3, CENPE, LPL, AHCY, GATA6, CFTR, MYH9, STAT1, ESR1, MT-CO2, GATA5, PTPN11, AKT3, SELE, PCCA, LDLR, FGFR2, PACS1, NDUFS3, RPL11, GATA4, PDGFRA, CLASP1, APP, CTCF, CTLA4, MFAP5, DOLK, STRA6, SARS2, ADAM17, EPOR, SMAD3, ALDH18A1, EXT2, NDUFS2, C10orf2, HFE, WNT3

TRIFUNCTIONAL PROTEIN DEFICIENCY, PROPIONICACIDEMIA, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, VLCAD DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, METHYLMALONIC ACIDURIA, MUT(0) TYPE, PROTEUS SYNDROME, SOMATIC

PCCB, HADH, MUT, HADHB, ECHS1, ACADVL, ACADS, PCCA, HADHA, AKT1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PARKINSON DISEASE 4, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PARAGANGLIOMAS 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PELGER-HUET ANOMALY, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, PSEUDOHYPOALDOSTERONISM, TYPE IIC, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, MYHRE SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, LEBER OPTIC ATROPHY, PARAGANGLIOMAS 4, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PROTEUS SYNDROME, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 3, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES

NDUFS3, TPM1, NDUFB3, NDUFAF3, NDUFAF6, NDUFA11, SMAD4, MT-ND6, MT-ND4, LBR, SDHA, NDUFAF2, NDUFA1, COX20, NDUFS7, MT-CO2, SCO1, SNCA, NDUFS4, NDUFV2, NDUFB9, SDHD, NDUFS1, NDUFAF4, COX6B1, ATP5A1, SDHC, MT-ND1, TACO1, MT-ATP6, NDUFS2, MT-CO3, MT-ND4L, AKT1, WNK1, MT-CYB, NDUFS6, HSPA9, NDUFAF5, ATIC, COX8A, MT-ND5, COX14, SDHB, NDUFB11, NDUFV1, MT-ND2, MT-ND3, COX7B, MT-CO1, SCO2

ATRIOVENTRICULAR SEPTAL DEFECT 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, NOONAN SYNDROME 4, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, CARNEY COMPLEX, TYPE 1, HYPERTENSION AND BRACHYDACTYLY SYNDROME, PROTEUS SYNDROME, SOMATIC, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, LONG QT SYNDROME 14, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, AURICULOCONDYLAR SYNDROME 3, VENTRICULAR TACHYCARDIA, IDIOPATHIC, APERT SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, MYXOMA, INTRACARDIAC, MYOPATHY, DISTAL, TATEYAMA TYPE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SADDAN, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOPLASTIC LEFT HEART SYNDROME 1

ACTA1, CALM1, EGFR, EDN1, CAV3, FGF23, CFTR, FGFR3, GJA1, FGFR1, FGFR2, PDE3A, ADCY5, PRKACA, GNAI2, PRKAR1A, SOS1, AKT1, GNAS

BARAITSER-WINTER SYNDROME 1, HETEROTAXY, VISCERAL, 5, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ADAMS-OLIVER SYNDROME 6, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, LYMPHEDEMA, HEREDITARY, IA, [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, CARDIOMYOPATHY, DILATED, 1II, 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, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, STICKLER SYNDROME, TYPE I, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, LEOPARD SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, MYOPATHY, DISTAL, TATEYAMA TYPE, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, MYXOMA, INTRACARDIAC, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, RENAL TUBULAR DYSGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, EHLERS-DANLOS SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 6, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, AMYLOIDOSIS, FINNISH TYPE, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HOLT-ORAM SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, 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, NOONAN SYNDROME 8, NON-IMMUNE HYDROPS FETALIS, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HETEROTOPIA, PERIVENTRICULAR, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, DUCHENNE MUSCULAR DYSTROPHY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, 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, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, NOONAN SYNDROME 9, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, NEUROFIBROMATOSIS, TYPE 1, HYPOPLASTIC LEFT HEART SYNDROME 1, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, AORTIC ANEURYSM, FAMILIAL THORACIC 6, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, PSEUDOHYPOALDOSTERONISM, TYPE IIC, ERYTHROCYTOSIS, FAMILIAL, 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, NOONAN SYNDROME 7, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, MYHRE SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CARDIOMYOPATHY, DILATED, 1V, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, F2, WNT5A, COL1A1, ACTB, CUL3, PSEN1, ANK2, RPL5, AGT, PRKAR1A, EDN1, NF1, CLASP1, TGFBR1, PIK3CA, FADD, WNK1, DLL4, COL2A1, DYNC2H1, SF3B4, PTEN, ACTA1, ACE, RASA1, KRAS, ERBB3, MAP2K2, NME1, IGF2, GNAS, NOS3, THRA, MTOR, FGFR1, NR2F2, JAK2, CALR, CBL, PSMB8, GNAI2, MYOM1, PDE3A, CRYAB, MIB1, SPRY2, ACTA2, FGF23, RPS6KA3, ADCY5, BRAF, SOS2, CAV3, FLNC, GJA1, SHOC2, SMAD4, FLT4, MEF2A, STAT1, PSEN2, DMD, VHL, HES7, TBX5, FN1, AKAP9, KL, MRPL3, DDX58, APOA1, SLC25A4, NOS2, AKT1, SNCA, RAF1, FGFR3, GSN, NRAS, FLNA, NODAL, HNRNPK, ACTG1, FOXC2, PIK3R2, NTRK1, PTPN11, CFTR, TGFB1, ESR1, PRKACA, NOTCH1, AKT3, SOS1, FGFR2, ACTN4, PDGFRA, APP, RET, RIT1, CTLA4, HRAS, EGFR, ACTN2, ADAM17, SMAD3, NR3C1, TSC1, FLNB

TRIFUNCTIONAL PROTEIN DEFICIENCY, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

HADHA, HADHB, ECHS1, HADH, ACADS

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AORTIC ANEURYSM, FAMILIAL THORACIC 9, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, BECKWITH-WIEDEMANN SYNDROME, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OSTEOGENESIS IMPERFECTA, TYPE II, ESSENTIAL HYPERTENSION, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AORTIC VALVE DISEASE 1, LYMPHEDEMA, HEREDITARY, IA, EHLERS-DANLOS SYNDROME, TYPE 3, MYHRE SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, ALAGILLE SYNDROME, DENTAL ANOMALIES AND SHORT STATURE, CUTIS LAXA, AD, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, SUPRAVALVAR AORTIC STENOSIS, MARFAN LIPODYSTROPHY SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, LOEYS-DIETZ SYNDROME 2, MALFORMATION OF THE HEART, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, GELEOPHYSIC DYSPLASIA 2, LOEYS-DIETZ SYNDROME 1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, WEILL-MARCHESANI SYNDROME 3, RECESSIVE

TGFB2, FBLN5, ELN, LTBP3, FLT4, TGFB1, NOTCH1, TGFB3, AGT, BMP2, LTBP2, COL1A2, FBN2, EGFR, FBN1, COL1A1, TGFBR1, FN1, MFAP5, LTBP4, CDKN1C, JAG1, TGFBR2, SMAD4, EFEMP2

BARAITSER-WINTER SYNDROME 1, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, LEOPARD SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, AURICULOCONDYLAR SYNDROME 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, NEUROFIBROMATOSIS, TYPE 1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RENAL TUBULAR DYSGENESIS, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, MYXOMA, INTRACARDIAC, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, EHLERS-DANLOS SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 6, NOONAN SYNDROME 9, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, AMYLOIDOSIS, FINNISH TYPE, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, DISTAL, TATEYAMA TYPE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, 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, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEFT VENTRICULAR NONCOMPACTION 7, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, DUCHENNE MUSCULAR DYSTROPHY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CLOVE SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, BECKER MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SINGLETON-MERTEN SYNDROME 2, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ERYTHROCYTOSIS, FAMILIAL, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, NOONAN SYNDROME 7, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, MYHRE SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, ACE, RASA1, APP, F2, FGFR3, KL, IGF2, ERBB3, CAV3, HNRNPK, MAP2K2, SMAD4, PTEN, ACTG1, ACTB, SHOC2, ACTN4, PIK3R2, AKT1, TGFB1, CUL3, NOTCH1, ANK2, RPL5, FGFR2, NOS2, CFTR, AGT, NTRK1, DMD, SNCA, VHL, ESR1, PRKACA, HES7, PRKAR1A, NOS3, AKT3, EDN1, AKAP9, GJA1, SOS1, RPS6KA3, TSC2, FGFR1, PSMB8, FGF23, DDX58, CBL, APOA1, JAK2, PDGFRA, NRAS, GNAS, RAF1, PDE3A, MIB1, ACTN2, PIK3CA, CTLA4, FN1, HRAS, SLC25A4, EGFR, SPRY2, KRAS, NF1, CLASP1, NR3C1, GSN, BRAF, TSC1, ADCY5, GNAI2, PTPN11, DYNC2H1, SF3B4, MTOR, SOS2

