RESPIRATORY

AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, NON-IMMUNE HYDROPS FETALIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PROTEUS SYNDROME, SOMATIC

HLA-DRB1, EDN1, GJA1, ADRB2, HSPG2, NEU1, AKT1, IFNG

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, BASAL CELL NEVUS SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, PALLISTER-HALL SYNDROME, OPITZ-KAVEGGIA SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, TIMOTHY SYNDROME, 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 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, AMYOTROPHIC LATERAL SCLEROSIS 19, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, DONNAI-BARROW SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, FRONTOMETAPHYSEAL DYSPLASIA, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, 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, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, JOUBERT SYNDROME 5, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, {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, HYPERPARATHYROIDISM, NEONATAL, WISKOTT-ALDRICH SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, POLYCYSTIC LIVER DISEASE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, PITT-HOPKINS SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HERMANSKY-PUDLAK SYNDROME 2, PULMONARY HYPERTENSION, PRIMARY, 3, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

ACTA1, AIFM1, SOX9, CAV1, VHL, GJA1, NFKB2, ERBB3, VRK1, SUFU, SMAD4, TBK1, AKT1, TGFB1, FLNA, RFXANK, EDA, STAT1, TGFB2, AP3B1, AGT, BCL10, IGKC, NFKB1, EDNRA, TCF4, CDK5, CACNA1C, LEP, NOTCH1, UBA1, EDN1, BMP2, MED12, BTK, PRKDC, IL10, CCND1, LRP5, WAS, NFKBIA, CPOX, LRP2, BDNF, CEP290, CASP8, GLI3, HSPD1, PTEN, HRAS, TMEM173, EGFR, BMPER, CASR, IFNG, ERBB4, F13A1, CREBBP, TNF, STAT3, ASCC1, CFTR, SHH, NFKBIL1, JAK2, RUNX2, GATA2, PIK3R1

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, 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, HERMANSKY-PUDLAK SYNDROME 1, 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, 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, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, CUTIS LAXA, AD, 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, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CD8 DEFICIENCY, FAMILIAL, 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, 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, HERMANSKY-PUDLAK SYNDROME 2, 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, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, SED CONGENITA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KNIEST DYSPLASIA, 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, PULMONARY VENOOCCLUSIVE DISEASE 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AURICULOCONDYLAR SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 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, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, COMPLEMENT FACTOR I DEFICIENCY, RENAL ADYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PALLISTER-HALL SYNDROME, SICKLE CELL ANEMIA, 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, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, IMMUNODEFICIENCY 9, HERMANSKY-PUDLAK SYNDROME 7, PROTEUS SYNDROME, SOMATIC

CAV1, HBB, FGFR1, PROS1, CD244, ADRB2, MFN2, CD8A, CIITA, COL1A2, F2, AGT, IRF7, GNAI3, AGTR1, EDN1, B2M, STK11, COL6A1, IL10, EGR2, ITGA3, ERBB4, BAG3, COL1A1, DNM2, DES, CDT1, EFEMP2, SERPING1, TBK1, COL2A1, MUSK, ACTA1, SOX9, TGFB2, ACVR1, FBLN5, ERBB3, CBL, ELN, SERPINA1, CREBBP, IRF5, SMARCE1, NOTCH1, TNF, GATA2, EDNRA, LEP, PIK3CD, JAK2, PROC, ORAI1, CCND1, IFNG, STAT1, HSPD1, SLC7A7, BIN1, STAT3, PTPRC, DMD, BMPR2, CAV3, STIM1, RET, GJA1, IL2RA, NRAS, SMAD4, CDK5, MECP2, HLA-DRB1, CASR, CTSD, VHL, BMP2, AKT1, KRAS, INPPL1, CFTR, CFI, WAS, EGFR, ATP1A3, IGKC, DCTN1, GLI3, ITCH, TTN, PTEN, F13A1, ACVRL1, TUBB4A, SH2D1A, LCK, SERPINC1, SH2B3, FLNA, ZAP70, PSAP, MYH7, DOCK8, TGFB1, DTNBP1, AP3B1, NFKB1, TP63, MT-CO2, PLG, RANBP2, IL13, FGFR2, PLCG2, WT1, CDKN1B, BDNF, FLNC, F12, HPS1, HRAS, LRP2, SELP, MYH11, ADCY6, HSPG2, FCGR2A, PIK3R1, HFE, SHH

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, 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, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, 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, KNIEST DYSPLASIA, CUTIS LAXA, AD, EHLERS-DANLOS SYNDROME, TYPE VIIC, 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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, BETHLEM MYOPATHY 1, TUBEROUS SCLEROSIS 2, APLASIA OF LACRIMAL AND SALIVARY GLANDS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PULMONARY HYPERTENSION, PRIMARY, 3, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, RENAL TUBULAR DYSGENESIS, CEROID LIPOFUSCINOSIS, NEURONAL, 10, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

ACE, PRSS2, CAV1, DDR2, SOX9, ELN, COL6A2, TNF, TGFB1, COL5A2, F2, AGT, COL11A2, VHL, BMP2, COL5A1, LEP, COL3A1, COL6A3, AKT1, JAK2, IL13, COL6A1, IFNG, COL1A1, COL1A2, SERPINH1, NOTCH1, ADAMTS2, COL13A1, FGF10, STAT3, COL2A1, RUNX2, CTSD, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, GLUTAMINE DEFICIENCY, CONGENITAL, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ATELOSTEOGENESIS, TYPE I, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CUTIS LAXA, AD, 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, ?OSTEOGENESIS IMPERFECTA, TYPE X, PULMONARY VENOOCCLUSIVE DISEASE 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, DYSAUTONOMIA, FAMILIAL, HERMANSKY-PUDLAK SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, 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, 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, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, 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}, ULNAR-MAMMARY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, 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, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, 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}, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, PRIMARY PULMONARY HYPERTENSION, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, 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, 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, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, HERMANSKY-PUDLAK SYNDROME 2, VAN DEN ENDE-GUPTA SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, 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, NON-IMMUNE HYDROPS FETALIS, OSTEOGLOPHONIC DYSPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, TIMOTHY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, ATAXIA-TELANGIECTASIA, OSTEOGENESIS IMPERFECTA, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, IMMUNODEFICIENCY, COMMON VARIABLE, 7, WISKOTT-ALDRICH SYNDROME, DYSTONIA 25, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, 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, OPITZ GBBB SYNDROME, TYPE I, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, JOUBERT SYNDROME-3, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, VELOCARDIOFACIAL SYNDROME, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, TUMOR PREDISPOSITION 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, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LOEYS-DIETZ SYNDROME 4, 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, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

TSC2, NEU1, CAV1, NCF1, ADRB2, MFN2, CIITA, MS4A2, RPL5, F2, TBX3, AGT, IRF7, LEP, AGTR1, EDN1, KCNH2, GJA1, BTK, IL4R, STK11, SPINK1, IL10, RANBP2, SALL4, BAG3, COL1A1, DNM2, NFKBIA, BMPER, CREBBP, IKBKAP, BAP1, SF3B4, MUSK, ACTA1, ACE, GRIP1, ACVR1, KRAS, ERBB3, CBL, ELN, PTPRC, SERPINA1, ADCY6, NOTCH1, GLUL, TNF, GATA2, FGFR1, MID1, TAF6, LMNA, CPOX, COPA, JAK2, AIFM1, MEGF10, SMARCE1, CCND1, IFNG, EFTUD2, EDN3, NKX2-1, SUCLA2, NDUFS2, GDNF, HSPD1, TMEM173, NLRP1, TP63, TBX1, SNAP25, DMD, PAX8, KCNA5, PTCH1, CAV3, RET, REN, SOX9, TGFB2, SMAD4, CDK5, F13A1, NDUFAF2, HLA-DRB1, LRP5, CASR, FOXF1, CTSD, CHRNE, BMP2, NDN, AKT1, INPPL1, ASCL1, DTNBP1, WAS, SEC63, IKBKB, IGKC, DCTN1, CASP8, HLA-G, KCNQ2, PTEN, IL1RN, ACVRL1, RUNX2, SELP, AHI1, LCK, SSR4, FLNA, KCNQ1, ZAP70, BIN1, B2M, JAGN1, TGFB1, ATM, GNAL, CFTR, AP3B1, FGF10, STAT1, NFKB1, STAT3, MT-CO2, CACNA1C, KCNJ8, PLG, SERPINH1, SCARF2, IL13, BMPR2, TYK2, WT1, CDKN1B, JAK3, BDNF, FLNC, PTH1R, CTLA4, HRAS, EGFR, ADA, OCLN, MYH11, HSPG2, EXOC8, CR2, PIK3R1, TINF2, FLNB, IL21, SHH

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, GLUTAMINE DEFICIENCY, CONGENITAL, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, 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, MELNICK-NEEDLES SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYOTUBULAR MYOPATHY, X-LINKED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, DYSAUTONOMIA, FAMILIAL, HERMANSKY-PUDLAK SYNDROME 1, 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, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DUANE-RADIAL RAY SYNDROME, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, 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 TUBULAR DYSGENESIS, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, OPITZ GBBB SYNDROME, TYPE I, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, 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, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, PRIMARY PULMONARY HYPERTENSION, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, HERMANSKY-PUDLAK SYNDROME 2, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, NON-IMMUNE HYDROPS FETALIS, MUSCULAR DYSTROPHY, CONGENITAL, OSTEOGENESIS IMPERFECTA, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, DYSTONIA 25, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ULNAR-MAMMARY SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CUTIS LAXA, AD, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, 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, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, LOEYS-DIETZ SYNDROME 4, HERMANSKY-PUDLAK SYNDROME 7, PROTEUS SYNDROME, SOMATIC

LMNA, DNM2, CAV1, COL1A1, MFN2, CIITA, MS4A2, F2, TBX3, AGT, IGKC, CDK5, EDN1, IL4R, CBL, SALL4, ADRB2, NEU1, CREBBP, IKBKAP, MUSK, ACTA1, TGFB2, KRAS, ERBB3, IL10, ELN, GLUL, TNF, IL21, MID1, LEP, JAK2, AIFM1, MEGF10, CCND1, IFNG, HLA-DRB1, EDN3, SUCLA2, GDNF, HSPD1, TMEM173, NLRP1, ACVR1, SNAP25, KCNA5, PTCH1, GJA1, AGTR1, STAT1, CASR, DMD, CHRNE, AKT1, INPPL1, CFTR, WAS, IKBKB, DCTN1, PTEN, F13A1, ACVRL1, RUNX2, SELP, LCK, FLNA, KCNQ1, B2M, JAGN1, TGFB1, ATM, GNAL, DTNBP1, AP3B1, FGF10, STAT3, PLG, IL13, CDKN1B, HRAS, EGFR, OCLN, ZAP70, HSPG2, PIK3R1, TINF2, GATA2, SHH

