RESPIRATORY

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 15, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, ANGIOEDEMA, HEREDITARY, TYPES I AND II, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, [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}, COMPLEMENT FACTOR I DEFICIENCY, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, C1R/C1S DEFICIENCY, COMBINED, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, KAPPA LIGHT CHAIN DEFICIENCY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

LCK, SFTPA2, NFKB1, ERBB3, IL10, SFTPA1, TGFB1, C1R, STAT1, AGT, IGKC, GNAI3, CDK5, LEP, CFL2, AKT1, IFNG, B2M, PIK3CD, CFI, SELP, JAK2, IKBKB, CASP8, HSPD1, EGFR, ACTA2, SERPING1, TNF, STAT3, PTEN

CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE III, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OSTEOGENESIS IMPERFECTA, TYPE II, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ACROFACIAL DYSOSTOSIS 1, NAGER 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, MYHRE SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, PRIMARY PULMONARY HYPERTENSION, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, LOEYS-DIETZ SYNDROME 4, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

SOX9, CAV1, COL1A1, SMAD4, SMAD9, TGFB2, TNF, TGFB1, FGFR1, ACVR1, CDK5, BMP2, EDN1, CDKN1B, BMPR2, CCND1, IFNG, AKT1, EGFR, BMPER, PTEN, CREBBP, ACVRL1, CFTR, PIK3R1, JAK2, RUNX2, SF3B4, SHH

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CORNELIA DE LANGE SYNDROME 1, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, NON-IMMUNE HYDROPS FETALIS, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, 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, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OSTEOGENESIS IMPERFECTA, TYPE II, THANATOPHORIC DYSPLASIA, TYPE I, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, IMMUNODEFICIENCY 14, ACROFACIAL DYSOSTOSIS 1, NAGER 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, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, ?TETRA-AMELIA SYNDROME, VACTERL ASSOCIATION, X-LINKED, PRIMARY PULMONARY HYPERTENSION, RUBINSTEIN-TAYBI SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, PALLISTER-HALL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, ULNAR-MAMMARY SYNDROME, AURICULOCONDYLAR SYNDROME 3, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DUANE-RADIAL RAY SYNDROME, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, PITT-HOPKINS SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, OSTEOGENESIS IMPERFECTA, TYPE III, SADDAN, IMMUNODEFICIENCY 36, SERKAL SYNDROME, PROTEUS SYNDROME, SOMATIC

NRAS, CAV1, SHH, FZD6, ERBB3, FGFR2, KAT6A, SMAD4, PTEN, WNT3, SMAD9, GDNF, NOTCH1, EDA, JAK3, FLNA, TBX3, FGF10, FGFR1, STAT3, LIFR, TCF4, COL1A2, PIK3CD, EDN1, BMP2, JAK2, KMT2A, CCND1, SALL4, EGR2, WT1, ZIC3, GLI3, AKT1, HRAS, EGFR, KRAS, PORCN, MUSK, FGFR3, CREBBP, ACVR1, BMPR2, RUNX2, SF3B4, WNT4, PIK3R1

HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BASAL CELL NEVUS SYNDROME, NON-IMMUNE HYDROPS FETALIS, APLASIA OF LACRIMAL AND SALIVARY GLANDS, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, POLYCYSTIC LIVER DISEASE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PALLISTER-HALL SYNDROME, PROTEUS SYNDROME, SOMATIC, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, SERKAL SYNDROME, LARYNGOONYCHOCUTANEOUS SYNDROME, ?TETRA-AMELIA SYNDROME

PTCH1, LRP2, CCND1, LRP5, PTCH2, LAMA3, PTEN, RUNX2, SUFU, GLI3, EDA, FGF10, BMP2, WNT4, WNT3, AKT1, PORCN, FZD6, SHH

ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ATAXIA-TELANGIECTASIA, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, FIBROCHONDROGENESIS 2, 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, OTOPALATODIGITAL SYNDROME, TYPE II, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, AURICULOCONDYLAR SYNDROME 1, KNIEST DYSPLASIA, MELNICK-NEEDLES SYNDROME, PRIMARY PULMONARY HYPERTENSION, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, EHLERS-DANLOS SYNDROME, TYPE IV, AURICULOCONDYLAR SYNDROME 2, MYOPATHY, TUBULAR AGGREGATE, 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, 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, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, SED CONGENITA, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, PULMONARY VENOOCCLUSIVE DISEASE 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE II, RENAL TUBULAR DYSGENESIS, FRONTOMETAPHYSEAL DYSPLASIA, OSTEOGENESIS IMPERFECTA, TYPE III, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 9, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

SOX9, STIM1, F2, EDNRA, DDR2, ERBB3, COL1A1, COL5A2, PLCG2, TGFB1, COL1A2, ATM, RPL5, FLNA, CASR, AGT, COL11A2, GNAI3, COL5A1, BMP2, COL3A1, PIK3CD, AKT1, BTK, BMPR2, ORAI1, CCND1, EDN1, HRAS, EGFR, ECHS1, ADCY6, TNF, FCGR2A, CFTR, PLCB4, COL2A1, PIK3R1

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, NON-IMMUNE HYDROPS FETALIS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, LARSEN SYNDROME, OPITZ GBBB SYNDROME, TYPE I, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 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, DYSTONIA 27, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?MYOSCLEROSIS, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FRONTOMETAPHYSEAL DYSPLASIA, RENAL ADYSPLASIA, SED CONGENITA, KNIEST DYSPLASIA, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, LARYNGOONYCHOCUTANEOUS SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ?OSTEOGENESIS IMPERFECTA, TYPE X, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OSTEOGENESIS IMPERFECTA, TYPE II, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, BETHLEM MYOPATHY 1, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, AURICULOCONDYLAR SYNDROME 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, 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}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 5, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, IMMUNODEFICIENCY 36, DONNAI-BARROW SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

SOX9, CAV3, CAV1, ITGA8, CDK5, ACE, ADRB2, SERPINH1, COL5A1, COL6A2, LBR, LAMA2, TNF, TGFB1, FLNA, COL3A1, PIP5K1C, F2, DAG1, COL6A1, AGT, COL11A2, VHL, NEB, MID1, BMP2, COL5A2, COL6A3, EDN1, BIN1, PRKDC, GJA1, PLG, PIK3CD, CCND1, CBL, MYOM1, ITGA3, LRP2, PDGFRA, COL1A1, FLNC, COL1A2, AKT1, HRAS, EGFR, ITGA7, TNNT2, PTEN, MYH11, MUSK, HSPG2, LAMA3, STAT3, DDR2, SHH, COL2A1, NOTCH1, FLNB, DMD, PIK3R1

BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, CD8 DEFICIENCY, FAMILIAL, TUBEROUS SCLEROSIS 2, LEUKODYSTROPHY, HYPOMYELINATING, 4, IMMUNODEFICIENCY 43, ?IMMUNODEFICIENCY 22, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, RHEUMATOID ARTHRITIS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?IMMUNODEFICIENCY 39, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS

LCK, IL10, CD8A, CIITA, RFXANK, TAP1, TNF, IRF7, STAT1, RFX5, LEP, RFXAP, IFNG, TAPBP, B2M, CCND1, JAK2, HLA-DRB1, HLA-G, HSPD1, DNMT3B, TAP2

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LARSEN SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ATELOSTEOGENESIS, TYPE I, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR 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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LOEYS-DIETZ SYNDROME 4, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

STAT1, CREBBP, KRAS, TGFB2, CCND1, TNF, NFKB1, CDKN1B, SMAD4, EGFR, CDK5, IKBKB, STAT3, PIK3R1, PIK3CD, PLG, AKT1, TGFB1, FLNB, HRAS

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, IMMUNODEFICIENCY 15, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 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, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, 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, 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, PULMONARY VENOOCCLUSIVE DISEASE 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, HYPOPHOSPHATASIA, INFANTILE, SECKEL SYNDROME 9, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, FRASER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, 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, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, ?IMMUNODEFICIENCY 22, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, 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}, 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, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, TUBEROUS SCLEROSIS 2, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 4, RUBINSTEIN-TAYBI SYNDROME, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, PRIMARY PULMONARY HYPERTENSION, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, PITT-HOPKINS-LIKE SYNDROME 2, 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, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, KEUTEL SYNDROME, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, COMMON VARIABLE, 6, 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, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, DUCHENNE MUSCULAR DYSTROPHY, TIMOTHY SYNDROME, WISKOTT-ALDRICH SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ATAXIA-TELANGIECTASIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?MYOSCLEROSIS, CONGENITAL, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 5, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PULMONARY HYPERTENSION, PRIMARY, 3, IMMUNODEFICIENCY, COMMON VARIABLE, 2, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, ENCEPHALOPATHY, NEONATAL SEVERE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, EHLERS-DANLOS SYNDROME, TYPE IV, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, POLYCYSTIC LIVER DISEASE, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, ESCOBAR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, RENAL ADYSPLASIA, LARYNGOONYCHOCUTANEOUS SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, AGAMMAGLOBULINEMIA 6, PROTEUS SYNDROME, SOMATIC

CAV1, CDK5, TRAIP, PRSS1, ADRB2, CHRNG, CD8A, CIITA, COL3A1, RPL5, F2, AGT, IRF7, AGTR1, EDN1, ITGA8, BTK, IL4R, COL6A1, IL10, CCL11, EGR2, WT1, COL1A1, DNM2, NFKBIA, MS4A1, AGRN, TBK1, CD79B, COL2A1, IL2RG, CD81, SF3B4, ERBB4, ACTA1, CSF2RB, PRSS2, GRIP1, ACVR1, TNFRSF13C, ICOS, ELN, EGFR, SERPINA1, CREBBP, COL6A2, SQSTM1, NOTCH1, MYCN, DAG1, TNF, GATA2, EDNRA, ECM1, EDA, LEP, COL1A2, COPA, LIFR, CBL, CNTNAP1, CCND1, IFNG, NRXN1, TALDO1, MPZ, NDUFS2, HSPD1, OCLN, ACTA2, AICDA, LAMA3, WAS, DDR2, TYK2, ADCY6, COL11A2, BMPR2, TNFRSF13B, ALPL, IL7R, IL2RA, SOX9, SMAD4, COL5A1, F13A1, SMAD9, MECP2, HLA-DRB1, TGFB2, CASR, CNTN1, FOXF1, DMD, VHL, CHRNA1, BMP2, AKT1, TPI1, PRKDC, CFTR, ERBB3, LRP2, ATP1A3, IL21R, TBX21, IGKC, DCTN1, CASP8, HLA-G, KCNQ2, PTEN, IL1RN, MUSK, ACVRL1, CHRND, COL6A3, STAT3, RUNX2, EPOR, LCK, SSR4, FLNA, CHRNE, ZAP70, BIN1, B2M, IL17RA, PTGER2, PRKCSH, TGFB1, LAMA2, COL5A2, ATM, JAK3, STAT1, TP63, MT-CO2, CACNA1C, CD19, PLG, SERPINH1, IL13, FGFR2, PTPRC, ITGA3, CDKN1B, PDGFRA, BDNF, FBN1, RET, CHRNB1, PTH1R, CTLA4, SNAP25, HRAS, GJA1, ITGA7, DNMT3B, MGP, NHP2, MYH11, IKBKB, HSPG2, SELP, PIK3R1, JAK2, IL21, SHH