BARAITSER-WINTER SYNDROME 1, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, SUPRAVALVAR AORTIC STENOSIS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MELNICK-NEEDLES SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, LEOPARD SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, RENAL TUBULAR DYSGENESIS, COMBINED HYPERLIPIDEMIA, FAMILIAL, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ESSENTIAL HYPERTENSION, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, FRONTOMETAPHYSEAL DYSPLASIA, ATRANSFERRINEMIA, LOEYS-DIETZ SYNDROME 3, PRIMARY PULMONARY HYPERTENSION, DENYS-DRASH SYNDROME, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, AMYLOIDOSIS, FINNISH TYPE, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, TUBEROUS SCLEROSIS 2, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, GALACTOSIALIDOSIS, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CLOVE SYNDROME, SOMATIC, 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, VENTRICULAR TACHYCARDIA, IDIOPATHIC, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ATRIAL STANDSTILL 2, FRAGILE X SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LOEYS-DIETZ SYNDROME 5, ?PRUNE BELLY SYNDROME, LIPOPROTEIN LIPASE DEFICIENCY, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ERYTHROCYTOSIS, FAMILIAL, 2, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, DANON DISEASE, NOONAN SYNDROME 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MECKEL SYNDROME 4, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ATRIAL FIBRILLATION, FAMILIAL, 6, HETEROTOPIA, PERIVENTRICULAR, LOEYS-DIETZ SYNDROME 4, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, PDE4D, TTR, TF, TGFB2, APP, F13A1, SOX2, ERBB3, CALR, NOS2, PKD1, F5, LDLR, FLNC, ACTN4, PIK3R2, AKT1, TGFB1, IGF2, PTPN11, LPL, STAT1, TGFB3, GNB3, AGT, MTOR, SNCA, VHL, ESR1, PRKACA, NOS3, CTSA, FN1, ABCA1, PROS1, SOS1, CBL, F2, PLG, THPO, APOA1, FMR1, AKT3, WT1, GATA1, TGFBR1, CEP290, COL1A1, RET, ACTN2, PIK3CA, EDN1, HRAS, COL1A2, EGFR, TTN, KRAS, IFNG, ACTB, RAF1, SMAD3, NPPA, CREBBP, GSN, BRAF, CHRM3, FLNA, GNAI2, JAK2, LAMP2, CTCF, BMPR2

OSTEOGENESIS IMPERFECTA, TYPE I, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, OSTEOGENESIS IMPERFECTA, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE XIII, ALPORT SYNDROME, AUTOSOMAL DOMINANT, ATRIAL SEPTAL DEFECT 6, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, ALPORT SYNDROME

COL4A3, BMP1, COL4A4, BMP2, COL4A1, COL4A5, TLL1, COL1A1, COL1A2

ESSENTIAL HYPERTENSION, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TUBEROUS SCLEROSIS 2, LEOPARD 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}, ESTROGEN RESISTANCE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, DIAMOND-BLACKFAN ANEMIA 6, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, ATRANSFERRINEMIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, PROTEUS SYNDROME, SOMATIC

STAT1, PSMB8, TF, IFNG, RPL5, NOS2, ESR1, HLA-B, CALR, SPRY2, AKT1, APOB, PTPN11

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ROBINOW SYNDROME, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AORTIC ANEURYSM, FAMILIAL THORACIC 9, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, ERYTHROCYTOSIS, FAMILIAL, 2, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ESSENTIAL HYPERTENSION, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, CARDIAC VALVULAR DYSPLASIA, X-LINKED, HETEROTOPIA, PERIVENTRICULAR, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, CARDIOMYOPATHY, DILATED, 1U, FRONTOMETAPHYSEAL DYSPLASIA, ATRANSFERRINEMIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, RENAL TUBULAR DYSGENESIS, MYOPATHY, DISTAL, 4, CUTIS LAXA, AD, ADAMS-OLIVER SYNDROME 6, STICKLER SYNDROME, TYPE I, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, ATRIAL SEPTAL DEFECT 6, SUPRAVALVAR AORTIC STENOSIS, MARFAN LIPODYSTROPHY SYNDROME, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BETHLEM MYOPATHY 1, ALPORT SYNDROME, AUTOSOMAL DOMINANT, 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, LOEYS-DIETZ 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}, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, GELEOPHYSIC DYSPLASIA 2, CARDIOMYOPATHY, DILATED, 1V, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, WEILL-MARCHESANI SYNDROME 2, DOMINANT, 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

SOX9, TF, FLNA, APP, FBLN5, ELN, SMAD4, COL4A1, COL5A2, COL6A2, FLNC, COL1A1, AKT1, TGFB1, COL3A1, PSEN2, F2, COL6A1, COL11A1, VHL, COL5A1, BMP2, PSEN1, COL6A3, FBN2, BMP1, WNT5A, COL4A4, PLG, COL4A3, IFNG, LRP2, TLL1, PKD1, FBN1, ADAM17, COL1A2, FN1, MFAP5, EGFR, ACTN2, DLL4, SMAD3, AGT, COL2A1, NOTCH1, COL4A5, PTEN

BARAITSER-WINTER SYNDROME 1, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, LEOPARD SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, AURICULOCONDYLAR SYNDROME 3, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RENAL TUBULAR DYSGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, MYXOMA, INTRACARDIAC, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, EHLERS-DANLOS SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 6, NOONAN SYNDROME 9, FRANK-TER HAAR SYNDROME, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, AMYLOIDOSIS, FINNISH TYPE, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, DISTAL, TATEYAMA TYPE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, 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, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEFT VENTRICULAR NONCOMPACTION 7, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, DUCHENNE MUSCULAR DYSTROPHY, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, ALAGILLE SYNDROME, 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, VENTRICULAR TACHYCARDIA, IDIOPATHIC, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, SINGLETON-MERTEN SYNDROME 2, CLOVE SYNDROME, SOMATIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, NOONAN SYNDROME 7, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, MYHRE SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, F2, ACTB, CUL3, RPL5, AGT, PRKAR1A, EDN1, NF1, CLASP1, PIK3CA, JAG1, GNAI2, DYNC2H1, SF3B4, PTEN, ACTA1, ACE, RASA1, KRAS, ERBB3, MAP2K2, NME1, IGF2, GNAS, NOS3, MTOR, FGFR1, CBL, PSMB8, JAK2, PDE3A, MIB1, GDNF, SPRY2, FGF23, RPS6KA3, ADCY5, BRAF, SOS2, CAV3, CALR, GJA1, SHOC2, SMAD4, DMD, HES7, FN1, AKAP9, KL, CFTR, APOA1, SLC25A4, SH3PXD2B, HNRNPK, AKT1, SNCA, RAF1, FGFR3, GSN, TSC1, NRAS, NOS2, ACTG1, PIK3R2, NTRK1, PTPN11, DDX58, TGFB1, ANK2, PRKACA, NOTCH1, AKT3, SOS1, FGFR2, ACTN4, PDGFRA, APP, CTLA4, HRAS, EGFR, ACTN2, ADAM17, NR3C1, ESR1

OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, 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 1, THROMBOCYTHEMIA, SOMATIC, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ERYTHROCYTOSIS, FAMILIAL, 2, ESSENTIAL HYPERTENSION, OSTEOGENESIS IMPERFECTA, TYPE II, AORTIC VALVE DISEASE 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 1, CARDIOMYOPATHY, DILATED, 1JJ, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, RENAL TUBULAR DYSGENESIS, WERNER SYNDROME, CUTIS LAXA, AD, STICKLER SYNDROME, TYPE I, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SUPRAVALVAR AORTIC STENOSIS, BETHLEM MYOPATHY 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, LOEYS-DIETZ SYNDROME 4, EHLERS-DANLOS SYNDROME, TYPE IV, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, ALPORT SYNDROME

SOX9, APP, TGFB2, ELN, COL4A1, COL6A2, WRN, TGFB1, COL5A2, TGFB3, AGT, VHL, COL4A4, BMP2, NOS3, PLG, FN1, COL6A1, COL4A3, COL3A1, COL4A5, COL1A1, CALR, COL1A2, COL5A1, LAMA4, ACTN2, TNXB, COL2A1, COL6A3

ATRIOVENTRICULAR SEPTAL DEFECT 3, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, OCULODENTODIGITAL DYSPLASIA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, AURICULOCONDYLAR SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, LONG QT SYNDROME 14, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOPLASTIC LEFT HEART SYNDROME 1, TANGIER DISEASE, SUPRAVALVAR AORTIC STENOSIS, VENTRICULAR TACHYCARDIA, IDIOPATHIC, APERT SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, SINGLETON-MERTEN SYNDROME 2, MYXOMA, INTRACARDIAC, MYOPATHY, DISTAL, TATEYAMA TYPE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, RENAL TUBULAR DYSGENESIS, SADDAN, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, PROTEUS SYNDROME, SOMATIC