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, TIMOTHY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {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}, ?IMMUNODEFICIENCY 39, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, PRIMARY PULMONARY HYPERTENSION, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, DYSAUTONOMIA, FAMILIAL, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, TUMOR PREDISPOSITION SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], OPSISMODYSPLASIA, AURICULOCONDYLAR SYNDROME 3, PULMONARY HYPERTENSION, PRIMARY, 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 43, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35, PROTEUS SYNDROME, SOMATIC

KCNA5, CAV3, CAV1, KCNQ1, IL1RN, REN, ERBB3, IL10, ADRB2, SMAD4, TGFB1, NOTCH1, NDUFAF2, EFTUD2, CASR, LEP, AGT, FOXF1, CTSD, NFKB1, STAT3, CDK5, CACNA1C, CHRNE, BMP2, KCNJ8, AKT1, INPPL1, ATM, B2M, TYK2, CCND1, SELP, JAK2, BDNF, HLA-G, HSPD1, EDN1, HRAS, EGFR, BMPER, ADA, PTEN, MYH11, HSPG2, TNF, ACVR1, BAP1, IKBKAP, SNAP25, SF3B4, IRF7, SHH

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, 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, HERMANSKY-PUDLAK SYNDROME 1, 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, 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, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, CUTIS LAXA, AD, ?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, CD8 DEFICIENCY, FAMILIAL, 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, 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, HERMANSKY-PUDLAK SYNDROME 2, 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, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, SED CONGENITA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KNIEST DYSPLASIA, 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, PULMONARY VENOOCCLUSIVE DISEASE 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, 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}, 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, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, COMPLEMENT FACTOR I DEFICIENCY, RENAL ADYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, PALLISTER-HALL SYNDROME, SICKLE CELL ANEMIA, 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, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, IMMUNODEFICIENCY 9, HERMANSKY-PUDLAK SYNDROME 7, PROTEUS SYNDROME, SOMATIC

CAV1, HBB, FGFR1, PROS1, CD244, ADRB2, MFN2, CD8A, CIITA, COL1A2, F2, AGT, IRF7, GNAI3, AGTR1, EDN1, MYH7, STK11, COL6A1, IL10, EGR2, ITGA3, BAG3, COL1A1, DNM2, DES, CDT1, EFEMP2, SERPING1, TBK1, COL2A1, CTSD, ERBB4, ACTA1, SOX9, TGFB2, ACVR1, FBLN5, ERBB3, CBL, ELN, SERPINA1, CREBBP, IRF5, SMARCE1, NOTCH1, TNF, GATA2, EDNRA, LEP, PIK3CD, JAK2, PROC, ORAI1, CCND1, IFNG, STAT1, HSPD1, SLC7A7, BIN1, STAT3, PTPRC, IGKC, BMPR2, CAV3, STIM1, RET, GJA1, IL2RA, NRAS, SMAD4, CDK5, MECP2, HLA-DRB1, CASR, DMD, VHL, BMP2, AKT1, KRAS, INPPL1, CFTR, CFI, WAS, EGFR, ATP1A3, DCTN1, GLI3, ITCH, TTN, PTEN, F13A1, MUSK, ACVRL1, TUBB4A, SH2D1A, LCK, SERPINC1, SH2B3, FLNA, ZAP70, PSAP, B2M, DOCK8, TGFB1, DTNBP1, AP3B1, NFKB1, TP63, MT-CO2, PLG, RANBP2, IL13, FGFR2, PLCG2, WT1, CDKN1B, BDNF, FLNC, F12, HPS1, HRAS, LRP2, SELP, MYH11, ADCY6, HSPG2, FCGR2A, PIK3R1, HFE, SHH

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, BASAL CELL NEVUS SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, OTOPALATODIGITAL SYNDROME, TYPE II, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, METATROPIC DYSPLASIA, HERMANSKY-PUDLAK SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FRASER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, AURICULOCONDYLAR SYNDROME 3, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, 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, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ?IMMUNODEFICIENCY 22, 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}, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, PRIMARY PULMONARY HYPERTENSION, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?TETRA-AMELIA SYNDROME, TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, IMMUNODEFICIENCY 36, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 3-M SYNDROME 1, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, MUSCULAR DYSTROPHY, CONGENITAL, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OSTEOGENESIS IMPERFECTA, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 8, SED CONGENITA, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, WISKOTT-ALDRICH SYNDROME, GENITOPATELLAR SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HEMOCHROMATOSIS TYPE 1, PULMONARY HYPERTENSION, PRIMARY, 3, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MYASTHENIC SYNDROME, CONGENITAL, 16, 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, RENPENNING SYNDROME, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, RETT SYNDROME, CONGENITAL VARIANT, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, DIAPHANOSPONDYLODYSOSTOSIS, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PALLISTER-HALL SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HERMANSKY-PUDLAK SYNDROME 7, PROTEUS SYNDROME, SOMATIC

LMNA, CAV1, FGFR1, LRP4, ADRB2, SQSTM1, FTL, F2, AGT, TP63, AGTR1, ASCC1, UBA1, EDN1, STK11, CFL2, EGR2, ITGA3, ERBB4, COL1A1, DNM2, NFKBIA, NCF4, EFEMP2, BMPER, CREBBP, ECM1, CNTNAP1, CUL7, MUSK, ACTA1, SOX9, SCN4A, KRAS, ERBB3, CDKL5, ADCY6, NOTCH1, TNF, CORO1A, EDNRA, WNT3, IFNG, AIFM1, CBL, COL2A1, CCND1, AGRN, KAT6B, GDNF, HSPD1, ACVR1, PTPRC, SNAP25, BMPR2, PTCH1, GJA1, SMAD4, CDK5, MECP2, GRIP1, CASR, CNTN1, DMD, PQBP1, BMP2, AKT1, SIK1, DTNBP1, LRP2, FBN1, GLI3, MCM4, ITCH, PTEN, TRPV4, STAT3, RUNX2, LCK, FLNA, CHRNE, ZAP70, FOXG1, TGFB1, PRKCSH, SOST, SCN5A, WAS, FGFR2, PIK3R1, BDNF, RET, HRAS, EGFR, OCLN, MYH11, HFE2, SHH

ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, 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, CD8 DEFICIENCY, FAMILIAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 43, DIAMOND-BLACKFAN ANEMIA 6, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, COMPLEMENT FACTOR I DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, KAPPA LIGHT CHAIN DEFICIENCY, TUBEROUS SCLEROSIS 2, AGAMMAGLOBULINEMIA, X-LINKED 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, DUANE-RADIAL RAY SYNDROME, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, ENCEPHALOPATHY, NEONATAL SEVERE, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

LCK, RPL5, IL7R, GJA1, IL10, IRF5, CD8A, TGFB1, SQSTM1, MECP2, ATM, STAT1, IRF7, TNF, IGKC, HLA-DRB1, EDNRA, CR2, AKT1, JAK2, IL13, PRKDC, B2M, PTPRC, CFI, CDKN1B, SALL4, EGFR, TBX21, HLA-G, HSPD1, EXOSC3, IFNG, PTEN, CREBBP, JAK3, STAT3, BTK, TYK2, SH2D1A, HFE, IL21, PIK3R1

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, NON-IMMUNE HYDROPS FETALIS, VAN MALDERGEM SYNDROME 2, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, THANATOPHORIC DYSPLASIA, TYPE II, FIBROCHONDROGENESIS 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OSTEOGENESIS IMPERFECTA, TYPE II, THANATOPHORIC DYSPLASIA, TYPE I, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, URBACH-WIETHE DISEASE, PULMONARY VENOOCCLUSIVE DISEASE 1, RETT SYNDROME, CONGENITAL VARIANT, SED CONGENITA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, KNIEST DYSPLASIA, PRIMARY PULMONARY HYPERTENSION, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, ?IMMUNODEFICIENCY 39, MYASTHENIC SYNDROME, CONGENITAL, 19, METATROPIC DYSPLASIA, RHEUMATOID ARTHRITIS, {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, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HYPOPHOSPHATASIA, INFANTILE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, ACHONDROGENESIS IB, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, KEUTEL SYNDROME, BETHLEM MYOPATHY 1, OPSISMODYSPLASIA, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, APLASIA OF LACRIMAL AND SALIVARY GLANDS, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, RUBINSTEIN-TAYBI SYNDROME, VAN MALDERGEM SYNDROME 1, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, OSTEOGENESIS IMPERFECTA, TYPE III, SADDAN, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

ACTA1, CAV3, SLC26A2, FGFR3, FZD6, DCHS1, COL1A1, IRF5, FOXG1, TNF, TGFB1, FAT4, SOST, IRF7, ACVRL1, CASR, AGT, RYR1, ECM1, CDK5, LEP, EGR2, COL6A1, AKT1, BMP2, IFNG, INPPL1, F2, CCND1, JAK2, BDNF, MGP, SOX9, CHAT, EDN1, HRAS, EGFR, ALPL, BMPER, COL13A1, TRPV4, CREBBP, HSPG2, FGF10, PEX7, DDR2, BMPR2, COL2A1, STAT3, RUNX2, COL11A2, SHH

ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, 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, CD8 DEFICIENCY, FAMILIAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, DIAMOND-BLACKFAN ANEMIA 6, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, COMPLEMENT FACTOR I DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, KAPPA LIGHT CHAIN DEFICIENCY, TUBEROUS SCLEROSIS 2, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, DUANE-RADIAL RAY SYNDROME, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, ENCEPHALOPATHY, NEONATAL SEVERE, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

LCK, RPL5, IL7R, GJA1, IL10, IRF5, CD8A, TGFB1, SQSTM1, MS4A2, ATM, STAT1, IRF7, TNF, HSPD1, IGKC, HLA-DRB1, EDNRA, CR2, CD3E, MECP2, EDN1, BTK, JAK2, IL13, PRKDC, B2M, PTPRC, CFI, CDKN1B, SALL4, EGFR, TBX21, HLA-G, FOXF1, AKT1, EXOSC3, IFNG, PTEN, CREBBP, JAK3, STAT3, SHH, TYK2, SH2D1A, HFE, IL21, PIK3R1