?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, 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, ?OSTEOGENESIS IMPERFECTA, TYPE X, PULMONARY VENOOCCLUSIVE DISEASE 1, VACTERL ASSOCIATION, X-LINKED, 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, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, 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, 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, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, IMMUNODEFICIENCY 35, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, LARSEN SYNDROME, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, PRIMARY PULMONARY HYPERTENSION, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, AURICULOCONDYLAR SYNDROME 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, SADDAN, ?TETRA-AMELIA SYNDROME, 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, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 5, {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, BEARE-STEVENSON CUTIS GYRATA SYNDROME, NON-IMMUNE HYDROPS FETALIS, OSTEOGLOPHONIC DYSPLASIA, TIMOTHY SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ATAXIA-TELANGIECTASIA, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?MYOSCLEROSIS, CONGENITAL, IMMUNODEFICIENCY 8, AURICULOCONDYLAR SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, 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, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, SED CONGENITA, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, OPITZ GBBB SYNDROME, TYPE I, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, EHLERS-DANLOS SYNDROME, TYPE IV, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, FIBROCHONDROGENESIS 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, POLYCYSTIC LIVER DISEASE, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, RENAL ADYSPLASIA, {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, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ULNAR-MAMMARY SYNDROME, LARYNGOONYCHOCUTANEOUS SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, DYSAUTONOMIA, FAMILIAL, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PALLISTER-HALL SYNDROME, TUMOR PREDISPOSITION SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, PROTEUS SYNDROME, SOMATIC

CAV1, EDNRA, KMT2A, CAV3, ADRB2, NAA10, LBR, SQSTM1, COL3A1, F2, TBX3, AGT, COL11A2, GNAI3, COL5A1, EDN1, GJA1, BTK, WT1, MYH7, COL6A1, ENG, EGR2, ITGA3, ERBB4, COL1A1, DNM2, NFKBIA, WNT4, CREBBP, ECM1, COL2A1, CD81, SF3B4, MUSK, ACTA1, ACE, TGFB2, FGFR3, KRAS, ERBB3, SERPINA1, ADCY6, COL6A2, NOTCH1, MYCN, DAG1, TNF, GATA2, FGFR1, MID1, EDA, COL1A2, PIK3CD, JAK2, AIFM1, CBL, IKBKAP, CCND1, MYOM1, SALL4, ZIC3, CRYAB, NCF2, GDNF, BAP1, ACTA2, TNNT2, TALDO1, STAT3, DDR2, TYK2, SNAP25, BMPR2, NCF1, RET, ALPL, ITGA8, SOX9, BLNK, SMAD4, CDK5, F13A1, SMAD9, LRP5, CASR, LAMA3, DMD, VHL, ACVR1, RAPSN, BMP2, AKT1, BIN1, INPPL1, PRKDC, CFTR, LRP2, FBN1, IKBKB, GLI3, PTEN, TRPV4, TUBB4A, COL6A3, RUNX2, NRAS, FLNA, FZD6, LAMA2, TGFB1, WNT3, COL5A2, ATM, JAK3, CARD11, FGF10, NFKB1, WAS, CACNA1C, TCF4, PLG, SERPINH1, FGFR2, PIK3R1, LIFR, PIP5K1C, PDGFRA, FLNC, KAT6A, HRAS, EGFR, ITGA7, OCLN, MYH11, HSPG2, NEB, PLCB4, FLNB, PORCN, CORO1A, 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, 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, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, THANATOPHORIC DYSPLASIA, TYPE I, AMYOTROPHIC LATERAL SCLEROSIS 19, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, CROUZON SYNDROME, 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, APERT SYNDROME, APLASIA OF LACRIMAL AND SALIVARY GLANDS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?RENAL HYPODYSPLASIA/APLASIA 2, SADDAN, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

SOX9, KRAS, NRAS, TGFB1, NOTCH1, FGF10, FGFR1, LEP, FGF20, PIK3CD, AKT1, FGFR2, CCND1, PDGFRA, HRAS, EGFR, ERBB4, FGFR3, TNF, STAT3, PIK3R1, PTEN, SHH

AGAMMAGLOBULINEMIA 6, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, 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}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, 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, SELECTIVE T-CELL DEFECT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, ?IMMUNODEFICIENCY 39, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, RHEUMATOID ARTHRITIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TUBEROUS SCLEROSIS 2, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, RUBINSTEIN-TAYBI SYNDROME, ?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, CSF2RB, IL7R, GJA1, IL2RA, CBL, SMAD4, IRF5, SQSTM1, TGFB1, NOTCH1, STAT1, IRF7, AGT, BCL10, IL21, STAT3, LEP, PIK3CD, AKT1, BMP2, LIFR, IL13, IL4R, CCND1, IL10, SELP, JAK2, IL21R, JAK3, HRAS, EGFR, IFNG, EPOR, ZAP70, CREBBP, TNF, CD79B, BTK, TYK2, IL2RG, RUNX2, GATA2, PIK3R1

?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, BETHLEM MYOPATHY 1, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, {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, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, SELECTIVE T-CELL DEFECT, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 6, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, RENAL ADYSPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MYOTUBULAR MYOPATHY, X-LINKED, PRIMARY PULMONARY HYPERTENSION, AMYOTROPHIC LATERAL SCLEROSIS 19, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 5, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], PITT-HOPKINS-LIKE SYNDROME 2, TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 3, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ENCEPHALOPATHY, NEONATAL SEVERE, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, TRANSALDOLASE DEFICIENCY, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

LCK, MPZ, CAV1, ITGA8, ICOS, SMAD4, CD8A, CIITA, MECP2, STAT1, NRXN1, CNTN1, TGFB1, HLA-DRB1, CTLA4, NOTCH1, COL6A1, AKT1, EGR2, B2M, CNTNAP1, CCND1, IL10, SELP, IFNG, ERBB4, TALDO1, DNM2, HLA-G, HSPD1, HRAS, MS4A1, EGFR, ACTA2, PTEN, ZAP70, HSPG2, TNF, BMPR2, PTPRC, CD81, OCLN, PIK3R1

ATAXIA-TELANGIECTASIA, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), NIEMANN-PICK DISEASE, TYPE A, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, GAUCHER DISEASE, PERINATAL LETHAL, GLYCOGEN STORAGE DISEASE II, NON-IMMUNE HYDROPS FETALIS, NIEMANN-PICK DISEASE, TYPE C2, FEINGOLD SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MUCOLIPIDOSIS II ALPHA/BETA, MUCOPOLYSACCHARIDOSIS, MPS-III-A, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, WRINKLY SKIN SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MUCOPOLYSACCHARIDOSIS II, MUCOPOLYSACCHARIDOSIS IS, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, RHEUMATOID ARTHRITIS, ASPARTYLGLUCOSAMINURIA, MUCOPOLYSACCHARIDOSIS IH/S, NIEMANN-PICK DISEASE, TYPE B, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), FARBER LIPOGRANULOMATOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, TUBEROUS SCLEROSIS 2, COMBINED SAP DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, FUCOSIDOSIS, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, GAUCHER DISEASE, TYPE II, CEROID LIPOFUSCINOSIS, NEURONAL, 10, KRABBE DISEASE, ATYPICAL, MUCOPOLYSACCHARIDOSIS IVA, GAUCHER DISEASE, TYPE I, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), PROTEUS SYNDROME, SOMATIC

FUCA1, NEU1, GLB1, HEXA, SMPD1, MYCN, GNS, ATM, ACP5, AP3B1, CIITA, CTSD, ASAH1, ACVR1, VMA21, AKT1, BMP2, PSAP, IDUA, MRPL3, GAA, NAGLU, GBA, IFNG, GLA, LIPA, ATP5A1, IDS, GNPTAB, AGA, TUFM, GALNS, SGSH, EGFR, GUSB, SELP, NPC2, HGSNAT, ATP6V0A2, ARSB

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, IMMUNODEFICIENCY 15, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 8, PERRY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, LEUKODYSTROPHY, HYPOMYELINATING, 4, SELECTIVE T-CELL DEFECT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, WRINKLY SKIN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, C1R/C1S DEFICIENCY, COMBINED, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, IMMUNODEFICIENCY 20, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, 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}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, IMMUNODEFICIENCY 43, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, CEROID LIPOFUSCINOSIS, NEURONAL, 10, OSTEOGENESIS IMPERFECTA, TYPE III, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PROTEUS SYNDROME, SOMATIC

NCF1, ATP6V0A2, SFTPA2, CYBB, CBL, SFTPA1, TGFB1, C1R, FCGR2B, TAP1, CYBA, TNF, IL21, STAT1, FCGR2A, BMP2, HRAS, AKT1, BTK, B2M, TUBB4A, CFTR, IL10, IFNG, RPL5, FCGR3A, IKBKB, DCTN1, COL1A1, NCF2, HLA-G, HSPD1, HLA-DRB1, NCF4, TMEM173, EGFR, SCGB3A2, PEX5, ZAP70, SOX9, SELP, TP63, TAP2, DYNC2H1, CTSD, CORO1A

PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, NON-IMMUNE HYDROPS FETALIS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), OSTEOGLOPHONIC DYSPLASIA, ASPARTYLGLUCOSAMINURIA, MUCOPOLYSACCHARIDOSIS II, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NESTOR-GUILLERMO PROGERIA SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, MUCOPOLYSACCHARIDOSIS, MPS-III-A, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, IMMUNODEFICIENCY, COMMON VARIABLE, 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS IS, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), DESBUQUOIS DYSPLASIA 2, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH/S, FUCOSIDOSIS, PULMONARY HYPERTENSION, PRIMARY, 3, GAUCHER DISEASE, PERINATAL LETHAL, OSTEOGENESIS IMPERFECTA, TYPE II, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, OSTEOGENESIS IMPERFECTA, TYPE III, MUCOPOLYSACCHARIDOSIS IVA, GAUCHER DISEASE, TYPE I, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, PROTEUS SYNDROME, SOMATIC

FUCA1, SGSH, CAV1, KRAS, COL1A1, SDHD, DPM1, GPC3, BANF1, B3GAT3, IDS, PIGT, NOTCH1, RPL5, TGFB2, GUSB, TNF, GNS, TGFB1, FGFR1, MOGS, HEXA, STT3B, GALNS, MUC7, IDUA, PIGC, NAGLU, GLB1, GBA, GLA, ARSB, DPAGT1, AGA, AKT1, HRAS, DPM2, POMT2, PIGN, XYLT1, HSPG2, NEU1, HGSNAT, CHST14, CD81, GALNT14