CALM1, CAV3, FGF23, GJA1, APOA1, GNAS, DDX58, AGT, FGFR1, PRKACA, PRKAR1A, AKT1, KL, SOS1, FGFR2, CFTR, PDE3A, EDN1, HRAS, EGFR, SPRY2, FGFR3, ADCY5, GNAI2

OSTEOGENESIS IMPERFECTA, TYPE I, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE II, AORTIC VALVE DISEASE 1, EHLERS-DANLOS SYNDROME, TYPE 3, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, STICKLER SYNDROME, TYPE I, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, BETHLEM MYOPATHY 1, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, EHLERS-DANLOS SYNDROME, TYPE IV, ALPORT SYNDROME, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1

COL3A1, COL1A2, COL4A4, RET, COL4A3, COL6A1, CACNA1D, CACNB2, COL2A1, CACNA1C, COL4A1, CACNA1S, COL4A5, COL6A2, COL6A3, GDNF, COL5A1, PTEN, COL5A2

LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ESSENTIAL HYPERTENSION, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, POLYCYTHEMIA VERA, SOMATIC, COFFIN-SIRIS SYNDROME 4, ESTROGEN RESISTANCE, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, LEOPARD SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 6, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, THROMBOCYTHEMIA 3, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, OPITZ GBBB SYNDROME, TYPE I, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, TUBEROUS SCLEROSIS 2

GATA1, STAT1, TTR, SPRY2, CBL, IFNG, RPL5, MID1, ESR1, HLA-B, SMARCA4, ACTN4, ATP1B1, NTRK1, JAK2, PTPN11, CALR

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, BASAL CELL NEVUS SYNDROME, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, LONG QT SYNDROME 12, HETEROTAXY, VISCERAL, 5, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, DIGEORGE SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AORTIC ANEURYSM, FAMILIAL THORACIC 4, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, ADAMS-OLIVER SYNDROME 6, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, LYMPHEDEMA, HEREDITARY, IA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, NEUROFIBROMATOSIS-NOONAN SYNDROME, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, STICKLER SYNDROME, TYPE I, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, HERMANSKY-PUDLAK SYNDROME 1, LEOPARD SYNDROME 3, ?DYSTONIA 23, SUPRAVALVAR AORTIC STENOSIS, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, STORMORKEN SYNDROME, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DUANE-RADIAL RAY SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 17, LONG QT SYNDROME-10, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PULMONARY HYPERTENSION, PRIMARY, 2, MYXOMA, INTRACARDIAC, CARDIOMYOPATHY, DILATED, 1E, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, CENTRONUCLEAR MYOPATHY 5, SADDAN, SMITH-LEMLI-OPITZ SYNDROME, ATRIAL SEPTAL DEFECT 5, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, CORNELIA DE LANGE SYNDROME 1, BRUGADA SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, PAROXYSMAL EXTREME PAIN DISORDER, ATRIAL FIBRILLATION, FAMILIAL, 7, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ALPORT SYNDROME, AUTOSOMAL DOMINANT, ATRIAL FIBRILLATION, FAMILIAL, 13, CARDIOMYOPATHY, DILATED, 1HH, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ATRIAL SEPTAL DEFECT 8, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ATRIAL FIBRILLATION, FAMILIAL, 14, FEINGOLD SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, RIGHT ATRIAL ISOMERISM, HEMOCHROMATOSIS, TYPE 2B, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, LOEYS-DIETZ SYNDROME 3, ATRIAL SEPTAL DEFECT 9, FRONTOMETAPHYSEAL DYSPLASIA, VELOCARDIOFACIAL SYNDROME, NOONAN SYNDROME 9, RENAL TUBULAR DYSGENESIS, ATRIOVENTRICULAR SEPTAL DEFECT 4, PRIMARY PULMONARY HYPERTENSION, ADAMS-OLIVER SYNDROME 3, SICK SINUS SYNDROME 1, HYPOPLASTIC LEFT HEART SYNDROME 2, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, EHLERS-DANLOS SYNDROME, TYPE IV, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, CORNELIA DE LANGE SYNDROME 2, AMYLOIDOSIS, FINNISH TYPE, BETHLEM MYOPATHY 1, VENTRICULAR SEPTAL DEFECT 1, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, DISTAL, TATEYAMA TYPE, ALPORT SYNDROME, BARAITSER-WINTER SYNDROME 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, BRUGADA SYNDROME 7, ATRIAL FIBRILLATION, FAMILIAL, 16, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, COFFIN-LOWRY SYNDROME, CARDIOMYOPATHY, DILATED, 1U, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PARKINSON DISEASE 4, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, PALLISTER-HALL SYNDROME, HETEROTOPIA, PERIVENTRICULAR, TIMOTHY SYNDROME, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, COMBINED HYPERLIPIDEMIA, FAMILIAL, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HEMOCHROMATOSIS, TYPE 2A, OCULOECTODERMAL SYNDROME, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, VENTRICULAR SEPTAL DEFECT 3, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, 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}, ATRIAL STANDSTILL, DIGENIC (GJA5/SCN5A), EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, ALAGILLE SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ATRIAL SEPTAL DEFECT 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, MYOTONIC DYSTROPHY 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, TANGIER DISEASE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, BECKER MUSCULAR DYSTROPHY, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, PULMONARY VENOOCCLUSIVE DISEASE 1, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, ALAGILLE SYNDROME 2, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, VACTERL ASSOCIATION, X-LINKED, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, TUBEROUS SCLEROSIS-1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, HYPOPLASTIC LEFT HEART SYNDROME 1, LOEYS-DIETZ SYNDROME 1, CLOVE SYNDROME, SOMATIC, LIPOPROTEIN LIPASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 6, CARDIOMYOPATHY, HYPERTROPHIC, 11, RENPENNING SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, TATTON-BROWN-RAHMAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, HETEROTAXY, VISCERAL, 2, AUTOSOMAL, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, VENTRICULAR SEPTAL DEFECT 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MAY-HEGGLIN ANOMALY, ERYTHROCYTOSIS, FAMILIAL, 2, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, GELEOPHYSIC DYSPLASIA 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, NEUROFIBROMATOSIS, TYPE 1, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, LUJAN-FRYNS SYNDROME, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, ATRIAL FIBRILLATION, FAMILIAL, 10, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, NOONAN SYNDROME 7, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, PSEUDOHYPOALDOSTERONISM, TYPE IIE, PANCREATIC AND CEREBELLAR AGENESIS, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, MYHRE SYNDROME, MARFAN LIPODYSTROPHY SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, LONG QT SYNDROME-3, ATRIAL FIBRILLATION, FAMILIAL, 6, TRANSPOSITION OF GREAT ARTERIES, DEXTRO-LOOPED 3, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, CARDIOMYOPATHY, DILATED, 1V, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, WEILL-MARCHESANI SYNDROME 2, DOMINANT, SMITH-KINGSMORE SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 8, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, KCNA5, PDE4D, DLL4, CAV1, PLOD3, POLR1A, MED13L, CNBP, ACTB, CUL3, CACNA1B, COL3A1, CACNA1C, EFTUD2, F2, AGT, PPARG, COL5A1, ASCC1, PRKAR1A, EDN1, PKD1, RYR2, KMT2A, PLG, SALL4, COL4A5, TGFBR1, PNPLA2, COL1A1, SMARCA4, PIK3CA, FLNC, NOTCH1, JAG1, EMD, TGFBR2, ACTC1, CREBBP, COL2A1, RBPJ, SF3B4, NF1, HTRA1, ACTA1, ACE, RASA1, APOA2, F13A1, KL, ERBB3, MAP2K2, NKX2-5, NME1, VHL, NOTCH2, IGF2, SEMA3E, NOS3, DNMT3A, MYCN, PTF1A, COL6A1, GDNF, SMAD9, RYR1, FGFR1, NR2F2, PSEN1, CITED2, CBL, PSMB8, GNB3, JAK2, CACNB2, GNAS, ZIC3, MIB1, PRKG1, GDF1, SPRY2, KRAS, RBP4, SMC1A, FGF23, SPEG, RPS6KA3, ADD1, LRP6, SCN2B, SNTA1, PAX8, PLIN1, PTCH1, CAV3, STIM1, RET, HFE2, GJA1, SHOC2, SMAD4, COL4A1, FLT4, CBS, CTCF, STAT1, PSEN2, SCN1B, NKX2-1, DMD, SOX9, PQBP1, BMP2, COL4A4, HES7, BRCA1, MTOR, FN1, AKAP9, SOX2, AIP, WNT5A, ANK2, MRPL3, DDX58, APOA1, MED12, EGFR, FBN1, RAF1, USP9X, HNRNPK, GLI3, TWIST1, AKT1, SNCA, SCN4B, PTEN, FGFR3, NPPA, HAMP, GSN, BRAF, TRIP4, COL6A3, CFC1, NRAS, COL6A2, FLNA, SMAD3, NODAL, NOS2, ACTG1, COL5A2, DHCR7, FOXC2, PIK3R2, TGFB1, PTPN11, LPL, SOS2, GATA6, DTNBP1, MYH9, NTRK1, TSC1, PRKACA, GATA5, MED25, AKT3, SCN9A, SOS1, SCN5A, FGFR2, ACTN4, TBX1, COL4A3, GATA4, PDGFRA, CACNA1S, SCN3B, CLASP1, APP, MEF2A, HRAS, COL1A2, LRP2, ACTN2, CALR, AGPAT2, MYH11, BAG3, NR3C1, ESR1, BMPR2, PCK1, CACNA1D, ATIC