COLD-INDUCED SWEATING SYNDROME 1, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, AMYOTROPHIC LATERAL SCLEROSIS 19, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TUBEROUS SCLEROSIS 2, PULMONARY HYPERTENSION, PRIMARY, 3, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, SADDAN, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

LCK, CAV1, GJA1, TGFB1, NOTCH1, STAT1, TNF, IL21, BMP2, LEP, AKT1, JAK2, IL13, CRLF1, IFNG, EGFR, ERBB4, FGFR3, CREBBP, AGT, STAT3, SHH

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, 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, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?IMMUNODEFICIENCY 39, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, 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, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, 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}, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN 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, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, IMMUNODEFICIENCY 19, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, KAPPA LIGHT CHAIN DEFICIENCY, TUBEROUS SCLEROSIS 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, OMENN SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ATAXIA-TELANGIECTASIA, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, 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, ?MYASTHENIC SYNDROME, CONGENITAL, 18, IMMUNODEFICIENCY, COMMON VARIABLE, 13, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BLOOM SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYHRE SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, C1R/C1S DEFICIENCY, COMBINED, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, PALLISTER-HALL SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PROTEUS SYNDROME, SOMATIC

LCK, IRF5, SHH, IL7R, GJA1, CBL, CASP8, PTPRC, CCND1, TBK1, RAG1, MYCN, CD8A, TNF, TGFB1, DOCK8, NOTCH1, ATM, RPL5, IRF7, IKZF1, CARD11, DAG1, BLM, AGT, CTLA4, IGKC, STAT1, NFKB1, FCGR2A, CDK5, SQSTM1, NCF4, PLG, MUSK, AKT1, BMP2, JAK2, TK2, CD3E, PRKDC, PAX8, B2M, CREBBP, SMARCE1, PIK3CD, CD3G, IL10, WAS, CDKN1B, HLA-G, EGFR, AICDA, C1R, ICOS, IKBKB, ADRB2, SMAD4, GLI3, HSPD1, HLA-DRB1, HRAS, ERBB4, ITCH, WNT4, KRAS, IFNG, RUNX2, PTEN, CD3D, ZAP70, TBX21, PTPN22, BTK, HSPG2, ADA, STAT3, CFTR, RAG2, TYK2, IL2RG, SNAP25, GATA2, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ATAXIA-TELANGIECTASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, 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 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?IMMUNODEFICIENCY 37, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, FRONTOMETAPHYSEAL DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, LOEYS-DIETZ SYNDROME 4, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

LCK, TGFB2, IL10, CASP8, BCL10, ATM, STAT1, FLNA, CASR, TNF, TGFB1, IL21, STAT3, AKT1, IL13, PRKDC, EXOSC3, B2M, TYK2, CCND1, IFNG, JAK3, TBX21, EDN1, EGFR, CREBBP, HSPG2, ACVRL1, BTK, PTPRC, IRF7, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, BASAL CELL NEVUS SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OTOPALATODIGITAL SYNDROME, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, LARSEN SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PERRY SYNDROME, GLYCOGEN STORAGE DISEASE II, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY, CONGENITAL, ATELOSTEOGENESIS, TYPE I, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MELNICK-NEEDLES SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, FRONTOMETAPHYSEAL DYSPLASIA, MYOTUBULAR MYOPATHY, X-LINKED, RESTRICTIVE DERMOPATHY, LETHAL, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, WISKOTT-ALDRICH SYNDROME, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, PULMONARY HYPERTENSION, PRIMARY, 3, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

NCF1, CAV1, LMNA, SUFU, SERPINA1, TGFB1, RFXANK, TAP1, GRIP1, DAG1, WAS, MT-CO2, CHAMP1, FLNA, CEP57, DST, PRKDC, DSP, NFKBIL1, LRPPRC, IL10, NFKBIA, STAT1, DCTN1, DNM2, FLNB, HRAS, PIP5K1C, STAT3, GAA, SYNE2, CCND1

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, HYPER-IGE RECURRENT INFECTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ASPARAGINE SYNTHETASE DEFICIENCY, {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, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, 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, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, AMYOTROPHIC LATERAL SCLEROSIS 19, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPERPARATHYROIDISM, NEONATAL, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, KAPPA LIGHT CHAIN DEFICIENCY, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, BETHLEM MYOPATHY 1, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, OSTEOGENESIS IMPERFECTA, TYPE II, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, GLUTAMINE DEFICIENCY, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

ACTA1, SOX9, CYBA, COL1A1, SMAD4, COL5A2, GLUL, F2, CASR, AGT, IGKC, VHL, MTHFR, COL3A1, COL6A1, EDN1, IFNG, ASCL1, CCND1, CDKN1B, PDGFRA, LAMTOR2, COL1A2, HSPD1, AKT1, NOTCH1, EGFR, DNMT3B, ASNS, ERBB4, TNF, STAT3, PTEN, SHH

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, BROWN-VIALETTO-VAN LAERE SYNDROME 2, ATELOSTEOGENESIS, TYPE I, SELECTIVE T-CELL DEFECT, 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, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, 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, SICKLE CELL ANEMIA, HYPOPHOSPHATASIA, INFANTILE, 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, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, 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 TUBULAR DYSGENESIS, IMMUNODEFICIENCY 35, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, {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, 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, CD8 DEFICIENCY, FAMILIAL, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SINGLETON-MERTEN SYNDROME 1, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, DIAMOND-BLACKFAN ANEMIA 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, KAPPA LIGHT CHAIN DEFICIENCY, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, VAN DEN ENDE-GUPTA SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?IMMUNODEFICIENCY 37, NESTOR-GUILLERMO PROGERIA SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY, COMMON VARIABLE, 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ATAXIA-TELANGIECTASIA, NIEMANN-PICK DISEASE, TYPE C2, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, SED CONGENITA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, PULMONARY HYPERTENSION, PRIMARY, 3, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ENCEPHALOPATHY, NEONATAL SEVERE, EHLERS-DANLOS SYNDROME, TYPE IV, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, RENPENNING SYNDROME, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PLEUROPULMONARY BLASTOMA, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, C1R/C1S DEFICIENCY, COMBINED, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, PALLISTER-HALL SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, IMMUNODEFICIENCY, COMMON VARIABLE, 12, PEELING SKIN SYNDROME 1, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PROTEUS SYNDROME, SOMATIC

NEU1, CAV1, HBB, ADRB2, IFIH1, CD8A, CIITA, GLI3, COL3A1, RPL5, CYBA, AGT, IRF7, MUC5B, AGTR1, EDN1, REN, BTK, IL4R, CCL11, EGR2, IL21R, DNM2, NFKBIA, EFEMP2, POR, TBK1, COL2A1, ERBB4, ACTA1, ACE, PRSS2, TGFB2, F13A1, KRAS, NFKB2, ERBB3, IL10, CASP8, CREBBP, IRF5, SQSTM1, NOTCH1, DAG1, TNF, IL21, EDNRA, HAVCR1, LEP, COL1A2, PIK3CD, COPA, GFPT1, JAK2, CBL, CCND1, IFNG, IGHM, SSR4, NKX2-1, NCF2, NDUFS2, F2, HSPD1, TMEM173, OCLN, ACTA2, NLRP1, AICDA, TP63, TYK2, IGKC, NCF1, BANF1, ALPL, GJA1, IL2RA, CSF2RB, SMAD4, CDK5, MECP2, C1R, HLA-DRB1, CASR, CTSD, PQBP1, LIAS, SLC52A2, BMP2, AKT1, CYBB, TPI1, PRKDC, MRPL3, CFTR, WAS, SEC63, ATP1A3, TBX21, DCTN1, HLA-G, ITCH, PTEN, IL1RN, HAMP, SCGB1A1, NPC2, ACP5, TAPBP, NFKBIL1, RUNX2, NHP2, LCK, DDX41, FLNA, BIN1, B2M, PTGER2, PRKCSH, BCL10, RFXANK, ATM, FGF10, TGFB1, DICER1, STAT1, NFKB1, STAT3, MT-CO2, CD19, KCNJ8, PLG, SCARF2, IL13, PLCG2, PTPRC, CDKN1B, BDNF, FBN1, FLNB, HRAS, EGFR, CDSN, SFTPC, EPOR, ZAP70, IKBKB, HSPG2, SELP, CR2, PIK3R1, HFE, GATA2, SHH

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMMUNODEFICIENCY 15, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, HYPER-IGE RECURRENT INFECTION SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {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, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FAMILIAL MEDITERRANEAN FEVER, AD, DONNAI-BARROW SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DUCHENNE MUSCULAR DYSTROPHY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, 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}, MYOTUBULAR MYOPATHY, X-LINKED, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, METATROPIC DYSPLASIA, WISKOTT-ALDRICH SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FAMILIAL MEDITERRANEAN FEVER, AR, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TUBEROUS SCLEROSIS 2, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, AURICULOCONDYLAR SYNDROME 3, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, HERMANSKY-PUDLAK SYNDROME 2, VAN DEN ENDE-GUPTA SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 3, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, OSTEOGENESIS IMPERFECTA, TYPE II, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SERKAL SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, CAV3, CAV1, BIN1, GJA1, CCL11, PTEN, AGTR1, SQSTM1, TGFB1, FLNA, RFXANK, STAT1, F2, AP3B1, AGT, DMD, FGFR1, WAS, CDK5, BMP2, RANBP2, NOTCH1, PLG, AKT1, SCARF2, TPI1, MEFV, CBL, CFL2, CCND1, SELP, CDKN1B, LRP2, BDNF, WNT4, DNM2, DES, GDNF, EDN1, HRAS, COL1A2, EGFR, BMPER, CASR, ACTA2, IFNG, ERBB4, TRPV4, IKBKB, TNF, STAT3, RUNX2, MUSK, SHH

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 21, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, SELECTIVE T-CELL DEFECT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NIJMEGEN BREAKAGE SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, PITT-HOPKINS SYNDROME, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, SADDAN, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, ATAXIA-TELANGIECTASIA, MYOPATHY, MYOFIBRILLAR, 5, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, FEINGOLD SYNDROME, RUBINSTEIN-TAYBI SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, 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}, DYSKERATOSIS CONGENITA, X-LINKED, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FILS SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, RHEUMATOID ARTHRITIS, KAPPA LIGHT CHAIN DEFICIENCY, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, OMENN SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GLYCOGEN STORAGE DISEASE II, OSTEOGENESIS IMPERFECTA, TYPE II, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DUCHENNE MUSCULAR DYSTROPHY, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 8, SED CONGENITA, KNIEST DYSPLASIA, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, FIBROCHONDROGENESIS 2, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, BLOOM SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, 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, PULMONARY VENOOCCLUSIVE DISEASE 2, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