?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, IMMUNODEFICIENCY, COMMON VARIABLE, 4, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, EHLERS-DANLOS SYNDROME, TYPE IV, ATELOSTEOGENESIS, TYPE I, SELECTIVE T-CELL DEFECT, 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, 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, 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, TRANSALDOLASE DEFICIENCY, 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, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, SICKLE CELL ANEMIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FAMILIAL MEDITERRANEAN FEVER, AR, 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, 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, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 35, SMITH-LEMLI-OPITZ SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, {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, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, 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, GREENBERG SKELETAL DYSPLASIA, 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, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, SINGLETON-MERTEN SYNDROME 1, {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, AURICULOCONDYLAR SYNDROME 1, BEARE-STEVENSON CUTIS GYRATA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, AURICULOCONDYLAR SYNDROME 2, RHEUMATOID ARTHRITIS, PITT-HOPKINS-LIKE SYNDROME 2, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 1, KAPPA LIGHT CHAIN DEFICIENCY, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, {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, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, TENORIO SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 6, 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, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DUCHENNE MUSCULAR DYSTROPHY, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ATAXIA-TELANGIECTASIA, 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, IMMUNODEFICIENCY 8, SED CONGENITA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, IMMUNODEFICIENCY, COMMON VARIABLE, 5, PULMONARY VENOOCCLUSIVE DISEASE 1, TUBEROUS SCLEROSIS 2, CEREBELLOFACIODENTAL SYNDROME, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, IMMUNODEFICIENCY, COMMON VARIABLE, 2, OPITZ GBBB SYNDROME, TYPE I, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, ?IMMUNODEFICIENCY 13, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, FIBROCHONDROGENESIS 2, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, PLEUROPULMONARY BLASTOMA, FAMILIAL MEDITERRANEAN FEVER, AD, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, COMPLEMENT FACTOR I DEFICIENCY, ULNAR-MAMMARY SYNDROME, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, DYSAUTONOMIA, FAMILIAL, C1R/C1S DEFICIENCY, COMBINED, AGAMMAGLOBULINEMIA 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, IMMUNODEFICIENCY 36, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CODAS SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, 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, IMMUNODEFICIENCY 9, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, AGAMMAGLOBULINEMIA 6, PROTEUS SYNDROME, SOMATIC

CAV1, HBB, CD3D, CAV3, ADRB2, MID1, IFIH1, LBR, CD8A, CIITA, COL3A1, RPL5, NRXN1, F2, TBX3, AGT, TP63, COL11A2, GNAI3, CD19, COL5A1, TREX1, EDN1, DDR2, BTK, IL4R, CFL2, IL10, CCL11, EGR2, IGHM, ITGA3, ERBB4, FBP1, COL1A1, DNM2, DES, NCF4, MS4A1, MEFV, SERPING1, TBK1, CD79B, LONP1, COL2A1, CD81, MUSK, ACTA1, ACE, TGFB2, MYOM1, IL1RN, KRAS, NFKB2, ERBB3, PROC, CASP8, PTPRC, SERPINA1, ADCY6, IRF5, ORAI1, AGTR1, CD79A, SQSTM1, NFKBIA, MYCN, DAG1, TNF, IL21, EDNRA, CD3E, LEP, MS4A2, PIK3CD, RFXAP, JAK2, AIFM1, CBL, SMARCE1, IKBKAP, CCND1, IFNG, TAP1, NRAS, TALDO1, NCF2, HSPD1, TMEM173, OCLN, ACTA2, TNNT2, NLRP1, AICDA, CREBBP, WAS, TYK2, IGKC, BMPR2, FCGR2A, NCF1, STIM1, SHH, GJA1, IL2RA, CSF2RB, BLNK, SMAD4, CDK5, F13A1, CEP290, C1R, HLA-DRB1, LRP5, CASR, ICOS, IRF7, DMD, SOX9, BMP2, TNFRSF13B, AKT1, CYBA, CYBB, TPI1, PRKDC, NDUFS1, CFTR, CFI, TNFRSF13C, EGFR, EPOR, TBX21, DCTN1, HLA-G, ITCH, DNMT3B, PTEN, ECHS1, PROS1, TAPBP, NFKBIL1, STAT3, RUNX2, SH2D1A, LCK, SERPINC1, CD244, FLNA, ZAP70, BIN1, B2M, IL7R, INPPL1, NOTCH1, DHCR7, TGFB1, COL5A2, ATM, FCGR2B, JAK3, CARD11, BRF1, TAF6, BCL10, DICER1, STAT1, NFKB1, NEB, MT-CO2, RFX5, RFXANK, PLG, RANBP2, IL13, FGFR2, PLCG2, TINF2, CD3G, SALL4, CDKN1B, PIP5K1C, FCGR3A, UNC119, F12, CTLA4, HFE, HRAS, COL1A2, LRP2, RNF125, NHP2, MYH11, IKBKB, SELP, CR2, PLCB4, TAP2, FLNB, CORO1A, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 15, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, AGAMMAGLOBULINEMIA 4, HYPER-IGE RECURRENT INFECTION SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, OTOPALATODIGITAL SYNDROME, TYPE II, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 14, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 43, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MELNICK-NEEDLES SYNDROME, RUBINSTEIN-TAYBI SYNDROME, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, PRIMARY PULMONARY HYPERTENSION, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, AMYOTROPHIC LATERAL SCLEROSIS 19, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, MYOPATHY, MYOFIBRILLAR, 2, 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, IMMUNODEFICIENCY 20, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, FRONTOMETAPHYSEAL DYSPLASIA, TUBEROUS SCLEROSIS 2, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, PROTEUS SYNDROME, SOMATIC

LCK, NCF1, TGFB2, CYBB, IL4R, BLNK, ADRB2, CD3E, SQSTM1, TGFB1, FLNA, ACP5, CYBA, AGT, NFKB2, STAT1, NFKB1, FCGR2A, CDK5, LEP, PIK3CD, AKT1, JAK2, BTK, B2M, PLCG2, IL10, WAS, NFKBIA, HLA-DRB1, CRYAB, IKBKB, FCGR3A, NCF2, F2, NCF4, FCGR2B, IFNG, ERBB4, F13A1, CREBBP, TBK1, TNF, STAT3, CASP8, BMPR2, TYK2, PIK3R1

NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, MUSCULAR DYSTROPHY, CONGENITAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, OSTEOGENESIS IMPERFECTA, TYPE II, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, MYOPATHY, MYOFIBRILLAR, 2, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, PEUTZ-JEGHERS SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MELNICK-NEEDLES SYNDROME, PROTEUS SYNDROME, SOMATIC, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, RESTRICTIVE DERMOPATHY, LETHAL, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, MYOPATHY, MYOFIBRILLAR, 1, RENAL ADYSPLASIA, TIMOTHY SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, MYOPATHY, MYOFIBRILLAR, 5, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT

ACE, TGFB2, MYH11, ITGA8, CAV3, LAMA2, TGFB1, COL1A2, TPM2, FLNA, DAG1, TNF, TPM3, CACNA1C, EGR2, AKT1, BIN1, MYH7, STK11, LMNA, SGCG, ITGA3, CRYAB, FLNC, DES, TTN, ITGA7, TNNT2, F13A1, PRKAG2, DST, COL2A1, DMD

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, HYPER-IGE RECURRENT INFECTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, AGAMMAGLOBULINEMIA 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 15, 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, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, SELECTIVE T-CELL DEFECT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ?IMMUNODEFICIENCY 37, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, ?IMMUNODEFICIENCY 39, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY, COMMON VARIABLE, 7, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, RHEUMATOID ARTHRITIS, KAPPA LIGHT CHAIN DEFICIENCY, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

LCK, AIFM1, GJA1, TNFRSF13C, BLNK, SMAD4, BCL10, NOTCH1, ATM, STAT1, IRF7, CCND1, TNF, NFKB2, NFKB1, STAT3, AKT1, NFKBIA, BTK, PRKDC, IL10, PLCG2, CARD11, IFNG, IKBKB, HSPD1, EGFR, ZAP70, CR2, PTPRC, IGKC, PIK3R1

ATAXIA-TELANGIECTASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, IMMUNODEFICIENCY 15, FEINGOLD SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {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, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 14, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, AURICULOCONDYLAR SYNDROME 1, 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}, JOUBERT SYNDROME 5, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AURICULOCONDYLAR SYNDROME 2, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, WISKOTT-ALDRICH SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, 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], NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, PULMONARY HYPERTENSION, PRIMARY, 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, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, RENAL TUBULAR DYSGENESIS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

ACTA1, NCF1, CAV1, EDNRA, KRAS, ERBB3, CAV3, ADRB2, ADCY6, MYCN, TGFB1, CEP290, ATM, STAT1, F2, CASR, AGT, NFKB1, GNAI3, WAS, NCF4, PIK3CD, AKT1, JAK2, IL4R, PLG, CCND1, CBL, CCL11, CDKN1B, IL10, JAK3, IKBKB, NFKBIA, EDN1, HRAS, EGFR, IFNG, OCLN, TBX21, NRAS, TNF, STAT3, CFTR, PLCB4, PTEN, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 15, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, KEUTEL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OSTEOGENESIS IMPERFECTA, TYPE II, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, FEINGOLD SYNDROME, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, IMMUNODEFICIENCY, COMMON VARIABLE, 4, SELECTIVE T-CELL DEFECT, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 35, 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, ?IMMUNODEFICIENCY 39, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PULMONARY VENOOCCLUSIVE DISEASE 1, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PRIMARY PULMONARY HYPERTENSION, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, AMYOTROPHIC LATERAL SCLEROSIS 19, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?CANDIDIASIS, FAMILIAL, 5, 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, HYPERPARATHYROIDISM, NEONATAL, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, KAPPA LIGHT CHAIN DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, 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], EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, AURICULOCONDYLAR SYNDROME 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, PULMONARY HYPERTENSION, PRIMARY, 3, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, IMMUNODEFICIENCY, COMMON VARIABLE, 2, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, RUBINSTEIN-TAYBI SYNDROME, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, PROTEUS SYNDROME, SOMATIC

SELP, CSF2RB, TGFB2, SHH, ZAP70, IL7R, GJA1, TNFRSF13C, SOX9, CASP8, SMAD4, PTEN, IL4R, MYCN, SQSTM1, TGFB1, COL1A1, RPL5, IRF7, LIFR, CAV1, CASR, AGT, IGKC, EDNRA, STAT3, EDA, LEP, SERPINA1, IL2RA, RUNX2, AKT1, BMP2, EGR2, TPI1, BMPR2, CBL, IL10, CCL11, CDKN1B, IL21R, STAT1, PDGFRA, EPOR, TBX21, MGP, IL17RA, GATA2, NFKBIA, F2, FOXF1, EDN1, HRAS, OCLN, EGFR, DNMT3B, IFNG, IL2RG, ERBB4, F13A1, BDNF, CREBBP, JAK3, HSPG2, TNF, ACVR1, IL13, TYK2, JAK2, TNFRSF13B, IKBKB, IL21, PIK3R1

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, 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, ANGIOEDEMA, HEREDITARY, TYPE III, COMPLEMENT FACTOR I DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 7, C1R/C1S DEFICIENCY, COMBINED, HYPERPARATHYROIDISM, NEONATAL, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, KAPPA LIGHT CHAIN DEFICIENCY, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, ?IMMUNODEFICIENCY 22, RENAL TUBULAR DYSGENESIS