NON-IMMUNE HYDROPS FETALIS, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, AORTIC ANEURYSM, FAMILIAL THORACIC 9, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, NOONAN SYNDROME 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, GM1-GANGLIOSIDOSIS, TYPE I, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, LATERAL MENINGOCELE SYNDROME, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, BARAITSER-WINTER SYNDROME 2, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, LONG QT SYNDROME 14, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MEDULLARY CYSTIC KIDNEY DISEASE 1, MARFAN LIPODYSTROPHY SYNDROME, GELEOPHYSIC DYSPLASIA 1, TUBEROUS SCLEROSIS 2, PETERS-PLUS SYNDROME, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, GELEOPHYSIC DYSPLASIA 2, WEILL-MARCHESANI SYNDROME 2, DOMINANT, AU-KLINE SYNDROME, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, CALR, F2, APP, HNRNPK, ACTG1, AKT1, TGFB1, C3, MUC1, GLB1, B3GLCT, MTOR, MUC5B, ADAMTSL2, ASCC1, SOS1, IFNG, ESR1, THSD1, ADAMTS10, FBN1, ADAM17, GALNT3, FN1, MFAP5, EGFR, SPRY2, NOTCH3, EXT2, GALNT14

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 5}, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, LONG QT SYNDROME 12, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, GLUTAMINE DEFICIENCY, CONGENITAL, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, BARTTER SYNDROME, TYPE 2, LONG QT SYNDROME 13, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ZIMMERMANN-LABAND SYNDROME 1, MYOPATHY, DISTAL, 4, CARDIOFACIOCUTANEOUS SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 9, LEOPARD SYNDROME 3, ?DYSTONIA 23, SUPRAVALVAR AORTIC STENOSIS, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1}, AURICULOCONDYLAR SYNDROME 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, RENAL TUBULAR DYSGENESIS, COFFIN-LOWRY SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ATRIOVENTRICULAR SEPTAL DEFECT 3, ATRIAL FIBRILLATION, FAMILIAL, 3, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, ATRIAL FIBRILLATION, FAMILIAL, 7, ATRIAL FIBRILLATION, FAMILIAL, 12, SICK SINUS SYNDROME 2, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, HAJDU-CHENEY SYNDROME, ESSENTIAL HYPERTENSION, AORTIC ANEURYSM, FAMILIAL THORACIC 8, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, FRONTOMETAPHYSEAL DYSPLASIA, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, PRIMARY PULMONARY HYPERTENSION, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, MYOPATHY, DISTAL, TATEYAMA TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, LONG QT SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE I, JERVELL AND LANGE-NIELSEN SYNDROME 1, NON-IMMUNE HYDROPS FETALIS, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SHORT QT SYNDROME 2, TIMOTHY SYNDROME, NOONAN SYNDROME 4, LEFT VENTRICULAR NONCOMPACTION 7, OSTEOGENESIS IMPERFECTA, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CLOVE SYNDROME, SOMATIC, PULMONARY HYPERTENSION, PRIMARY, 4, 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, ANDERSEN SYNDROME, BECKER MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, ALAGILLE SYNDROME 2, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MALIGNANT HYPERTHERMIA SUSCEPTIBILITY TYPE 1, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, POLYCYSTIC LIVER DISEASE, HYPERALDOSTERONISM, FAMILIAL, TYPE III, HYPOPLASTIC LEFT HEART SYNDROME 1, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, NOONAN SYNDROME 7, BRUGADA SYNDROME 9, MECKEL SYNDROME 4, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, HETEROTOPIA, PERIVENTRICULAR, CARDIOMYOPATHY, DILATED, 1U, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

KCNA5, CALM1, CAV3, EDN1, TGFBR1, FLNA, KCNQ1, GJA1, ERBB3, SOX9, HCCS, CHRND, CEP290, APP, KCNH1, FLNC, KCNJ10, TGFB1, CACNA1B, NOTCH2, MEF2A, GLUL, KCNJ1, AGT, DMD, SNCA, PPARG, ANK2, PEX5, CACNA1C, CHRNA1, KCNJ8, PSEN1, MTOR, KCND3, AKAP9, RYR2, SOS1, CBL, ADD1, GNB3, ABCC9, SEC63, KCNMB1, CACNB2, CACNA1S, CFTR, GNAS, COL1A1, MIB1, PIK3CA, SNTA1, KCNJ2, AKT1, HRAS, EGFR, ACTN2, PRKACA, PRKG1, KCNH2, RAF1, KCNJ5, NR3C1, RPS6KA3, BRAF, ESR1, ADCY5, GNAI2, KCNK3, CHRNG, HCN4, CACNA1D, MT-CO1

ADAMS-OLIVER SYNDROME 5, LOEYS-DIETZ SYNDROME 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, NON-IMMUNE HYDROPS FETALIS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, MUCOPOLYSACCHARIDOSIS IH/S, GM1-GANGLIOSIDOSIS, TYPE I, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OMODYSPLASIA 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MUCOPOLYSACCHARIDOSIS, MPS-III-A, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, ESSENTIAL HYPERTENSION, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, EHLERS-DANLOS SYNDROME, TYPE 3, MUCOPOLYSACCHARIDOSIS IS, DIAMOND-BLACKFAN ANEMIA 6, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS II, STICKLER SYNDROME, TYPE I, ?EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MEDULLARY CYSTIC KIDNEY DISEASE 1, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MALFORMATION OF THE HEART, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, PULMONARY HYPERTENSION, PRIMARY, 3, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, LOEYS-DIETZ SYNDROME 4, AORTIC VALVE DISEASE 1, MUCOPOLYSACCHARIDOSIS IVA, PROTEUS SYNDROME, SOMATIC

CHST3, GPC3, TGFB2, GPC6, NOS2, NOTCH1, SDHD, B3GAT3, TGFB1, CHST14, NOS3, RPL5, CAV1, GUSB, IDS, GLB1, HEXB, AKT1, IDUA, COL2A1, NAGLU, NEU1, MUC1, LRP2, TGFBR1, DSE, GALNS, SGSH, EGFR, GNS, B3GALT6, EXT2, HGSNAT, ARSB

LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, 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, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE II, AORTIC VALVE DISEASE 1, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, EHLERS-DANLOS SYNDROME, TYPE VI, STICKLER SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ATRIAL SEPTAL DEFECT 6, OSTEOGENESIS IMPERFECTA, TYPE VII, BETHLEM MYOPATHY 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, EHLERS-DANLOS SYNDROME, TYPE IV, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, FIBROCHONDROGENESIS 1, ALPORT SYNDROME, PROTEUS SYNDROME, SOMATIC

SOX9, BMP1, COL1A1, COL4A1, COL6A2, TGFB1, COL1A2, CRTAP, COL11A1, PLOD3, COL4A4, BMP2, COL5A2, COL6A1, AKT1, PLOD1, COL6A3, COL4A3, COL3A1, TLL1, COL4A5, APP, COL5A1, FN1, COL2A1