ACTA1, NCF1, RPL5, DNA2, CAV1, CORO1A, CHRNE, ZAP70, KRAS, CAV3, COL1A1, TCF4, LIPA, PTEN, PTGER2, MYCN, FLNC, MRPL3, AKT1, UBA1, TGFB1, ATM, PTH1R, DCLRE1C, CYBA, CASR, AGT, IGKC, HLA-DRB1, VHL, DKC1, COL5A1, LEP, CHRNA1, CFL2, EDN1, BMP2, EIF2AK4, CYBB, BLM, POLE, PRKDC, B2M, COL11A2, STK11, GAA, CCND1, TNF, TINF2, IFNG, ACP5, SSR4, RTEL1, LRP2, ADRB2, SOX9, GATA2, FGFR3, NBN, MUC7, EGFR, ITGA7, DAG1, RYR1, RUNX2, NHP2, ECHS1, TERT, CREBBP, SCGB1A1, SELP, STAT3, CFTR, PIK3R1, COL2A1, IL13, HFE, DMD, POLA1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACHONDROPLASIA, PEUTZ-JEGHERS SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ATAXIA-TELANGIECTASIA, THANATOPHORIC DYSPLASIA, TYPE I, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MYOPATHY, MYOFIBRILLAR, 2, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, RENAL ADYSPLASIA, SED CONGENITA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, KNIEST DYSPLASIA, AMYOTROPHIC LATERAL SCLEROSIS 19, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AURICULOCONDYLAR SYNDROME 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, IMMUNODEFICIENCY 36, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 3, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, SADDAN, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

ACTA1, ACE, CAV1, FGFR1, KRAS, ERBB3, SOX9, CASP8, SMAD4, CREBBP, SQSTM1, TNF, TGFB1, NOTCH1, ATM, CFTR, CASR, AGT, EDNRA, PRKAG2, EDA, AKT1, AGRN, TPI1, AIFM1, IL4R, STK11, CCND1, IL10, CCL11, CDKN1B, CRYAB, BDNF, RET, GDNF, EDN1, HRAS, EGFR, PTEN, FGFR3, IKBKB, NRAS, HSPG2, FGF10, STAT3, COL2A1, ERBB4, PIK3R1

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, ULNAR-MAMMARY SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, 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, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, CILIARY DYSKINESIA, PRIMARY, 33, FEINGOLD SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, VAN MALDERGEM SYNDROME 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, RUBINSTEIN-TAYBI SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, PRIMARY PULMONARY HYPERTENSION, JOUBERT SYNDROME 5, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {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, PALLISTER-HALL SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, APLASIA OF LACRIMAL AND SALIVARY GLANDS, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OPITZ GBBB SYNDROME, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, JOUBERT SYNDROME-3, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

ACTA1, SOX9, RET, CAV1, KMT2A, SMAD4, MYCN, FAT4, TGFB1, GDNF, NOTCH1, STAT1, BMPR2, TBX3, FGF10, SMAD9, GATA2, STAT3, MID1, BMP2, CEP290, AKT1, BTK, IL13, PAX8, MYH7, ASCL1, CCND1, IFNG, WT1, EGFR, FBN1, DNM2, GLI3, ACVRL1, HRAS, ITCH, SELP, GAS8, CREBBP, HSPG2, TNF, TP63, SHH, RUNX2, SF3B4, AHI1

CILIARY DYSKINESIA, PRIMARY, 33, CORNELIA DE LANGE SYNDROME 1, TUBEROUS SCLEROSIS 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PULMONARY HYPERTENSION, PRIMARY, 3, HYPER-IGE RECURRENT INFECTION SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, PALLISTER-HALL SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, ULNAR-MAMMARY SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME

STAT1, TBX3, CCND1, SHH, TNF, TP63, KMT2A, SOX9, STAT3, EGFR, ACVRL1, CAV1, SMAD4, GAS8, GLI3, SF3B4, IFNG, IL13

BASAL CELL NEVUS SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, 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, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ?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, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MYHRE SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, AMYOTROPHIC LATERAL SCLEROSIS 19, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HERMANSKY-PUDLAK SYNDROME 1, HYPOPHOSPHATASIA, INFANTILE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DUANE-RADIAL RAY SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, SADDAN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, RAINE SYNDROME, 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, CILIARY DYSKINESIA, PRIMARY, 33, JOUBERT SYNDROME 6, IMMUNODEFICIENCY 43, 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, VELOCARDIOFACIAL SYNDROME, PRIMARY PULMONARY HYPERTENSION, JOUBERT SYNDROME 5, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, 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, PRADER-WILLI SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, COMBINED SAP DEFICIENCY, VAN DEN ENDE-GUPTA SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, COACH SYNDROME, OSTEOGLOPHONIC DYSPLASIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, SED CONGENITA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, JOUBERT SYNDROME-3, KRABBE DISEASE, ATYPICAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, OPITZ-KAVEGGIA SYNDROME, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, MYOPATHY, MYOFIBRILLAR, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, RENAL ADYSPLASIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, PALLISTER-HALL SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, NETHERTON SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, PEELING SKIN SYNDROME 1, HYPERPARATHYROIDISM, NEONATAL, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PROTEUS SYNDROME, SOMATIC

CAV1, UPK3A, COL1A1, SQSTM1, COL1A2, AGT, MUC5B, TAF6, CDK5, DSG1, BTK, B2M, STK11, EGR2, SALL4, FBP1, GAS8, EFEMP2, WNT4, TBK1, COL2A1, SF3B4, ERBB4, ACTA1, VRK1, KRAS, ERBB3, CREBBP, NOTCH1, CPOX, DAG1, TNF, GATA2, FGFR1, LEP, JAK2, DSP, CCND1, NFKBIA, EDN3, NKX2-1, GDNF, HSPD1, ACADVL, TP63, TBX1, PAX8, PTCH1, FAM20C, ALPL, CDSN, SOX9, SMAD4, SMAD9, CEP290, STAT1, CASR, VHL, SNRPB, BMP2, NDN, AKT1, FZD6, PRKDC, ASCL1, MED12, LRP2, SOX18, GLI3, EDN1, TMEM67, ITCH, PEX5, FGFR3, SPINK5, SCGB1A1, ACVRL1, STAT3, RUNX2, AHI1, FLNA, PSAP, PRKCSH, TGFB1, FGF10, NFKB1, ACVR1, PLG, SCARF2, FGFR2, WT1, CDKN1B, CRYAB, BDNF, FBN1, RET, FOXF1, PTEN, HRAS, EGFR, SELP, MYH11, HSPG2, EXOC8, BMPR2, HPS1, SHH

{ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, AURICULOCONDYLAR SYNDROME 3, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, RENAL TUBULAR DYSGENESIS, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ASPARAGINE SYNTHETASE DEFICIENCY, PROTEUS SYNDROME, SOMATIC

SELP, TUFM, EDN1, F2, POR, TNF, WT1, EGR2, ITGA3, AGT, LEP, PTEN, PAX8, ASNS, TGFB1, AKT1, NOTCH1

POLYCYSTIC LIVER DISEASE, OTOPALATODIGITAL SYNDROME, TYPE II, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, DYSAUTONOMIA, FAMILIAL, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PULMONARY HYPERTENSION, PRIMARY, 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, SERKAL SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, PROTEUS SYNDROME, SOMATIC

CAV1, REN, DHCR7, TNF, TGFB1, SOST, PTH1R, LRP5, AGT, NFKB1, BMP2, FLNA, AKT1, SELP, IFNG, EDN1, POR, PTEN, CREBBP, HSPG2, FGF10, IKBKAP, RUNX2, WNT4, SHH

BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, 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, 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, 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, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DUANE-RADIAL RAY SYNDROME, 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, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, SADDAN, IMMUNODEFICIENCY 35, INSOMNIA, FATAL FAMILIAL, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, 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, CILIARY DYSKINESIA, PRIMARY, 33, FEINGOLD SYNDROME, CD8 DEFICIENCY, FAMILIAL, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, 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, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, PRIMARY PULMONARY HYPERTENSION, JOUBERT SYNDROME 5, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, 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, PRADER-WILLI SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, EPILEPSY, PYRIDOXINE-DEPENDENT, OMENN SYNDROME, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, ?IMMUNODEFICIENCY 37, MICROPHTHALMIA, SYNDROMIC 12, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ATAXIA-TELANGIECTASIA, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, 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, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), ?MICROPHTHALMIA, SYNDROMIC 1, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, PULMONARY VENOOCCLUSIVE DISEASE 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, 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, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, JOUBERT SYNDROME-3, ENCEPHALOPATHY, NEONATAL SEVERE, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, COLD-INDUCED SWEATING SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OPITZ-KAVEGGIA SYNDROME, VELOCARDIOFACIAL SYNDROME, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BLOOM SYNDROME, RENAL ADYSPLASIA, ASPARAGINE SYNTHETASE DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MYOPATHY, MYOFIBRILLAR, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, ULNAR-MAMMARY SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, MEIER-GORLIN SYNDROME 1, AGAMMAGLOBULINEMIA 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PALLISTER-HALL SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, DYSAUTONOMIA, FAMILIAL, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, KABUKI SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, LOEYS-DIETZ SYNDROME 4, 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, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

GAS8, CAV1, PROC, FGFR1, KMT2A, ADRB2, NAA10, ORC1, RAG1, CD8A, CIITA, PEX6, TAP1, F2, TBX3, AGT, IRF7, CDK5, ASCC1, UBA1, EDN1, GJA1, EIF4A3, B2M, STK11, CFL2, EGR2, WT1, SIX3, BAG3, COL1A1, DNM2, DES, PKHD1, EFEMP2, BMPER, POR, UNG, WNT4, TBK1, PRKAG2, IL13, COL2A1, SF3B4, ERBB4, RARB, ACTA1, VRK1, GRIP1, IL1RN, KRAS, NFKB2, ERBB3, IL10, CASP8, PTPRC, CREBBP, IRF5, CD79A, SQSTM1, NOTCH1, ALDH7A1, MYCN, ASNS, TNF, GATA2, EDNRA, CD3E, LEP, COL1A2, PIK3CD, NFKBIA, AIFM1, CBL, SMARCE1, IKBKAP, CCND1, CRLF1, JAK2, STAT1, NKX2-1, MPZ, FGFR3, GDNF, HSPD1, IL7R, TP63, AHI1, TYK2, SNAP25, IGKC, PAX8, PTCH1, CAV3, ALPL, REN, CSF2RB, TGFB2, SMAD4, AGTR1, F13A1, CEP290, HLA-DRB1, LRP5, CASR, CTSD, SOX9, VHL, ALOX5, BCS1L, ACVR1, BMP2, FOXG1, NDN, AKT1, FZD6, PRKDC, ASCL1, CFTR, WAS, MED12, LRP2, IKBKB, IL17RA, SKI, GLI3, TINF2, ITCH, PTEN, ECHS1, MUSK, MECP2, ACVRL1, BTK, RUNX2, OCLN, POLA1, LCK, NRAS, FLNA, BIN1, CYBB, DOCK8, TGFB1, PRNP, RFXANK, ATM, JAK3, KMT2D, FGF10, BCL10, NFKB1, STAT3, MT-CO2, TCF4, BLM, BMPR2, FGFR2, PLCG2, TBX1, SALL4, CDKN1B, CPOX, CRYAB, BDNF, RET, FOXF1, SYNE2, HRAS, EGFR, DNMT3B, ADA, EPOR, MYH11, SELP, TSC1, PIK3R1, ACE, KIF1BP, SHH