LCK, SERPINC1, F2, PROS1, SERPINA1, C1R, CASR, TNF, IGKC, AGTR1, LEP, PLG, PROC, CFI, IFNG, F12, CD81, EGFR, PTEN, F13A1, CR2, RUNX2, SERPING1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 14, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMMUNODEFICIENCY 15, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, PEUTZ-JEGHERS SYNDROME, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, RUBINSTEIN-TAYBI SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, 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, MYOPATHY, MYOFIBRILLAR, 2, PSEUDOHYPOALDOSTERONISM, TYPE I, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OMENN SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CORNELIA DE LANGE SYNDROME 1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ATAXIA-TELANGIECTASIA, MYOPATHY, MYOFIBRILLAR, 5, TUBEROUS SCLEROSIS-1, HYPERPARATHYROIDISM, NEONATAL, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

NRAS, TGFB2, IL7R, IL10, SCNN1G, SMAD4, CDK5, RAG1, FOXG1, TGFB1, NOTCH1, ATM, F2, CASR, AGT, PCK1, FGFR1, STAT3, SCNN1A, PIK3CD, AKT1, KRAS, G6PC3, KMT2A, STK11, PRKAG2, CCND1, CDKN1B, EGFR, CRYAB, IKBKB, CASP8, FLNC, NFKBIA, HRAS, ITCH, PTEN, CREBBP, TNF, TSC1, CFTR, RAG2, PIK3R1

NON-IMMUNE HYDROPS FETALIS, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, TIMOTHY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, MUSCULAR DYSTROPHY, CONGENITAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DUCHENNE MUSCULAR DYSTROPHY, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, MELNICK-NEEDLES SYNDROME, RESTRICTIVE DERMOPATHY, LETHAL, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MYOPATHY, MYOFIBRILLAR, 1, RENAL ADYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, OSTEOGENESIS IMPERFECTA, TYPE II, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, PROTEUS SYNDROME, SOMATIC

ACE, TGFB2, MYH11, ITGA8, CAV3, ADRB2, LAMA2, TGFB1, COL1A2, TPM2, FLNA, DAG1, TNF, TPM3, CACNA1C, EGR2, AKT1, BIN1, MYH7, LMNA, SGCG, ITGA3, DES, TTN, ITGA7, TNNT2, F13A1, ADCY6, NEB, COL2A1, DMD

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 15, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, [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, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, HYPERPARATHYROIDISM, NEONATAL, KAPPA LIGHT CHAIN DEFICIENCY, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, PULMONARY HYPERTENSION, PRIMARY, 3, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RENAL TUBULAR DYSGENESIS, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, PROTEUS SYNDROME, SOMATIC

STAT1, CAV1, CASR, CCND1, TNF, GJA1, NFKB2, NFKB1, LEP, CASP8, IKBKB, AGT, SMAD4, IGKC, IL10, NFKBIA, AKT1, JAK2, HSPD1, NLRP1, HRAS

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMMUNODEFICIENCY 15, LEUKODYSTROPHY, HYPOMYELINATING, 4, OSTEOGLOPHONIC DYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, ATAXIA-TELANGIECTASIA, IMMUNODEFICIENCY 43, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 14, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, AURICULOCONDYLAR SYNDROME 1, IMMUNODEFICIENCY 19, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, AURICULOCONDYLAR SYNDROME 2, C1R/C1S DEFICIENCY, COMBINED, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, DYSTONIA 25, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, IMMUNODEFICIENCY 36, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35, PROTEUS SYNDROME, SOMATIC

LCK, ACE, TGFB2, GNAI3, GJA1, B2M, CASP8, CD3D, AGTR1, TGFB1, ATM, STAT1, CD3G, TNF, NFKB1, CD3E, PIK3CD, EDN1, IFNG, BTK, C1R, CBL, FGFR1, PLG, CFTR, IL10, NFKBIA, GNAL, IKBKB, HSPD1, AKT1, TBK1, STAT3, PIK3R1, TYK2, JAK2, PLCB4

{SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ?IMMUNODEFICIENCY 22, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?IMMUNODEFICIENCY 39, 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, IMMUNODEFICIENCY 20, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, RHEUMATOID ARTHRITIS, KAPPA LIGHT CHAIN DEFICIENCY, TUBEROUS SCLEROSIS 2, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, LOEYS-DIETZ SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

LCK, NCF1, TGFB2, CYBB, IL4R, CIITA, STAT1, CYBA, TNF, TGFB1, IGKC, NFKB1, STAT3, AKT1, NFKBIA, FCGR2B, IL10, WAS, IFNG, HLA-DRB1, FCGR3A, NCF2, NCF4, GJA1, F13A1, FCGR2A, JAK2, CD81, IRF7

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ATAXIA-TELANGIECTASIA, SED CONGENITA, FIBROCHONDROGENESIS 2, HYPER-IGE RECURRENT INFECTION SYNDROME, LARYNGOONYCHOCUTANEOUS 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, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, IMMUNODEFICIENCY 14, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, IMMUNODEFICIENCY 43, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, AURICULOCONDYLAR SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, KNIEST DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, MYOPATHY, MYOFIBRILLAR, 2, AURICULOCONDYLAR SYNDROME 2, RHEUMATOID ARTHRITIS, DYSTONIA 25, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, EHLERS-DANLOS SYNDROME, TYPE IV, OSTEOGENESIS IMPERFECTA, TYPE III, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

ACTA1, SOX9, TGFB2, SHH, NFKB1, REN, IL10, CASP8, LAMA2, TGFB1, SQSTM1, COL3A1, PIK3CD, ATM, HLA-DRB1, DAG1, LAMA3, COL11A2, VHL, LEP, COL5A1, COL1A1, BMP2, COL5A2, PLG, EDN1, CDKN1B, PRKDC, B2M, TYK2, CFTR, JAK2, EGFR, CRYAB, LRP2, ADRB2, COL1A2, AKT1, HRAS, GNAL, GJA1, IFNG, SELP, F13A1, HSPG2, TNF, STAT3, DDR2, PLCB4, COL2A1, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, LEUKODYSTROPHY, HYPOMYELINATING, 4, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DUCHENNE MUSCULAR DYSTROPHY, IMMUNODEFICIENCY 43, DIAMOND-BLACKFAN ANEMIA 6, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RHEUMATOID ARTHRITIS, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS 2, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 5, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, IMMUNODEFICIENCY 36

SGCG, IL10, RPL5, B2M, CCND1, DAG1, IFNG, DMD, HLA-G, HLA-DRB1, CASP8, TNF, CAV1, MYH7, SOX9, FLNC, LAMA2, HSPD1, PTEN, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NIEMANN-PICK DISEASE, TYPE A, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE III, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?IMMUNODEFICIENCY 22, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [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}, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, SED CONGENITA, KNIEST DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NIEMANN-PICK DISEASE, TYPE B, KAPPA LIGHT CHAIN DEFICIENCY, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

LCK, TGFB2, HBB, SMPD1, IL10, CASP8, TGFB1, COL1A2, TNF, IGKC, LEP, BMP2, PLG, AKT1, GJA1, TAPBP, B2M, JAK2, IFNG, PTEN, AGT, STAT3, COL2A1, CD81, SELP

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 15, LEUKODYSTROPHY, HYPOMYELINATING, 4, HYPER-IGE RECURRENT INFECTION SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, PERRY SYNDROME, SELECTIVE T-CELL DEFECT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 14, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, AURICULOCONDYLAR SYNDROME 1, LARYNGOONYCHOCUTANEOUS SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MYOPATHY, MYOFIBRILLAR, 2, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, TUBEROUS SCLEROSIS 2, IMMUNODEFICIENCY 36, 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, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, LOEYS-DIETZ SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

TGFB2, NFKB1, KRAS, CASP8, LAMA2, CIITA, ZAP70, STAT1, LAMA3, TGFB1, GJA1, GNAI3, LEP, CDK5, ALOX5, PLG, AKT1, NFKBIA, PRKDC, IL10, PIK3CD, CCND1, JAK2, HLA-DRB1, CRYAB, IKBKB, DCTN1, HSPD1, IFNG, NLRP1, F13A1, CREBBP, HSPG2, TNF, STAT3, SHH, TYK2, IRF7, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMMUNODEFICIENCY 15, LEUKODYSTROPHY, HYPOMYELINATING, 4, OSTEOGLOPHONIC DYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BLOOM SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SELECTIVE T-CELL DEFECT, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, PERRY SYNDROME, SINGLETON-MERTEN SYNDROME 1, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, 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, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, KAPPA LIGHT CHAIN DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TUBEROUS SCLEROSIS 2, AGAMMAGLOBULINEMIA, X-LINKED 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMMUNODEFICIENCY 43, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY, COMMON VARIABLE, 12, MYOPATHY, MYOFIBRILLAR, 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PULMONARY VENOOCCLUSIVE DISEASE 2, IMMUNODEFICIENCY 36, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

ACTA1, PRSS2, F2, FGFR1, GJA1, CBL, CASP8, CREBBP, IFIH1, SQSTM1, CIITA, HLA-DRB1, IRF7, TNF, TGFB1, IGKC, NFKB1, CDK5, CDKN1B, PIK3CD, AKT1, EIF2AK4, JAK2, BTK, B2M, PLG, CCND1, IL10, TINF2, NFKBIA, STAT1, IKBKB, DCTN1, FLNC, HSPD1, HRAS, EGFR, IFNG, PRSS1, ZAP70, FBP1, TBK1, STAT3, BLM, TYK2, BCL10, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, IMMUNODEFICIENCY 15, LEUKODYSTROPHY, HYPOMYELINATING, 4, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, ATAXIA-TELANGIECTASIA, FEINGOLD SYNDROME, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, 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}, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, 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, HYPERPARATHYROIDISM, NEONATAL, KAPPA LIGHT CHAIN DEFICIENCY, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MEIER-GORLIN SYNDROME 2, TUBEROUS SCLEROSIS 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SINGLETON-MERTEN SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35, PROTEUS SYNDROME, SOMATIC

ACTA1, ORC4, RPL5, CAV1, NFKB1, KMT2A, GJA1, IL10, CASP8, CREBBP, IFIH1, MYCN, SQSTM1, TGFB1, ATM, CR2, TAP1, CASR, LEP, TNF, BCL10, IGKC, HLA-DRB1, VHL, STAT3, CDK5, TAF6, AKT1, EIF2AK4, NFKBIA, B2M, TYK2, CCND1, JAK2, STAT1, IKBKB, DCTN1, DNM2, HLA-G, HSPD1, EGFR, KRAS, IFNG, ZAP70, TBK1, TP63, TAP2, IRF7

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, DYSAUTONOMIA, FAMILIAL, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 4, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, 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}, FRONTOMETAPHYSEAL DYSPLASIA, FILS SYNDROME, IMMUNODEFICIENCY 19, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, ?TETRA-AMELIA SYNDROME, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, ATAXIA-TELANGIECTASIA, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, SED CONGENITA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, 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, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, 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}, APERT SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, LOEYS-DIETZ SYNDROME 4, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, PROTEUS SYNDROME, SOMATIC