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, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, 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, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, LYMPHEDEMA, HEREDITARY, IA, WERNER SYNDROME, MYOPATHY, DISTAL, 4, CARASIL SYNDROME, STICKLER SYNDROME, TYPE I, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, DANON DISEASE, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, SUPRAVALVAR AORTIC STENOSIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, 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, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, 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, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, 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-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 1, AMYLOIDOSIS, FINNISH TYPE, MYHRE SYNDROME, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, BETHLEM MYOPATHY 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, 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, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, PALLISTER-HALL SYNDROME, CORNELIA DE LANGE SYNDROME 3, HETEROTOPIA, PERIVENTRICULAR, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, 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, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, LIANG DISTAL MYOPATHY, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ATRIAL SEPTAL DEFECT 2, PULMONARY HYPERTENSION, PRIMARY, 3, 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, 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, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, TUBEROUS SCLEROSIS-1, 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, AORTIC ANEURYSM, FAMILIAL THORACIC 6, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, CLOVE SYNDROME, SOMATIC, 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, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ATRIOVENTRICULAR SEPTAL DEFECT 5, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, AORTIC ANEURYSM, FAMILIAL THORACIC 7, PSEUDOHYPOALDOSTERONISM, TYPE IIE, MECKEL SYNDROME 4, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, 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, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, PDE4D, BRCA2, CAV1, HBB, FGFR1, PROS1, COL1A1, PKD1, MT-CO2, ACTB, STIM1, CUL3, CENPF, GLI3, PSEN1, KLF1, F2, AGT, PPARG, AGTR1, PRKAR1A, PHYH, EDN1, APOB, MYH7, PLG, FMR1, WT1, CLASP1, DES, PIK3CA, NOTCH1, TGFBR2, CREBBP, GNAI2, PTEN, HTRA1, ACTA1, SERPIND1, RASA1, F5, TGFB2, LAMP2, SOX2, ERBB3, PROC, NPPA, WRN, GNAS, ATP1B1, THPO, COL6A1, MTOR, EDNRA, ACVRL1, NOS3, NR2F2, MECP2, ABCA1, IFNG, CALR, CBL, COL2A1, GNB3, JAK2, KCNMB1, PDE3A, NRAS, TGFBR1, PRKG1, SPRY2, ACTA2, RPS6KA3, TP63, ADD1, SMC3, BMPR2, GATA1, FCGR2A, CAV3, TTR, APP, GJA1, SHOC2, SMAD4, PDE11A, FLT4, CBS, C3, CEP290, MYLK, CHRM3, TGFB3, FLNA, DMD, SOX9, VHL, COL4A1, BMP2, FN1, KRAS, AIP, CFTR, APOA1, LDLR, EGFR, RAF1, NOS2, COL1A2, AKT1, SNCA, RAD51C, TTN, TSHR, PEX5, F13A1, AKAP10, GSN, THBD, PLN, GUCY1A3, SERPINC1, SH2B3, ZFPM2, SMAD3, HNRNPK, PIK3R2, NTRK1, IGF2, CENPE, LPL, SOS2, GATA6, DDX58, MYH9, TGFB1, STAT1, TSC1, PRKACA, GATA5, PTPN11, AKT3, SOS1, FGFR2, ACTN4, GATA4, FLNC, RET, CTCF, KAT6A, HRAS, LRP2, ACTN2, SELE, TF, CTSA, MYH11, NR3C1, ESR1, MT-CO1, HFE, ATIC

BARAITSER-WINTER SYNDROME 1, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, LEOPARD SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, AURICULOCONDYLAR SYNDROME 3, NEUROFIBROMATOSIS, TYPE 1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, MYXOMA, INTRACARDIAC, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, EHLERS-DANLOS SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 6, NOONAN SYNDROME 9, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, AMYLOIDOSIS, FINNISH TYPE, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, DISTAL, TATEYAMA TYPE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, 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, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEFT VENTRICULAR NONCOMPACTION 7, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, DUCHENNE MUSCULAR DYSTROPHY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CLOVE SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, BECKER MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SINGLETON-MERTEN SYNDROME 2, LOEYS-DIETZ SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, NOONAN SYNDROME 7, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, MYHRE SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, ACE, RASA1, TGFBR1, F2, APP, FGFR3, CAV3, IGF2, ERBB3, TSC2, HNRNPK, MAP2K2, SMAD4, PTEN, ACTG1, SNCA, ACTB, SHOC2, ACTN4, PIK3R2, AKT1, TGFB1, CUL3, NOTCH1, RPS6KA3, RPL5, FGFR2, NOS2, CFTR, AGT, NTRK1, DMD, KRAS, FGFR1, ANK2, PRKACA, HES7, PRKAR1A, NOS3, AKT3, EDN1, AKAP9, KL, SOS1, ESR1, GJA1, PSMB8, FGF23, DDX58, CBL, APOA1, JAK2, PDGFRA, NRAS, GNAS, RAF1, PDE3A, MIB1, ACTN2, PIK3CA, CTLA4, FN1, HRAS, SLC25A4, EGFR, SPRY2, FANCA, NF1, CLASP1, CREBBP, NR3C1, GSN, BRAF, TSC1, ADCY5, GNAI2, PTPN11, DYNC2H1, SF3B4, MTOR, SOS2

BARAITSER-WINTER SYNDROME 1, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, LEOPARD SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, AURICULOCONDYLAR SYNDROME 3, NEUROFIBROMATOSIS, TYPE 1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, MYXOMA, INTRACARDIAC, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, EHLERS-DANLOS SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 6, NOONAN SYNDROME 9, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, AMYLOIDOSIS, FINNISH TYPE, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, DISTAL, TATEYAMA TYPE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, 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, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEFT VENTRICULAR NONCOMPACTION 7, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, DUCHENNE MUSCULAR DYSTROPHY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CLOVE SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, BECKER MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SINGLETON-MERTEN SYNDROME 2, LOEYS-DIETZ SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, NOONAN SYNDROME 7, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, MYHRE SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, ACE, RASA1, TGFBR1, F2, APP, FGFR3, CAV3, IGF2, ERBB3, TSC2, HNRNPK, MAP2K2, SMAD4, PTEN, ACTG1, SNCA, ACTB, SHOC2, ACTN4, PIK3R2, AKT1, TGFB1, CUL3, NOTCH1, RPS6KA3, RPL5, FGFR2, NOS2, CFTR, AGT, NTRK1, DMD, KRAS, FGFR1, ANK2, PRKACA, HES7, PRKAR1A, NOS3, AKT3, EDN1, AKAP9, KL, SOS1, ESR1, GJA1, PSMB8, FGF23, DDX58, CBL, APOA1, JAK2, PDGFRA, NRAS, GNAS, RAF1, PDE3A, MIB1, ACTN2, PIK3CA, CTLA4, FN1, HRAS, SLC25A4, EGFR, SPRY2, FANCA, NF1, CLASP1, CREBBP, NR3C1, GSN, BRAF, TSC1, ADCY5, GNAI2, PTPN11, DYNC2H1, SF3B4, MTOR, SOS2

ATRIAL FIBRILLATION, FAMILIAL, 7, JERVELL AND LANGE-NIELSEN SYNDROME 1, ANDERSEN SYNDROME, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, SHORT QT SYNDROME 2, POLYCYSTIC LIVER DISEASE, SESAME SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 12, SICK SINUS SYNDROME 2, CARDIOMYOPATHY, DILATED, 3B, BARTTER SYNDROME, TYPE 2, LONG QT SYNDROME 13, ATRIAL FIBRILLATION, FAMILIAL, 3, ESSENTIAL HYPERTENSION, LONG QT SYNDROME 15, AORTIC ANEURYSM, FAMILIAL THORACIC 8, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, DUCHENNE MUSCULAR DYSTROPHY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, PRIMARY PULMONARY HYPERTENSION, MYOPATHY, DISTAL, 4, BRUGADA SYNDROME 9, ZIMMERMANN-LABAND SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 4, LONG QT SYNDROME 14, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ATRIAL FIBRILLATION, FAMILIAL, 9, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, {HYPERTENSION, DIASTOLIC, RESISTANCE TO}, BECKER MUSCULAR DYSTROPHY, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, TIMOTHY SYNDROME, MYOPATHY, DISTAL, TATEYAMA TYPE, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, HYPERALDOSTERONISM, FAMILIAL, TYPE III, LONG QT SYNDROME 1, PROTEUS SYNDROME, SOMATIC

KCNA5, CALM1, CAV3, KCNQ1, PRKACA, KCNJ10, GNAS, KCNMB1, GNB3, DMD, KCNJ5, CACNA1C, KCNJ8, KCND3, KCNH2, KCNJ1, ABCC9, SEC63, FLNC, PRKG1, KCNJ2, AKT1, ACTN2, RAF1, KCNH1, ANK2, CFTR, KCNK3, HCN4

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PARAGANGLIOMAS 3, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, LEBER OPTIC ATROPHY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PARKINSON DISEASE 4, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PARAGANGLIOMAS 4, SMITH-LEMLI-OPITZ SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1

COX7B, NDUFS3, SDHD, NDUFB3, NDUFAF3, NDUFAF6, NDUFA11, MT-ND6, MT-ND4, DHCR7, SDHA, NDUFAF2, NDUFA1, COX20, TPM3, MT-CO2, SCO1, NDUFS4, NDUFV2, NDUFB9, NDUFS1, NDUFAF4, COX6B1, NDUFS6, SDHC, MT-ND1, TACO1, SCO2, NDUFS2, MT-CO3, MT-ND4L, SNCA, MT-CYB, NDUFAF5, COX8A, MT-ND5, COX14, SDHB, NDUFB11, NDUFV1, MT-ND2, MT-ND3, NDUFS7, MT-CO1