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMMUNODEFICIENCY 15, LEUKODYSTROPHY, HYPOMYELINATING, 4, OSTEOGLOPHONIC DYSPLASIA, 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, HETEROTAXY, VISCERAL, 2, AUTOSOMAL, IMMUNODEFICIENCY 21, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OSTEOGENESIS IMPERFECTA, TYPE II, FEINGOLD SYNDROME, {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, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PRIMARY PULMONARY HYPERTENSION, CUTIS LAXA, AD, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, AURICULOCONDYLAR SYNDROME 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, IMMUNODEFICIENCY 36, CORNELIA DE LANGE SYNDROME 1, 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, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, EHLERS-DANLOS SYNDROME, TYPE IV, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

ACTA1, SOX9, CAV1, SHH, FBLN5, CBL, COL1A1, ACVRL1, SMAD4, NOTCH1, IRF5, BMPR2, SQSTM1, TGFB1, COL3A1, MYCN, TGFB2, AGT, SMAD9, GATA2, FGFR1, STAT3, USP9X, BMP2, LTBP2, COL1A2, TRPS1, AKT1, KMT2A, PAX8, IL10, CCND1, ENG, PIK3R1, CDKN1B, IKBKB, F2, HSPD1, EDN1, HRAS, LTBP4, EGFR, ALPL, PTEN, MYH11, CREBBP, HAMP, HSPG2, TNF, ACVR1, HFE2, CFC1, RUNX2, SKI

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, 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, MYASTHENIC SYNDROME, CONGENITAL, 10, ATELOSTEOGENESIS, TYPE I, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, ?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, IMMUNODEFICIENCY, COMMON VARIABLE, 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, ?OSTEOGENESIS IMPERFECTA, TYPE X, 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, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, 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, METATROPIC DYSPLASIA, 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, DUANE-RADIAL RAY SYNDROME, 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}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, SADDAN, IMMUNODEFICIENCY 35, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, VLCAD DEFICIENCY, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, LARSEN SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, 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, FEINGOLD SYNDROME, RUBINSTEIN-TAYBI SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY, COMMON VARIABLE, 13, PEUTZ-JEGHERS SYNDROME, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, DYSKERATOSIS CONGENITA, X-LINKED, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, AURICULOCONDYLAR SYNDROME 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, 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, 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, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, COMMON VARIABLE IMMUNODEFICIENCY 1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, GAUCHER DISEASE, TYPE I, IMMUNODEFICIENCY, COMMON VARIABLE, 6, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 3-M SYNDROME 1, OSTEOGLOPHONIC DYSPLASIA, AGAMMAGLOBULINEMIA 6, ?IMMUNODEFICIENCY 37, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, ATAXIA-TELANGIECTASIA, 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, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, SED CONGENITA, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, NIEMANN-PICK DISEASE, TYPE A, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, TUBEROUS SCLEROSIS 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HEMOCHROMATOSIS TYPE 1, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, ?IMMUNODEFICIENCY 13, CHOPS SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BLOOM SYNDROME, ASPARAGINE SYNTHETASE DEFICIENCY, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, MYOPATHY, MYOFIBRILLAR, 2, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, RENAL ADYSPLASIA, KARTAGENER SYNDROME, CUTIS LAXA, AD, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DYSAUTONOMIA, FAMILIAL, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 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, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, ?MYASTHENIC SYNDROME, CONGENITAL, 17, CILIARY DYSKINESIA, PRIMARY, 29, IMMUNODEFICIENCY 36, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, 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, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

TSC2, CAV1, FGFR1, LRP4, NCF1, ADRB2, LAMTOR2, SQSTM1, COL1A2, IKZF1, F2, AGT, IRF7, GNAI3, AGTR1, EDN1, SMPD1, BTK, IL4R, STK11, COL6A1, EGR2, WT1, BAG3, COL1A1, DNM2, DOK7, DES, EFEMP2, ADCY6, CD79B, IL13, COL2A1, CUL7, ERBB4, ACTA1, ACE, GRIP1, ECHS1, KRAS, NFKB2, ERBB3, IL10, ELN, PTPRC, SERPINA1, TBK1, TRPV4, NFKBIA, MYCN, ASNS, DAG1, TNF, GATA2, EDNRA, PRKAG2, LEP, LMNA, PIK3CD, COPA, AFF4, GFPT1, JAK2, AIFM1, CBL, SMARCE1, IKBKAP, CCND1, IFNG, EDN3, TALDO1, CRYAB, MPZ, GDNF, CD81, FKBP14, CREBBP, ACADVL, TP63, KMT2A, TYK2, SNAP25, IGKC, PTCH1, CAV3, RET, DKC1, DDR2, SSR4, TGFB2, SMAD4, CDK5, F13A1, STAT1, LRP5, CASR, DMD, VHL, BMP2, FLNA, IL1RN, MUC7, CYBB, ASCL1, DTNBP1, WAS, EGFR, PHOX2B, LRP2, IKBKB, DCTN1, CASP8, UNC119, GLI3, AKT1, TERT, TTN, PTEN, FGFR3, MUSK, SCGB1A1, RUNX2, OCLN, POLA1, LCK, NRAS, CCNO, CHRNE, BIN1, B2M, PTGER2, PRKCSH, BCL10, ATM, PIP5K1C, CFTR, FGF10, TGFB1, NFKB1, STAT3, MT-CO2, CD19, CARD11, NOTCH1, PLG, SERPINH1, RANBP2, BLM, ECM1, GBA, SALL4, CDKN1B, CPOX, PDGFRA, BDNF, GPC3, HRAS, GJA1, ITGA7, EPOR, MYH11, HSPG2, SELP, TSC1, PIK3R1, TINF2, FLNB, PCK1, GPD1L, SHH

ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA 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, CD8 DEFICIENCY, FAMILIAL, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, COMPLEMENT FACTOR I DEFICIENCY, ?IMMUNODEFICIENCY 37, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, KAPPA LIGHT CHAIN DEFICIENCY, TUBEROUS SCLEROSIS 2, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, DUANE-RADIAL RAY SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, ENCEPHALOPATHY, NEONATAL SEVERE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

LCK, IL7R, GJA1, TNFRSF13C, ICOS, SMAD4, IL4R, IL10, IRF5, CD8A, BCL10, SQSTM1, MECP2, ATM, STAT1, TNF, TGFB1, IGKC, HLA-DRB1, EDNRA, CR2, CD3E, AKT1, JAK2, BTK, PRKDC, EXOSC3, B2M, PTPRC, CFI, CDKN1B, SALL4, JAK3, TBX21, HLA-G, HSPD1, RUNX2, EGFR, IFNG, PTEN, CREBBP, ADA, STAT3, TYK2, HFE, IRF7, PIK3R1

SHPRINTZEN-GOLDBERG SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, FRASER SYNDROME, 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, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OSTEOGENESIS IMPERFECTA, TYPE II, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, 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, MYHRE SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, SED CONGENITA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, KNIEST DYSPLASIA, PRIMARY PULMONARY HYPERTENSION, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, {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, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, JOUBERT SYNDROME-3, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, PROTEUS SYNDROME, SOMATIC

ACTA1, SOX9, GJA1, ERBB3, SMAD4, TGFB1, COL1A2, BMPR2, AGT, FGFR1, BMP2, LEP, AHI1, AKT1, PAX8, IL10, CCND1, CDKN1B, FBN1, BDNF, PHOX2B, EGFR, BMPER, FREM2, HSPG2, SKI, COL2A1, RUNX2, SHH

BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACHONDROPLASIA, 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, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, AURICULOCONDYLAR SYNDROME 1, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, CROUZON SYNDROME, WISKOTT-ALDRICH SYNDROME, DYSTONIA 25, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], APERT SYNDROME, AURICULOCONDYLAR SYNDROME 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, IMMUNODEFICIENCY 36, PULMONARY HYPERTENSION, PRIMARY, 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, RENAL TUBULAR DYSGENESIS, SADDAN, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

CAV3, CAV1, EDNRA, CBL, PRKCSH, TGFB1, MS4A2, GNAL, CASR, AGT, GNAI3, STAT3, AGTR1, LEP, EDN1, FGFR2, FGFR1, CFTR, PDGFRA, AKT1, HRAS, EGFR, FGFR3, ADCY6, HSPG2, WAS, RUNX2, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, OSTEOGLOPHONIC DYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?IMMUNODEFICIENCY 39, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, RENAL ADYSPLASIA, SED CONGENITA, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {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, TUBEROUS SCLEROSIS 2, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, LOEYS-DIETZ SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

TGFB2, CASP8, TGFB1, JAK3, F2, FGF10, IRF7, FGFR1, STAT3, BMP2, AKT1, SMARCE1, IFNG, TERT, BDNF, RET, GDNF, EGFR, PTEN, TNF, PRKAG2, COL2A1

RENAL TUBULAR DYSGENESIS, 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, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PULMONARY HYPERTENSION, PRIMARY, 3, DUCHENNE MUSCULAR DYSTROPHY, TUBEROUS SCLEROSIS-1, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, OTOPALATODIGITAL SYNDROME, TYPE II, PROTEUS SYNDROME, SOMATIC, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, FRONTOMETAPHYSEAL DYSPLASIA, RENAL ADYSPLASIA, MELNICK-NEEDLES SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME

TSC2, EDN1, KRAS, FLNA, CCND1, AGT, IL7R, DMD, WT1, CAV3, TSC1, CAV1, RET, AKT1, PTEN, HRAS

BASAL CELL NEVUS SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, GLUTAMINE DEFICIENCY, CONGENITAL, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, AMYOTROPHIC LATERAL SCLEROSIS 19, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, HYPOPHOSPHATASIA, INFANTILE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DUANE-RADIAL RAY SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {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, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CILIARY DYSKINESIA, PRIMARY, 33, FEINGOLD SYNDROME, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, IMMUNODEFICIENCY, COMMON VARIABLE, 10, 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}, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, VELOCARDIOFACIAL SYNDROME, PRIMARY PULMONARY HYPERTENSION, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, PRADER-WILLI SYNDROME, SADDAN, TUBEROUS SCLEROSIS 2, HERMANSKY-PUDLAK SYNDROME 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, BEARE-STEVENSON CUTIS GYRATA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, SED CONGENITA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, 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, KEUTEL SYNDROME, HEMOCHROMATOSIS TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, PULMONARY HYPERTENSION, PRIMARY, 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, 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, OPITZ-KAVEGGIA SYNDROME, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MYOPATHY, MYOFIBRILLAR, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, RENAL ADYSPLASIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, AGAMMAGLOBULINEMIA 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, 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, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, KABUKI SYNDROME 1, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

TSC2, DNM2, CAV1, COL1A1, COL1A2, CYBA, AGT, ASCC1, BTK, STK11, ENG, SALL4, ERBB4, GAS8, BMPER, WNT4, CREBBP, ECM1, COL2A1, SF3B4, PTEN, ACTA1, SOX9, GRIP1, KRAS, ERBB3, TBK1, CD79A, IFT172, GLUL, TNF, GATA2, EDNRA, LEP, PIK3CD, CCND1, IFNG, NKX2-1, F2, TP63, TBX1, BMPR2, PTCH1, GPC3, ALPL, GJA1, CCL11, SMAD4, STAT1, TGFB2, CASR, NFKB2, VHL, BMP2, NDN, AKT1, TPI1, PRKDC, CFTR, WAS, MED12, LRP2, ATP5A1, TBX21, GLI3, ITCH, PEX5, FGFR3, MUSK, MGP, ACVRL1, STAT3, RUNX2, FLNA, TGFB1, SOST, SCN5A, KMT2D, AP3B1, FGF10, ACVR1, NOTCH1, PLG, IL13, FGFR2, LRP5, CDKN1B, MYCN, CRYAB, BDNF, RET, CHAT, HRAS, EGFR, SFTPC, IKBKB, HSPG2, SKI, TINF2, TUFM, PORCN, SHH

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, PULMONARY HYPERTENSION, PRIMARY, 3, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, SENGERS SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, BLOOM SYNDROME, IMMUNODEFICIENCY 8, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, CARDIOMYOPATHY, HYPERTROPHIC, 17, NON-IMMUNE HYDROPS FETALIS, TRIFUNCTIONAL PROTEIN DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, IMMUNODEFICIENCY 14, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MELNICK-NEEDLES SYNDROME, RUBINSTEIN-TAYBI SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, MYOTUBULAR MYOPATHY, X-LINKED, OSTEOGENESIS IMPERFECTA, TYPE II, CUTIS LAXA, AD, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, MYOPATHY, MYOFIBRILLAR, 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, AURICULOCONDYLAR SYNDROME 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CORNELIA DE LANGE SYNDROME 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 36, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, ENCEPHALOPATHY, NEONATAL SEVERE, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, OPSISMODYSPLASIA, 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, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY, COMMON VARIABLE, 6, SMITH-LEMLI-OPITZ SYNDROME, PROTEUS SYNDROME, SOMATIC

PEX5, LCK, GLE1, PIGN, CAV1, BIN1, GJA1, CAV3, ADRB2, CDK5, INPP5E, PTEN, SLC22A4, DPM1, DHCR7, PLCG2, PIGT, TGFB1, MECP2, ATM, HSPG2, PIP5K1C, FLNA, TNF, CD79A, RYR1, STAT3, BCS1L, COL1A1, LEP, NOTCH1, PIK3CD, COPA, AKT1, BMP2, HADHA, KMT2A, INPPL1, HADHB, CBL, SLC25A1, CFL2, ETFA, LIPA, CASP8, ELOVL4, LRP2, ELN, AGK, DES, CHAT, EDN1, HRAS, FCGR2B, EGFR, PIGC, KRAS, JPH2, ECHS1, DPM2, CREBBP, SCGB1A1, SELP, TP63, TUFM, BLM, MTM1, SSR4, CD81, GPD1L, CORO1A, PIK3R1

BASAL CELL NEVUS SYNDROME, 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, 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, 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, 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, DYSAUTONOMIA, FAMILIAL, MYOPATHY, TUBULAR AGGREGATE, 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, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, 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, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, SADDAN, INSOMNIA, FATAL FAMILIAL, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, 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, 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, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CD8 DEFICIENCY, FAMILIAL, ?IMMUNODEFICIENCY 22, DYSTONIA 27, 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}, DIAPHANOSPONDYLODYSOSTOSIS, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, CENTRONUCLEAR MYOPATHY 5, PRIMARY PULMONARY HYPERTENSION, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, PSEUDOHYPOALDOSTERONISM, TYPE I, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, PITT-HOPKINS-LIKE SYNDROME 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?TETRA-AMELIA SYNDROME, BETHLEM MYOPATHY 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 36, BEARE-STEVENSON CUTIS GYRATA SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, TIMOTHY SYNDROME, ATAXIA-TELANGIECTASIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, DYSTONIA 25, {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, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PULMONARY HYPERTENSION, PRIMARY, 3, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE IV, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, LARYNGOONYCHOCUTANEOUS SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, AGAMMAGLOBULINEMIA 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PALLISTER-HALL SYNDROME, TUMOR PREDISPOSITION SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

CAV1, COL1A1, CD8A, COL3A1, NRXN1, F2, AGT, CDK5, ASCC1, UBA1, EDN1, BTK, COL6A3, EGR2, SALL4, IKBKAP, NFKBIA, SIX3, BMPER, ADCY6, CNTNAP1, BAP1, ERBB4, ACTA1, SOX9, GRIP1, KRAS, ERBB3, CREBBP, COL6A2, CD79A, NOTCH1, DAG1, TNF, FGFR1, SCNN1A, COL1A2, CFL2, AGRN, AIFM1, CBL, COL2A1, CCND1, JAK2, SPEG, GDNF, NKX2-1, LAMA3, STAT3, PTPRC, PAM16, BMPR2, PTCH1, STIM1, GPC3, ALPL, ITGA8, BLNK, SMAD4, COL5A1, LAMA2, STAT1, TGFB2, CASR, CNTN1, VHL, USP9X, BMP2, AKT1, ASCL1, EGFR, ATP1A3, GLI3, FBN2, ITCH, KCNQ2, PTEN, FGFR3, MUSK, HAMP, RUNX2, LCK, NRAS, FLNA, BIN1, PRNP, TGFB1, WNT3, COL5A2, ATM, GNAL, FGF10, ACVR1, CACNA1C, TCF4, COL6A1, IL13, SCN5A, FGFR2, PLCG2, PIK3R1, CDKN1B, PIP5K1C, BDNF, FBN1, RET, ARX, HRAS, LRP2, DNMT3B, SELP, MYH11, HSPG2, HFE2, TINF2, ISPD, SHH

BASAL CELL NEVUS SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 8, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, RENAL ADYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, ?TETRA-AMELIA SYNDROME, PEUTZ-JEGHERS SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, RUBINSTEIN-TAYBI SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, SED CONGENITA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, KNIEST DYSPLASIA, RENAL TUBULAR DYSGENESIS, PRIMARY PULMONARY HYPERTENSION, OSTEOGENESIS IMPERFECTA, TYPE II, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, CROUZON SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, APERT SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, AURICULOCONDYLAR SYNDROME 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, PULMONARY HYPERTENSION, PRIMARY, 3, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, ENCEPHALOPATHY, NEONATAL SEVERE, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, OSTEOGENESIS IMPERFECTA, TYPE III, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

ACTA1, PTCH1, LMNA, CAV1, KRAS, CDK5, ERBB3, COL1A1, CDKL5, NOTCH1, FOXG1, UBA1, TGFB1, SQSTM1, SOST, FTL, FLNA, CASR, AGT, CORO1A, FGFR1, LEP, AGTR1, BMP2, MECP2, CFL2, EDN1, LCK, GJA1, FGFR2, STK11, COL2A1, CCND1, EGR2, EFEMP2, WNT3, RET, AKT1, HRAS, EGFR, PTEN, CREBBP, HSPG2, TNF, STAT3, ASCC1, BMPR2, CNTNAP1, OCLN, PIK3R1, LRP4

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, SED CONGENITA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, KNIEST DYSPLASIA, PRIMARY PULMONARY HYPERTENSION, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, PULMONARY VENOOCCLUSIVE DISEASE 1, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, PROTEUS SYNDROME, SOMATIC

ACTA1, CCBE1, SOX9, TGFB2, ERBB3, COL1A1, TNF, TGFB1, NOTCH1, FLNA, CASR, AGT, FGFR1, LEP, BMP2, PLG, AKT1, ITGA3, LRP2, CRYAB, NKX2-1, EDN1, HRAS, EGFR, BMPER, F13A1, FGF10, ASCC1, BMPR2, COL2A1, SHH