CAV1, CD3D, COL1A1, CIITA, HLA-G, COL1A2, RPL5, FTL, IRF7, TAF6, B2M, EGR2, WNT4, CREBBP, IKBKAP, IL2RG, MUSK, ACTA1, CSF2RB, TGFB2, KRAS, TNFRSF13C, IL10, SERPINA1, ADCY6, NOTCH1, TNF, GATA2, FGFR1, CD3E, EDA, LEP, PIK3CD, NFKBIA, CBL, COL2A1, CCND1, IFNG, STAT1, NKX2-1, GDNF, HSPD1, ACTA2, ACVR1, PTPRC, IGKC, PAX8, CAV3, IL2RA, SMAD4, MECP2, HLA-DRB1, CASR, NFKB2, BMP2, AKT1, CFTR, IKBKB, GLI3, TERT, PTEN, STAT3, RUNX2, LCK, NRAS, FLNA, FZD6, WNT3, TGFB1, PRKCSH, ATM, JAK3, FGF10, NFKB1, TP63, MT-CO2, PLG, POLE, FGFR2, CD3G, PDGFRA, HRAS, EGFR, ZAP70, HSPG2, PIK3R1, JAK2, PORCN, SHH

IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, 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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRASER SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, SADDAN, IMMUNODEFICIENCY 35, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION 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, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, DIAPHANOSPONDYLODYSOSTOSIS, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, PRIMARY PULMONARY HYPERTENSION, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, IMMUNODEFICIENCY 36, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 8, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, WISKOTT-ALDRICH SYNDROME, GENITOPATELLAR SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PULMONARY VENOOCCLUSIVE DISEASE 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, PLEUROPULMONARY BLASTOMA, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, MYOPATHY, MYOFIBRILLAR, 2, CROUZON SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, TUMOR PREDISPOSITION SYNDROME, APERT SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PROTEUS SYNDROME, SOMATIC

ACTA1, FCGR2A, NCF1, TGFB2, CORO1A, NFKB1, KRAS, CBL, BLNK, IL4R, TBK1, IRF5, AGT, BMPR2, SQSTM1, UBA1, TGFB1, FLNA, NOTCH1, COL1A1, ACP5, FGFR2, CYBA, LEP, CNTN1, CIITA, NFKB2, HLA-DRB1, GNAI3, WAS, CDK5, GRIP1, BMP2, NCF4, PIK3CD, ADRB2, AKT1, LCK, CNTNAP1, JAK2, EIF4A3, CD3E, AIFM1, CYBB, B2M, FGFR1, PLCG2, CFL2, CCND1, IL10, NFKBIA, STAT1, CRYAB, NRAS, IKBKB, KAT6B, FCGR3A, NCF2, FGFR3, F2, EDN1, HRAS, FCGR2B, EGFR, BTK, BMPER, DNMT3B, ACTA2, IFNG, PTEN, F13A1, CREBBP, SOX9, TNF, STAT3, ASCC1, CASP8, SHH, TYK2, BAP1, ERBB4, PIK3R1, DICER1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 15, LEUKODYSTROPHY, HYPOMYELINATING, 4, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 14, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SINGLETON-MERTEN SYNDROME 1, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, ?IMMUNODEFICIENCY 39, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MYOPATHY, MYOFIBRILLAR, 2, 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, TUBEROUS SCLEROSIS 2, APLASIA OF LACRIMAL AND SALIVARY GLANDS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, LOEYS-DIETZ SYNDROME 4, MEIER-GORLIN SYNDROME 4, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

NRAS, IRF5, TGFB2, KRAS, CASP8, SMAD4, TBK1, IFIH1, TGFB1, STAT1, FGF10, IRF7, NFKB1, CDK5, PIK3CD, AKT1, EGR2, IL10, CCND1, CDKN1B, CRYAB, IKBKB, NFKBIA, CDT1, HSPD1, HRAS, EGFR, IFNG, PTEN, CREBBP, HAMP, HSPG2, TNF, STAT3, JAK2, NLRP1, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, 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, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 43, SINGLETON-MERTEN SYNDROME 1, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, IMMUNODEFICIENCY 19, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, RHEUMATOID ARTHRITIS, 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}, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PULMONARY VENOOCCLUSIVE DISEASE 2, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, PROTEUS SYNDROME, SOMATIC

LCK, IRF5, GJA1, CDK5, IL2RA, B2M, CASP8, CD3D, IL4R, TBK1, IFIH1, TGFB1, JAK3, CFTR, TNF, BCL10, IRF7, NFKB1, CD3E, CDKN1B, PIK3CD, AKT1, EIF2AK4, JAK2, IL13, CBL, PTPRC, CCND1, IL10, NFKBIA, STAT1, MFN2, CD3G, HSPD1, HRAS, FCGR2B, EGFR, IFNG, SH2D1A, CREBBP, STAT3, BTK, TYK2, IL2RG, PIK3R1

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?IMMUNODEFICIENCY 39, MYHRE SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, MEIER-GORLIN SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, AGAMMAGLOBULINEMIA, X-LINKED 1, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, 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}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, WRINKLY SKIN SYNDROME, 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, CD8 DEFICIENCY, FAMILIAL, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, 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, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ATAXIA-TELANGIECTASIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, AGAMMAGLOBULINEMIA 2, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, CEREBROCOSTOMANDIBULAR SYNDROME, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, 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, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, IMMUNODEFICIENCY, COMMON VARIABLE, 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ANGIOEDEMA, HEREDITARY, TYPES I AND II, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, IMMUNODEFICIENCY, COMMON VARIABLE, 3, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, C1R/C1S DEFICIENCY, COMBINED, AGAMMAGLOBULINEMIA 3, OMENN SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, PROTEUS SYNDROME, SOMATIC

CD3D, RAG1, CD8A, CIITA, MS4A2, RPL5, IRF7, CD19, GJA1, BTK, IL4R, IL10, IL2RA, IGHM, IL21R, IGLL1, UNG, SERPING1, TBK1, IL2RG, ATP6V0A2, PTEN, ACTA1, ACE, TGFB2, TNFRSF13C, CBL, CREBBP, CD79A, NOTCH1, DCLRE1C, TNF, IL21, HLA-DRB1, CD3E, LEP, PIK3CD, RFXAP, NFKBIA, ICOS, ORAI1, CCND1, IFNG, TAP1, NKX2-1, HSPD1, CD81, ACTA2, AICDA, RAG2, TP63, TYK2, IGKC, FCGR2A, TNFRSF13B, IL7R, CCL11, BLNK, SMAD4, C1R, STAT1, SNRPB, BMP2, AKT1, PRKDC, CFTR, ATP5A1, TBX21, HLA-G, PEX5, F13A1, ACVRL1, ACP5, NFKBIL1, RUNX2, LCK, B2M, IL17RA, TGFB1, RFXANK, ATM, JAK3, NFKB1, STAT3, ORC1, RFX5, PLG, IL13, PTPRC, CDKN1B, FCGR3A, CTLA4, HRAS, EGFR, DNMT3B, ADA, SELP, ZAP70, IKBKB, CR2, TAP2, JAK2, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, IMMUNODEFICIENCY 14, ATAXIA-TELANGIECTASIA, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, FRASER 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, NESTOR-GUILLERMO PROGERIA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LARSEN SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, NON-IMMUNE HYDROPS FETALIS, FRONTOMETAPHYSEAL DYSPLASIA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, FEINGOLD SYNDROME, ATELOSTEOGENESIS, TYPE I, IMMUNODEFICIENCY 43, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, {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, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), CILIARY DYSKINESIA, PRIMARY, 16, AURICULOCONDYLAR SYNDROME 1, MYOTUBULAR MYOPATHY, X-LINKED, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, IMMUNODEFICIENCY 19, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, EHLERS-DANLOS SYNDROME, TYPE IV, AURICULOCONDYLAR SYNDROME 2, WISKOTT-ALDRICH SYNDROME, DYSTONIA 25, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PARAGANGLIOMAS 3, HYPERPARATHYROIDISM, NEONATAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HYPOPHOSPHATASIA, INFANTILE, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, AURICULOCONDYLAR SYNDROME 3, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, KARTAGENER SYNDROME, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, RENAL TUBULAR DYSGENESIS, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, 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, GLUTAMINE DEFICIENCY, CONGENITAL, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, IMMUNODEFICIENCY 36, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSOMNIA, FATAL FAMILIAL, PROTEUS SYNDROME, SOMATIC

NDUFS8, F2, DNAH11, ADRB2, SDHC, NDUFA11, COL3A1, NDUFA1, AGT, GNAI3, CDK5, UBA1, DNAH5, EDN1, CD3D, B2M, NDUFS4, COX6B1, DNAH8, DNM2, MT-CO3, DNAI1, COX8A, DNAI2, SMAD4, CREBBP, SF3B4, PEX5, GRIP1, ERBB3, CASP8, NOTCH1, MYCN, TNF, RYR1, MT-ND6, LEP, PIK3CD, CCND1, NFKBIA, NDUFS2, MT-ND3, NDUFA2, NDUFA9, TNNT2, BDNF, WAS, NDUFA10, MT-CO1, BANF1, ALPL, NDUFB3, MT-ATP6, NDUFA12, SDHD, STAT1, CASR, NDUFS7, BCS1L, BMP2, AKT1, NDUFS1, DNAH14, CFTR, ATP5A1, MT-ND1, DCTN1, DNAH1, ACTA2, PTEN, RUNX2, NDUFV1, NDUFS3, FLNA, PRNP, TGFB1, SDHA, ATM, GNAL, NFKB1, MT-CO2, CACNA1C, PLG, NDUFV2, RANBP2, NDUFB9, GLUL, COX4I2, MT-ND5, NDUFS6, TUFM, HRAS, EGFR, ADA, DNAL1, PIK3R1, FLNB, PLCB4

BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, PNEUMOTHORAX, PRIMARY SPONTANEOUS, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, 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, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AMYOTROPHIC LATERAL SCLEROSIS 19, MYOPATHY, MYOFIBRILLAR, 2, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AURICULOCONDYLAR SYNDROME 3, 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, RENAL TUBULAR DYSGENESIS, SADDAN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, BIRT-HOGG-DUBE SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, FEINGOLD SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ?RENAL HYPODYSPLASIA/APLASIA 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, MICROPHTHALMIA, SYNDROMIC 12, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?TETRA-AMELIA SYNDROME, TUBEROUS SCLEROSIS 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, IMMUNODEFICIENCY 36, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, BEARE-STEVENSON CUTIS GYRATA SYNDROME, NON-IMMUNE HYDROPS FETALIS, OSTEOGLOPHONIC DYSPLASIA, NIJMEGEN BREAKAGE SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, SED CONGENITA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CORNELIA DE LANGE SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 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, POLYCYSTIC LIVER DISEASE, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, RENAL ADYSPLASIA, LARYNGOONYCHOCUTANEOUS SYNDROME, CROUZON SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PALLISTER-HALL SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LOEYS-DIETZ SYNDROME 4, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, PROTEUS SYNDROME, SOMATIC

