RESPIRATORY

IMMUNODEFICIENCY 19, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, WISKOTT-ALDRICH SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?IMMUNODEFICIENCY 22

LCK, CBL, CD3G, CD3D, HLA-DRB1, ZAP70, B2M, CD3E, WAS

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, TUBEROUS SCLEROSIS 2, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, PEUTZ-JEGHERS SYNDROME, TUBEROUS SCLEROSIS-1, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 16, PROTEUS SYNDROME, SOMATIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1

COX6B1, STK11, F2, LRPPRC, TSC1, PTEN, PRKAG2, COX14, LAMTOR2, SCO1, TP63, TSC2, TACO1, MT-CO2, SURF1, COX8A, MT-CO3, COX20, AKT1, MT-CO1, SCO2

IMMUNODEFICIENCY 19, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?IMMUNODEFICIENCY 22

LCK, HLA-DRB1, CD3G, CD3D, ZAP70, B2M, CD3E

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GELEOPHYSIC DYSPLASIA 2, OSTEOGENESIS IMPERFECTA, TYPE II, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, MYHRE SYNDROME, CUTIS LAXA, AD, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, LOEYS-DIETZ SYNDROME 4, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIAPHANOSPONDYLODYSOSTOSIS, RENAL ADYSPLASIA

LTBP4, COL1A2, EFEMP2, BMPER, TGFB2, ITGA8, ACVR1, FBN1, ELN, COL1A1, EGFR, BMP2, LTBP2, SMAD4, FBN2, TGFB1, FBLN5, NOTCH1

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, COMBINED SAP DEFICIENCY, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 5, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, KRABBE DISEASE, ATYPICAL, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

ACTA1, F2, PSAP, ERBB3, SERPINA1, TGFB1, FLNA, STAT1, TGFB2, AGT, PLG, AKT1, PROS1, IL2RA, IFNG, WT1, FLNC, EGFR, TTN, SERPING1, F13A1, HSPG2, PIK3R1, JAK2, SELP, SHH

IMMUNODEFICIENCY 19, TUBEROUS SCLEROSIS 2, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?IMMUNODEFICIENCY 22

LCK, STAT1, B2M, CD3G, IFNG, HLA-DRB1, CD3E, CD3D

NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, NON-IMMUNE HYDROPS FETALIS, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 4, DUCHENNE MUSCULAR DYSTROPHY, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, MYOPATHY, MYOFIBRILLAR, 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT

ACTA1, EGFR, TTN, CAV3, ACTA2, TPM3, TNNT2, DMD, MYH11, TPM2, MYBPC1, NEB, DES, BIN1, ERBB4, HRAS, DAG1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, GREENBERG SKELETAL DYSPLASIA, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PARAGANGLIOMAS 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, PROTEUS SYNDROME, SOMATIC, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, D-2-HYDROXYGLUTARIC ACIDURIA, MYHRE SYNDROME, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, FRENCH-CANADIAN TYPE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 16, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), SMITH-LEMLI-OPITZ SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1

NDUFS3, SDHD, NDUFA11, NDUFB3, NDUFS1, NDUFAF3, NDUFAF6, DHCR7, SMAD4, MT-ND6, MT-ATP6, LBR, SDHA, AKT1, NDUFAF2, NDUFA9, NDUFA1, NDUFA12, HSPD1, ETFB, D2HGDH, MT-CO2, SCO1, NDUFS4, NDUFV2, ETFA, NDUFB9, COX20, LEP, NDUFAF4, LRPPRC, COX6B1, ATP5A1, SDHC, MT-ND1, TACO1, SCO2, NDUFS8, NDUFS2, MT-CO3, MT-ND5, MT-ND3, NDUFA2, NDUFS6, NDUFV1, NDUFAF5, COX8A, SUCLG1, MPC1, COX14, SUCLA2, SURF1, NDUFA10, ETFDH, NDUFS7, MT-CO1

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

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

MUCOPOLYSACCHARIDOSIS IH, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, NON-IMMUNE HYDROPS FETALIS, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS IS, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, MUCOPOLYSACCHARIDOSIS IH/S, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MUCOPOLYSACCHARIDOSIS, MPS-III-A, PROTEUS SYNDROME, SOMATIC

SGSH, EGFR, GLB1, NAGLU, EGR2, B3GAT3, HSPG2, TAF6, CAV1, HGSNAT, NEU1, GPC3, AKT1, GUSB, IDS, AGRN, IDUA, DAG1

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, LYSINURIC PROTEIN INTOLERANCE, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MELNICK-NEEDLES SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, FRONTOMETAPHYSEAL DYSPLASIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BETHLEM MYOPATHY 1, PULMONARY HYPERTENSION, PRIMARY, 3, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ?IMMUNODEFICIENCY 22, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

LCK, NRAS, F2, PROC, PROS1, IL10, COL1A1, TGFB1, FLNA, COL1A2, CAV1, TNF, CDK5, PLG, AKT1, EGR2, B2M, COL6A1, CD244, ITGA3, ATP1A3, HRAS, EGFR, KRAS, SLC7A7, ERBB4, SELP, PIK3R1, PTPRC, JAK2, SH2D1A, SHH

IMMUNODEFICIENCY 15, IMMUNODEFICIENCY, COMMON VARIABLE, 4, THANATOPHORIC DYSPLASIA, TYPE II, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE I, DUCHENNE MUSCULAR DYSTROPHY, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, PULMONARY VENOOCCLUSIVE DISEASE 1, KEUTEL SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HERMANSKY-PUDLAK SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SADDAN, IMMUNODEFICIENCY 35, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, LARSEN SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, FEINGOLD SYNDROME, CD8 DEFICIENCY, FAMILIAL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, ?RENAL HYPODYSPLASIA/APLASIA 2, PRIMARY PULMONARY HYPERTENSION, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, PRADER-WILLI SYNDROME, ATELOSTEOGENESIS, TYPE I, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, OSTEOGLOPHONIC DYSPLASIA, AGAMMAGLOBULINEMIA 6, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, ?IMMUNODEFICIENCY 37, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ATAXIA-TELANGIECTASIA, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PULMONARY HYPERTENSION, PRIMARY, 3, IMMUNODEFICIENCY, COMMON VARIABLE, 2, OPITZ GBBB SYNDROME, TYPE I, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYHRE SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, PROTEUS SYNDROME, SOMATIC

CAV1, FGFR1, NCF1, COL1A1, MID1, CD8A, CIITA, RPL5, F2, AGT, TP63, IRF7, EDN1, GJA1, BTK, B2M, RANBP2, NFKBIA, NCF4, TBK1, CD79B, IL2RG, SF3B4, MUSK, ACTA1, CSF2RB, FGFR3, KRAS, ERBB3, IL10, CASP8, CREBBP, IRF5, SQSTM1, NOTCH1, MYCN, TNF, HLA-DRB1, EDNRA, CD3E, EDA, LEP, PIK3CD, JAK2, CBL, SMARCE1, CCND1, IFNG, TAP1, NRAS, HSPD1, AICDA, LAMTOR2, WAS, TYK2, PCK1, BMPR2, TNFRSF13B, IL7R, IL2RA, ACE, BLNK, SMAD4, STAT1, GMPPB, FOXF1, NFKB2, VHL, RAPSN, HES7, TRIM2, FGF20, NDN, AKT1, PLEC, INPPL1, CFTR, TNFRSF13C, IKBKB, IGKC, DCTN1, HLA-G, KCNQ2, ERBB4, IL1RN, EIF4A3, RUNX2, LCK, GLE1, FLNA, TGFB1, ATM, JAK3, DTNBP1, FGF10, BCL10, DMD, NFKB1, STAT3, CD19, IL13, FGFR2, CDKN1B, PDGFRA, BDNF, CTLA4, HRAS, EGFR, MGP, EPOR, ZAP70, HSPG2, PIK3R1, FLNB, GPD1L, SHH

HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, PULMONARY VENOOCCLUSIVE DISEASE 1, MYOTUBULAR MYOPATHY, X-LINKED, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?IMMUNODEFICIENCY 22, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, PRIMARY PULMONARY HYPERTENSION, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, RHEUMATOID ARTHRITIS, PITT-HOPKINS-LIKE SYNDROME 2, BETHLEM MYOPATHY 1, TUBEROUS SCLEROSIS 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], EHLERS-DANLOS SYNDROME, TYPE VIIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, EHLERS-DANLOS SYNDROME, TYPE IV, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, MYOPATHY, MYOFIBRILLAR, 2, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 19, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VI, LARYNGOONYCHOCUTANEOUS SYNDROME, CUTIS LAXA, AD, CROUZON SYNDROME, AGAMMAGLOBULINEMIA 3, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, APERT SYNDROME, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, ?MYASTHENIC SYNDROME, CONGENITAL, 17, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, PROTEUS SYNDROME, SOMATIC

LCK, PRKDC, SOX9, PRSS2, FLNC, TGFB2, PLEC, FGFR2, CIITA, SERPINH1, SMAD4, PTEN, COL5A2, COL6A2, BMPR2, LAMA2, AKT1, TGFB1, FLNA, COL3A1, COL1A1, MYCN, NRXN1, F2, FBLN5, LEP, AGT, CD79A, COL11A2, VHL, STAT3, COL5A1, CDKN1B, BMP2, COL6A1, LTBP2, COL1A2, COL6A3, FBN2, GFPT1, ITGA8, IL13, PLOD1, LTBP4, B2M, PLG, CCND1, TNF, SELP, AGRN, ITGA3, EFEMP2, CRYAB, TUFM, LRP2, FBN1, ELN, DNM2, BMPER, HFE, NOTCH1, AIFM1, ADAMTS2, EGFR, ITGA7, DAG1, IFNG, COL13A1, MUSK, MYH11, PRSS1, HSPG2, LAMA3, ACVR1, DDR2, DST, SHH, COL2A1, JAK2, RUNX2, CTSD, DMD, PIK3R1, LRP4

BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, GLYCOGEN STORAGE DISEASE IC, PROPIONICACIDEMIA, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BROWN-VIALETTO-VAN LAERE SYNDROME 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, BLOOM SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, INTERSTITIAL LUNG AND LIVER DISEASE, MYHRE SYNDROME, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MYOPATHY, MYOFIBRILLAR, 2, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, COENZYME Q10 DEFICIENCY, PRIMARY, 7, NEU-LAXOVA SYNDROME 1, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRASER SYNDROME, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, CILIARY DYSKINESIA, PRIMARY, 6, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, GLUTAMINE DEFICIENCY, CONGENITAL, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, CORNELIA DE LANGE SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, VLCAD DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ?IMMUNODEFICIENCY 22, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, FAZIO-LONDE DISEASE, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, MUCOPOLYSACCHARIDOSIS II, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, DYSKERATOSIS CONGENITA, X-LINKED, URBACH-WIETHE DISEASE, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, FILS SYNDROME, JOUBERT SYNDROME 5, TRIFUNCTIONAL PROTEIN DEFICIENCY, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, AURICULOCONDYLAR SYNDROME 2, RHEUMATOID ARTHRITIS, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), LETHAL CONGENITAL CONTRACTURE SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, PRADER-WILLI SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, COMBINED SAP DEFICIENCY, EPILEPSY, PYRIDOXINE-DEPENDENT, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, MYOPATHY, MYOFIBRILLAR, 5, CEREBROTENDINOUS XANTHOMATOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, GAUCHER DISEASE, TYPE I, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, OSTEOGLOPHONIC DYSPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, TIMOTHY SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, DYSTONIA 6, TORSION, ARTS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, GLYCOGEN STORAGE DISEASE II, ATAXIA-TELANGIECTASIA, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, MYASTHENIC SYNDROME, CONGENITAL, 5, ACHONDROGENESIS IB, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, IMMUNODEFICIENCY 8, AURICULOCONDYLAR SYNDROME 1, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, NIEMANN-PICK DISEASE, TYPE A, RESTRICTIVE DERMOPATHY, LETHAL, APERT SYNDROME, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, PEELING SKIN SYNDROME 1, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ?MYASTHENIC SYNDROME, CONGENITAL, 18, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, FRENCH-CANADIAN TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CHILD SYNDROME, TUBEROUS SCLEROSIS 2, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PULMONARY HYPERTENSION, PRIMARY, 3, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, TRIMETHYLAMINURIA, OPITZ-KAVEGGIA SYNDROME, JOUBERT SYNDROME-3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MYASTHENIC SYNDROME, CONGENITAL, 16, BIOTINIDASE DEFICIENCY, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?IMMUNODEFICIENCY 13, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, SED CONGENITA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, SENGERS SYNDROME, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PLEUROPULMONARY BLASTOMA, ASPARAGINE SYNTHETASE DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE II, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MARSHALL-SMITH SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, PARAGANGLIOMAS 3, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, D-2-HYDROXYGLUTARIC ACIDURIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MUCOPOLYSACCHARIDOSIS, MPS-III-A, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, RENAL ADYSPLASIA, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CUTIS LAXA, AD, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CROUZON SYNDROME, PRIMARY PULMONARY HYPERTENSION, COPROPORPHYRIA, HARDEROPORPHYRIA, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, ?HYDROXYKYNURENINURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, FARBER LIPOGRANULOMATOSIS, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, MUCOPOLYSACCHARIDOSIS IH/S, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, 2-METHYLBUTYRYLGLYCINURIA, HYPOMYELINATION, GLOBAL CEREBRAL, IMMUNODEFICIENCY 36, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, CODAS SYNDROME, CPT II DEFICIENCY, LETHAL NEONATAL, PULMONARY VENOOCCLUSIVE DISEASE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, IMMUNODEFICIENCY, COMMON VARIABLE, 12, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MUCOPOLYSACCHARIDOSIS IVA, KRABBE DISEASE, ATYPICAL, MUCOPOLYSACCHARIDOSIS IS, PROTEUS SYNDROME, SOMATIC

PEX5, TSC2, RPL5, DNM2, CAV1, HBB, ASAH1, KMT2A, CDK5, COQ9, CAV3, COL1A1, CPT2, ADRB2, MT-CO2, LBR, CYP27A1, CIITA, COQ7, COL1A2, TAP1, HLCS, NDUFA1, AGT, PCCB, THAP1, SCO1, AGTR1, MARS, COLQ, TSR2, RANBP2, NCF4, UBA1, HGSNAT, BTD, NSDHL, BTK, MCCC2, REN, TK2, POLE, B2M, STK11, NDUFS4, IL10, PRPS1, SLC25A1, MUC7, TERT, KCNH2, TGFB2, FBP1, MMAB, AGK, DES, MT-CO3, IDUA, COX20, NDUFV2, GALNS, ACADSB, POR, AGRN, GFPT1, CYB5R3, SMAD4, ADCY6, ECM1, LONP1, BLM, COL2A1, CHST14, ETFDH, COX8A, NUBPL, ACTA1, ACE, SDHD, GRIP1, F13A1, FBLN5, GJA1, ERBB3, CBL, NDUFAF3, NDUFAF6, NDUFA11, NAGS, MYH7, TBK1, GPC3, SURF1, PGM1, IDS, SQSTM1, NFKBIA, NDUFS6, ALDH7A1, GLUL, ASNS, DAG1, NDUFA12, TNF, SMAD9, CORO1A, FGFR1, PRKAG2, MT-ND6, TAF6, LMNA, EGR2, PIK3CD, CPOX, COPA, ALAD, HADHA, JAK2, DKC1, AIFM1, NDUFAF2, DSP, NDUFAF4, MTM1, CCND1, TALDO1, IFNG, TPM2, EBP, ELOVL4, NKX2-1, NAGLU, PDGFRA, SOX9, NDUFS2, F2, HSPD1, MT-ND3, FKBP14, FCGR2B, ALPL, ABCD4, GUSB, NDUFA9, RYR1, TNNT2, MPC1, COX14, SUCLA2, TP63, NDUFV1, NDUFA10, IL13, SUFU, SNAP25, NDUFS7, BIN1, CTSD, BMPR2, KCNA5, TUFM, MT-ATP6, BANF1, FLNC, GLB1, HEXA, SHH, NDUFB3, CCL11, GLE1, SCO2, INPP5E, MTHFR, KYNU, SMPD1, G6PC3, GNS, GDNF, CEP290, SUCLG1, STAT1, GMPPB, LRP5, CASR, LEP, CNTN1, PCK1, VHL, ALOX5, BCS1L, NFIX, BMP2, NDUFA2, SSR4, NDN, PAM16, AKT1, KRAS, TPI1, PRSS1, PRKDC, FMO3, MRPL3, LRPPRC, MED12, ETFA, SEC63, EGFR, HMBS, ARSB, LRP2, PHGDH, COX15, CASP8, DNA2, CDSN, EDN1, SGSH, MCCC1, KCNQ2, PLCB4, MUSK, ECHS1, COQ4, MMAA, ETFB, CRYAB, NEU1, NME8, ACP5, DST, COX10, GAA, LYRM4, RUNX2, NDUFS1, NDUFS8, AHI1, LCK, SERPINC1, SLC26A2, SDHA, KCNQ1, PSAP, IL4R, INPPL1, HADHB, SLC25A12, JAGN1, TARDBP, DHCR7, B3GAT3, SDHC, TGFB1, PRKCSH, ATM, PIP5K1C, CFTR, FGF10, DICER1, DMD, NFKB1, STAT3, SLC52A3, CACNA1C, D2HGDH, SLC37A4, NOTCH1, PLG, PCCA, COX6B1, NDUFB9, FGFR2, CREBBP, PLCG2, POLA1, GBA, CDKN1B, GLA, CA5A, ZMPSTE24, RTEL1, NDUFS3, MT-ND5, TACO1, ATP5A1, UNC119, RET, CHAT, PNP, PTEN, HRAS, ACADVL, LIPA, ATP1A3, NDUFAF5, ADA, EPOR, NCF1, MYH11, MT-ND1, SLC25A20, CFL2, HSPG2, SELP, PEX7, MT-CO1, TINF2, KIF1BP, GPD1L, GATA2, PIK3R1

IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?IMMUNODEFICIENCY 39, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, SADDAN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?RENAL HYPODYSPLASIA/APLASIA 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, IMMUNODEFICIENCY 19, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY, COMMON VARIABLE, 3, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, CSF2RB, F2, CD3D, FGFR1, PLEC, GJA1, ERBB3, CAV3, FGFR2, LAMTOR2, SMAD4, ADCY6, SQSTM1, TNF, TGFB1, NOTCH1, RPL5, IRF7, KRAS, STAT1, AGT, DMD, HLA-DRB1, NFKB1, STAT3, CD3E, LEP, TSC2, FGF20, PIK3CD, IL2RA, MUSK, AKT1, CDKN1B, CCND1, B2M, SMARCE1, TAP1, CFTR, IL10, WAS, JAK2, JAK3, PDGFRA, NRAS, IKBKB, GPD1L, CBL, NCF1, CTLA4, EDN1, HRAS, CD19, ERBB4, EGFR, KCNQ2, RUNX2, PTEN, HES7, FGFR3, BDNF, TBK1, HSPG2, FGF10, TSC1, SHH, ACE, IL2RG, DYNC2H1, SF3B4, NFKB2, PIK3R1

PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, NON-IMMUNE HYDROPS FETALIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, OSTEOGENESIS IMPERFECTA, TYPE II, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, 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, ACHONDROGENESIS IB, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ

DPM1, SLC26A2, COL1A1, SDHD, DPAGT1, CHST14, TGFB1, B3GAT3, COL1A2, DAG1, MOGS, NOTCH1, PGM1, GFPT1, PIGC, AGRN, NEU1, DPM2, ATP5A1, GPC3, EGFR, MPDU1, GNE, RFT1, HSPG2

IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?IMMUNODEFICIENCY 39, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, SADDAN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?RENAL HYPODYSPLASIA/APLASIA 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PSEUDOHYPOALDOSTERONISM, TYPE I, RHEUMATOID ARTHRITIS, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, OSTEOGLOPHONIC DYSPLASIA, AGAMMAGLOBULINEMIA 6, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AGAMMAGLOBULINEMIA 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYHRE SYNDROME, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 3, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, CSF2RB, F2, CD3D, SHH, PLEC, NFKB2, ERBB3, TSC2, FGFR2, LAMTOR2, SMAD4, CD3E, SQSTM1, TNF, TGFB1, NOTCH1, RPL5, IRF7, KRAS, AGT, CTLA4, DMD, HLA-DRB1, FGFR1, TP63, SCNN1A, LEP, FGF20, PIK3CD, MUSK, AKT1, CDKN1B, GJA1, B2M, SMARCE1, CCND1, IL10, IL2RA, JAK2, IGHM, EGFR, PDGFRA, EPOR, IKBKB, GPD1L, CBL, NFKBIA, NCF1, FOXF1, EDN1, HRAS, CD19, ERBB4, ITCH, KCNQ2, DNMT3B, SFTPC, RUNX2, PTEN, HES7, FGFR3, BDNF, NRAS, JAK3, HSPG2, FGF10, TSC1, CD79B, ACE, IL2RG, STAT3, DYNC2H1, SF3B4, PCK1, PIK3R1

{VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ACHONDROPLASIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CROUZON SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, DUCHENNE MUSCULAR DYSTROPHY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?RENAL HYPODYSPLASIA/APLASIA 2, RHEUMATOID ARTHRITIS, COFFIN-SIRIS SYNDROME 1, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, AMYOTROPHIC LATERAL SCLEROSIS 19, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, APLASIA OF LACRIMAL AND SALIVARY GLANDS, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 35, ?IMMUNODEFICIENCY 22, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, RENAL TUBULAR DYSGENESIS, SADDAN, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 36, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, CSF2RB, ACE, F2, PLEC, GJA1, ERBB3, NRAS, LAMTOR2, SMAD4, IL10, TNF, TGFB1, NOTCH1, JAK3, KRAS, AGT, DMD, FGFR1, HES7, LEP, FGF20, MUSK, AKT1, CDKN1B, FGFR2, SMARCE1, CCND1, CBL, IL2RA, JAK2, HLA-DRB1, PDGFRA, IKBKB, NCF1, EDN1, HRAS, EGFR, KCNQ2, GPD1L, ERBB4, FGFR3, BDNF, HSPG2, FGF10, STAT3, SHH, TYK2, IL2RG, RUNX2, SF3B4, NFKB2, PIK3R1

IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, PROPIONICACIDEMIA, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, NON-IMMUNE HYDROPS FETALIS, THANATOPHORIC DYSPLASIA, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, ?OSTEOGENESIS IMPERFECTA, TYPE X, INTERSTITIAL LUNG AND LIVER DISEASE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MEIER-GORLIN SYNDROME 1, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, AMYOTROPHIC LATERAL SCLEROSIS 19, MUCOPOLYSACCHARIDOSIS IS, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, METATROPIC DYSPLASIA, SICKLE CELL ANEMIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, FRASER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, APLASIA OF LACRIMAL AND SALIVARY GLANDS, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, IMMUNODEFICIENCY 43, ?RENAL HYPODYSPLASIA/APLASIA 2, IMMUNODEFICIENCY 19, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SADDAN, CEREBROTENDINOUS XANTHOMATOSIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ?IMMUNODEFICIENCY 22, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, RENAL TUBULAR DYSGENESIS, WRINKLY SKIN SYNDROME, MUCOPOLYSACCHARIDOSIS II, BEARE-STEVENSON CUTIS GYRATA SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), LETHAL CONGENITAL CONTRACTURE SYNDROME 1, ACHONDROGENESIS IB, ?TETRA-AMELIA SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, DYSAUTONOMIA, FAMILIAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, MYOPATHY, MYOFIBRILLAR, 5, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, OSTEOGLOPHONIC DYSPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, TIMOTHY SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY, COMMON VARIABLE, 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, GLYCOGEN STORAGE DISEASE II, ATAXIA-TELANGIECTASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, KAPPA LIGHT CHAIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, IMMUNODEFICIENCY 14, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, METHYLMALONIC ACIDURIA CBLB TYPE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AGAMMAGLOBULINEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, WISKOTT-ALDRICH SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, ?MYASTHENIC SYNDROME, CONGENITAL, 18, IMMUNODEFICIENCY, COMMON VARIABLE, 6, HYPERPARATHYROIDISM, NEONATAL, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, TUBEROUS SCLEROSIS 2, CEREBELLOFACIODENTAL SYNDROME, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, COMMON VARIABLE IMMUNODEFICIENCY 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, TRIMETHYLAMINURIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, DIAMOND-BLACKFAN ANEMIA 10, MEIER-GORLIN SYNDROME 4, BIOTINIDASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AMYOTROPHIC LATERAL SCLEROSIS 17, MYOTUBULAR MYOPATHY, X-LINKED, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, JOUBERT SYNDROME-3, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, MUCOPOLYSACCHARIDOSIS, MPS-III-A, NEU-LAXOVA SYNDROME 1, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE IV, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, CUTIS LAXA, AD, LOEYS-DIETZ SYNDROME 4, CROUZON SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SIALURIA, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, CODAS SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, GELEOPHYSIC DYSPLASIA 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MUCOPOLYSACCHARIDOSIS IVA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

TSC2, NEU1, HLCS, HBB, CD3D, NCF1, ADRB2, NAA10, MT-CO2, CYP27A1, CIITA, COL3A1, RPL5, FTL, CYBA, GUSB, AGT, IRF7, LEP, CDK5, VMA21, GALNS, EDN1, BTK, MCCC2, KMT2A, IDUA, IL4R, SDHA, RANBP2, IGHM, ERBB4, TGFB2, COL1A1, DNM2, NFKBIA, CDT1, SERPINH1, NCF4, POR, AGRN, FMO3, TBK1, COL2A1, ATP6V0A2, SF3B4, MUSK, NUBPL, ACTA1, ACE, SDHD, GRIP1, TRPV4, KRAS, NFKB2, ERBB3, CBL, ELN, CREBBP, IRF5, LONP1, PGM1, IDS, SQSTM1, NOTCH1, DAG1, TNF, SMAD9, FGFR1, CD3E, TAF6, BTD, COL1A2, PIK3CD, GFPT1, CDKN1B, AIFM1, IL10, SMARCE1, IKBKAP, CCND1, JAK2, TAP1, NRAS, NAGLU, SGSH, NDUFS2, F2, HSPD1, CD81, EFTUD2, ARSB, IFNG, NLRP1, TP63, SNAP25, NDUFS3, PCCB, CAV3, BANF1, DPAGT1, GLB1, GJA1, SOX9, MMAB, SMAD4, RPS28, CHST14, GNS, STAT1, GMPPB, LRP5, CASR, ICOS, CTSD, VHL, SNRPB, RAPSN, BMP2, FGF20, AKT1, SLC26A2, TPI1, PRKDC, CYBB, NDUFS1, MRPL3, LRPPRC, WAS, ETFA, SEC63, EGFR, ATP1A3, NCF2, PHGDH, IGKC, FBN1, CHMP2B, MCCC1, MPDU1, GNE, PTEN, FGFR3, B2M, ACVRL1, AMER1, INPPL1, HGSNAT, RUNX2, OCLN, AHI1, LCK, GLE1, DPM1, FLNA, MOGS, FZD6, GAA, PIGC, DPM2, PTGER2, FLNC, B3GAT3, BCL10, WNT3, ATM, CFTR, BRF1, RPS26, FGF10, TGFB1, NFKB1, STAT3, ORC1, CACNA1C, CD19, PCCA, FGFR2, MARS, PDGFRA, SCNN1A, BDNF, ATP5A1, GPC3, PTH1R, CTLA4, TUFM, HRAS, LRP2, STRA6, SARS2, GPD1L, EPOR, IKBKB, RFT1, HSPG2, SELP, FCGR2A, PIK3R1, TINF2, HFE, PORCN, MMAA, SHH

MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OSTEOGENESIS IMPERFECTA, TYPE II, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, GELEOPHYSIC DYSPLASIA 2, DYSTONIA 27, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?MYOSCLEROSIS, CONGENITAL, RENAL ADYSPLASIA, SED CONGENITA, KNIEST DYSPLASIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYASTHENIC SYNDROME, CONGENITAL, 19, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BETHLEM MYOPATHY 1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, EHLERS-DANLOS SYNDROME, TYPE IV, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL

COL3A1, F2, ITGA8, COL1A1, COL6A2, TGFB1, COL1A2, DAG1, TNF, COL5A1, COL5A2, COL6A1, COL6A3, AGRN, ITGA3, FBN1, ITGA7, COL13A1, SELP, HSPG2, COL2A1, RUNX2

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?MYOSCLEROSIS, CONGENITAL, ?OSTEOGENESIS IMPERFECTA, TYPE X, RENAL ADYSPLASIA, SED CONGENITA, KNIEST DYSPLASIA, CUTIS LAXA, AD, LARYNGOONYCHOCUTANEOUS SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BETHLEM MYOPATHY 1, ?MYASTHENIC SYNDROME, CONGENITAL, 17, OSTEOGENESIS IMPERFECTA, TYPE II, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, EHLERS-DANLOS SYNDROME, TYPE IV

SOX9, TGFB2, ITGA8, ELN, COL6A2, LAMA2, TNF, TGFB1, COL5A2, DAG1, COL6A1, AGT, VHL, COL5A1, BMP2, COL3A1, COL6A3, SERPINH1, LRP4, IL13, PLG, AGRN, COL1A1, COL1A2, ITGA7, MUSK, LAMA3, COL2A1, SHH

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, GREENBERG SKELETAL DYSPLASIA, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PARAGANGLIOMAS 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYHRE SYNDROME, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 16, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, PROTEUS SYNDROME, SOMATIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1

NDUFS3, NDUFB3, SCO2, NDUFAF6, NDUFA11, SMAD4, MT-ND6, SDHD, LBR, SURF1, SDHA, AKT1, NDUFAF2, NDUFA1, NDUFA12, ETFB, MT-CO2, SCO1, NDUFS4, COX14, NDUFV2, ETFA, NDUFB9, NDUFS1, NDUFAF4, LRPPRC, COX6B1, ATP5A1, SDHC, MT-ND1, TACO1, MT-ATP6, NDUFS8, NDUFS2, MT-CO3, COX20, MT-ND3, NDUFA2, NDUFS6, NDUFA9, NDUFAF5, COX8A, MT-ND5, NDUFAF3, MT-CO1, NDUFA10, ETFDH, NDUFS7, NDUFV1

THANATOPHORIC DYSPLASIA, TYPE I, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, APLASIA OF LACRIMAL AND SALIVARY GLANDS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, OSTEOGLOPHONIC DYSPLASIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?RENAL HYPODYSPLASIA/APLASIA 2, THANATOPHORIC DYSPLASIA, TYPE II, ACHONDROPLASIA, SADDAN, IMMUNODEFICIENCY 36