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, BASAL CELL NEVUS SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, SINGLETON-MERTEN SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 10, ATELOSTEOGENESIS, TYPE I, ?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, NIJMEGEN BREAKAGE SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, ?OSTEOGENESIS IMPERFECTA, TYPE X, PULMONARY VENOOCCLUSIVE DISEASE 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, 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, MYOPATHY, TUBULAR AGGREGATE, 1, HERMANSKY-PUDLAK SYNDROME 1, HYPOPHOSPHATASIA, INFANTILE, 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, 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, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, 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, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, IMMUNODEFICIENCY 35, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, BIRT-HOGG-DUBE SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, VLCAD DEFICIENCY, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, 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, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, LARSEN SYNDROME, 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, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, 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}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], ?RENAL HYPODYSPLASIA/APLASIA 2, PRIMARY PULMONARY HYPERTENSION, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, 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, MYOPATHY, MYOFIBRILLAR, 1, KAPPA LIGHT CHAIN DEFICIENCY, SADDAN, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OPSISMODYSPLASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, COMMON VARIABLE IMMUNODEFICIENCY 1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, 3-M SYNDROME 1, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, AGAMMAGLOBULINEMIA 6, ?IMMUNODEFICIENCY 37, TIMOTHY SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, ATAXIA-TELANGIECTASIA, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, SED CONGENITA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, IMMUNODEFICIENCY, COMMON VARIABLE, 7, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, DYSTONIA 25, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, TUBEROUS SCLEROSIS 2, 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, OPITZ GBBB SYNDROME, TYPE I, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, PNEUMOTHORAX, PRIMARY SPONTANEOUS, ENCEPHALOPATHY, NEONATAL SEVERE, EHLERS-DANLOS SYNDROME, TYPE IV, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, ?IMMUNODEFICIENCY 13, COLD-INDUCED SWEATING SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 13, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, VELOCARDIOFACIAL SYNDROME, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ASPARAGINE SYNTHETASE DEFICIENCY, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, GELEOPHYSIC DYSPLASIA 2, MYOPATHY, MYOFIBRILLAR, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CROUZON SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, METATROPIC DYSPLASIA, C1R/C1S DEFICIENCY, COMBINED, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, WISKOTT-ALDRICH SYNDROME, PALLISTER-HALL SYNDROME, TUMOR PREDISPOSITION 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, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, ?MYASTHENIC SYNDROME, CONGENITAL, 17, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LOEYS-DIETZ SYNDROME 4, DYSAUTONOMIA, FAMILIAL, 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, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

TSC2, CAV1, EDNRA, LRP4, NCF1, ADRB2, LAMTOR2, MID1, IFIH1, SQSTM1, COL3A1, RPL5, IKZF1, F2, AGT, TP63, IRF7, AGTR1, EDN1, DDR2, BTK, IL4R, STK11, COL6A1, ENG, EGR2, WT1, BAG3, COL1A1, DNM2, DOK7, DES, NBN, ITGA8, BMPER, AGRN, WNT4, TBK1, PRKAG2, COL2A1, CUL7, SF3B4, ERBB4, ACTA1, ACE, GRIP1, ECHS1, KRAS, NFKB2, ERBB3, CBL, CASP8, PTPRC, SERPINA1, ADCY6, IRF5, TRPV4, NOTCH1, MYCN, ASNS, TNF, IL21, FGFR1, CD79B, CD3E, LEP, LMNA, COL1A2, BAP1, COPA, GFPT1, JAK2, AIFM1, DSP, SMARCE1, IKBKAP, CCND1, CRLF1, IFNG, STAT1, EDN3, NKX2-1, FLCN, CRYAB, GDNF, HSPD1, CD81, FKBP14, OCLN, ACTA2, CREBBP, ACADVL, STAT3, KMT2A, TYK2, SNAP25, COL11A2, BMPR2, PTCH1, CAV3, STIM1, RET, ALPL, GJA1, TNPO3, SOX9, TGFB2, SMAD4, CDK5, F13A1, SMAD9, MECP2, ECM1, C1R, HLA-DRB1, LRP5, CASR, DMD, VHL, ALOX5, ACVR1, BMP2, FGF20, SSR4, IL1RN, MUC7, FZD6, INPPL1, PRKDC, MRPL3, DTNBP1, LRP2, ATP1A3, IL21R, IKBKB, IGKC, DCTN1, UNC119, SKI, GLI3, AKT1, PTEN, FGFR3, MUSK, HAMP, ACVRL1, RUNX2, EPOR, POLA1, LCK, NRAS, FLNA, CHRNE, BIN1, B2M, CYBB, IL10, PTGER2, PRKCSH, TGFB1, ATM, GNAL, CFTR, FGF10, BCL10, REN, NFKB1, WAS, MT-CO2, CACNA1C, CARD11, PLG, SERPINH1, IL13, FGFR2, TBX1, SALL4, CDKN1B, PDGFRA, BDNF, FBN1, GPC3, CHAT, GALNT14, FOXF1, HRAS, EGFR, DNMT3B, SFTPC, NHP2, MYH11, HSPG2, SELP, CR2, PIK3R1, TINF2, FLNB, SHH

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, DYSAUTONOMIA, FAMILIAL, HYPOPHOSPHATASIA, INFANTILE, 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, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, IMMUNODEFICIENCY 35, INSOMNIA, FATAL FAMILIAL, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, BIRT-HOGG-DUBE SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, PNEUMOTHORAX, PRIMARY SPONTANEOUS, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, 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, FEINGOLD 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}, DYSKERATOSIS CONGENITA, X-LINKED, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, 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, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NIEMANN-PICK DISEASE, TYPE A, ?IMMUNODEFICIENCY 37, NESTOR-GUILLERMO PROGERIA SYNDROME, ATAXIA-TELANGIECTASIA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, 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, ?IMMUNODEFICIENCY 22, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PLEUROPULMONARY BLASTOMA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MYHRE SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, RENAL ADYSPLASIA, AGAMMAGLOBULINEMIA 3, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 17, GAUCHER DISEASE, TYPE I, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, GAUCHER DISEASE, TYPE II, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PULMONARY VENOOCCLUSIVE DISEASE 2, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

TSC2, CAV1, LRP4, NCF1, ADRB2, SQSTM1, AGT, GNAI3, CDK5, EDN1, SMPD1, BTK, IL4R, STK11, SPINK1, ENG, EGR2, ITCH, EFEMP2, CREBBP, PRKAG2, IKBKAP, ACTA1, SOX9, KRAS, ERBB3, IL10, CASP8, FLCN, TBK1, CD79A, MYCN, DAG1, TNF, GATA2, EDNRA, JAK2, CBL, CCND1, IFNG, PTH1R, GDNF, HSPD1, STAT3, KMT2A, TYK2, SNAP25, CAV3, BANF1, ALPL, GJA1, SMAD4, SMAD9, STAT1, CASR, DMD, BMP2, AKT1, EIF2AK4, PRKDC, ASCL1, CFTR, LRP2, IKBKB, TERT, PTEN, RUNX2, LCK, NRAS, LRP5, BIN1, PRNP, BCL10, PRKCSH, ATM, PIP5K1C, TGFB1, DICER1, DKC1, CD19, FKTN, PTPRC, GBA, CDKN1B, PDGFRA, BDNF, RET, HRAS, EGFR, SELP, PIK3R1, TINF2, GPD1L, SHH

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, BROWN-VIALETTO-VAN LAERE SYNDROME 2, ATELOSTEOGENESIS, TYPE I, SELECTIVE T-CELL DEFECT, 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, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, DYSAUTONOMIA, FAMILIAL, SICKLE CELL ANEMIA, HYPOPHOSPHATASIA, INFANTILE, 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, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, 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 TUBULAR DYSGENESIS, IMMUNODEFICIENCY 35, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, {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, 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, CD8 DEFICIENCY, FAMILIAL, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SINGLETON-MERTEN SYNDROME 1, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, DIAMOND-BLACKFAN ANEMIA 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, KAPPA LIGHT CHAIN DEFICIENCY, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, VAN DEN ENDE-GUPTA SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?IMMUNODEFICIENCY 37, NESTOR-GUILLERMO PROGERIA SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY, COMMON VARIABLE, 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ATAXIA-TELANGIECTASIA, NIEMANN-PICK DISEASE, TYPE C2, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, SED CONGENITA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, TUBEROUS SCLEROSIS 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PULMONARY HYPERTENSION, PRIMARY, 3, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ENCEPHALOPATHY, NEONATAL SEVERE, EHLERS-DANLOS SYNDROME, TYPE IV, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, RENPENNING SYNDROME, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PLEUROPULMONARY BLASTOMA, {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, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, C1R/C1S DEFICIENCY, COMBINED, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, PALLISTER-HALL SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, PEELING SKIN SYNDROME 1, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

NEU1, CAV1, HBB, ADRB2, MFN2, CD8A, CIITA, GLI3, COL3A1, RPL5, CYBA, AGT, IRF7, MUC5B, AGTR1, UBA1, EDN1, REN, BTK, IL4R, CCL11, EGR2, IL21R, DNM2, NFKBIA, EFEMP2, POR, TBK1, COL2A1, PTEN, ACTA1, VRK1, PRSS2, IFIH1, TGFB2, F13A1, KRAS, NFKB2, ERBB3, IL10, CASP8, CREBBP, IRF5, SQSTM1, NOTCH1, DAG1, TNF, IL21, EDNRA, HAVCR1, LEP, COL1A2, PIK3CD, COPA, GFPT1, JAK2, CBL, IKBKAP, CCND1, IFNG, IGHM, SSR4, NKX2-1, NCF2, NDUFS2, F2, HSPD1, TMEM173, ACTA2, NLRP1, AICDA, TP63, TYK2, SNAP25, IGKC, NCF1, BANF1, ALPL, GJA1, IL2RA, ACE, SMAD4, CDK5, CSF2RB, MECP2, C1R, HLA-DRB1, CASR, CTSD, PQBP1, LIAS, SLC52A2, BMP2, AKT1, CYBB, TPI1, PRKDC, MRPL3, CFTR, WAS, SEC63, EGFR, ATP1A3, EPOR, TBX21, DCTN1, HLA-G, ITCH, ERBB4, IL1RN, HAMP, SCGB1A1, NPC2, ACP5, TAPBP, NFKBIL1, RUNX2, OCLN, LCK, DDX41, FLNA, BIN1, B2M, PTGER2, PRKCSH, BCL10, RFXANK, ATM, FGF10, TGFB1, DICER1, STAT1, NFKB1, STAT3, MT-CO2, CD19, KCNJ8, PLG, SCARF2, IL13, PLCG2, PTPRC, CDKN1B, BDNF, FBN1, HNMT, FLNB, HRAS, LRP2, CDSN, SFTPC, NHP2, ZAP70, IKBKB, HSPG2, SELP, CR2, PIK3R1, TINF2, HFE, GATA2, SHH

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, IMMUNODEFICIENCY 15, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HYPER-IGE RECURRENT INFECTION SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, 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, {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, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, IMMUNODEFICIENCY 36, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, PULMONARY HYPERTENSION, PRIMARY, 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, RENAL TUBULAR DYSGENESIS, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35, PROTEUS SYNDROME, SOMATIC

LCK, CAV1, KRAS, CREBBP, BCL10, STAT1, FLNA, CASR, AGT, TGFB1, IRF7, VHL, STAT3, CDK5, EDN1, JAK2, BTK, AIFM1, PTPRC, CCND1, SELP, IFNG, IKBKB, DCTN1, AKT1, EGFR, MUSK, IL1RN, TBK1, HSPG2, TNF, ECM1, TYK2, PTEN, PIK3R1

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, 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, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, {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, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, SED CONGENITA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, MYOTUBULAR MYOPATHY, X-LINKED, PRIMARY PULMONARY HYPERTENSION, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, PEELING SKIN SYNDROME 1, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, AGAMMAGLOBULINEMIA 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, HYPOPHOSPHATASIA, INFANTILE, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, APLASIA OF LACRIMAL AND SALIVARY GLANDS, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, GELEOPHYSIC DYSPLASIA 2, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, FRONTOMETAPHYSEAL DYSPLASIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

ACTA1, CCBE1, SOX9, TGFB2, CDSN, ERBB3, COL1A1, SMAD4, TNF, CD79A, FLNA, NOTCH1, ACVRL1, CASR, LEP, AGT, TGFB1, GATA2, TP63, CDK5, BMP2, PLG, AKT1, BTK, PRKDC, CCND1, ITGA3, LRP2, CRYAB, NKX2-1, FBN1, DNM2, EDN1, HRAS, EGFR, ALPL, BMPER, PTEN, F13A1, IKBKB, HAMP, FGF10, STAT3, ASCC1, BMPR2, COL2A1, SHH

BASAL CELL NEVUS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, THANATOPHORIC DYSPLASIA, TYPE II, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, RAINE SYNDROME, FIBROCHONDROGENESIS 2, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, ACHONDROPLASIA, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, CRANIOMETAPHYSEAL DYSPLASIA, FEINGOLD SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, CHONDRODYSPLASIA, BLOMSTRAND TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, RUBINSTEIN-TAYBI SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, PULMONARY VENOOCCLUSIVE DISEASE 1, ULNAR-MAMMARY SYNDROME, SED CONGENITA, ?IMMUNODEFICIENCY 37, KNIEST DYSPLASIA, PRIMARY PULMONARY HYPERTENSION, OSTEOGLOPHONIC DYSPLASIA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE II, HYPOPHOSPHATASIA, INFANTILE, PALLISTER-HALL SYNDROME, PRADER-WILLI SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, AURICULOCONDYLAR SYNDROME 3, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, 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, RETT SYNDROME, CONGENITAL VARIANT, GELEOPHYSIC DYSPLASIA 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SADDAN, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

PTCH1, SOX9, TAPT1, ALPL, SHH, KRAS, GJA1, FAM20C, SUFU, SMAD4, NOTCH1, COL5A2, FOXG1, TGFB1, FLNA, COL3A1, ARSB, PTH1R, FGF10, F2, TBX3, TNF, TP63, COL11A2, VHL, TCF4, COL5A1, DLL3, ANKH, EBP, TRPS1, COL1A2, PLG, CPOX, NDN, AKT1, BMP2, CYBB, PRKDC, BMPR2, MYH7, FGFR1, CCND1, FBN2, SALL4, MYCN, FBN1, TBX21, BCL10, COL1A1, GPC3, GLI3, EDN1, HRAS, EGFR, BMPER, WNT4, PTEN, HES7, FGFR3, TERT, CREBBP, HSPG2, AGT, STAT3, DDR2, SIX3, COL2A1, RUNX2, SF3B4, GATA2, PAX8

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, DYSTONIA 6, TORSION, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, METATROPIC DYSPLASIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FAMILIAL MEDITERRANEAN FEVER, AR, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PITT-HOPKINS SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 35, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, DYSKERATOSIS CONGENITA, X-LINKED, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, MARTSOLF SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 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, ?IMMUNODEFICIENCY 13, HERMANSKY-PUDLAK SYNDROME 2, VAN DEN ENDE-GUPTA SYNDROME, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, IMMUNODEFICIENCY 36, SERKAL SYNDROME, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, ?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, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, 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, FAMILIAL MEDITERRANEAN FEVER, AD, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, CROUZON SYNDROME, PALLISTER-HALL SYNDROME, TUMOR PREDISPOSITION SYNDROME, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

F2, FGFR1, ADRB2, MFN2, SQSTM1, COL1A2, FTL, AGT, THAP1, CDK5, ASCC1, EDN1, EIF4A3, CFL2, RANBP2, WT1, COL1A1, DNM2, DES, APOPT1, BMPER, MEFV, WNT4, CREBBP, COL2A1, BAP1, ERBB4, ACTA1, KRAS, NIPBL, CASP8, SERPINA1, TBK1, NOTCH1, TNF, EDNRA, PIK3CD, JAK2, CBL, CCND1, IFNG, PTH1R, EDN3, NCF2, GDNF, ACTA2, WAS, TYK2, SNAP25, CAV3, DKC1, GJA1, CCL11, RAB3GAP2, AGTR1, SMAD9, STAT1, LRP5, CASR, DMD, BMP2, NDN, AKT1, TPI1, CARD11, LRP2, ATP5A1, IKBKB, GLI3, ITCH, KCNQ2, PTEN, TRPV4, MUSK, RUNX2, LCK, FLNA, BIN1, TGFB1, RFXANK, AP3B1, FGF10, STAT3, TCF4, PLG, SCARF2, FGFR2, CDKN1B, BDNF, FBN1, UNC119, HRAS, EGFR, DNMT3B, SELP, MYH11, HSPG2, PIK3R1, TINF2, SHH

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, BASAL CELL NEVUS SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ATAXIA-TELANGIECTASIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, FILS SYNDROME, BIRT-HOGG-DUBE SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, THANATOPHORIC DYSPLASIA, TYPE I, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, JOUBERT SYNDROME 6, RESTRICTIVE DERMOPATHY, LETHAL, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, COACH SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, {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}, DYSKERATOSIS CONGENITA, X-LINKED, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 8, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, RENAL TUBULAR DYSGENESIS, MYOTUBULAR MYOPATHY, X-LINKED, COFFIN-SIRIS SYNDROME 1, RUBINSTEIN-TAYBI SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE II, CROUZON SYNDROME, OPITZ GBBB SYNDROME, TYPE II, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OPITZ-KAVEGGIA SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, AMYOTROPHIC LATERAL SCLEROSIS 17, SHWACHMAN-DIAMOND SYNDROME, TUMOR PREDISPOSITION SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, PNEUMOTHORAX, PRIMARY SPONTANEOUS, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, VAN DEN ENDE-GUPTA SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 3, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, GLUTAMINE DEFICIENCY, CONGENITAL, OPITZ GBBB SYNDROME, TYPE I, GELEOPHYSIC DYSPLASIA 2, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, OSTEOGENESIS IMPERFECTA, TYPE III, SADDAN, CORNELIA DE LANGE SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

ACTA1, PTCH1, CAV3, CHMP2B, CAV1, FGFR3, KRAS, CBL, COL1A1, SMAD4, PTEN, FLCN, INPP5E, TGFB1, CCND1, MECP2, ATM, GLUL, FTL, F2, AGT, DMD, VHL, DKC1, MID1, TAF6, SCARF2, NOTCH1, PLG, AKT1, BMP2, BIN1, POLE, PRKDC, FGFR2, SMARCE1, PIK3CD, LMNA, CDKN1B, STAT1, FBN1, EPOR, DCTN1, DNM2, GATA2, SYNE2, HRAS, TMEM67, EGFR, AICDA, POR, ACTA2, SBDS, MED12, TERT, CREBBP, TNF, STAT3, BAP1, TINF2, JAK2, DNMT3B, SPECC1L, CORO1A, SKI

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HYPER-IGE RECURRENT INFECTION SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ASPARAGINE SYNTHETASE DEFICIENCY, TUBEROUS SCLEROSIS 2, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {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, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, 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}, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, PRIMARY PULMONARY HYPERTENSION, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, 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, HYPERPARATHYROIDISM, NEONATAL, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, OPSISMODYSPLASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PULMONARY HYPERTENSION, PRIMARY, 3, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, GLUTAMINE DEFICIENCY, CONGENITAL, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

TUFM, TSC2, CAV1, KRAS, SMAD4, PTEN, SQSTM1, TGFB1, GLUL, ASNS, CASR, FGF10, DMD, PRKAG2, CDK5, LEP, AKT1, BMP2, EIF2AK4, INPPL1, PRKDC, BMPR2, MEGF10, CCND1, WT1, BDNF, RUNX2, HRAS, EGFR, WNT4, MUSK, HAMP, TNF, ACVR1, CFTR, PAX8, STAT3, HFE, OCLN, SHH

HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PLEUROPULMONARY BLASTOMA, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ?IMMUNODEFICIENCY 37, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?IMMUNODEFICIENCY 39, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, KAPPA LIGHT CHAIN DEFICIENCY, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, AGAMMAGLOBULINEMIA, X-LINKED 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, IMMUNODEFICIENCY 36, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

TMEM173, STAT1, IRF7, B2M, PIK3R1, TNF, CIITA, NFKBIA, EGFR, TBK1, STAT3, IGKC, KCNJ8, CREBBP, BCL10, BTK, TGFB1, AKT1, SNIP1, DICER1

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, OSTEOGLOPHONIC DYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, POLYCYSTIC LIVER DISEASE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, {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, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CHONDRODYSPLASIA, BLOMSTRAND TYPE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, PRADER-WILLI SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AURICULOCONDYLAR SYNDROME 3, IMMUNODEFICIENCY 36, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE II, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SERKAL SYNDROME, PROTEUS SYNDROME, SOMATIC

SOX9, LRP5, EDNRA, COL1A1, TGFB1, NOTCH1, PTH1R, FLNA, CASR, TNF, FGFR1, NDN, AKT1, EIF4A3, CCND1, WT1, EDN3, EDN1, EGFR, WNT4, STAT3, PTEN, PIK3R1

ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, THANATOPHORIC DYSPLASIA, TYPE II, KAPPA LIGHT CHAIN DEFICIENCY, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, SELECTIVE T-CELL DEFECT, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, DONNAI-BARROW SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 7, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 43, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, PALLISTER-HALL SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 2, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, SADDAN, INSOMNIA, FATAL FAMILIAL

LCK, TNFRSF13B, ZAP70, BIN1, IL2RA, ICOS, EGFR, IL4R, CREBBP, PRNP, CIITA, HLA-G, ATM, STAT1, TNF, FOXF1, IGKC, HLA-DRB1, BCL10, IFNG, B2M, CCND1, IL10, JAK2, JAK3, CBL, TGFB1, GLI3, HSPD1, LRP2, PTEN, CTLA4, PTPN22, SCGB1A1, CR2, RUNX2, IRF7, SHH, FGFR3

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 43, 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, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, 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, HYPERPARATHYROIDISM, NEONATAL, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, PROTEUS SYNDROME, SOMATIC