TSC2, F2, KMT2A, COL1A1, SQSTM1, COL1A2, FTL, AGT, IRF7, CDK5, EDN1, ITGA3, NBN, WNT4, CREBBP, COL2A1, ERBB4, RARB, ACTA1, VRK1, TGFB2, KRAS, ERBB3, CASP8, FLCN, NOTCH1, MYCN, DAG1, TNF, GATA2, FGFR1, EDA, LEP, PIK3CD, PTCH2, NFKBIA, AIFM1, CBL, CCND1, JAK2, NKX2-1, CRYAB, GDNF, HSPD1, STAT3, PAX8, PTCH1, GJA1, SOX9, SUFU, SMAD4, SMAD9, STAT1, FLNA, LAMA3, VHL, BMP2, FGF20, AKT1, BIN1, PRKDC, LRP2, IKBKB, GLI3, PTEN, FGFR3, MUSK, HAMP, RUNX2, NRAS, LRP5, FZD6, LAMA2, TGFB1, WNT3, KMT2D, FGF10, NFKB1, PLG, FGFR2, PLCG2, WT1, CDKN1B, PDGFRA, RET, TUFM, HRAS, EGFR, DNMT3B, HSPG2, PIK3R1, FLNB, PORCN, TPM3, SHH

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, IMMUNODEFICIENCY 15, LEUKODYSTROPHY, HYPOMYELINATING, 4, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?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, IMMUNODEFICIENCY 21, PEUTZ-JEGHERS SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, SELECTIVE T-CELL DEFECT, MYOPATHY, MYOFIBRILLAR, 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, ?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, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, PARAGANGLIOMAS 3, MYOPATHY, MYOFIBRILLAR, 2, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CORNELIA DE LANGE SYNDROME 1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, RENAL TUBULAR DYSGENESIS, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, 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, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, SOX9, CAV3, F2, NFKB1, NDUFB3, GJA1, SELP, B2M, CASP8, CDK5, SMAD4, INPPL1, BCS1L, SDHD, NDUFA11, SDHA, TGFB1, MT-CO3, NOTCH1, FLNC, RPL5, FTL, NDUFA1, NDUFS4, AGT, BCL10, GATA2, HLA-DRB1, EDNRA, STAT3, MT-CO2, CACNA1C, LEP, RANBP2, NDUFA2, PIK3CD, AKT1, KMT2A, NDUFB9, CBL, CREBBP, STK11, NDUFA10, CCND1, NDUFS3, IL10, PIK3R1, COX6B1, EGFR, CRYAB, SDHC, ICOS, IKBKB, COX4I2, NDUFS8, NDUFS2, HLA-G, HSPD1, NDUFV2, HRAS, ITCH, NDUFS6, PRKAG2, NDUFA9, IFNG, COX8A, ZAP70, NDUFA12, HAMP, TNF, TSC1, NDUFV1, TYK2, JAK2, MT-ND3, NDUFS7, NDUFS1, PTEN, MT-CO1

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ATELOSTEOGENESIS, TYPE I, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, 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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, MYHRE SYNDROME, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, 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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FAMILIAL MEDITERRANEAN FEVER, AR, 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, 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, IMMUNODEFICIENCY 35, SMITH-LEMLI-OPITZ SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LARSEN SYNDROME, 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, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, 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, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, WRINKLY SKIN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, KAPPA LIGHT CHAIN DEFICIENCY, {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, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, MYOPATHY, MYOFIBRILLAR, 5, {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, ?IMMUNODEFICIENCY 37, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 8, AURICULOCONDYLAR SYNDROME 1, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, EHLERS-DANLOS SYNDROME, TYPE IV, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, ANGIOEDEMA, HEREDITARY, TYPES I AND II, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, FAMILIAL MEDITERRANEAN FEVER, AD, CARDIOMYOPATHY, HYPERTROPHIC, 17, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, MYOPATHY, MYOFIBRILLAR, 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, COMPLEMENT FACTOR I DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CROUZON SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, DYSAUTONOMIA, FAMILIAL, C1R/C1S DEFICIENCY, COMBINED, AGAMMAGLOBULINEMIA 3, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PROTEUS SYNDROME, SOMATIC

CAV1, CAV3, ADRB2, IFIH1, SQSTM1, CIITA, COL3A1, SFTPA2, AGT, IRF7, GNAI3, CD19, CDK5, DSG1, GJA1, BTK, B2M, CFL2, IL10, DNM2, NFKBIA, CD81, MEFV, SERPING1, CREBBP, IKBKAP, ATP6V0A2, ERBB4, TGFB2, KRAS, ERBB3, CBL, CASP8, SERPINA1, TBK1, CD79A, NOTCH1, DAG1, TNF, IL21, CD3E, TAF6, PIK3CD, RFXAP, IFNG, AIFM1, DSP, NFKBIL1, CCND1, MYOM1, STAT1, SUCLA2, CRYAB, F2, HSPD1, DYNC2H1, TMEM173, ACTA2, NLRP1, STAT3, TYK2, CTSD, FCGR2A, NCF1, REN, TNPO3, SFTPA1, SMAD4, AGTR1, JPH2, C1R, HLA-DRB1, CASR, LEP, NFKB2, BMP2, AKT1, TAPBP, CFTR, CFI, WAS, SEC63, ATP5A1, IKBKB, IGKC, DCTN1, EDN1, ITCH, PTEN, F13A1, MUSK, TUBB4A, RUNX2, OCLN, LCK, SSR4, FLNA, CORO1A, KCNQ1, BIN1, DHCR7, TGFB1, RFXANK, FCGR2B, CARD11, BCL10, NFKB1, TP63, MT-CO2, RFX5, PLG, FGFR2, PLCG2, PTPRC, CDKN1B, FCGR3A, FLNC, HRAS, EGFR, EPOR, ZAP70, SELP, CR2, PIK3R1, JAK2, FLNB, PEX5, SHH

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ATAXIA-TELANGIECTASIA, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, OSTEOGLOPHONIC DYSPLASIA, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, TIMOTHY SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, NON-IMMUNE HYDROPS FETALIS, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PULMONARY VENOOCCLUSIVE DISEASE 1, ULNAR-MAMMARY SYNDROME, AURICULOCONDYLAR SYNDROME 1, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, PRIMARY PULMONARY HYPERTENSION, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE I, AURICULOCONDYLAR SYNDROME 2, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, DYSTONIA 25, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, MYOPATHY, MYOFIBRILLAR, 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, OPSISMODYSPLASIA, AURICULOCONDYLAR SYNDROME 3, IMMUNODEFICIENCY 36, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, RENAL TUBULAR DYSGENESIS, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, 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, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT

KCNA5, LCK, NRAS, SCN5A, F2, KCNQ1, GNAI3, KRAS, CDK5, ERBB3, CAV3, SCNN1G, ADRB2, ADA, COX4I2, AGTR1, ATM, TPM2, TBX3, AGT, RYR1, EDNRA, NEB, MT-CO2, CACNA1C, PIK3CD, ECHS1, EDN1, SCN4B, RANBP2, INPPL1, BMPR2, MYH7, FGFR1, CFTR, COX6B1, GNAL, ATP1A3, KCNH2, COX8A, SOX9, DES, MT-CO3, AKT1, HRAS, EGFR, CASR, ACTA2, TPM3, TNNT2, PLCB4, CYB5R3, MYH11, ADCY6, TNF, STAT3, PIK3R1, GPD1L, DMD, MT-CO1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, LEUKODYSTROPHY, HYPOMYELINATING, 4, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, AGAMMAGLOBULINEMIA 4, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, OSTEOGENESIS IMPERFECTA, TYPE II, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MUSCULAR DYSTROPHY, CONGENITAL, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, IMMUNODEFICIENCY 14, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, IMMUNODEFICIENCY 43, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RUBINSTEIN-TAYBI SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, RENAL ADYSPLASIA, SED CONGENITA, KNIEST DYSPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYOPATHY, MYOFIBRILLAR, 2, MELNICK-NEEDLES SYNDROME, RHEUMATOID ARTHRITIS, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, 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}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, TUBEROUS SCLEROSIS 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, TIMOTHY SYNDROME, PEUTZ-JEGHERS SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, 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, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, RESTRICTIVE DERMOPATHY, LETHAL, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

ACE, FLNC, TGFB2, DSP, MYH11, ITGA8, ERBB3, CAV3, BLNK, EGFR, SMAD4, MYH7, CREBBP, LAMA2, TGFB1, HLA-G, COL1A2, FLNA, TPM2, CAV1, DAG1, LEP, TNF, DMD, HLA-DRB1, NFKB1, NEB, CACNA1C, BMP2, LMNA, EGR2, PIK3CD, AKT1, BIN1, IL13, CBL, STK11, PRKAG2, CCND1, IL10, SGCG, ITGA3, RPL5, CRYAB, CASP8, SOX9, DES, TTN, NCF1, IFNG, HSPD1, HRAS, GJA1, ITGA7, TNNT2, PTEN, CFTR, F13A1, ADCY6, B2M, TP63, DST, COL2A1, TPM3, PIK3R1

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, IMMUNODEFICIENCY 15, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, BASAL CELL NEVUS 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}, FOCAL DERMAL HYPOPLASIA, 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, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LARSEN SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, NON-IMMUNE HYDROPS FETALIS, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ATELOSTEOGENESIS, TYPE I, MYOPATHY, MYOFIBRILLAR, 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, [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}, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, RUBINSTEIN-TAYBI SYNDROME, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, ?TETRA-AMELIA SYNDROME, SED CONGENITA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, KNIEST DYSPLASIA, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, MYOTUBULAR MYOPATHY, X-LINKED, OSTEOGENESIS IMPERFECTA, TYPE II, CUTIS LAXA, AD, 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, MYOPATHY, MYOFIBRILLAR, 2, {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, PALLISTER-HALL SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BETHLEM MYOPATHY 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, APLASIA OF LACRIMAL AND SALIVARY GLANDS, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, 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, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, FRONTOMETAPHYSEAL DYSPLASIA, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, IMMUNODEFICIENCY 36, SERKAL SYNDROME, PROTEUS SYNDROME, SOMATIC

ACTA1, PTCH1, CAV3, EDNRA, GPC3, TGFB2, FGFR1, BIN1, ERBB3, NRAS, ELN, SMAD4, ADRB2, FLNC, PLCG2, WNT3, TNF, TGFB1, GDNF, NOTCH1, COL1A1, STAT1, CAV1, CASR, AGT, DMD, NFKB1, STAT3, EDA, BMP2, COL1A2, PIK3CD, AKT1, FZD6, FLNB, GJA1, F2, COL6A1, CCND1, CBL, EGR2, WT1, CRYAB, IKBKB, WNT4, DNM2, GLI3, PTEN, HRAS, EGFR, DAG1, KRAS, IFNG, MUSK, CREBBP, HSPG2, FGF10, ACVR1, FLNA, SHH, COL2A1, JAK2, RUNX2, PORCN, ERBB4, PIK3R1