NRAS, FGF10, FGFR1, KRAS, FGFR3, EGFR, HRAS, FGF20, PIK3R1

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, GELEOPHYSIC DYSPLASIA 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, MYHRE SYNDROME, CUTIS LAXA, AD, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, OSTEOGENESIS IMPERFECTA, TYPE III, RENAL ADYSPLASIA

LTBP4, COL1A2, EFEMP2, BMPER, CCND1, TGFB2, AGT, ITGA8, ACVR1, FBN1, ELN, COL1A1, EGFR, BMP2, FBLN5, SMAD4, LTBP2, FBN2, TGFB1, RUNX2, NOTCH1

{VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ACHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CROUZON SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, DUCHENNE MUSCULAR DYSTROPHY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?RENAL HYPODYSPLASIA/APLASIA 2, RHEUMATOID ARTHRITIS, COFFIN-SIRIS SYNDROME 1, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, AMYOTROPHIC LATERAL SCLEROSIS 19, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, APLASIA OF LACRIMAL AND SALIVARY GLANDS, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, ?IMMUNODEFICIENCY 22, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, RENAL TUBULAR DYSGENESIS, SADDAN, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 36, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, CSF2RB, F2, FGFR1, PLEC, GJA1, ERBB3, NRAS, LAMTOR2, SMAD4, IL10, TNF, TGFB1, NOTCH1, JAK3, KRAS, AGT, DMD, VHL, HES7, LEP, FGF20, MUSK, EDN1, CDKN1B, FGFR2, SMARCE1, CCND1, CBL, IL2RA, JAK2, HLA-DRB1, PDGFRA, IKBKB, NCF1, AKT1, HRAS, EGFR, KCNQ2, GPD1L, ERBB4, FGFR3, BDNF, HSPG2, FGF10, STAT3, SHH, ACE, IL2RG, RUNX2, SF3B4, NFKB2, PIK3R1

GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, PROTEUS SYNDROME, SOMATIC

NCF1, CYBA, CYBB, NCF2, AKT1, NCF4

IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, ?RENAL HYPODYSPLASIA/APLASIA 2, SADDAN, IMMUNODEFICIENCY 35, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, RENAL TUBULAR DYSGENESIS, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OPSISMODYSPLASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, IMMUNODEFICIENCY 36, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYHRE SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, CSF2RB, ACE, CAV1, STAT1, FGFR1, PLEC, GJA1, ERBB3, NCF1, BLNK, IL7R, SMAD4, SQSTM1, TNF, TGFB1, NOTCH1, JAK3, FGFR2, KRAS, FLNA, AGT, BCL10, DMD, HLA-DRB1, NFKB1, HES7, LEP, HRAS, PIK3CD, MUSK, AKT1, BTK, CDKN1B, INPPL1, B2M, SMARCE1, CCND1, IL10, IL2RA, JAK2, TAP1, PDGFRA, LAMTOR2, EPOR, IKBKB, DCTN1, CBL, FGFR3, F2, HSPD1, EDN1, FGF20, CD19, EGFR, KCNQ2, GPD1L, ERBB4, IL1RN, BDNF, NRAS, HSPG2, FGF10, STAT3, CASP8, SHH, TYK2, IL2RG, RUNX2, SF3B4, NFKB2, PIK3R1

SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, FIBROCHONDROGENESIS 2, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ?MYOSCLEROSIS, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FRONTOMETAPHYSEAL DYSPLASIA, SED CONGENITA, KNIEST DYSPLASIA, CUTIS LAXA, AD, GELEOPHYSIC DYSPLASIA 2, LARYNGOONYCHOCUTANEOUS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 19, EHLERS-DANLOS SYNDROME, TYPE IV, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BETHLEM MYOPATHY 1, TUBEROUS SCLEROSIS 2, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYOPATHY, MYOFIBRILLAR, 5, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, CEROID LIPOFUSCINOSIS, NEURONAL, 10, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DONNAI-BARROW SYNDROME, PROTEUS SYNDROME, SOMATIC

TUFM, SOX9, PRSS2, F2, FBLN5, PRSS1, ELN, SMAD4, COL6A2, TNF, TGFB1, COL3A1, FLNA, DAG1, AGT, COL11A2, VHL, COL5A1, BMP2, COL5A2, PLG, FBN2, DDR2, COL6A1, CCND1, IFNG, LRP2, FBN1, COL1A1, FLNC, COL1A2, AKT1, NOTCH1, EGFR, BMPER, COL13A1, PTEN, HSPG2, LAMA3, STAT3, COL2A1, COL6A3, RUNX2, CTSD, SHH

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

MCCC1, HLCS, PCCB, BTD, PCCA, MCCC2

{ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], BETHLEM MYOPATHY 1, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, TIMOTHY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, DYSTONIA 27, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, INSOMNIA, FATAL FAMILIAL, ?MYOSCLEROSIS, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE IV, OSTEOGENESIS IMPERFECTA, TYPE III, RENAL ADYSPLASIA, SED CONGENITA, KNIEST DYSPLASIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1

GDNF, COL6A3, RET, COL6A1, TNF, AGRN, COL5A1, CACNA1C, SELP, PTEN, COL1A2, COL2A1, COL6A2, COL3A1, PRNP, EGR2, COL5A2

FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, TUBEROUS SCLEROSIS 2, LEUKODYSTROPHY, HYPOMYELINATING, 4, IMMUNODEFICIENCY 43, ?IMMUNODEFICIENCY 22, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?IMMUNODEFICIENCY 37, RHEUMATOID ARTHRITIS, OPITZ GBBB SYNDROME, TYPE I, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?IMMUNODEFICIENCY 39, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R

LCK, STAT1, RPL5, B2M, CBL, HSPD1, IRF7, HLA-G, HLA-DRB1, MID1, TNF, BDNF, TRIM2, IRF5, JAK2, SQSTM1, CIITA, IFNG, BCL10

BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, THANATOPHORIC DYSPLASIA, TYPE I, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, SELECTIVE T-CELL DEFECT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, PANCREATIC AND CEREBELLAR AGENESIS, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, VACTERL ASSOCIATION, X-LINKED, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MYOPATHY, TUBULAR AGGREGATE, 1, HERMANSKY-PUDLAK SYNDROME 1, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRASER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DUANE-RADIAL RAY SYNDROME, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, PITT-HOPKINS SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, SADDAN, INSOMNIA, FATAL FAMILIAL, CORNELIA DE LANGE SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, FEINGOLD SYNDROME, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RIGHT ATRIAL ISOMERISM, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, CENTRONUCLEAR MYOPATHY 5, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], ?RENAL HYPODYSPLASIA/APLASIA 2, PRIMARY PULMONARY HYPERTENSION, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PSEUDOHYPOALDOSTERONISM, TYPE I, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BETHLEM MYOPATHY 1, OPSISMODYSPLASIA, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, SMITH-LEMLI-OPITZ SYNDROME, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, BEARE-STEVENSON CUTIS GYRATA SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, DYSTONIA 27, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, TIMOTHY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ATAXIA-TELANGIECTASIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?MYOSCLEROSIS, CONGENITAL, IMMUNODEFICIENCY 8, SED CONGENITA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, PULMONARY VENOOCCLUSIVE DISEASE 1, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, TUBEROUS SCLEROSIS-1, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MYASTHENIC SYNDROME, CONGENITAL, 16, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?IMMUNODEFICIENCY 13, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, PARAMYOTONIA CONGENITA, OPITZ-KAVEGGIA SYNDROME, VELOCARDIOFACIAL SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, CEREBELLOFACIODENTAL SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HETEROTAXY, VISCERAL, 2, AUTOSOMAL, AGAMMAGLOBULINEMIA 4, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE IV, MYHRE SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, RENAL ADYSPLASIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AGAMMAGLOBULINEMIA 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, WISKOTT-ALDRICH SYNDROME, PALLISTER-HALL SYNDROME, TUMOR PREDISPOSITION SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

CAV1, KMT2A, NCF1, ADRB2, CIITA, COL3A1, EFTUD2, F2, AGT, COL5A1, ASCC1, EDN1, ITGA8, TRIP4, B2M, COL6A1, EGR2, SALL4, BAG3, COL1A1, DNM2, FLNC, NCF4, BMPER, POR, AGRN, TBK1, COL2A1, IL2RG, BAP1, SF3B4, PTEN, ACTA1, ACE, SCN4A, ACVR1, KRAS, NFKB2, ERBB3, IL10, SCNN1G, CREBBP, COL6A2, CD79A, NOTCH1, MYCN, PTF1A, DAG1, TNF, RYR1, FGFR1, SCNN1A, LEP, COL1A2, CFL2, NFKBIA, AIFM1, CBL, SMARCE1, CNTNAP1, CCND1, JAK2, STAT1, ZIC3, MPZ, GDNF, GDF1, SPEG, BDNF, CNTN1, STAT3, TBX1, PCK1, PAX8, KCNA5, PTCH1, CAV3, STIM1, UNC119, ALPL, PQBP1, GJA1, IL2RA, CSF2RB, BLNK, SMAD4, CDK5, F13A1, SMAD9, HLA-DRB1, GRIP1, CASR, NKX2-1, DMD, SOX9, VHL, HES7, USP9X, BMP2, FGF20, HFE2, AKT1, SCN4B, PLEC, INPPL1, PRKDC, MRPL3, DTNBP1, MED12, EGFR, ATP1A3, IKBKB, DCTN1, SCN2A, GLI3, ITCH, KCNQ2, ERBB4, FGFR3, MUSK, HAMP, BTK, TUBB4A, COL6A3, CFC1, RUNX2, SELP, LCK, NRAS, FLNA, CORO1A, ZAP70, BIN1, DHCR7, ASCL1, PRNP, TGFB1, COL5A2, SCN5A, JAK3, BRF1, FGF10, NFKB1, WAS, CACNA1C, TCF4, PLG, ATM, FGFR2, PLCG2, PTPRC, PIK3R1, CDKN1B, PIP5K1C, PDGFRA, LAMTOR2, FBN1, RET, HRAS, LRP2, DNMT3B, OCLN, MYH11, HSPG2, TSC1, BMPR2, TINF2, GATA2, SHH

BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACHONDROPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, THANATOPHORIC DYSPLASIA, TYPE I, CROUZON SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 14, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, RENAL TUBULAR DYSGENESIS, COFFIN-SIRIS SYNDROME 1, IMMUNODEFICIENCY 19, AMYOTROPHIC LATERAL SCLEROSIS 19, AGAMMAGLOBULINEMIA 1, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TUBEROUS SCLEROSIS 2, APERT SYNDROME, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, APLASIA OF LACRIMAL AND SALIVARY GLANDS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, ?RENAL HYPODYSPLASIA/APLASIA 2, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, SADDAN, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

FGFR2, LCK, ACE, FGFR1, GJA1, ERBB3, NRAS, CD3D, SQSTM1, TNF, TGFB1, NOTCH1, IGHM, CCND1, AGT, BCL10, NFKB2, NFKB1, CD19, CD3E, CDKN1B, LEP, FGF20, PIK3CD, AKT1, JAK2, PRKDC, TSC2, SMARCE1, CARD11, CBL, NFKBIA, PDGFRA, BDNF, PTEN, HRAS, EGFR, KRAS, ERBB4, FGFR3, IKBKB, FGF10, STAT3, EPOR, PIK3R1

HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, GAUCHER DISEASE, PERINATAL LETHAL, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, FARBER LIPOGRANULOMATOSIS, COENZYME Q10 DEFICIENCY, PRIMARY, 7, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, AURICULOCONDYLAR SYNDROME 3, PROPIONICACIDEMIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, GLUTAMINE DEFICIENCY, CONGENITAL, CEREBROTENDINOUS XANTHOMATOSIS, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, VLCAD DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ?IMMUNODEFICIENCY 22, GREENBERG SKELETAL DYSPLASIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, CROUZON SYNDROME, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, RUBINSTEIN-TAYBI SYNDROME, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, URBACH-WIETHE DISEASE, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, TRIFUNCTIONAL PROTEIN DEFICIENCY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, MYOPATHY, MYOFIBRILLAR, 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, COMBINED SAP DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 5, SMITH-LEMLI-OPITZ SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, GAUCHER DISEASE, TYPE I, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, NON-IMMUNE HYDROPS FETALIS, OSTEOGLOPHONIC DYSPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, ATAXIA-TELANGIECTASIA, MYASTHENIC SYNDROME, CONGENITAL, 5, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, IMMUNODEFICIENCY 8, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, NIEMANN-PICK DISEASE, TYPE A, RESTRICTIVE DERMOPATHY, LETHAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CHILD SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HEMOCHROMATOSIS TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, JOUBERT SYNDROME-3, KRABBE DISEASE, ATYPICAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CPT DEFICIENCY, HEPATIC, TYPE II, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PEELING SKIN SYNDROME 1, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, OPITZ-KAVEGGIA SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, SICKLE CELL ANEMIA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, APERT SYNDROME, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, IMMUNODEFICIENCY 36, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CPT II DEFICIENCY, LETHAL NEONATAL, GAUCHER DISEASE, TYPE II, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

LMNA, CAV1, HBB, ASAH1, KMT2A, COQ9, NCF1, ADRB2, CPT2, LBR, CYP27A1, RPL5, AGT, PCCB, TAF6, CDK5, COLQ, NSDHL, SMPD1, MYH7, STK11, CFL2, SLC25A1, COL1A1, NEU1, DES, COQ7, NCF4, POR, HADHA, SMAD4, CREBBP, ECM1, PTEN, NUBPL, ACTA1, ACE, KRAS, COPA, CASP8, EGFR, COQ4, PGM1, SQSTM1, NFKBIA, GLUL, DAG1, TNF, CORO1A, FGFR1, PRKAG2, TARDBP, PIK3CD, GFPT1, JAK2, PLOD1, CBL, CCND1, IFNG, EBP, ELOVL4, NDUFS2, HSPD1, FCGR2B, ACADVL, TP63, CAV3, GLB1, HEXA, GJA1, NDUFS3, INPP5E, STAT1, GMPPB, CASR, LEP, CTSD, ALOX5, BMP2, NDN, AKT1, INPPL1, HADHB, PRKDC, MRPL3, CFTR, ETFA, SEC63, LIPA, CDSN, EDN1, ARSB, PEX5, ECHS1, MTM1, RUNX2, AHI1, LCK, SSR4, LRP5, PSAP, B2M, JAGN1, DHCR7, TGFB1, ATM, PIP5K1C, REN, STAT3, MT-CO2, NOTCH1, NDUFS4, PCCA, MED12, IL13, FGFR2, GBA, GLA, FLNC, CHAT, TUFM, HRAS, LRP2, SELP, SLC25A20, HSPG2, PEX7, PIK3R1, TINF2, KIF1BP, GPD1L, MMAA, SHH

PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ATAXIA-TELANGIECTASIA, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUCOPOLYSACCHARIDOSIS IH/S, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MUCOPOLYSACCHARIDOSIS, MPS-III-A, NON-IMMUNE HYDROPS FETALIS, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SED CONGENITA, KNIEST DYSPLASIA, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS IS, 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, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ACHONDROGENESIS IB, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, PULMONARY HYPERTENSION, PRIMARY, 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, LOEYS-DIETZ SYNDROME 4, MUCOPOLYSACCHARIDOSIS IVA, PROTEUS SYNDROME, SOMATIC

GPC3, TGFB2, SLC26A2, SDHD, B3GAT3, IDS, CHST14, NOTCH1, ATM, RPL5, CAV1, GUSB, TNF, TGFB1, HEXA, MUC7, IDUA, HGSNAT, NAGLU, GLB1, AGRN, LRP2, NEU1, AKT1, GALNS, SGSH, EGFR, DAG1, GNS, HSPG2, COL2A1, ARSB

SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FIBROCHONDROGENESIS 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OSTEOGENESIS IMPERFECTA, TYPE II, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?MYOSCLEROSIS, CONGENITAL, ?OSTEOGENESIS IMPERFECTA, TYPE X, SED CONGENITA, EHLERS-DANLOS SYNDROME, TYPE VI, KNIEST DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIC, MYASTHENIC SYNDROME, CONGENITAL, 19, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BETHLEM MYOPATHY 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, EHLERS-DANLOS SYNDROME, TYPE IV, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

SOX9, DDR2, COL1A1, COL6A2, CD79A, COL5A2, CIITA, COL11A2, COL5A1, BMP2, COL1A2, COL6A3, SERPINH1, PLOD1, B2M, COL6A1, COL3A1, TGFB1, AKT1, ADAMTS2, COL13A1, COL2A1, PIK3R1

IMMUNODEFICIENCY 15, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, SELECTIVE T-CELL DEFECT, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, IMMUNODEFICIENCY 43, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, WISKOTT-ALDRICH SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, CD3D, CBL, BCL10, HLA-DRB1, CD3G, NFKB1, CD3E, AKT1, B2M, CARD11, NFKBIA, ITCH, IKBKB, EGFR, PTEN, ZAP70, TBK1, WAS, PTPRC, PIK3R1

TRIFUNCTIONAL PROTEIN DEFICIENCY, PROPIONICACIDEMIA, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, VLCAD DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, METHYLMALONIC ACIDURIA CBLB TYPE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, PROTEUS SYNDROME, SOMATIC

MMAA, PCCB, ETFA, ECHS1, ACADVL, AKT1, HADHA, PCCA, HADHB

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, PARAGANGLIOMAS 3, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 16, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SMITH-LEMLI-OPITZ SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1

NDUFS3, NDUFB3, SCO2, NDUFAF6, NDUFA11, NDUFA12, MT-ND6, SDHD, DHCR7, SURF1, SDHA, NDUFAF2, NDUFA1, TPM3, MT-CO2, SCO1, NDUFS4, NDUFV2, ETFA, NDUFB9, NDUFS1, NDUFAF4, LRPPRC, COX6B1, NDUFS6, SDHC, MT-ND1, TACO1, NDUFAF3, NDUFS8, NDUFS2, MT-CO3, COX20, ETFDH, NDUFA2, NDUFA9, NDUFAF5, COX8A, MT-ND5, COX14, MT-CO1, NDUFA10, MT-ND3, NDUFS7, ETFB, NDUFV1

IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ?IMMUNODEFICIENCY 37, RHEUMATOID ARTHRITIS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?IMMUNODEFICIENCY 22, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, PROTEUS SYNDROME, SOMATIC

LCK, HLA-DRB1, CD3G, CARD11, NFKBIA, CD3D, NFKB1, B2M, CD3E, IKBKB, AKT1, BCL10, PTEN, PIK3R1

BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACHONDROPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, THANATOPHORIC DYSPLASIA, TYPE I, CROUZON SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, COFFIN-SIRIS SYNDROME 1, AMYOTROPHIC LATERAL SCLEROSIS 19, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, TUBEROUS SCLEROSIS 2, APLASIA OF LACRIMAL AND SALIVARY GLANDS, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY, COMMON VARIABLE, 3, SADDAN, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

LCK, TSC2, ERBB3, TNF, TGFB1, NOTCH1, AGT, FGFR1, CD19, LEP, FGF20, PIK3CD, AKT1, FGFR2, SMARCE1, CDKN1B, PDGFRA, BDNF, HRAS, EGFR, PTEN, FGFR3, FGF10, ERBB4, PIK3R1

{VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, NON-IMMUNE HYDROPS FETALIS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, SHPRINTZEN-GOLDBERG SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AMYOTROPHIC LATERAL SCLEROSIS 19, CROUZON SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, IMMUNODEFICIENCY 14, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, AGAMMAGLOBULINEMIA 1, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, FRONTOMETAPHYSEAL DYSPLASIA, ?TETRA-AMELIA SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?RENAL HYPODYSPLASIA/APLASIA 2, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, IMMUNODEFICIENCY 19, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, APERT SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, BEARE-STEVENSON CUTIS GYRATA SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TUBEROUS SCLEROSIS 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, POLYCYSTIC LIVER DISEASE, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, IMMUNODEFICIENCY 36, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, DYSAUTONOMIA, FAMILIAL, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, MEIER-GORLIN SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SADDAN, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, TSC2, FLNA, SHH, FZD6, ERBB3, SOX9, SMAD4, CD3E, SQSTM1, TNF, TGFB1, WNT3, NOTCH1, TAP1, KRAS, LRP5, AGT, SMAD9, GJA1, GRIP1, FGFR1, STAT3, CDK5, RAPSN, LEP, RANBP2, HRAS, PIK3CD, AKT1, BMP2, JAK2, BTK, FGFR2, SMARCE1, CCND1, CBL, CDKN1B, IGHM, STAT1, PDGFRA, NRAS, LRP2, BDNF, CDT1, CTLA4, EDN1, FGF20, CD19, EGFR, STRA6, POR, GPD1L, PTEN, CD3D, FGFR3, CREBBP, HSPG2, FGF10, TP63, AMER1, PIK3R1, IKBKAP, RUNX2, PORCN, ERBB4, SKI

SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FIBROCHONDROGENESIS 2, HYPER-IGE RECURRENT INFECTION SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, LARYNGOONYCHOCUTANEOUS SYNDROME, CUTIS LAXA, AD, RHEUMATOID ARTHRITIS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BETHLEM MYOPATHY 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, IMMUNODEFICIENCY 43, KNIEST DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE IV, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DONNAI-BARROW SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4

COL3A1, SOX9, PLEC, COL1A1, COL6A2, CIITA, COL1A2, FBLN5, LAMA3, COL11A2, COL5A1, BMP2, COL5A2, COL6A1, DDR2, B2M, COL6A3, CCND1, DST, ELN, TUFM, LRP2, TNF, STAT3, COL2A1, RUNX2

MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, NON-IMMUNE HYDROPS FETALIS, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS IS, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, MUCOPOLYSACCHARIDOSIS II, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MUCOPOLYSACCHARIDOSIS IH/S, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MUCOPOLYSACCHARIDOSIS, MPS-III-A

SGSH, NAGLU, GLB1, AGRN, HSPG2, HGSNAT, NEU1, GPC3, GUSB, IDS, IDUA

MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), NON-IMMUNE HYDROPS FETALIS, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS IS, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS IH/S, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MUCOPOLYSACCHARIDOSIS IVA, MUCOPOLYSACCHARIDOSIS, MPS-III-A, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME

SGSH, ARSB, GLB1, NAGLU, GNS, GUSB, SMAD4, HGSNAT, NEU1, IDUA, IDS, GALNS

IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, ?RENAL HYPODYSPLASIA/APLASIA 2, SADDAN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, RENAL TUBULAR DYSGENESIS, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, IMMUNODEFICIENCY 19, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 36, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYHRE SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY, COMMON VARIABLE, 3, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, CSF2RB, SH2B3, FLNA, CD3D, FGFR1, PLEC, GJA1, ERBB3, NCF1, FGFR2, LAMTOR2, SMAD4, SQSTM1, TNF, TGFB1, NOTCH1, RPL5, IRF7, KRAS, F2, AGT, CIITA, DMD, HLA-DRB1, NFKB1, STAT3, CD3E, LEP, TSC2, FGF20, PIK3CD, IL2RA, MUSK, AKT1, CDKN1B, INPPL1, B2M, SMARCE1, TAP1, CCND1, IL10, WAS, JAK2, STAT1, PDGFRA, IKBKB, GPD1L, CBL, CTLA4, EDN1, HRAS, CD19, ERBB4, EGFR, KCNQ2, RUNX2, PTEN, HES7, FGFR3, BDNF, NRAS, JAK3, HSPG2, FGF10, TSC1, SHH, ACE, IL2RG, DYNC2H1, SF3B4, NFKB2, PIK3R1

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, MELNICK-NEEDLES SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AMYOTROPHIC LATERAL SCLEROSIS 19, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, VLCAD DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, FEINGOLD SYNDROME, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, FILS SYNDROME, JOUBERT SYNDROME 5, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, RHEUMATOID ARTHRITIS, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), LETHAL CONGENITAL CONTRACTURE SYNDROME 1, PRADER-WILLI SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, DIAMOND-BLACKFAN ANEMIA 10, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, RIDDLE SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, 3-M SYNDROME 1, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, NESTOR-GUILLERMO PROGERIA SYNDROME, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY, CONGENITAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, ATAXIA-TELANGIECTASIA, NIEMANN-PICK DISEASE, TYPE C2, MYASTHENIC SYNDROME, CONGENITAL, 5, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, GELEOPHYSIC DYSPLASIA 1, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIC, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, IMMUNODEFICIENCY, COMMON VARIABLE, 13, IMMUNODEFICIENCY 23, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, POLYCYSTIC LIVER DISEASE, BLOOM SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, ASPARAGINE SYNTHETASE DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, RESTRICTIVE DERMOPATHY, LETHAL, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, MYOPATHY, MYOFIBRILLAR, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYHRE SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CROUZON SYNDROME, DYSAUTONOMIA, FAMILIAL, SIALURIA, TUMOR PREDISPOSITION SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 2, 2-METHYLBUTYRYLGLYCINURIA, HYPOMYELINATION, GLOBAL CEREBRAL, IMMUNODEFICIENCY 36, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

TSC2, CAV1, PROS1, LMNA, COL1A1, PIGT, CIITA, COL1A2, RPL5, F2, AGT, MUC5B, TAF6, CDK5, COLQ, EDN1, GJA1, BTK, IKZF1, FBN1, IL10, RANBP2, WT1, ARSB, NEU1, DES, NCF4, SERPING1, CREBBP, IL13, IKBKAP, CUL7, SF3B4, ERBB4, ACTA1, ACE, PRSS2, SDHD, ACVR1, KRAS, ERBB3, CBL, SERPINA1, PLA2G7, NOTCH1, MYCN, TNF, EDNRA, MOGS, COPA, GFPT1, JAK2, EXOSC8, AIFM1, PROC, CCND1, THSD1, IFNG, TAP1, SSR4, NKX2-1, HSPD1, BAP1, FKBP14, ADAMTS2, EFTUD2, PIGC, ACTA2, ACADVL, ADAMTSL2, PTPRC, PAM16, NFKB2, TUFM, BANF1, GLB1, REN, TNPO3, SERPINC1, SCO2, SMAD4, AGTR1, RPS28, SMAD9, CEP290, STAT1, GMPPB, FLNA, CASR, LEP, CTSD, VHL, ASCC1, BCS1L, BMP2, NDN, AKT1, EIF2AK4, PRKDC, DTNBP1, RPS26, SEC63, EGFR, PGM3, IKBKB, DCTN1, ADAMTS13, MUC7, DPM2, DNMT3B, ACADSB, GNE, PTEN, ECHS1, HAMP, NPC2, TUBB4A, STAT3, RUNX2, SELP, LCK, GLE1, PIGN, ASNS, ZAP70, BIN1, B2M, RNF168, DPM1, PRKCSH, TGFB1, RFT1, ATM, CFTR, AP3B1, FGF10, NFKB1, TP63, MT-CO2, CARD11, PLG, POLE, BLM, FGFR2, CDKN1B, PARN, CRYAB, ATP5A1, DPAGT1, GALNT14, SNAP25, HRAS, EXOSC3, MPDU1, EPOR, MYH11, SLC25A12, HSPG2, EXOC8, PIK3R1, TINF2, HFE, GPD1L, SHH

BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, IMMUNODEFICIENCY 14, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MYHRE SYNDROME, CROUZON SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, APERT SYNDROME, APLASIA OF LACRIMAL AND SALIVARY GLANDS, IMMUNODEFICIENCY 36, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?RENAL HYPODYSPLASIA/APLASIA 2, SADDAN, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

FGFR2, STAT1, LEP, FGF10, FGFR1, KRAS, FGFR3, SMAD4, NRAS, FGF20, STAT3, PIK3R1, PIK3CD, AKT1, HRAS

IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?RENAL HYPODYSPLASIA/APLASIA 2, SADDAN, INSOMNIA, FATAL FAMILIAL, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY, COMMON VARIABLE, 10, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], RENAL TUBULAR DYSGENESIS, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BETHLEM MYOPATHY 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, TIMOTHY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, DUCHENNE MUSCULAR DYSTROPHY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, EHLERS-DANLOS SYNDROME, TYPE IV, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, RENAL ADYSPLASIA, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DYSTONIA 27, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, CSF2RB, ACE, COL6A2, F2, FGFR1, PLEC, NFKB2, ERBB3, NCF1, COL1A1, LAMTOR2, SMAD4, NOTCH1, COL5A2, PRNP, TNF, TGFB1, COL3A1, SELP, JAK3, KRAS, DAG1, AGT, DMD, HLA-DRB1, VHL, BMP2, COL5A1, CACNA1C, LEP, CDKN1B, NCF4, COL6A1, EDN1, CBL, JAK2, GJA1, FGFR2, SMARCE1, COL6A3, CCND1, IL10, IL2RA, AGRN, ERBB4, PDGFRA, BDNF, ATP1A3, RET, GDNF, EGR2, AKT1, HRAS, COL1A2, EGFR, KCNQ2, GPD1L, PTEN, HES7, FGFR3, MUSK, NRAS, IKBKB, HSPG2, FGF10, STAT3, SHH, COL2A1, IL2RG, FGF20, RUNX2, SF3B4, RYR1, PIK3R1

COACH SYNDROME, JOUBERT SYNDROME 5, ALSTROM SYNDROME, PERRY SYNDROME, JOUBERT SYNDROME 6, MECKEL SYNDROME 1, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, JOUBERT SYNDROME 18, JOUBERT SYNDROME 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, JOUBERT SYNDROME 15, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, NEPHRONOPHTHISIS 2, INFANTILE, JOUBERT SYNDROME 7, JOUBERT SYNDROME-3, BARDET-BIEDL SYNDROME 16, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY

TMEM67, CC2D2A, CFTR, OFD1, TMEM216, ALMS1, PEX5, TCTN3, CEP41, MKS1, RPGRIP1L, DCTN1, AHI1, TUBB4A, CEP290, TCTN1, TCTN2, CEP57, INVS, SDCCAG8

BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACHONDROPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, THANATOPHORIC DYSPLASIA, TYPE I, AMYOTROPHIC LATERAL SCLEROSIS 19, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, COFFIN-SIRIS SYNDROME 1, CROUZON SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, APLASIA OF LACRIMAL AND SALIVARY GLANDS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY, COMMON VARIABLE, 3, SADDAN, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

LCK, ERBB3, TNF, TGFB1, NOTCH1, AGT, FGFR1, CD19, LEP, HRAS, PIK3CD, AKT1, FGFR2, SMARCE1, PDGFRA, BDNF, FGF20, EGFR, ERBB4, FGFR3, FGF10, PTEN, PIK3R1

IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, SADDAN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?RENAL HYPODYSPLASIA/APLASIA 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, IMMUNODEFICIENCY 19, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, TUBEROUS SCLEROSIS 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, CSF2RB, F2, CD3D, FGFR1, PLEC, GJA1, ERBB3, CAV3, FGFR2, LAMTOR2, SMAD4, PTEN, ADCY6, PLCG2, SQSTM1, TNF, TGFB1, NOTCH1, RPL5, IRF7, KRAS, CFTR, AGT, DMD, HLA-DRB1, NFKB1, STAT3, CD3E, LEP, TSC2, HRAS, PIK3CD, IL2RA, MUSK, AKT1, CDKN1B, BTK, B2M, SMARCE1, TAP1, CCND1, IL10, WAS, JAK2, JAK3, PDGFRA, IKBKB, GPD1L, CBL, FGFR3, NCF1, CTLA4, EDN1, FGF20, CD19, EGFR, KCNQ2, RUNX2, ERBB4, HES7, ZAP70, BDNF, NRAS, HSPG2, FGF10, TSC1, SHH, ACE, IL2RG, DYNC2H1, SF3B4, NFKB2, PIK3R1

SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FIBROCHONDROGENESIS 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OSTEOGENESIS IMPERFECTA, TYPE II, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DUCHENNE MUSCULAR DYSTROPHY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, SED CONGENITA, LARYNGOONYCHOCUTANEOUS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BETHLEM MYOPATHY 1, PITT-HOPKINS-LIKE SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, KNIEST DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE IV, IMMUNODEFICIENCY 36

COL3A1, DDR2, COL1A1, LAMA2, TGFB1, COL1A2, NRXN1, DAG1, LAMA3, DMD, VHL, COL5A1, COL5A2, COL6A1, AIFM1, AGRN, EGFR, HSPG2, TNF, PIK3R1, COL2A1, COL11A2, SHH

NON-IMMUNE HYDROPS FETALIS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, THANATOPHORIC DYSPLASIA, TYPE I, TUBEROUS SCLEROSIS-1, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, AMYOTROPHIC LATERAL SCLEROSIS 19, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, DUCHENNE MUSCULAR DYSTROPHY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, RENAL TUBULAR DYSGENESIS, RHEUMATOID ARTHRITIS, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, CROUZON SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MYOPATHY, MYOFIBRILLAR, 2, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], APERT SYNDROME, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PULMONARY HYPERTENSION, PRIMARY, 3, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, ?RENAL HYPODYSPLASIA/APLASIA 2, SADDAN, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 36, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, CSF2RB, RET, CAV1, FGFR1, CYBB, GJA1, ERBB3, NCF1, FGFR2, LAMTOR2, SMAD4, CYBA, PLEC, FGF20, TGFB1, NOTCH1, RPL5, FGF10, KRAS, F2, AGT, DMD, HLA-DRB1, NFKB1, TSC1, CDK5, LEP, NCF4, PLG, MUSK, AKT1, BMP2, CBL, CDKN1B, NEB, IL4R, SMARCE1, CCND1, IL10, IL2RA, JAK2, STAT1, CRYAB, IKBKB, PDGFRA, NCF2, FGFR3, GDNF, EDN1, HRAS, ERBB4, EGFR, KCNQ2, GPD1L, PTEN, HES7, F13A1, BDNF, NRAS, JAK3, HSPG2, TNF, STAT3, SHH, ACE, IL2RG, RUNX2, SF3B4, NFKB2, PIK3R1

OPSISMODYSPLASIA, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, PROPIONICACIDEMIA, DONNAI-BARROW SYNDROME, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, BIOTINIDASE DEFICIENCY, METHYLMALONIC ACIDURIA CBLB TYPE

CBL, CAV3, HLCS, PCCB, LRP2, MMAB, BTD, MCCC1, PCCA, MCCC2, MMAA, INPPL1

{SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, IMMUNODEFICIENCY 43, COMMON VARIABLE IMMUNODEFICIENCY 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RHEUMATOID ARTHRITIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TUBEROUS SCLEROSIS 2, IMMUNODEFICIENCY 36, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RENAL TUBULAR DYSGENESIS, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

LCK, ICOS, B2M, CD3G, CD3D, CBL, IFNG, HLA-DRB1, STAT1, CD3E, TNF, STAT3, PTPRC, AGT, JAK2, AKT1, CTLA4, PTEN, PIK3R1

NON-IMMUNE HYDROPS FETALIS, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ATAXIA-TELANGIECTASIA, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, OSTEOGENESIS IMPERFECTA, TYPE II, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE IC, MUCOPOLYSACCHARIDOSIS II, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, IMMUNODEFICIENCY 8, ARTS SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, GLYCOGEN STORAGE DISEASE II, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), INTERSTITIAL LUNG AND LIVER DISEASE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, MUCOPOLYSACCHARIDOSIS IH, SED CONGENITA, KNIEST DYSPLASIA, TRANSALDOLASE DEFICIENCY, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, OSTEOGLOPHONIC DYSPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUCOPOLYSACCHARIDOSIS IS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MUCOPOLYSACCHARIDOSIS IH/S, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, AGAMMAGLOBULINEMIA, X-LINKED 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ACHONDROGENESIS IB, MUCOPOLYSACCHARIDOSIS TYPE IIID, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, MUCOPOLYSACCHARIDOSIS, MPS-III-A, HYPOMYELINATION, GLOBAL CEREBRAL, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, PULMONARY HYPERTENSION, PRIMARY, 3, NESTOR-GUILLERMO PROGERIA SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MUCOPOLYSACCHARIDOSIS IVA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PROTEUS SYNDROME, SOMATIC

CAV3, BANF1, SGSH, TGFB2, FGFR1, SLC26A2, PRPS1, NCF1, COL1A1, EGFR, SMAD4, INPPL1, GAA, SDHD, GPC3, B3GAT3, IDS, PGM1, NOTCH1, ARSB, TAP1, CAV1, GUSB, LEP, TNF, TGFB1, CORO1A, NFKB1, HEXA, MARS, BMP2, RANBP2, NCF4, PLG, AKT1, BTK, EGR2, TPI1, ATM, SLC25A1, HGSNAT, NAGLU, GLB1, AGRN, RPL5, ZMPSTE24, LRP2, TALDO1, NEU1, IDUA, MUC7, GALNS, SLC37A4, DAG1, GNS, IFNG, FBP1, SLC25A12, HSPG2, TSR2, G6PC3, COL2A1, CHST14, PCK1

{VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AMYOTROPHIC LATERAL SCLEROSIS 19, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, DUCHENNE MUSCULAR DYSTROPHY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?RENAL HYPODYSPLASIA/APLASIA 2, RHEUMATOID ARTHRITIS, COFFIN-SIRIS SYNDROME 1, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, CROUZON SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MYOPATHY, MYOFIBRILLAR, 2, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, APLASIA OF LACRIMAL AND SALIVARY GLANDS, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, ?IMMUNODEFICIENCY 22, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, RENAL TUBULAR DYSGENESIS, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, SADDAN, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 36, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, CSF2RB, FLNA, FGFR1, PLEC, GJA1, ERBB3, NRAS, LAMTOR2, SMAD4, IL10, TNF, TGFB1, NOTCH1, STAT1, KRAS, F2, AGT, DMD, HLA-DRB1, VHL, HES7, LEP, FGF20, MUSK, EDN1, CDKN1B, FGFR2, SMARCE1, CCND1, CBL, IL2RA, JAK2, JAK3, CRYAB, IKBKB, PDGFRA, NCF1, AKT1, HRAS, EGFR, KCNQ2, GPD1L, ERBB4, FGFR3, BDNF, HSPG2, FGF10, STAT3, SHH, ACE, IL2RG, RUNX2, SF3B4, NFKB2, PIK3R1

SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FIBROCHONDROGENESIS 2, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, DYSTONIA 27, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 19, EHLERS-DANLOS SYNDROME, TYPE IV, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BETHLEM MYOPATHY 1, CEROID LIPOFUSCINOSIS, NEURONAL, 10, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

COL6A3, COL3A1, PRSS2, COL6A1, COL13A1, COL11A2, VHL, BMP2, COL1A1, TNF, STAT3, COL5A1, COL5A2, COL2A1, COL6A2, COL1A2, CTSD, TGFB1, DDR2, NOTCH1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MUCOPOLYSACCHARIDOSIS, MPS-III-A, NON-IMMUNE HYDROPS FETALIS, TRIMETHYLAMINURIA, DONNAI-BARROW SYNDROME, MUCOPOLYSACCHARIDOSIS II, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), METHYLMALONIC ACIDURIA CBLB TYPE, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS IS, MUCOPOLYSACCHARIDOSIS IH/S, HYPERPARATHYROIDISM, NEONATAL, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), OPSISMODYSPLASIA, PROPIONICACIDEMIA, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, BIOTINIDASE DEFICIENCY, MUCOPOLYSACCHARIDOSIS IVA, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, CEREBROTENDINOUS XANTHOMATOSIS, PROTEUS SYNDROME, SOMATIC

CAV3, NEU1, HLCS, NDUFS3, MMAB, FMO3, CYP27A1, GNS, RPL5, GLB1, CASR, TNF, IDS, PCCB, MT-CO2, LEP, BTD, PCCA, MCCC2, IDUA, CBL, MRPL3, NAGLU, LRP2, SGSH, AKT1, GALNS, MCCC1, GUSB, POR, MMAA, SMAD4, INPPL1, HGSNAT, TUFM, ARSB

HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, CUTIS LAXA, AD, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, IMMUNODEFICIENCY 43, OSTEOGENESIS IMPERFECTA, TYPE III, RENAL TUBULAR DYSGENESIS