BARAITSER-WINTER SYNDROME 1, WOLFF-PARKINSON-WHITE SYNDROME, ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA 2, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, TYROSINEMIA, TYPE I, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, COCKAYNE SYNDROME, TYPE A, GAUCHER DISEASE, PERINATAL LETHAL, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BARTH SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, VENTRICULAR SEPTAL DEFECT 1, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, VENTRICULAR TACHYCARDIA, IDIOPATHIC, DONNAI-BARROW SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, GLUCOCORTICOID RESISTANCE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, NEUROFIBROMATOSIS-NOONAN SYNDROME, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, MYOPATHY, DISTAL, 4, 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, ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, SICKLE CELL ANEMIA, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, SUPRAVALVAR AORTIC STENOSIS, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, LEFT VENTRICULAR NONCOMPACTION 5, CARDIOMYOPATHY, DILATED, 1S, COENZYME Q10 DEFICIENCY, PRIMARY, 7, AURICULOCONDYLAR SYNDROME 3, PROPIONICACIDEMIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, NOONAN SYNDROME 9, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, BURN-MCKEOWN SYNDROME, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, CARDIOMYOPATHY, HYPERTROPHIC, 22, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4, CARDIOMYOPATHY, DILATED, 1KK, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, RENAL TUBULAR DYSGENESIS, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, GAUCHER DISEASE, TYPE IIIC, GLUTAMINE DEFICIENCY, CONGENITAL, CEREBROTENDINOUS XANTHOMATOSIS, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, MEND SYNDROME, VLCAD DEFICIENCY, MYXOMA, INTRACARDIAC, BARTTER SYNDROME, TYPE 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DESMOSTEROLOSIS, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), COENZYME Q10 DEFICIENCY, PRIMARY, 2, MUSCULAR DYSTROPHY, CONGENITAL, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, EHLERS-DANLOS SYNDROME, TYPE 3, {METABOLIC SYNDROME, PROTECTION AGAINST}, LOEYS-DIETZ SYNDROME 3, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, ATRIAL SEPTAL DEFECT 9, ATRIOVENTRICULAR SEPTAL DEFECT 4, YUNIS-VARON SYNDROME, 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, FLOATING-HARBOR SYNDROME, LONG QT SYNDROME 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MYOPATHY, MYOFIBRILLAR, 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), AMYLOIDOSIS, FINNISH TYPE, CRANIOOSTEOARTHROPATHY, HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, MALOUF SYNDROME, GALACTOSIALIDOSIS, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, MYOPATHY, DISTAL, TATEYAMA TYPE, ROBINOW SYNDROME, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, SMITH-LEMLI-OPITZ SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 11-BETA-HYDROXYLASE DEFICIENCY, GAUCHER DISEASE, TYPE I, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, FANCONI ANEMIA, COMPLEMENTATION GROUP C, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, NON-IMMUNE HYDROPS FETALIS, AL-RAQAD SYNDROME, OROTIC ACIDURIA, POLYCYTHEMIA VERA, SOMATIC, PELGER-HUET ANOMALY, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, KLEEFSTRA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME, COMBINED HYPERLIPIDEMIA, FAMILIAL, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, GM1-GANGLIOSIDOSIS, TYPE I, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OCULOECTODERMAL SYNDROME, VENTRICULAR SEPTAL DEFECT 3, TRIFUNCTIONAL PROTEIN DEFICIENCY, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, CARDIOMYOPATHY, HYPERTROPHIC 6, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SITOSTEROLEMIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, COENZYME Q10 DEFICIENCY, PRIMARY, 5, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, LIANG DISTAL MYOPATHY, CLOVE SYNDROME, SOMATIC, ATRIAL SEPTAL DEFECT 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, RESTRICTIVE DERMOPATHY, LETHAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 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, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, SANDHOFF DISEASE, INFANTILE, JUVENILE, AND ADULT FORMS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CHILD SYNDROME, CORNELIA DE LANGE SYNDROME 1, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, HEMOCHROMATOSIS TYPE 1, ATRIAL SEPTAL DEFECT 7, WITH OR WITHOUT AV CONDUCTION DEFECTS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, ALAGILLE SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, PULMONARY HYPERTENSION, PRIMARY, 3, ATRIAL STANDSTILL 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, COENZYME Q10 DEFICIENCY, PRIMARY, 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO II DEFICIENCY, APPARENT MINERALOCORTICOID EXCESS, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, PARKINSON DISEASE 4, SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE, ?PRUNE BELLY SYNDROME, MALONYL-COA DECARBOXYLASE DEFICIENCY, LIPOPROTEIN LIPASE DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, POLYCYSTIC LIVER DISEASE, 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, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, CPT DEFICIENCY, HEPATIC, TYPE II, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, HAY-WELLS SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, LUJAN-FRYNS SYNDROME, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, ATRIOVENTRICULAR SEPTAL DEFECT 5, TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1, ?CARDIOMYOPATHY, DILATED, 2A, EHLERS-DANLOS SYNDROME, TYPE VI, ESTROGEN RESISTANCE, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ALDOSTERONISM, GLUCOCORTICOID-REMEDIABLE, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), HEART-HAND SYNDROME, SLOVENIAN TYPE, MYHRE SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE, ESSENTIAL HYPERTENSION, APERT SYNDROME, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ATRIAL FIBRILLATION, FAMILIAL, 6, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, CPT II DEFICIENCY, LETHAL NEONATAL, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, SMITH-KINGSMORE SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 7, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, LMNA, FANCM, CAV1, HBB, PLOD3, APOB, COQ9, COL1A1, CPT2, ACADS, PRKACA, ACTB, LBR, CYP27A1, ERCC8, COQ7, CTSA, SMARCA4, RPL5, CYP11B2, AGT, TP63, PCCB, PPARG, PRKAR1A, PHYH, NSDHL, REN, RYR2, MYH7, HADH, NF1, GATA4, PNPLA2, MED13L, MLYCD, DES, PIK3CA, SOS1, NOTCH1, CYP11B1, JAG1, HADHA, CREBBP, CPT1A, UMPS, GNAI2, RBPJ, PTEN, FIG4, ACTA1, ACE, APOA2, KRAS, APOA1, FGFR2, NPPA, NME1, PGM1, NOS3, THRA, KCNJ1, CYP3A5, MTOR, FGFR1, PRKAG2, TAF6, HEXB, HNRNPK, ABCA1, ADAMTS10, PLOD1, ESR1, CBL, NR1I3, IFNG, EBP, CYP4F22, FANCC, NDUFS2, ABCG8, SPRY2, FANCA, ACADVL, GNB3, STAMBP, KMT2A, NUBPL, SOS2, PLIN1, CAV3, TTR, FLNC, GLB1, BMP1, DCPS, SMAD4, DVL3, CBS, EPHX2, STAT1, GMPPB, TAZ, GJA1, CASQ2, BMP2, BRCA1, AKT1, FN1, SOX2, TXNL4A, COQ2, MRPL3, HSD11B2, CFTR, MUT, LDLR, SEC63, EGFR, PEX19, RAF1, HCCS, EDN1, SNCA, ARSB, HSPA9, PEX5, ECHS1, NKX2-5, MTTP, GSN, NEU1, CHRM3, COQ4, MYH6, FAH, NDUFS3, LRP5, SMARCB1, BAAT, NOS2, NR3C1, DHCR7, PIK3R2, ABCG5, PTPN11, LPL, GATA6, TGFB1, HADHB, PEX7, MT-CO2, GATA5, PDSS1, MED25, NDUFS4, PCCA, MED12, FCGR2B, GBA, MYPN, GLA, GLUL, GPX4, PCSK9, APP, CTCF, HRAS, LRP2, ACTN2, PTGIS, DHCR24, AGPAT2, SMAD3, SLC25A20, CHKB, TNNI3, HPGD, C10orf2, JAK2, KIF1BP, ATIC, SRCAP

BARAITSER-WINTER SYNDROME 1, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, FANCONI ANEMIA, COMPLEMENTATION GROUP A, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED, LONG QT SYNDROME 4, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, GLUCOCORTICOID RESISTANCE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, LEOPARD SYNDROME 3, SUPRAVALVAR AORTIC STENOSIS, AURICULOCONDYLAR SYNDROME 3, NEUROFIBROMATOSIS, TYPE 1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, CARDIOMYOPATHY, DILATED, 1NN, MYXOMA, INTRACARDIAC, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CARDIOMYOPATHY, DILATED, 3B, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, EHLERS-DANLOS SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 6, NOONAN SYNDROME 9, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, AMYLOIDOSIS, FINNISH TYPE, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, DISTAL, TATEYAMA TYPE, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, 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, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, LEFT VENTRICULAR NONCOMPACTION 7, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, DUCHENNE MUSCULAR DYSTROPHY, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, HYPERTENSION AND BRACHYDACTYLY SYNDROME, CLOVE SYNDROME, SOMATIC, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TANGIER DISEASE, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, BECKER MUSCULAR DYSTROPHY, VENTRICULAR TACHYCARDIA, IDIOPATHIC, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, TUBEROUS SCLEROSIS-1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, SINGLETON-MERTEN SYNDROME 2, LOEYS-DIETZ SYNDROME 1, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, NOONAN SYNDROME 7, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, PSEUDOHYPOALDOSTERONISM, TYPE IIE, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, PSEUDOHYPOALDOSTERONISM, TYPE 2, MYHRE SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, CALM1, ACE, RASA1, TGFBR1, F2, APP, FGFR3, CAV3, IGF2, APOA1, TSC2, HNRNPK, MAP2K2, SMAD4, PTEN, ACTG1, SNCA, ACTB, SHOC2, ACTN4, PIK3R2, AKT1, TGFB1, CUL3, NOTCH1, RPS6KA3, RPL5, FGFR2, NOS2, CFTR, AGT, NTRK1, DMD, KRAS, FGFR1, ANK2, PRKACA, HES7, PRKAR1A, NOS3, AKT3, EDN1, AKAP9, KL, SOS1, ESR1, GJA1, PSMB8, FGF23, DDX58, CBL, ERBB3, JAK2, PDGFRA, NRAS, GNAS, RAF1, PDE3A, MIB1, ACTN2, PIK3CA, CTLA4, FN1, HRAS, SLC25A4, EGFR, SPRY2, FANCA, NF1, CLASP1, CREBBP, NR3C1, GSN, BRAF, TSC1, ADCY5, GNAI2, PTPN11, DYNC2H1, SF3B4, MTOR, SOS2

HETEROTAXY, VISCERAL, 5, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ADAMS-OLIVER SYNDROME 6, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, {CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 2}, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CLOVE SYNDROME, SOMATIC, DYSAUTONOMIA, FAMILIAL, SUPRAVALVAR AORTIC STENOSIS, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, NOONAN SYNDROME 9, PULMONARY HYPERTENSION, PRIMARY, 2, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CARDIAC ARRHYTHMIA ACUTE RHABDOMYOLYSIS, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, LONG QT SYNDROME 14, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, AMYLOIDOSIS, FINNISH TYPE, ?TETRA-AMELIA SYNDROME, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, HOLT-ORAM SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HAY-WELLS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, POLYCYTHEMIA VERA, SOMATIC, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, EVEN-PLUS SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, THROMBOCYTHEMIA 3, NOONAN SYNDROME 4, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, OCULOECTODERMAL SYNDROME, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, LEFT VENTRICULAR NONCOMPACTION 7, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, ALAGILLE SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ESTROGEN RESISTANCE, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, VENTRICULAR SEPTAL DEFECT 1, EPSTEIN SYNDROME, HEMOCHROMATOSIS TYPE 1, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, ATRIAL STANDSTILL 2, BECKWITH-WIEDEMANN SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 1, PARKINSON DISEASE 4, 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, ATRIAL SEPTAL DEFECT 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MAY-HEGGLIN ANOMALY, HYPERMETHIONINEMIA WITH DEFICIENCY OF S-ADENOSYLHOMOCYSTEINE HYDROLASE, ATRIAL SEPTAL DEFECT 5, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, LATERAL MENINGOCELE SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, HETEROTOPIA, PERIVENTRICULAR, MYHRE SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, ATRIAL FIBRILLATION, FAMILIAL, 6, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, CARDIOMYOPATHY, DILATED, 1V, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1U, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, WNT5A, SALL1, PSEN1, AGT, EDN1, PIK3CA, JAG1, DLL4, ACTC1, CREBBP, IKBKAP, RBPJ, TGFBR2, ACTA1, SHOC2, KRAS, ERBB3, NPPA, NOS3, THRA, MTOR, FGFR1, CBL, PSMB8, JAK2, VPS33B, TGFBR1, SPRY2, NOTCH3, RBP4, FGF23, RPS6KA3, TP63, LRP6, SOS2, TTR, MIB1, GJA1, SOX9, SMAD4, SMAD9, STAT1, PSEN2, LRP5, BMP2, TBX5, AKT1, SOX2, LRP2, STRA6, SNCA, CDKN1C, HSPA9, PTEN, FGFR3, GSN, AMER1, NRAS, FLNA, FZD6, NODAL, NOS2, PIK3R2, TGFB1, WNT3, PTPN11, GATA4, MYH9, AHCY, NOTCH1, AKT3, SOS1, FGFR2, ACTN4, PDGFRA, APP, CTLA4, HRAS, EGFR, ACTN2, ADAM17, SMAD3, ESR1, KL, SKI

OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, ALPORT SYNDROME, AUTOSOMAL DOMINANT, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE II, AORTIC VALVE DISEASE 1, DONNAI-BARROW SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE 3, LOEYS-DIETZ SYNDROME 3, CLOVE SYNDROME, SOMATIC, CUTIS LAXA, AD, STICKLER SYNDROME, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE XIII, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SUPRAVALVAR AORTIC STENOSIS, BETHLEM MYOPATHY 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ATRIAL SEPTAL DEFECT 6, ALPORT SYNDROME, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, EHLERS-DANLOS SYNDROME, TYPE IV, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, FIBROCHONDROGENESIS 1, ROBINOW SYNDROME

COL3A1, SOX9, FBLN5, ELN, COL4A1, COL6A2, COL1A1, COL1A2, COL11A1, COL4A4, BMP2, COL5A2, COL6A3, FN1, BMP1, WNT5A, COL6A1, COL4A3, DST, TLL1, COL4A5, PIK3CA, COL5A1, LRP2, SMAD3, COL2A1

MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS IS, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS IH/S, GM1-GANGLIOSIDOSIS, TYPE I, NON-IMMUNE HYDROPS FETALIS, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), OMODYSPLASIA 1, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ESSENTIAL HYPERTENSION

SGSH, NEU1, GLB1, GPC6, GUSB, NAGLU, HGSNAT, GPC3, IDUA, IDS, NOS3

?GLYCOGEN STORAGE DISEASE XV, NON-IMMUNE HYDROPS FETALIS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, GM1-GANGLIOSIDOSIS, TYPE I, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, AORTIC VALVE DISEASE 1, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS, MPS-III-A, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ATRIOVENTRICULAR SEPTAL DEFECT 4, ATRIAL SEPTAL DEFECT 2, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS IS, MUCOPOLYSACCHARIDOSIS IH/S, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, GLYCOGEN STORAGE DISEASE 0, MUSCLE, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, VENTRICULAR SEPTAL DEFECT 1, MUCOPOLYSACCHARIDOSIS IVA

SGSH, ARSB, GLB1, NAGLU, GNS, GUSB, GYS1, GATA4, GATA5, SMAD4, HGSNAT, NEU1, GYG1, IDUA, IDS, GALNS

BARAITSER-WINTER SYNDROME 1, STAR SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, EHLERS-DANLOS SYNDROME, CARDIAC VALVULAR FORM, AORTIC ANEURYSM, FAMILIAL THORACIC 4, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BARTH SYNDROME, HEMOCHROMATOSIS TYPE 1, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, DIAMOND-BLACKFAN ANEMIA 4, VENTRICULAR SEPTAL DEFECT 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, LONG QT SYNDROME 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CHIME SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, GLUCOCORTICOID RESISTANCE, MELNICK-NEEDLES SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4, WERNER SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPERTHYROIDISM, NONAUTOIMMUNE, HERMANSKY-PUDLAK SYNDROME 1, LEOPARD SYNDROME 3, BARDET-BIEDL SYNDROME 3, MEDULLARY CYSTIC KIDNEY DISEASE 1, SUPRAVALVAR AORTIC STENOSIS, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, LOEYS-DIETZ SYNDROME 3, ESTROGEN RESISTANCE, PETERS-PLUS SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 2, 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, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, WARSAW BREAKAGE SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, NOONAN SYNDROME 4, ADAMS-OLIVER SYNDROME 5, ATRIOVENTRICULAR SEPTAL DEFECT 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, NOONAN SYNDROME 7, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CARDIOMYOPATHY, DILATED, 1NN, BOHRING-OPITZ SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, VLCAD DEFICIENCY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, FEINGOLD SYNDROME, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ESSENTIAL HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 8, HEMOCHROMATOSIS, TYPE 2B, EHLERS-DANLOS SYNDROME, TYPE 3, DIAMOND-BLACKFAN ANEMIA 6, GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2, FRONTOMETAPHYSEAL DYSPLASIA, ATRANSFERRINEMIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, RENAL TUBULAR DYSGENESIS, ATRIOVENTRICULAR SEPTAL DEFECT 4, ADAMS-OLIVER SYNDROME 3, DENYS-DRASH SYNDROME, COFFIN-SIRIS SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, LONG QT SYNDROME 14, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MYOPATHY, MYOFIBRILLAR, 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, ?DIAMOND-BLACKFAN ANEMIA 11, TUBEROUS SCLEROSIS 2, MALFORMATION OF THE HEART, MALOUF SYNDROME, DIAMOND-BLACKFAN ANEMIA 10, GALACTOSIALIDOSIS, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, HYPERCHOLESTEROLEMIA, DUE TO LIGAND-DEFECTIVE APO B, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, HAY-WELLS SYNDROME, CEREBRAL AMYLOID ANGIOPATHY, DUTCH, ITALIAN, IOWA, FLEMISH, ARCTIC VARIANTS, COFFIN-LOWRY SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, NON-IMMUNE HYDROPS FETALIS, POLYCYTHEMIA VERA, SOMATIC, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, CORNELIA DE LANGE SYNDROME 2, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5}, THROMBOCYTHEMIA 3, NESTOR-GUILLERMO PROGERIA SYNDROME, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, OCULOECTODERMAL SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4}, TETRALOGY OF FALLOT, TETROLOGY OF FALLOT, CARDIAC VALVULAR DYSPLASIA, X-LINKED, AURICULOCONDYLAR SYNDROME 3, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, NOONAN SYNDROME 10, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, 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, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ATRIAL SEPTAL DEFECT 2, RESTRICTIVE DERMOPATHY, LETHAL, APERT SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, ?DIAMOND-BLACKFAN ANEMIA 12, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, TRICHOHEPATOENTERIC SYNDROME 2, BERGER DISEASE, TANGIER DISEASE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, PERLMAN SYNDROME, VENTRICULAR TACHYCARDIA, IDIOPATHIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE, {THROMBOPHILIA, SUSCEPTIBILITY TO, DUE TO FACTOR V LEIDEN}, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B, 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, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, TATTON-BROWN-RAHMAN SYNDROME, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, CARDIOMYOPATHY, DILATED, 1A, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, LOEYS-DIETZ SYNDROME 1, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ?ATRIAL FIBRILLATION 15, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, AORTIC ANEURYSM, FAMILIAL THORACIC 6, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, POLYCYSTIC LIVER DISEASE, SIALIC ACID STORAGE DISORDER, INFANTILE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HYPOPLASTIC LEFT HEART SYNDROME 1, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ERYTHROCYTOSIS, FAMILIAL, 2, BARDET-BIEDL SYNDROME 2, GELEOPHYSIC DYSPLASIA 2, LATERAL MENINGOCELE SYNDROME, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MYHRE SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, DYSAUTONOMIA, FAMILIAL, MARFAN LIPODYSTROPHY SYNDROME, MECKEL SYNDROME 4, LONG QT SYNDROME 2, {LONG QT SYNDROME, ACQUIRED, REDUCED SUSCEPTIBILITY TO}, {LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO}, HEART-HAND SYNDROME, SLOVENIAN TYPE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, HETEROTOPIA, PERIVENTRICULAR, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, GELEOPHYSIC DYSPLASIA 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, PULMONARY VENOOCCLUSIVE DISEASE 2, AORTIC ANEURYSM, FAMILIAL THORACIC 9, {PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO}, PHEOCHROMOCYTOMA, {PHEOCHROMOCYTOMA, MODIFIER OF}, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, AORTIC VALVE DISORDER THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, CARDIOMYOPATHY, DILATED, 1II, DIAMOND-BLACKFAN ANEMIA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, AU-KLINE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, LEOPARD SYNDROME 1, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

CALM1, TSC2, NEU1, CAV1, PIGV, PLOD3, PROS1, LMNA, COL1A1, DNAJC19, ACTB, GNAS, CTSA, RPL5, F2, B3GLCT, AGT, TP63, PMM2, PPARG, MGAT2, AGTR1, NOTCH3, ASCC1, EDN1, APOB, PIGC, SLC17A5, ALG1, WT1, ARSB, FANCA, RPL15, FAM58A, DES, PIGL, RPS19, JAG1, SMAD4, WFS1, GNAI2, RBPJ, SF3B4, RAF1, ACTA1, ACE, F5, ECHS1, KRAS, ERBB3, PROC, LZTR1, CREBBP, ACTN4, IGF2, PIGT, NOS3, MYCN, SMAD9, SKIV2L, EDNRA, NR2F2, TAF6, COL1A2, ABCA1, JAK2, CALR, CBL, DDX11, IKBKAP, GNB3, THSD1, ADAMTS10, EFTUD2, NKX2-1, TGFBR1, GALNT3, FKBP14, MAX, SPRY2, TSHR, IFNG, SMC1A, FGF23, AAAS, ACADVL, RPS6KA3, BBS2, ADAMTSL2, DNMT3A, RPL26, PAM16, GALNT14, PIGR, DIS3L2, BANF1, ADAM17, GLB1, MUC5B, REN, SHOC2, SCO2, HSD17B10, NUP155, SDHD, CBS, PRKG1, CEP290, STAT1, GMPPB, TAZ, GJA1, VHL, COL4A1, ARL6, BMP2, HRAS, BRCA1, C3, FN1, EIF2AK4, SMARCA4, COQ2, FOXC2, DTNBP1, RPS17, RPS26, SEC63, EGFR, FBN1, SLC25A4, NOS2, AKT1, PIGO, ACTA2, HSPA9, PTEN, XRCC4, HAMP, BRAF, MYH6, SERPINC1, DPM1, FLNA, SMAD3, SMARCB1, HNRNPK, ACTG1, NOTCH1, ASXL1, PIGM, DPH1, PRKCSH, ALG10, WRN, CENPE, GATA4, MUC1, CFTR, TGFB1, EXT2, MT-CO2, FXN, PTPN11, PLG, SELE, SOS1, CFB, FGFR2, PACS1, ADD1, PIGN, RPL11, GMPPA, CRYAB, ATP5A1, APP, CTCF, SMC3, MFAP5, DOLK, ACTN2, PIGA, TF, EPOR, MYH11, NR3C1, ESR1, HFE, MTOR

GLOMERULOSCLEROSIS, FOCAL SEGMENTAL, 1, ?ATRIAL FIBRILLATION 15, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, POLYCYTHEMIA VERA, SOMATIC, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, THROMBOCYTHEMIA 3, SINGLETON-MERTEN SYNDROME 2, THROMBOCYTHEMIA 1, THROMBOCYTHEMIA, SOMATIC, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LARSEN SYNDROME, OPITZ GBBB SYNDROME, TYPE I, ERYTHROCYTOSIS, FAMILIAL, 2, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, ESSENTIAL HYPERTENSION, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COFFIN-SIRIS SYNDROME 4, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, DIAMOND-BLACKFAN ANEMIA 6, {?IGA NEPHROPATHY, SUSCEPTIBILITY TO, 3}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, LOEYS-DIETZ SYNDROME 3, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, ESTROGEN RESISTANCE, HERMANSKY-PUDLAK SYNDROME 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, 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}, JOHANSON-BLIZZARD SYNDROME, RUBINSTEIN-TAYBI SYNDROME, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LEOPARD SYNDROME 1

GATA1, TTR, SMARCA4, NOS2, NUP155, PSMB8, ATP1B1, NTRK1, UBR1, RPL5, DDX58, TGFB1, VHL, MID1, HLA-B, PTPN11, JAK2, CBL, ACTN4, DTNBP1, IFNG, STAT1, AAAS, CALR, SPRY2, EGFR, ACTN2, SMAD3, CREBBP, ESR1, CFTR, FLNB

NON-IMMUNE HYDROPS FETALIS, CARDIOMYOPATHY, HYPERTROPHIC, 11, CARDIOMYOPATHY, HYPERTROPHIC, 25, CARDIOMYOPATHY, DILATED, 1Y, LEFT VENTRICULAR NONCOMPACTION 9, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ATRIAL SEPTAL DEFECT 5, CARDIOMYOPATHY, DILATED, 3B, DILATED CARDIOMYOPATHY 1DD, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CARDIOMYOPATHY, DILATED, 1R, LEFT VENTRICULAR NONCOMPACTION 4, DUCHENNE MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J, CARDIOMYOPATHY, HYPERTROPHIC, 2, ?CARDIOMYOPATHY, DILATED, 2A, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3, CARDIOMYOPATHY, HYPERTROPHIC, 4, MYOPATHY, MYOFIBRILLAR, 1, BECKER MUSCULAR DYSTROPHY, MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY, CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1, LEFT VENTRICULAR NONCOMPACTION 10, CARDIOMYOPATHY, DILATED, 1MM, SCAPULOPERONEAL MYOPATHY, MYH7-RELATED CARDIOMYOPATHY, RESTRICTIVE LONG QT SYNDROME FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 1 PRIMARY FAMILIAL HYPERTROPHIC CARDIOMYOPATHY, MALFORMATION OF THE HEART, CARDIOMYOPATHY, HYPERTROPHIC, 23, WITH OR WITHOUT LVNC, CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LVNC, LEFT VENTRICULAR NONCOMPACTION 6, CARDIOMYOPATHY, DILATED, 1D, CARDIOMYOPATHY, HYPERTROPHIC, 7, CARDIOMYOPATHY, DILATED, 1A, CARDIOMYOPATHY, HYPERTROPHIC, 3, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT

ACTA1, TPM2, ACTN2, TPM3, TNNT2, TNNI3, TCAP, ACTC1, MYL3, NEB, TPM1, DES, TTN, MYH6, DMD, MYBPC3