TUBEROUS SCLEROSIS 2, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 43, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, RHEUMATOID ARTHRITIS, ?IMMUNODEFICIENCY 39, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET

STAT1, IRF7, B2M, TNF, TGFB1, IFNG, HLA-DRB1, EGFR, STAT3, HSPD1, IL10, HLA-G, CTLA4, JAK2, HRAS

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, 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, ?IMMUNODEFICIENCY 39, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, AMYOTROPHIC LATERAL SCLEROSIS 19, MYOPATHY, MYOFIBRILLAR, 2, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, SICKLE CELL ANEMIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, 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, IMMUNODEFICIENCY 35, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION 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, 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, CD8 DEFICIENCY, FAMILIAL, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, IMMUNODEFICIENCY 19, AURICULOCONDYLAR SYNDROME 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, SED CONGENITA, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, DYSTONIA 25, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, NIEMANN-PICK DISEASE, TYPE B, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AURICULOCONDYLAR SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, EHLERS-DANLOS SYNDROME, TYPE IV, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, LARYNGOONYCHOCUTANEOUS SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, C1R/C1S DEFICIENCY, COMBINED, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PROTEUS SYNDROME, SOMATIC

F2, HBB, CD3D, ADRB2, SQSTM1, CIITA, COL3A1, CYBA, AGT, IRF7, GNAI3, CDK5, EDN1, REN, BTK, IL4R, IL10, ERBB4, COL1A1, NFKBIA, NCF4, TBK1, COL2A1, CD81, MUSK, ACTA1, ACE, TGFB2, KRAS, GJA1, CBL, CASP8, CD8A, CPOX, DAG1, TNF, FGFR1, CD3E, LEP, COL1A2, PIK3CD, GFPT1, JAK2, DSP, CCND1, IFNG, STAT1, FCGR3A, NCF2, COL5A1, HSPD1, ACTA2, NLRP1, STAT3, DDR2, TYK2, COL11A2, NCF1, SMPD1, SOX9, AGTR1, C1R, HLA-DRB1, LAMA3, CTSD, VHL, ALOX5, BMP2, AKT1, TAPBP, PRKDC, CFTR, EGFR, IKBKB, DCTN1, PTEN, F13A1, LCK, CYBB, B2M, LAMA2, TGFB1, COL5A2, ATM, GNAL, NFKB1, MT-CO2, PLG, FCGR2B, PTPRC, CD3G, PIK3R1, CDKN1B, MYCN, CRYAB, HRAS, LRP2, SELP, ZAP70, HSPG2, FCGR2A, PLCB4, SHH

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 14, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?IMMUNODEFICIENCY 39, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, 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, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, PROTEUS SYNDROME, SOMATIC

LCK, ACE, GJA1, CASP8, CREBBP, IRF5, TGFB1, STAT1, AGT, IRF7, NFKB1, STAT3, CDK5, PIK3CD, AKT1, JAK2, BTK, IL10, NFKBIA, IKBKB, EGFR, IFNG, PTEN, TBK1, TNF, CR2, TYK2, IGKC, PIK3R1

BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, 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, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, 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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, 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}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, SADDAN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, LARSEN SYNDROME, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, FEINGOLD SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, ?RENAL HYPODYSPLASIA/APLASIA 2, JOUBERT SYNDROME 5, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, AURICULOCONDYLAR SYNDROME 2, MICROPHTHALMIA, SYNDROMIC 12, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?TETRA-AMELIA SYNDROME, TUBEROUS SCLEROSIS 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, IMMUNODEFICIENCY 36, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, BEARE-STEVENSON CUTIS GYRATA SYNDROME, NON-IMMUNE HYDROPS FETALIS, OSTEOGLOPHONIC DYSPLASIA, ATAXIA-TELANGIECTASIA, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, SED CONGENITA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, DYSTONIA 25, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, HEMOCHROMATOSIS TYPE 1, AURICULOCONDYLAR SYNDROME 1, CORNELIA DE LANGE SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, 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, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, MYOPATHY, MYOFIBRILLAR, 2, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, LARYNGOONYCHOCUTANEOUS SYNDROME, CROUZON SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PALLISTER-HALL SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LOEYS-DIETZ SYNDROME 4, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, PROTEUS SYNDROME, SOMATIC

TSC2, F2, FGFR1, KMT2A, ADRB2, COL1A2, RPL5, FTL, AGT, IRF7, GNAI3, CDK5, EDN1, WT1, EGR2, ITGA3, ERBB4, COL1A1, NFKBIA, WNT4, CREBBP, COL2A1, MUSK, RARB, ACTA1, SOX9, TGFB2, TRPV4, KRAS, ERBB3, CASP8, ADCY6, NOTCH1, MYCN, DAG1, TNF, GATA2, EDNRA, EDA, LEP, PIK3CD, PTCH2, JAK2, AIFM1, CBL, CCND1, IFNG, NKX2-1, CRYAB, GDNF, STAT3, PAX8, PTCH1, CAV3, GJA1, SUFU, SMAD4, AGTR1, CEP290, STAT1, LRP5, CASR, LAMA3, NFKB2, VHL, BMP2, HES7, HRAS, AKT1, BIN1, PRKDC, LRP2, IKBKB, GLI3, PTEN, FGFR3, RUNX2, NRAS, FLNA, FZD6, PTGER2, LAMA2, TGFB1, WNT3, ATM, GNAL, KMT2D, FGF10, NFKB1, PLG, FGFR2, PLCG2, PIK3R1, CDKN1B, PDGFRA, BDNF, RET, FGF20, EGFR, DNMT3B, NHP2, HSPG2, PLCB4, FLNB, PORCN, TPM3, SHH

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 15, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, TUBEROUS SCLEROSIS 2, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, SINGLETON-MERTEN SYNDROME 1, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?IMMUNODEFICIENCY 39, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, TENORIO SYNDROME, PROTEUS SYNDROME, SOMATIC

TMEM173, JAK2, STAT1, CREBBP, RNF125, CCND1, TNF, NFKB1, GJA1, IFNG, IL10, TBK1, CDKN1B, IKBKB, CASP8, IFIH1, NFKBIA, SQSTM1, AKT1, IRF7

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 15, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, 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, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, SELECTIVE T-CELL DEFECT, ?IMMUNODEFICIENCY 22, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, CD8 DEFICIENCY, FAMILIAL, TUBEROUS SCLEROSIS 2, IMMUNODEFICIENCY 36, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, PROTEUS SYNDROME, SOMATIC

LCK, NRAS, KRAS, CBL, CASP8, CD3D, CREBBP, CD8A, BCL10, HLA-DRB1, CCND1, TNF, NFKB2, NFKB1, CD3E, HRAS, PIK3CD, AKT1, IFNG, ICOS, CARD11, IL10, NFKBIA, IKBKB, CD3G, CTLA4, NCF4, EGFR, ZAP70, TBK1, STAT3, PTPRC, JAK2, PIK3R1

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, SINGLETON-MERTEN SYNDROME 1, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, 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, FOCAL DERMAL HYPOPLASIA, IMMUNODEFICIENCY, COMMON VARIABLE, 6, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NIJMEGEN BREAKAGE SYNDROME, 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, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), 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, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, MYOPATHY, MYOFIBRILLAR, 2, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 1, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FAMILIAL MEDITERRANEAN FEVER, AR, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 35, CORNELIA DE LANGE SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, FEINGOLD SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 4, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, 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}, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, FILS SYNDROME, IMMUNODEFICIENCY 19, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, BEARE-STEVENSON CUTIS GYRATA SYNDROME, {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, KAPPA LIGHT CHAIN DEFICIENCY, PRADER-WILLI SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ?TETRA-AMELIA SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 5, 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, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?IMMUNODEFICIENCY 37, TIMOTHY SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, ATAXIA-TELANGIECTASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, SED CONGENITA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, RESTRICTIVE DERMOPATHY, LETHAL, IMMUNODEFICIENCY, COMMON VARIABLE, 7, AGAMMAGLOBULINEMIA 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, 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, IMMUNODEFICIENCY, COMMON VARIABLE, 13, MEIER-GORLIN SYNDROME 2, TUBEROUS SCLEROSIS 2, CEREBELLOFACIODENTAL SYNDROME, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, PULMONARY HYPERTENSION, PRIMARY, 3, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OPITZ-KAVEGGIA SYNDROME, POLYCYSTIC LIVER DISEASE, BLOOM SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, FAMILIAL MEDITERRANEAN FEVER, AD, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, RENAL ADYSPLASIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, DYSAUTONOMIA, FAMILIAL, AGAMMAGLOBULINEMIA 3, 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}, APERT SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 12, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PULMONARY VENOOCCLUSIVE DISEASE 2, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

LMNA, NEU1, CAV1, FGFR1, CD3D, PRSS1, ADRB2, IFIH1, SQSTM1, CIITA, GLI3, COL1A2, RPL5, FTL, F2, IRF7, TARDBP, CDK5, KMT2A, BTK, IL4R, IL10, EGR2, IGHM, WT1, BAG3, COL1A1, DNM2, NFKBIA, NBN, SERPINH1, MEFV, WNT4, ADCY6, ECM1, IL13, COL2A1, IKZF1, CD81, PTEN, ACTA1, VRK1, PRSS2, MFN2, TGFB2, ACVR1, KRAS, TNFRSF13C, COPA, CASP8, PTPRC, TBK1, IRF5, CD79A, NOTCH1, MYCN, TNF, GATA2, EDNRA, CD3E, EDA, TAF6, PIK3CD, JAK2, CBL, IKBKAP, CCND1, TALDO1, IFNG, TAP1, IL2RG, NKX2-1, CRYAB, NDUFS2, GDNF, HSPD1, FCGR2B, EFTUD2, ACTA2, NLRP1, CREBBP, TP63, TYK2, IGKC, PAX8, CAV3, FLNC, GJA1, IL2RA, CSF2RB, BLNK, SMAD4, F13A1, MECP2, HLA-DRB1, CASR, LEP, NFKB2, VHL, RAPSN, BMP2, NDN, AKT1, EIF2AK4, CYBB, PRKDC, CFTR, MED12, FBN1, IKBKB, DCTN1, HLA-G, TERT, MUSK, IL1RN, HAMP, RUNX2, SH2D1A, LCK, NRAS, FLNA, FZD6, B2M, PRKCSH, BCL10, WNT3, ATM, JAK3, DTNBP1, BRF1, FGF10, TGFB1, STAT1, NFKB1, STAT3, MT-CO2, CACNA1C, CD19, PLG, POLE, RANBP2, BLM, FGFR2, PLCG2, TINF2, CD3G, CDKN1B, CPOX, PDGFRA, GPC3, RET, ORC4, TUFM, HRAS, EGFR, OCLN, ZAP70, FBP1, HSPG2, CR2, PIK3R1, TAP2, HFE, PORCN, PEX5, SHH