B2M, CCND1, AGT, TGFB1, ELN, BMP2, COL1A1, CIITA, COL1A2

SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?IMMUNODEFICIENCY 22

LCK, HLA-DRB1, CD3G, CD3D, B2M, CD3E, PTPRC

IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, ?RENAL HYPODYSPLASIA/APLASIA 2, SADDAN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, RENAL TUBULAR DYSGENESIS, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, IMMUNODEFICIENCY 19, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, TUBEROUS SCLEROSIS 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, CSF2RB, F2, CD3D, FGFR1, PLEC, GJA1, ERBB3, CAV3, FGFR2, LAMTOR2, SMAD4, PTEN, ADCY6, PLCG2, SQSTM1, TNF, TGFB1, NOTCH1, RPL5, IRF7, KRAS, CFTR, AGT, CIITA, DMD, HLA-DRB1, NFKB1, STAT3, CD3E, LEP, TSC2, HRAS, PIK3CD, IL2RA, MUSK, AKT1, CDKN1B, BTK, B2M, SMARCE1, TAP1, CCND1, IL10, WAS, JAK2, JAK3, PDGFRA, IKBKB, GPD1L, CBL, FGFR3, NCF1, CTLA4, EDN1, FGF20, CD19, EGFR, KCNQ2, RUNX2, ERBB4, HES7, ZAP70, BDNF, NRAS, HSPG2, FGF10, TSC1, SHH, ACE, IL2RG, DYNC2H1, SF3B4, NFKB2, PIK3R1

SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FIBROCHONDROGENESIS 2, HYPER-IGE RECURRENT INFECTION SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, DONNAI-BARROW SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?MYOSCLEROSIS, CONGENITAL, ?OSTEOGENESIS IMPERFECTA, TYPE X, SED CONGENITA, EHLERS-DANLOS SYNDROME, TYPE VI, KNIEST DYSPLASIA, CUTIS LAXA, AD, EHLERS-DANLOS SYNDROME, TYPE VIIC, MYASTHENIC SYNDROME, CONGENITAL, 19, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BETHLEM MYOPATHY 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, LARYNGOONYCHOCUTANEOUS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, IMMUNODEFICIENCY 36, DYSTONIA 27, PROTEUS SYNDROME, SOMATIC

SOX9, PLEC, ELN, SERPINH1, COL6A2, CD79A, COL5A2, LAMA3, CIITA, COL11A2, COL5A1, BMP2, COL3A1, COL6A3, AKT1, FBLN5, PLOD1, B2M, COL6A1, CCND1, DST, COL1A1, TGFB1, COL1A2, TUFM, ADAMTS2, LRP2, COL13A1, TNF, STAT3, DDR2, PIK3R1, COL2A1, RUNX2, SHH

IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?IMMUNODEFICIENCY 39, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, SADDAN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?RENAL HYPODYSPLASIA/APLASIA 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, IMMUNODEFICIENCY 19, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BETHLEM MYOPATHY 1, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, MYOFIBRILLAR, 5, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, EHLERS-DANLOS SYNDROME, TYPE IV, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, WISKOTT-ALDRICH SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY, COMMON VARIABLE, 3, DYSTONIA 27, PROTEUS SYNDROME, SOMATIC

TSC2, F2, CD3D, NCF1, COL1A1, SQSTM1, COL3A1, RPL5, AGT, IRF7, COL5A1, EDN1, B2M, PLG, TBK1, COL2A1, IL2RG, DYNC2H1, SF3B4, ERBB4, ACTA1, ACE, KRAS, ERBB3, IL10, ADCY6, COL6A2, NOTCH1, TNF, FGFR1, CD3E, LEP, TAP1, COL1A2, PIK3CD, CBL, SMARCE1, CCND1, JAK2, STAT1, BDNF, WAS, DMD, CAV3, GJA1, IL2RA, CSF2RB, SMAD4, HLA-DRB1, NFKB2, VHL, BMP2, HES7, HRAS, AKT1, PLEC, CFTR, IKBKB, KCNQ2, PTEN, FGFR3, MUSK, COL6A3, RUNX2, LCK, NRAS, TGFB1, COL5A2, JAK3, FGF10, NFKB1, STAT3, CD19, COL6A1, FGFR2, CDKN1B, PDGFRA, LAMTOR2, FLNC, CTLA4, FGF20, EGFR, HSPG2, TSC1, PIK3R1, GPD1L, SHH

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PRIMARY PULMONARY HYPERTENSION, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PULMONARY VENOOCCLUSIVE DISEASE 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 5, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, COMBINED SAP DEFICIENCY, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, KRABBE DISEASE, ATYPICAL, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

ACTA1, TGFB2, PROS1, ERBB3, SERPINA1, TGFB1, FLNA, STAT1, F2, AGT, PLG, AKT1, JAK2, BMPR2, IL2RA, IFNG, WT1, FLNC, HRAS, EGFR, TTN, SERPING1, F13A1, PSAP, HSPG2, STAT3, PIK3R1, SELP, SHH

BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, SELECTIVE T-CELL DEFECT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MYOPATHY, TUBULAR AGGREGATE, 1, HERMANSKY-PUDLAK SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ?RENAL HYPODYSPLASIA/APLASIA 2, SADDAN, INSOMNIA, FATAL FAMILIAL, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, FEINGOLD SYNDROME, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], RENAL TUBULAR DYSGENESIS, PRIMARY PULMONARY HYPERTENSION, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, PSEUDOHYPOALDOSTERONISM, TYPE I, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BETHLEM MYOPATHY 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, BEARE-STEVENSON CUTIS GYRATA SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, DYSTONIA 27, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, TIMOTHY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, PULMONARY VENOOCCLUSIVE DISEASE 1, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MYASTHENIC SYNDROME, CONGENITAL, 16, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?IMMUNODEFICIENCY 13, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, PARAMYOTONIA CONGENITA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE IV, MYHRE SYNDROME, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VI, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, TUMOR PREDISPOSITION SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

CAV1, NCF1, COL1A1, SQSTM1, CIITA, COL3A1, F2, AGT, COL5A1, ASCC1, EDN1, GJA1, BTK, B2M, COL6A3, EGR2, DNM2, NCF4, AGRN, COL2A1, IL2RG, BAP1, SF3B4, ERBB4, ACTA1, AIFM1, ACE, SCN4A, F13A1, KRAS, ERBB3, IL10, SCNN1G, COL6A2, NOTCH1, MYCN, DAG1, TNF, RYR1, FGFR1, SCNN1A, LEP, COL1A2, CFL2, COPA, JAK2, PLOD1, CBL, SMARCE1, CNTNAP1, CCND1, NFKBIA, HLA-DRB1, SOX9, GDNF, BDNF, WAS, PTPRC, DMD, BMPR2, PTCH1, CAV3, STIM1, UNC119, ITGA8, IL2RA, CSF2RB, BLNK, SMAD4, CDK5, STAT1, CASR, CNTN1, NFKB2, VHL, BMP2, USP9X, HES7, HRAS, AKT1, SCN4B, PLEC, MRPL3, DTNBP1, EGFR, ATP1A3, IKBKB, SCN2A, KCNQ2, PTEN, FGFR3, MUSK, TUBB4A, RUNX2, LCK, NRAS, FLNA, ZAP70, BIN1, PRNP, TGFB1, COL5A2, SCN5A, JAK3, FGF10, NFKB1, STAT3, CACNA1C, COL6A1, FGFR2, PLCG2, PIK3R1, CDKN1B, PIP5K1C, PDGFRA, LAMTOR2, RET, FGF20, LRP2, SELP, MYH11, HSPG2, HFE2, TINF2, GPD1L, SHH

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, TUBEROUS SCLEROSIS 2, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, PEUTZ-JEGHERS SYNDROME, TUBEROUS SCLEROSIS-1, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 16, PROTEUS SYNDROME, SOMATIC, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1

COX6B1, STK11, F2, LRPPRC, TSC1, PTEN, PRKAG2, COX14, LAMTOR2, SCO1, TP63, TSC2, TACO1, MT-CO2, SURF1, COX8A, MT-CO3, COX20, AKT1, MT-CO1, SCO2

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, LYSINURIC PROTEIN INTOLERANCE, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ANGIOEDEMA, HEREDITARY, TYPE III, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, MYHRE SYNDROME, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MYOPATHY, TUBULAR AGGREGATE, 1, SICKLE CELL ANEMIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AURICULOCONDYLAR SYNDROME 3, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], PRIMARY PULMONARY HYPERTENSION, JOUBERT SYNDROME 5, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, KAPPA LIGHT CHAIN DEFICIENCY, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYOPATHY, MYOFIBRILLAR, 5, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, SED CONGENITA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, PULMONARY VENOOCCLUSIVE DISEASE 1, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AURICULOCONDYLAR SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, ENCEPHALOPATHY, NEONATAL SEVERE, ANGIOEDEMA, HEREDITARY, TYPES I AND II, COMBINED SAP DEFICIENCY, MEIER-GORLIN SYNDROME 4, KRABBE DISEASE, ATYPICAL, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, WISKOTT-ALDRICH SYNDROME, PALLISTER-HALL SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, IMMUNODEFICIENCY 9, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, PROTEUS SYNDROME, SOMATIC

CAV1, HBB, FGFR1, PROS1, CD244, ADRB2, MT-CO1, MFN2, CIITA, COL1A2, F2, AGT, IRF7, GNAI3, AGTR1, EDN1, MYH7, STK11, COL6A1, IL10, EGR2, ITGA3, COL1A1, DNM2, DES, CDT1, SERPING1, TBK1, COL2A1, IL2RG, CTSD, ERBB4, ACTA1, CSF2RB, PRSS2, TGFB2, ACVR1, KRAS, ERBB3, CBL, SERPINA1, CREBBP, IRF5, SMARCE1, NOTCH1, TNF, GATA2, EDNRA, LEP, MECP2, PIK3CD, JAK2, PROC, ORAI1, CCND1, IFNG, HLA-DRB1, NRAS, HSPD1, ACTA2, SLC7A7, STAT3, PTPRC, KAT6A, IGKC, BMPR2, FCGR2A, CAV3, STIM1, RET, GJA1, IL2RA, SOX9, SMAD4, CDK5, CEP290, STAT1, CASR, DMD, VHL, BMP2, AKT1, BIN1, INPPL1, CFTR, WAS, EGFR, ATP1A3, IKBKB, DCTN1, GLI3, ITCH, TTN, PTEN, F13A1, MUSK, ACVRL1, TUBB4A, SH2D1A, LCK, SERPINC1, SH2B3, FLNA, ZAP70, PSAP, B2M, DOCK8, TGFB1, JAK3, NFKB1, TP63, MT-CO2, PLG, RANBP2, IL13, FGFR2, PLCG2, WT1, CDKN1B, BDNF, FLNC, F12, HRAS, LRP2, SELP, MYH11, ADCY6, HSPG2, TSC1, PIK3R1, HFE, PEX5, SHH