AGAMMAGLOBULINEMIA 6, IMMUNODEFICIENCY 15, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 37, RUBINSTEIN-TAYBI SYNDROME, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 7, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AGAMMAGLOBULINEMIA 3, OPSISMODYSPLASIA, AGAMMAGLOBULINEMIA, X-LINKED 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY, COMMON VARIABLE, 3, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 11, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

LCK, NRAS, KRAS, BLNK, BCL10, CARD11, CD79A, NFKB1, CR2, CD19, PIK3CD, AKT1, INPPL1, PRKDC, FCGR2B, PLCG2, CCND1, NFKBIA, IKBKB, HRAS, CREBBP, CD79B, BTK, STAT3, CD81, PIK3R1

IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, SELECTIVE T-CELL DEFECT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW 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, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, MYHRE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOTUBULAR MYOPATHY, X-LINKED, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, AMYOTROPHIC LATERAL SCLEROSIS 19, MUCOPOLYSACCHARIDOSIS IS, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, DYSAUTONOMIA, FAMILIAL, FARBER LIPOGRANULOMATOSIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, MUCOLIPIDOSIS II ALPHA/BETA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, FUCOSIDOSIS, 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, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SADDAN, IMMUNODEFICIENCY 35, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ?IMMUNODEFICIENCY 22, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, 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, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, WRINKLY SKIN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, MUCOPOLYSACCHARIDOSIS II, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, COMBINED SAP DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, GAUCHER DISEASE, TYPE I, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, NIEMANN-PICK DISEASE, TYPE A, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, GLYCOGEN STORAGE DISEASE II, ATAXIA-TELANGIECTASIA, NIEMANN-PICK DISEASE, TYPE C2, TRIFUNCTIONAL PROTEIN DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, DUCHENNE MUSCULAR DYSTROPHY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, IMMUNODEFICIENCY 8, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, MUCOPOLYSACCHARIDOSIS IH/S, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CHILD SYNDROME, TUBEROUS SCLEROSIS 2, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, KRABBE DISEASE, ATYPICAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AMYOTROPHIC LATERAL SCLEROSIS 17, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ASPARTYLGLUCOSAMINURIA, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MUCOPOLYSACCHARIDOSIS, MPS-III-A, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, RENAL ADYSPLASIA, KARTAGENER SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, C1R/C1S DEFICIENCY, COMBINED, AGAMMAGLOBULINEMIA 3, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, 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, MUCOPOLYSACCHARIDOSIS IVA, IMMUNODEFICIENCY 36, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 20, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

FUCA1, DNM2, CAV1, NCF1, ADRB2, GAA, SQSTM1, CIITA, PEX6, RPL5, SFTPA2, GUSB, AGT, IRF7, HEXA, AGTR1, VMA21, NCF4, NSDHL, GJA1, IDUA, IL4R, STK11, ARSB, COL1A1, GNPTAB, GALNS, DNAI2, CREBBP, IKBKAP, IL2RG, DYNC2H1, ERBB4, SOX9, TGFB2, ACVR1, KRAS, NFKB2, ERBB3, IL10, CASP8, EGFR, TBK1, CD79A, MYCN, TNF, IL21, ASAH1, NPC2, LEP, COPA, NFKBIA, CBL, TUBB4A, IFNG, TAP1, FCGR3A, NCF2, F2, HSPD1, ATP6V0A2, TMEM173, ABCD4, TP63, TYK2, PAM16, CTSD, FCGR2A, CAV3, SGSH, GLB1, SMPD1, IL2RA, SSR4, SFTPA1, SMAD4, GNS, C1R, HLA-DRB1, GMPPB, CASR, DMD, BMP2, AKT1, BIN1, MRPL3, CFTR, SEC63, LRP2, ATP5A1, IKBKB, DCTN1, CHMP2B, HLA-G, ITCH, MUSK, FGFR3, NEU1, ACVRL1, ACP5, BTK, HGSNAT, STAT3, SELP, LCK, PEX1, FLNA, CORO1A, PSAP, B2M, CYBB, TGFB1, ATM, FCGR2B, PIP5K1C, NAGLU, AP3B1, IDS, HADHB, STAT1, NFKB1, PEX7, PLG, IL13, FGFR2, TINF2, GBA, CYBA, GLA, PDGFRA, RET, AGA, TUFM, HRAS, LIPA, SCGB3A2, OCLN, ZAP70, HSPG2, CR2, PIK3R1, TAP2, HFE, PEX5, SHH

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NON-IMMUNE HYDROPS FETALIS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, FOCAL DERMAL HYPOPLASIA, 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, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, AURICULOCONDYLAR SYNDROME 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, AURICULOCONDYLAR SYNDROME 2, 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, ?TETRA-AMELIA SYNDROME, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, RUBINSTEIN-TAYBI SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, SERKAL SYNDROME, PROTEUS SYNDROME, SOMATIC

SOX9, FLNA, KRAS, NRAS, SMAD4, PTEN, ADCY6, WNT3, COL1A2, CASR, FGF10, GNAI3, EDA, BMP2, FZD6, EDN1, GJA1, CCND1, GDNF, AKT1, HRAS, MUSK, CREBBP, HAMP, PLCB4, RUNX2, PORCN, WNT4, SHH

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, IMMUNODEFICIENCY 15, LEUKODYSTROPHY, HYPOMYELINATING, 4, OSTEOGENESIS IMPERFECTA, TYPE III, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OSTEOGENESIS IMPERFECTA, TYPE II, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, FEINGOLD SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 14, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, MICROPHTHALMIA, SYNDROMIC 12, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, KABUKI SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, LARYNGOONYCHOCUTANEOUS SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

VHL, SMAD4, LAMA2, TGFB1, COL1A2, MYCN, KMT2D, DAG1, LAMA3, NFKB1, PIK3CD, AKT1, CDKN1B, PRKDC, PLG, CCND1, NFKBIA, ITGA3, IKBKB, HSPD1, HRAS, PTEN, RARB, CREBBP, TNF, SHH, COL2A1, PIK3R1

{SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, HYPER-IGE RECURRENT INFECTION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, 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, IMMUNODEFICIENCY 20, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, 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, MYOTUBULAR MYOPATHY, X-LINKED, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, WISKOTT-ALDRICH SYNDROME, {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], OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 35, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, NCF1, KRAS, IL4R, PTPRC, PIP5K1C, STAT3, CDK5, CFL2, AKT1, IFNG, INPPL1, FCGR2B, PLCG2, PIK3CD, WAS, JAK2, FCGR3A, DNM2, HRAS, EGFR, FCGR2A, TYK2, PIK3R1

IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 15, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, FEINGOLD SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, MYOPATHY, MYOFIBRILLAR, 2, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, 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, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, RUBINSTEIN-TAYBI SYNDROME, LOEYS-DIETZ SYNDROME 4, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

NRAS, TGFB2, KRAS, ERBB3, SMAD4, TGFB1, MYCN, TNF, NFKB1, PIK3CD, AKT1, CDKN1B, CBL, CCND1, NFKBIA, CRYAB, IKBKB, HRAS, EGFR, PTEN, CREBBP, PIK3R1

THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 2, AGAMMAGLOBULINEMIA 4, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, 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, SELECTIVE T-CELL DEFECT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, IMMUNODEFICIENCY 43, AGAMMAGLOBULINEMIA 1, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, RUBINSTEIN-TAYBI SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, AGAMMAGLOBULINEMIA 2, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY, COMMON VARIABLE, 4, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, OMENN SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, KAPPA LIGHT CHAIN DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AGAMMAGLOBULINEMIA, X-LINKED 1, TUBEROUS SCLEROSIS 2, IMMUNODEFICIENCY WITH HYPER IGM, TYPE 5, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, IMMUNODEFICIENCY 9, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

LCK, TNFRSF13B, AICDA, IL7R, TNFRSF13C, ICOS, BLNK, CD3D, RAG1, CD8A, CIITA, RFXANK, TAP1, DCLRE1C, CD79A, IGKC, STAT1, CD19, CD3E, RFX5, NOTCH1, RFXAP, IFNG, BTK, PRKDC, B2M, ORAI1, PTPRC, CCND1, CBL, NFKBIA, IGHM, IGLL1, UNG, RAG2, ZAP70, CREBBP, JAK3, ADA, TAP2, IL2RG

SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FIBROCHONDROGENESIS 2, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MELNICK-NEEDLES SYNDROME, ?MYOSCLEROSIS, CONGENITAL, ?OSTEOGENESIS IMPERFECTA, TYPE X, FRONTOMETAPHYSEAL DYSPLASIA, RENAL ADYSPLASIA, SED CONGENITA, KNIEST DYSPLASIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BETHLEM MYOPATHY 1, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE II, LARYNGOONYCHOCUTANEOUS SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

SOX9, F2, ITGA8, COL1A1, SERPINH1, COL6A2, LAMA2, TGFB1, COL5A2, FLNA, DAG1, LAMA3, COL11A2, VHL, COL5A1, BMP2, COL3A1, COL6A3, AKT1, DDR2, COL6A1, AGRN, ITGA3, COL1A2, RUNX2, ITGA7, SELP, HSPG2, TNF, PIK3R1, COL2A1, SNAP25, SHH

INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, ?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, SELECTIVE T-CELL DEFECT, IMMUNODEFICIENCY 43, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY, COMMON VARIABLE, 7, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, 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, KNIEST DYSPLASIA, IMMUNODEFICIENCY 19, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AGAMMAGLOBULINEMIA 1, RHEUMATOID ARTHRITIS, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, KAPPA LIGHT CHAIN DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY, COMMON VARIABLE, 5, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, IMMUNODEFICIENCY 36, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY, COMMON VARIABLE, 3, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY, COMMON VARIABLE, 6, PROTEUS SYNDROME, SOMATIC

LCK, CSF2RB, F2, ZAP70, IL7R, IL2RA, IL4R, CD3D, CD8A, HLA-DRB1, FLNA, TNF, IGKC, CR2, CD3E, LEP, IL1RN, AKT1, IFNG, IL13, B2M, PTPRC, CD3G, IL10, SELP, JAK2, ITGA3, IGHM, CBL, CD19, MS4A1, EPOR, MYH11, AGT, STAT3, COL2A1, CD81, NHP2, PIK3R1

MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, NON-IMMUNE HYDROPS FETALIS, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS IS, MUCOPOLYSACCHARIDOSIS II, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MUCOPOLYSACCHARIDOSIS IH/S, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), MUCOPOLYSACCHARIDOSIS IVA, MUCOPOLYSACCHARIDOSIS, MPS-III-A

SGSH, ARSB, GLB1, NAGLU, GNS, IDS, GUSB, HSPG2, HEXA, HGSNAT, NEU1, IDUA, TGFB1, GALNS

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, IMMUNODEFICIENCY 15, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {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 14, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, PEUTZ-JEGHERS SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, MYOPATHY, MYOFIBRILLAR, 2, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, 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, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, MYOPATHY, MYOFIBRILLAR, 5, TUBEROUS SCLEROSIS-1, PARAGANGLIOMAS 3, RENAL TUBULAR DYSGENESIS, EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC