RESPIRATORY

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NON-IMMUNE HYDROPS FETALIS, CODAS SYNDROME, ANGIOEDEMA, HEREDITARY, TYPES I AND II, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ANGIOEDEMA, HEREDITARY, TYPE III, COMPLEMENT FACTOR I DEFICIENCY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, C1R/C1S DEFICIENCY, COMBINED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 1, KAPPA LIGHT CHAIN DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {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, 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, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

PRSS2, CAV1, PROC, MYH11, PRSS1, CASP8, SERPINA1, CREBBP, HABP2, TGFB1, COL1A2, C1R, F2, AGT, IGKC, BMP2, CDK5, LEP, PLG, AKT1, CBL, LONP1, CFI, SELP, IFNG, COL1A1, NEU1, DES, F12, RUNX2, FKBP14, EGFR, ACTA2, ADA, CTRC, F13A1, HAMP, HSPG2, TNF, STAT3, HFE, SERPING1, SHH

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, ARTHROGRYPOSIS, DISTAL, TYPE 5, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, NON-IMMUNE HYDROPS FETALIS, LONG QT SYNDROME 13, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, METATROPIC DYSPLASIA, MYOPATHY, TUBULAR AGGREGATE, 1, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, AURICULOCONDYLAR SYNDROME 3, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, LEUKODYSTROPHY, HYPOMYELINATING, 4, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, ?MARDEN-WALKER SYNDROME, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, PRIMARY PULMONARY HYPERTENSION, PSEUDOHYPOALDOSTERONISM, TYPE I, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, MYOPATHY, MYOFIBRILLAR, 5, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, TIMOTHY SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, MELNICK-NEEDLES SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, MYASTHENIC SYNDROME, CONGENITAL, 16, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CARDIOMYOPATHY, HYPERTROPHIC, 17, ESCOBAR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, IMMUNODEFICIENCY 9, EPISODIC PAIN SYNDROME, FAMILIAL, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, PROTEUS SYNDROME, SOMATIC

KCNA5, CAV3, STIM1, SCN2A, ALPL, KCNQ1, KRAS, CDK5, TSC2, SCNN1G, SERPINA1, PTEN, CHRNG, KCNJ5, NALCN, SCNN1B, TNF, TGFB1, SQSTM1, SCN5A, CREBBP, CAV1, DAG1, CNTN1, DMD, SCNN1A, CACNA1C, CHRNE, CHRNA1, KCNJ8, FLNA, AKT1, CYBA, SCN4B, GJA1, SCN4A, CCND1, B2M, ORAI1, PIEZO2, SELP, IFNG, SEC63, ERBB4, PIEZO1, KCNH2, LRP2, NKX2-1, ADRB2, NCF2, GATA2, CHRNB1, HSPD1, EDN1, HRAS, FLNC, EGFR, ITGA7, JPH2, KCNQ2, SNAP25, MUSK, TRPV4, BDNF, ADCY6, AGT, STAT3, CFTR, EFEMP2, CHRND, PAM16, CTSD, TRPA1, RYR1, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, AGAMMAGLOBULINEMIA 6, SHPRINTZEN-GOLDBERG SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYOPATHY, MYOFIBRILLAR, 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DYSTONIA 27, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, PULMONARY VENOOCCLUSIVE DISEASE 1, SED CONGENITA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], KNIEST DYSPLASIA, RENAL TUBULAR DYSGENESIS, PRIMARY PULMONARY HYPERTENSION, OSTEOGLOPHONIC DYSPLASIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, KAPPA LIGHT CHAIN DEFICIENCY, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NETHERTON SYNDROME, VAN DEN ENDE-GUPTA SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, RUBINSTEIN-TAYBI SYNDROME, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, IMMUNODEFICIENCY 43, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, DIAPHANOSPONDYLODYSOSTOSIS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, FRONTOMETAPHYSEAL DYSPLASIA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

SERPINC1, F2, FGFR1, REN, ERBB3, IL10, CASP8, SERPINA1, CREBBP, CD79A, FLNA, COL1A2, STAT1, FTL, CCND1, CASR, LEP, AGT, TGFB1, IGKC, VHL, STAT3, BMP2, SCARF2, NOTCH1, COL6A3, AKT1, PROS1, B2M, PLG, SPINK1, IL2RA, CDKN1B, COL1A1, FLNC, SERPINH1, EGFR, BMPER, SERPING1, SPINK5, TNF, CD79B, BMPR2, COL2A1, KIF1BP, PTEN, PIK3R1

MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, 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, 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, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, 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, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, CUTIS LAXA, AD, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {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, PULMONARY HYPERTENSION, PRIMARY, 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, RENAL TUBULAR DYSGENESIS, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, PROTEUS SYNDROME, SOMATIC

CAV1, GJA1, ELN, LAMA2, TGFB1, NOTCH1, DAG1, AGT, SMAD9, PLG, AKT1, IL13, CCND1, AGRN, ITGA3, COL1A1, EGFR, ITGA7, HSPG2, TNF, ECM1, PTPRC, RUNX2, SHH

SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OTOPALATODIGITAL SYNDROME, TYPE II, OSTEOGENESIS IMPERFECTA, TYPE II, 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, ?OSTEOGENESIS IMPERFECTA, TYPE X, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, CUTIS LAXA, AD, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, BETHLEM MYOPATHY 1, TUBEROUS SCLEROSIS 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, OSTEOGENESIS IMPERFECTA, TYPE III, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, IMMUNODEFICIENCY 36

CCBE1, F2, DDR2, ELN, SMAD4, LAMA2, TGFB1, COL1A2, FLNA, AGT, BMP2, COL6A1, SERPINH1, B2M, IFNG, ITGA3, COL1A1, HRAS, MYH11, HSPG2, TNF, STAT3, COL2A1, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, BASAL CELL NEVUS SYNDROME, 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, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, THANATOPHORIC DYSPLASIA, TYPE I, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ATELOSTEOGENESIS, TYPE I, 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, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, CEREBROCOSTOMANDIBULAR SYNDROME, ANGIOEDEMA, HEREDITARY, TYPE III, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, IMMUNODEFICIENCY, COMMON VARIABLE, 6, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AMYOTROPHIC LATERAL SCLEROSIS 19, MYOPATHY, MYOFIBRILLAR, 2, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NIEMANN-PICK DISEASE, TYPE A, HYPOPHOSPHATASIA, INFANTILE, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, HEMOCHROMATOSIS TYPE 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, FRASER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DUANE-RADIAL RAY SYNDROME, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ?RENAL HYPODYSPLASIA/APLASIA 2, IMMUNODEFICIENCY 19, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 35, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, ULNAR-MAMMARY SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, LARSEN SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, ?IMMUNODEFICIENCY 22, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, FEINGOLD SYNDROME, CD8 DEFICIENCY, FAMILIAL, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, DIAMOND-BLACKFAN ANEMIA 6, JOUBERT SYNDROME-3, DYSKERATOSIS CONGENITA, X-LINKED, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE, RENAL TUBULAR DYSGENESIS, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, PRIMARY PULMONARY HYPERTENSION, JOUBERT SYNDROME 5, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, AURICULOCONDYLAR SYNDROME 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, AURICULOCONDYLAR SYNDROME 2, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, SADDAN, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, COMBINED SAP DEFICIENCY, EPILEPSY, PYRIDOXINE-DEPENDENT, MYOPATHY, MYOFIBRILLAR, 5, JOUBERT SYNDROME 6, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, 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, COACH SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, AGAMMAGLOBULINEMIA 6, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, MICROPHTHALMIA, SYNDROMIC 12, IMMUNODEFICIENCY, COMMON VARIABLE, 3, WISKOTT-ALDRICH SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ATAXIA-TELANGIECTASIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 14, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SED CONGENITA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, DYSTONIA 25, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, PULMONARY VENOOCCLUSIVE DISEASE 1, TUBEROUS SCLEROSIS 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SECKEL SYNDROME 9, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PULMONARY HYPERTENSION, PRIMARY, 3, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, ENCEPHALOPATHY, NEONATAL SEVERE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, KRABBE DISEASE, ATYPICAL, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, CORNELIA DE LANGE SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?IMMUNODEFICIENCY 13, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, MYOPATHY, MYOFIBRILLAR, 6, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AGAMMAGLOBULINEMIA 4, BLOOM SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ESCOBAR 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}, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE IV, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, RENAL ADYSPLASIA, 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, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, METATROPIC DYSPLASIA, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, AGAMMAGLOBULINEMIA 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, PALLISTER-HALL SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, KABUKI SYNDROME 1, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, DYSAUTONOMIA, FAMILIAL, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

CAV1, SHH, SQSTM1, EDNRA, CD3D, TRAIP, ADRB2, PLEKHG5, CHRNG, CD8A, CIITA, GLI3, COL3A1, RPL5, FTL, F2, TBX3, AGT, IGKC, GNAI3, CDK5, ASCC1, DKC1, UBA1, EDN1, KCNH2, DDR2, BTK, PAX8, ADGRG6, ENG, CCL11, EGR2, WT1, SIX3, TGFB2, BAG3, COL1A1, DNM2, NFKBIA, ITGA8, NCF4, LTBP4, EFEMP2, ADCY6, CD79B, BLM, COL2A1, IL2RG, CD81, SF3B4, ERBB4, RARB, ACTA1, VRK1, GRIP1, ECHS1, FBLN5, NFKB2, ERBB3, CBL, ELN, PTPRC, TBK1, IRF5, AGTR1, CD79A, PIGT, NOTCH1, ALDH7A1, MYCN, DAG1, TNF, GATA2, FGFR1, ECM1, CD3E, EDA, LEP, COL1A2, PIK3CD, IL7R, PTCH2, LIFR, AIFM1, GJA1, DSP, SMARCE1, IKBKAP, CCND1, JAK2, STAT1, ELOVL4, NRAS, NKX2-1, CRYAB, SOX9, FGFR3, GDNF, HSPD1, TMEM173, IFNG, SH2D1A, CREBBP, TP63, KMT2A, AHI1, TYK2, SUFU, IRF7, BMPR2, KCNA5, PTCH1, NCF1, TAPT1, RET, ALPL, HFE2, REN, IL2RA, CSF2RB, BLNK, SMAD4, SNRPB, SMPD1, SMAD9, CEP290, HLA-DRB1, FLNA, CASR, CNTN1, CTSD, VHL, CHRNA1, PEX5, ACVR1, CHRNE, BMP2, FGF20, FZD6, IL1RN, AKT1, KRAS, PRKDC, FLNB, ASCL1, CFTR, WAS, SEC63, EGFR, FBN1, IL21R, LRP2, TBX21, DCTN1, CASP8, UNC119, HLA-G, DSG1, TINF2, SCGB3A2, KCNQ2, MUSK, TRPV4, HAMP, ACVRL1, RUNX2, PTEN, POLA1, LCK, SERPINC1, SH2B3, LRP5, KCNQ1, ZAP70, PSAP, B2M, IL17RA, SLC12A6, IL4R, IL10, PTGER2, PRKCSH, TGFB1, ATM, FCGR2B, JAK3, KMT2D, FGF10, NFKB1, STAT3, MT-CO2, CD19, EBP, PLG, RANBP2, IL13, FGFR2, PLCG2, MECP2, CD3G, SALL4, CDKN1B, GNAL, PDGFRA, BDNF, PHOX2B, FLNC, COPA, F12, PTH1R, ICOS, HFE, HRAS, TMEM67, ITGA7, DNMT3B, ADA, EPOR, MYH11, IKBKB, HSPG2, SELP, CR2, PLCB4, ACE, KIF1BP, IL21, PIK3R1

TUBEROUS SCLEROSIS 2, LEUKODYSTROPHY, HYPOMYELINATING, 4, IMMUNODEFICIENCY 43, RHEUMATOID ARTHRITIS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {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, ?IMMUNODEFICIENCY 22

LCK, TAP1, B2M, IL10, IFNG, HLA-DRB1, TNF, HLA-G, HSPD1, HFE, TAPBP

IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, GLUTAMINE DEFICIENCY, CONGENITAL, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 10, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, DYSAUTONOMIA, FAMILIAL, 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, 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, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 35, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, PULMONARY HYPERTENSION, PRIMARY, 3, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, PSEUDOHYPOALDOSTERONISM, TYPE I, RHEUMATOID ARTHRITIS, MYOPATHY, MYOFIBRILLAR, 1, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OPSISMODYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, NIEMANN-PICK DISEASE, TYPE A, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, TIMOTHY SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, 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, CARDIOMYOPATHY, HYPERTROPHIC, 17, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ULNAR-MAMMARY SYNDROME, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, METATROPIC DYSPLASIA, AGAMMAGLOBULINEMIA 3, OMENN SYNDROME, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, 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, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, NCF1, CAV3, CAV1, TRPV4, BIN1, CDK5, SOX9, CASP8, SMAD4, TPI1, IL4R, TBK1, PLA2G7, PIGT, AKT1, TGFB1, FLNA, RAPSN, RPL5, DOK7, TBX3, AGT, CD79A, DMD, STAT1, NFKB1, STAT3, SCNN1A, CACNA1C, NCF4, PIK3CD, GLUL, MUSK, EDN1, BTK, SMPD1, INPPL1, PRKDC, GJA1, CBL, ECHS1, COL2A1, CCND1, IKBKAP, IL10, WAS, JAK2, EGFR, LRP5, MTM1, LRP2, IKBKB, SERPINA1, DCTN1, KCNQ2, DNM2, DES, F2, HSPD1, SNAP25, HRAS, ITCH, CASR, ACTA2, JPH2, FHL1, TERT, CREBBP, HSPG2, TNF, TP63, KMT2A, AMER1, RAG2, TYK2, PLG, KIF1BP, PTEN, PIK3R1

IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, PROPIONICACIDEMIA, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ?IMMUNODEFICIENCY 37, BEARE-STEVENSON CUTIS GYRATA SYNDROME, GLUTAMINE DEFICIENCY, CONGENITAL, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, PEUTZ-JEGHERS SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, THANATOPHORIC DYSPLASIA, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, NIJMEGEN BREAKAGE SYNDROME, ATELOSTEOGENESIS, TYPE I, SELECTIVE T-CELL DEFECT, TARP SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, BLOOM SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, INTERSTITIAL LUNG AND LIVER DISEASE, IMMUNODEFICIENCY 14, PULMONARY VENOOCCLUSIVE DISEASE 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, TRIMETHYLAMINURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, 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, DYSKERATOSIS CONGENITA, X-LINKED, METATROPIC DYSPLASIA, KRABBE DISEASE, ATYPICAL, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, AGAMMAGLOBULINEMIA, X-LINKED 1, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FRASER SYNDROME, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, AURICULOCONDYLAR SYNDROME 3, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, MEIER-GORLIN SYNDROME 1, SINGLETON-MERTEN SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, IMMUNODEFICIENCY 43, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SADDAN, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 35, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, VLCAD DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, LARSEN SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, ?IMMUNODEFICIENCY 22, MEIER-GORLIN SYNDROME 2, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, CD8 DEFICIENCY, FAMILIAL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, CENTRONUCLEAR MYOPATHY 5, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, RENAL TUBULAR DYSGENESIS, FILS SYNDROME, JOUBERT SYNDROME 5, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PSEUDOHYPOALDOSTERONISM, TYPE I, PITT-HOPKINS SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, OTOPALATODIGITAL SYNDROME, TYPE II, TUBEROUS SCLEROSIS 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, KAPPA LIGHT CHAIN DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), {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, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, OPSISMODYSPLASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, COMBINED SAP DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, MYOPATHY, MYOFIBRILLAR, 5, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, IMMUNODEFICIENCY 36, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, NESTOR-GUILLERMO PROGERIA SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ARTS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ATAXIA-TELANGIECTASIA, TRIFUNCTIONAL PROTEIN DEFICIENCY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, LEUKODYSTROPHY, HYPOMYELINATING, 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, NON-IMMUNE HYDROPS FETALIS, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PRIMARY PULMONARY HYPERTENSION, IMMUNODEFICIENCY 8, AURICULOCONDYLAR SYNDROME 1, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), CILIARY DYSKINESIA, PRIMARY, 6, MYHRE SYNDROME, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, DYSTONIA 25, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, FRENCH-CANADIAN TYPE, JOUBERT SYNDROME 8, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, SENGERS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, OPITZ-KAVEGGIA SYNDROME, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CILIARY DYSKINESIA, PRIMARY, 28, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, TUBEROUS SCLEROSIS-1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MEIER-GORLIN SYNDROME 4, MYASTHENIC SYNDROME, CONGENITAL, 16, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SPINAL MUSCULAR ATROPHY-1, IMMUNODEFICIENCY 11, ?IMMUNODEFICIENCY 13, AMYOTROPHIC LATERAL SCLEROSIS 21, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, POLYCYSTIC LIVER DISEASE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, MCKUSICK-KAUFMAN SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ASPARAGINE SYNTHETASE DEFICIENCY, NEU-LAXOVA SYNDROME 1, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, PLEUROPULMONARY BLASTOMA, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, RESTRICTIVE DERMOPATHY, LETHAL, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MYOPATHY, MYOFIBRILLAR, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, D-2-HYDROXYGLUTARIC ACIDURIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, RENAL ADYSPLASIA, KARTAGENER SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SIALURIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, AGAMMAGLOBULINEMIA 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PALLISTER-HALL SYNDROME, TUMOR PREDISPOSITION SYNDROME, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, DYSAUTONOMIA, FAMILIAL, APERT SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, 2-METHYLBUTYRYLGLYCINURIA, {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, CODAS SYNDROME, KABUKI SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PULMONARY VENOOCCLUSIVE DISEASE 2, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, PROTEUS SYNDROME, SOMATIC

TSC2, HLCS, AGK, CAV1, TREX1, EDNRA, DNAH11, CDK5, COQ9, NCF1, MECP2, SDHD, NAA10, ADRB2, NEK1, MFN2, LBR, CD8A, CIITA, PEX6, RPL5, IRF7, FTL, F2, NDUFA1, RNASEH1, PCCB, GNAI3, TCF4, AGTR1, MARS, DKC1, RANBP2, DNAH14, DNAH5, KCNJ8, EDN1, BTK, MCCC2, REN, TK2, IGHMBP2, STK11, CFL2, IL10, IL2RA, EGR2, WT1, ITCH, TGFB2, FBP1, MMAB, DNM2, NFKBIA, CDT1, NBN, POLE, NCF4, PIP5K1C, SGCG, SPAG1, ACADSB, POR, HADHA, CYB5R3, ALPL, NEK8, INPP5E, ADCY6, PRKAG2, IKBKAP, IL2RG, DNMT3B, ETFDH, CTSD, SF3B4, MMAA, NUBPL, ACTA1, AIFM1, VRK1, DNAJB6, SCN4A, MYOM1, FGFR3, KRAS, NFKB2, ERBB3, CBL, SCNN1G, SQSTM1, EGFR, CDKL5, MYH7, TBK1, IRF5, VHL, LONP1, COL1A1, CD79A, PIGT, NOTCH1, PARN, DCLRE1C, DAG1, TNF, GATA2, HLA-DRB1, FGFR1, ACVRL1, SCNN1A, TAF6, LMNA, SNIP1, PIK3CD, CPOX, COPA, GFPT1, JAK2, EXOSC8, PLOD1, GJA1, MEGF10, SMARCE1, AARS2, CCND1, CRYAB, IFNG, TPM2, RBM10, TAP1, SUCLA2, NRAS, NKX2-1, NAGLU, PDGFRA, NCF2, NDUFS2, MKKS, HSPD1, DYNC2H1, TMEM173, EFTUD2, ABCD4, CASR, ACTA2, IFIH1, NLRP1, SPEG, SLC22A4, AGT, STAT3, POLA1, NDUFA10, SSR4, SNAP25, BIN1, PCK1, BMPR2, TUFM, CAV3, BANF1, UNC119, YARS2, SHH, DDR2, TNPO3, GLE1, BLNK, SMAD4, ATP5A1, MTHFR, RPS28, MYCN, SMAD9, CEP290, ECM1, SUCLG1, TSFM, GMPPB, GRIP1, IARS2, LEP, CNTN1, MATR3, SOX9, NARS2, BCS1L, ACVR1, RAPSN, BMP2, TRIM2, POMK, FLNA, GLUL, AKT1, CYBA, EIF2AK4, SIK1, TPI1, HADHB, PRKDC, FLNB, FMO3, MRPL3, UBA1, LRPPRC, WAS, ETFA, BAP1, SEC63, DMD, PHOX2B, LRP2, PHGDH, IGKC, DCTN1, CASP8, DNA2, ORC4, MED12, MCM4, DNAH1, TINF2, MCCC1, TTN, SARS2, KCNQ2, ORC1, GNE, KAT6A, ERBB4, TRPV4, MUSK, TNNT2, NME8, SDHA, EIF4A3, TUBB4A, RUNX2, NDUFS1, OCLN, NDUFV1, LCK, DDX41, ACE, ASNS, CORO1A, ZAP70, PSAP, SELP, B2M, CYBB, TBCK, INPPL1, ACADVL, JAGN1, TARDBP, ASCL1, PRKCSH, ABCA3, LAMA2, PEX1, SCN5A, JAK3, KMT2D, CFTR, AP3B1, TERT, TGFB1, ETFB, STAT1, NFKB1, TP63, MT-CO2, D2HGDH, PRPS1, CARD11, PLG, PCCA, KIF7, BLM, ATM, FGFR2, CREBBP, TYK2, CDKN1B, NEU1, GNAL, OFD1, RTEL1, BDNF, SNRPB, BCL10, DNAH8, FLNC, RET, PTEN, HRAS, COL1A2, POLG, RARS2, ARL13B, NHP2, MYH11, IKBKB, EXOC8, TSC1, PIK3R1, TAP2, ATP1A3, GPD1L, PEX5, SKI, DICER1

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, 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, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ACHONDROPLASIA, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AMYOTROPHIC LATERAL SCLEROSIS 19, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, RENAL ADYSPLASIA, CROUZON SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, 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, GELEOPHYSIC DYSPLASIA 2, SADDAN, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

EGFR, FGFR1, KRAS, PLG, F2, FGFR3, ERBB4, ERBB3, FGFR2, PDGFRA, STAT3, FBN1, RET, DDR2, AKT1, MUSK, PIK3R1

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, THANATOPHORIC DYSPLASIA, TYPE II, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OSTEOGLOPHONIC DYSPLASIA, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, SHPRINTZEN-GOLDBERG SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACHONDROPLASIA, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, CROUZON SYNDROME, SELECTIVE T-CELL DEFECT, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, RENAL ADYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, GELEOPHYSIC DYSPLASIA 2, AMYOTROPHIC LATERAL SCLEROSIS 19, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, KRABBE DISEASE, ATYPICAL, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, AGAMMAGLOBULINEMIA, X-LINKED 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, COMBINED SAP DEFICIENCY, APLASIA OF LACRIMAL AND SALIVARY GLANDS, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, IMMUNODEFICIENCY 36, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, RENAL TUBULAR DYSGENESIS, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SADDAN, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 35, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

LCK, F2, FGFR3, PSAP, ERBB3, FGFR2, CDK5, SQSTM1, JAK3, AGT, FGFR1, TP63, NEK1, HRAS, PLG, AKT1, DDR2, BTK, PRKDC, COPA, CCND1, JAK2, PDGFRA, FBN1, RET, NCF4, EGFR, ERBB4, ZAP70, FGF10, STAT3, SKI, TYK2, MUSK, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, IMMUNODEFICIENCY 8, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, LEUKODYSTROPHY, HYPOMYELINATING, 4, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, MYOPATHY, MYOFIBRILLAR, 5, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, OTOPALATODIGITAL SYNDROME, TYPE II, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, CARDIOMYOPATHY, HYPERTROPHIC, 17, ?IMMUNODEFICIENCY 22, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, LONG QT SYNDROME 13, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, IMMUNODEFICIENCY 43, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PULMONARY VENOOCCLUSIVE DISEASE 1, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, MELNICK-NEEDLES SYNDROME, PRIMARY PULMONARY HYPERTENSION, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, OSTEOGLOPHONIC DYSPLASIA, METATROPIC DYSPLASIA, HYPEREKPLEXIA 3, PSEUDOHYPOALDOSTERONISM, TYPE I, MYOPATHY, TUBULAR AGGREGATE, 1, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), HYPER-IGE RECURRENT INFECTION SYNDROME, HYPOPHOSPHATASIA, INFANTILE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, FRONTOMETAPHYSEAL DYSPLASIA, TUBEROUS SCLEROSIS 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, PULMONARY ALVEOLAR MICROLITHIASIS, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, IMMUNODEFICIENCY 9, AURICULOCONDYLAR SYNDROME 3, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, TIMOTHY SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PULMONARY HYPERTENSION, PRIMARY, 3, ULNAR-MAMMARY SYNDROME, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, EPISODIC PAIN SYNDROME, FAMILIAL, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MYASTHENIC SYNDROME, CONGENITAL, 16, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, TRANSALDOLASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

KCNA5, LCK, TSC2, EDN1, STIM1, FLNC, SLC6A5, KCNQ1, GJA1, CDK5, ERBB3, CAV3, SCNN1G, SLC12A6, SERPINA1, KCNJ5, NALCN, SCNN1B, TNF, SMAD9, SQSTM1, SCN5A, SLC34A2, CAV1, TBX3, CNTN1, TGFB1, DMD, FGFR1, SCNN1A, CACNA1C, CHRNE, KCNJ8, FLNA, AKT1, SCN4B, SLC5A7, B2M, SCN4A, ORAI1, CCND1, ADRB2, SEC63, EFEMP2, ATP1A3, KCNH2, LRP2, NKX2-1, SUCLA2, SCN2A, HSPD1, PTEN, EGFR, ALPL, AP3B1, KCNQ2, RYR1, SNAP25, JPH2, TRPV4, TALDO1, ADCY6, AGT, STAT3, CFTR, BMPR2, PAM16, CTSD, TRPA1, CORO1A, SHH, DAG1

SHPRINTZEN-GOLDBERG SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [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}, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, RENAL ADYSPLASIA, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?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, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

CSF2RB, KRAS, IL2RA, IL10, IL17RA, TGFB1, STAT1, TNF, IL21, LIFR, LEP, EDN1, IL7R, IL13, IL4R, IFNG, IL21R, IL2RG, TBX21, RET, GDNF, AKT1, EGFR, EPOR, IL1RN, STAT3, JAK2, KIF1BP, PTEN

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NON-IMMUNE HYDROPS FETALIS, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, PULMONARY HYPERTENSION, PRIMARY, 3, ANGIOEDEMA, HEREDITARY, TYPES I AND II, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, 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, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, COMPLEMENT FACTOR I DEFICIENCY, ANGIOEDEMA, HEREDITARY, TYPE III, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, C1R/C1S DEFICIENCY, COMBINED, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, MYOPATHY, MYOFIBRILLAR, 1, KAPPA LIGHT CHAIN DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {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, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CODAS SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

PRSS2, CAV1, PROC, MYH11, PRSS1, CASP8, SMAD4, CREBBP, HABP2, TGFB1, COL1A2, C1R, F2, AGT, IGKC, BMP2, CDK5, LEP, PLG, AKT1, CBL, LONP1, CFI, SELP, IFNG, TERT, COL1A1, NEU1, DES, F12, RUNX2, FKBP14, EGFR, ACTA2, ADA, CTRC, F13A1, SERPINA1, HAMP, HSPG2, TNF, STAT3, HFE, SERPING1, SHH

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, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, PULMONARY VENOOCCLUSIVE DISEASE 1, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, AMYOTROPHIC LATERAL SCLEROSIS 19, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, IMMUNODEFICIENCY 35, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, RAINE SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, CENTRONUCLEAR MYOPATHY 5, FILS SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SADDAN, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, NESTOR-GUILLERMO PROGERIA SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ATAXIA-TELANGIECTASIA, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, PRIMARY PULMONARY HYPERTENSION, IMMUNODEFICIENCY 8, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PULMONARY HYPERTENSION, PRIMARY, 3, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, ?IMMUNODEFICIENCY 22, TUBEROUS SCLEROSIS-1, ENCEPHALOPATHY, NEONATAL SEVERE, COMBINED SAP DEFICIENCY, MEIER-GORLIN SYNDROME 4, KRABBE DISEASE, ATYPICAL, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, MYOPATHY, MYOFIBRILLAR, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, RENAL ADYSPLASIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, DYSAUTONOMIA, FAMILIAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 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, ?MICROPHTHALMIA, SYNDROMIC 1, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 12, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PULMONARY VENOOCCLUSIVE DISEASE 2, PROTEUS SYNDROME, SOMATIC

TSC2, DNM2, CAV1, NCF1, ADRB2, NAA10, LBR, SQSTM1, F2, AGT, IRF7, CDK5, EDN1, KCNH2, DDR2, BTK, STK11, CFL2, FAM20C, ENG, EGR2, ERBB4, NEK8, DES, CDT1, NCF4, LTBP4, CREBBP, ECM1, IKBKAP, SF3B4, MUSK, ACTA1, VRK1, TGFB2, ACVR1, KRAS, ERBB3, COPA, SCNN1G, CDKL5, TBK1, NOTCH1, MYCN, TNF, GATA2, FGFR1, SCNN1A, MECP2, PIK3CD, FASTKD2, AIFM1, CBL, CCND1, JAK2, SPEG, CRYAB, ACTA2, NKX2-1, BIN1, TP63, TYK2, COL11A2, BMPR2, KCNA5, CAV3, BANF1, ALPL, GJA1, IL2RA, SOX9, BLNK, SMAD4, F13A1, SMAD9, SNIP1, SUCLG1, STAT1, NFKB2, BMP2, POMK, AKT1, EIF2AK4, SIK1, PRKDC, ASCL1, CFTR, WAS, FBN1, IKBKB, SKI, ITCH, TTN, PTEN, FGFR3, ACVRL1, POLA1, LCK, FLNA, KCNQ1, PSAP, TBCK, TGFB1, ATM, JAK3, CARD11, FGF10, BCL10, NFKB1, STAT3, NEK1, PLG, POLE, FGFR2, CDKN1B, PDGFRA, BDNF, RET, HRAS, EGFR, OCLN, ZAP70, TSC1, PIK3R1, GPD1L, CORO1A, SHH

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, AMYOTROPHIC LATERAL SCLEROSIS 19, OPITZ GBBB SYNDROME, TYPE II, DYSAUTONOMIA, FAMILIAL, HYPOPHOSPHATASIA, INFANTILE, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DUANE-RADIAL RAY SYNDROME, PITT-HOPKINS SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 35, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ULNAR-MAMMARY SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PANCREATIC AND CEREBELLAR AGENESIS, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, 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}, DYSKERATOSIS CONGENITA, X-LINKED, FRONTOMETAPHYSEAL DYSPLASIA, VELOCARDIOFACIAL SYNDROME, PRIMARY PULMONARY HYPERTENSION, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, MICROPHTHALMIA, SYNDROMIC 12, NESTOR-GUILLERMO PROGERIA SYNDROME, ATAXIA-TELANGIECTASIA, OSTEOGENESIS IMPERFECTA, TYPE II, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, SED CONGENITA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, GENITOPATELLAR SYNDROME, {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, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ENCEPHALOPATHY, NEONATAL SEVERE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, OPITZ-KAVEGGIA SYNDROME, CEREBELLOFACIODENTAL SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, RENAL ADYSPLASIA, RETT SYNDROME, CONGENITAL VARIANT, CROUZON SYNDROME, 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, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CODAS SYNDROME, KABUKI SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

F2, KMT2A, COL1A1, CIITA, TBX3, AGT, IRF7, CDK5, EDN1, BTK, MYH7, EGR2, WT1, ITCH, SIX3, CREBBP, COL2A1, SPECC1L, PTEN, RARB, PTCH1, SOX9, GRIP1, ERBB3, CASP8, TBK1, IRF5, LONP1, NOTCH1, CPOX, PTF1A, TNF, GATA2, TAF6, NFKBIA, SMARCE1, IKBKAP, CCND1, IFNG, NKX2-1, KAT6B, GDNF, BAP1, TP63, TBX1, KAT6A, PAX8, BANF1, ALPL, DKC1, SUFU, SMAD4, PURA, SMAD9, MECP2, STAT1, PCK1, BMP2, AKT1, PRKDC, ASCL1, CFTR, MED12, SOX18, TBX21, SKI, GLI3, TERT, ERBB4, HAMP, SCGB1A1, TRIP4, RUNX2, FLNA, FOXG1, TGFB1, ATM, KMT2D, BRF1, FGF10, NFKB1, STAT3, TCF4, BMPR2, FGFR2, TYK2, SALL4, CDKN1B, BDNF, PHOX2B, RET, ARX, FOXF1, EGFR, DNMT3B, SFTPC, IKBKB, PIK3R1, TINF2, JAK2, SHH

MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CUTIS LAXA, AD, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, OSTEOGENESIS IMPERFECTA, TYPE III, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, URBACH-WIETHE DISEASE, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR

EGFR, ITGA7, DAG1, CCND1, TNF, TGFB1, AGRN, ITGA3, ELN, HSPG2, ECM1, COL1A1, LAMA2, SMAD9, SHH

BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, MYASTHENIC SYNDROME, CONGENITAL, 10, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, BLOOM SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AMYOTROPHIC LATERAL SCLEROSIS 19, MYOPATHY, MYOFIBRILLAR, 2, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, METATROPIC DYSPLASIA, HERMANSKY-PUDLAK SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, PITT-HOPKINS SYNDROME, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 35, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CD8 DEFICIENCY, FAMILIAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, 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, PRIMARY PULMONARY HYPERTENSION, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, RHEUMATOID ARTHRITIS, TUBEROUS SCLEROSIS 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ATAXIA-TELANGIECTASIA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {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, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, TUBEROUS SCLEROSIS-1, ENCEPHALOPATHY, NEONATAL SEVERE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ULNAR-MAMMARY SYNDROME, KARTAGENER SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, 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, CILIARY DYSKINESIA, PRIMARY, 29, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

TSC2, CAV1, CD8A, MS4A2, RPL5, TBX3, AGT, CDK5, EDN1, BTK, STK11, CBL, ITGA3, TERT, DNM2, DOK7, EFEMP2, CREBBP, PRKAG2, IL13, COL2A1, SF3B4, ERBB4, SOX9, GRIP1, SIK1, MEGF10, ADCY6, IRF5, SQSTM1, NOTCH1, PARN, TNF, TPM3, EDNRA, CD3E, DSP, CCND1, JAK2, EFTUD2, NKX2-1, TMEM173, ACTA2, TALDO1, WAS, TYK2, SNAP25, KCNA5, CAV3, GJA1, SUFU, SMAD4, AGTR1, MECP2, STAT1, FLNA, CASR, DMD, USP9X, AKT1, MRPL3, DTNBP1, LRP2, IKBKB, DCTN1, ITCH, TTN, KCNQ2, PTEN, TRPV4, MUSK, ACVRL1, SELP, POLA1, LCK, CCNO, KCNQ1, SLC12A6, IL10, PRKCSH, TGFB1, SCN5A, JAK3, CFTR, BCL10, NFKB1, STAT3, TCF4, CARD11, BLM, ATM, PTPRC, CDKN1B, CRYAB, BDNF, HRAS, EGFR, OCLN, MYH11, TSC1, SKI, TINF2, TUFM, PIK3R1

BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, MYASTHENIC SYNDROME, CONGENITAL, 10, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AMYOTROPHIC LATERAL SCLEROSIS 19, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, METATROPIC DYSPLASIA, HERMANSKY-PUDLAK SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, PITT-HOPKINS SYNDROME, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 35, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {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, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CD8 DEFICIENCY, FAMILIAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, 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, PRIMARY PULMONARY HYPERTENSION, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, {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, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ATAXIA-TELANGIECTASIA, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {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, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, TUBEROUS SCLEROSIS-1, ENCEPHALOPATHY, NEONATAL SEVERE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BLOOM SYNDROME, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, MYOPATHY, MYOFIBRILLAR, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ULNAR-MAMMARY SYNDROME, KARTAGENER SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, 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, CILIARY DYSKINESIA, PRIMARY, 29, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 12, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

TSC2, CAV1, KMT2A, CD8A, MS4A2, RPL5, TBX3, AGT, CDK5, EDN1, BTK, STK11, CBL, ITGA3, TERT, DNM2, DOK7, EFEMP2, CREBBP, PRKAG2, IL13, COL2A1, SF3B4, ERBB4, SOX9, GRIP1, KRAS, MEGF10, ADCY6, IRF5, SQSTM1, NOTCH1, PARN, TNF, TPM3, EDNRA, CD3E, TAF6, COPA, AIFM1, DSP, CCND1, JAK2, NKX2-1, TMEM173, ACTA2, TALDO1, WAS, TYK2, SNAP25, KCNA5, CAV3, GJA1, SUFU, SMAD4, AGTR1, MECP2, STAT1, FLNA, CASR, DMD, USP9X, AKT1, SIK1, PRKDC, MRPL3, DTNBP1, LRP2, IKBKB, DCTN1, ITCH, TTN, KCNQ2, PTEN, TRPV4, MUSK, PTPN22, ACVRL1, EIF4A3, SELP, POLA1, LCK, CCNO, KCNQ1, SLC12A6, IL10, PRKCSH, TGFB1, SCN5A, JAK3, CFTR, BCL10, NFKB1, STAT3, TCF4, CARD11, BLM, ATM, PTPRC, CDKN1B, CRYAB, BDNF, HRAS, EGFR, ITGA7, OCLN, MYH11, TSC1, SKI, TINF2, TUFM, PIK3R1

?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 15, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, PULMONARY ALVEOLAR MICROLITHIASIS, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, GLUTAMINE DEFICIENCY, CONGENITAL, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, NON-IMMUNE HYDROPS FETALIS, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PULMONARY VENOOCCLUSIVE DISEASE 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, HERMANSKY-PUDLAK SYNDROME 1, 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, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PITT-HOPKINS SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ?IMMUNODEFICIENCY 22, GREENBERG SKELETAL DYSPLASIA, CILIARY DYSKINESIA, PRIMARY, 33, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CD8 DEFICIENCY, FAMILIAL, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, 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}, RUBINSTEIN-TAYBI SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, VELOCARDIOFACIAL SYNDROME, AGNATHIA-OTOCEPHALY COMPLEX, PRIMARY PULMONARY HYPERTENSION, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PSEUDOHYPOALDOSTERONISM, TYPE I, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, PITT-HOPKINS-LIKE SYNDROME 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, ?TETRA-AMELIA SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], OPSISMODYSPLASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, SERKAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, TIMOTHY SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ATAXIA-TELANGIECTASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OSTEOGENESIS IMPERFECTA, TYPE II, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY 8, AURICULOCONDYLAR SYNDROME 1, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, WISKOTT-ALDRICH SYNDROME, GENITOPATELLAR SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, OPITZ-KAVEGGIA 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, OPITZ GBBB SYNDROME, TYPE I, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ENCEPHALOPATHY, NEONATAL SEVERE, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, AMYOTROPHIC LATERAL SCLEROSIS 17, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, FAMILIAL MEDITERRANEAN FEVER, AD, PLEUROPULMONARY BLASTOMA, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MYHRE SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, RENAL ADYSPLASIA, ?IMMUNODEFICIENCY 37, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, DYSAUTONOMIA, FAMILIAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, PALLISTER-HALL SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ?MICROPHTHALMIA, SYNDROMIC 1, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, HERMANSKY-PUDLAK SYNDROME 7, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

GAS8, CAV1, CD3D, NCF1, ADRB2, NAA10, SCNN1A, LBR, CD8A, CIITA, MS4A2, MID1, RPL5, NRXN1, F2, AGT, GNAI3, AGTR1, UBA1, EDN1, BTK, CD3E, IL4R, STK11, SELP, EGR2, WT1, ERBB4, FBP1, COL1A1, DNM2, DES, NCF4, EFEMP2, MEFV, AGRN, WNT4, CREBBP, CNTNAP1, SF3B4, PTEN, ACTA1, SOX9, GRIP1, ACVR1, KRAS, ERBB3, TERT, SCNN1G, CDKL5, TBK1, IRF5, SQSTM1, NOTCH1, GLUL, DAG1, TNF, RYR1, HLA-DRB1, EDNRA, PRRX1, TAF6, PIK3CD, SGCG, AIFM1, CBL, SMARCE1, IKBKAP, CCND1, JAK2, EFTUD2, KAT6B, NCF2, GDNF, NLRP1, SLC22A4, TP63, DTNBP1, TBX1, SNAP25, BMPR2, KCNA5, CAV3, BANF1, GJA1, SMAD4, CDK5, SCNN1B, MECP2, RAPSN, STAT1, LRP5, CASR, CNTN1, DMD, PQBP1, SLC34A2, BMP2, PIK3R1, AKT1, CYBA, INPPL1, PRKDC, MRPL3, CFTR, WAS, MED12, EGFR, TBX21, CASP8, CHMP2B, GLI3, ITCH, PEX5, TRPV4, MUSK, PTPN22, RUNX2, OCLN, POLA1, LCK, FLNA, CORO1A, ZAP70, FZD6, B2M, ASCL1, WNT3, TGFB1, SCN5A, PIP5K1C, CARD11, FGF10, BCL10, DICER1, STAT3, CACNA1C, TCF4, PLG, ATM, NIPBL, ITGA3, CDKN1B, PDGFRA, BDNF, RET, PTH1R, HRAS, LRP2, DNMT3B, EPOR, MYH11, IKBKB, EXOC8, NEB, SKI, TINF2, TUFM, GATA2, SHH

CILIARY DYSKINESIA, PRIMARY, 28, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, PROPIONICACIDEMIA, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, GLUTAMINE DEFICIENCY, CONGENITAL, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, PEUTZ-JEGHERS SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, THANATOPHORIC DYSPLASIA, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, ATELOSTEOGENESIS, TYPE I, SELECTIVE T-CELL DEFECT, TARP SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NIJMEGEN BREAKAGE SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, BLOOM SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, INTERSTITIAL LUNG AND LIVER DISEASE, IMMUNODEFICIENCY 14, PULMONARY VENOOCCLUSIVE DISEASE 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, 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, DYSKERATOSIS CONGENITA, X-LINKED, METATROPIC DYSPLASIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, AGAMMAGLOBULINEMIA, X-LINKED 1, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FRASER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, AURICULOCONDYLAR SYNDROME 3, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, MEIER-GORLIN SYNDROME 1, SINGLETON-MERTEN SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, IMMUNODEFICIENCY 43, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SADDAN, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, IMMUNODEFICIENCY 35, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, 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, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, ?IMMUNODEFICIENCY 22, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, CENTRONUCLEAR MYOPATHY 5, RENAL TUBULAR DYSGENESIS, FILS SYNDROME, JOUBERT SYNDROME 5, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PSEUDOHYPOALDOSTERONISM, TYPE I, PITT-HOPKINS SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, OTOPALATODIGITAL SYNDROME, TYPE II, TUBEROUS SCLEROSIS 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, KAPPA LIGHT CHAIN DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, OPSISMODYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, COMBINED SAP DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, MYOPATHY, MYOFIBRILLAR, 5, OMENN SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, IMMUNODEFICIENCY 36, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, BEARE-STEVENSON CUTIS GYRATA SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, NESTOR-GUILLERMO PROGERIA SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ARTS SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ATAXIA-TELANGIECTASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, NON-IMMUNE HYDROPS FETALIS, METHYLMALONIC ACIDURIA CBLB TYPE, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PRIMARY PULMONARY HYPERTENSION, IMMUNODEFICIENCY 8, AURICULOCONDYLAR SYNDROME 1, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), CILIARY DYSKINESIA, PRIMARY, 6, MYHRE SYNDROME, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, WISKOTT-ALDRICH SYNDROME, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), JOUBERT SYNDROME 8, SENGERS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MEIER-GORLIN SYNDROME 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HEMOCHROMATOSIS TYPE 1, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, TUBEROUS SCLEROSIS-1, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, ENCEPHALOPATHY, NEONATAL SEVERE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MEIER-GORLIN SYNDROME 4, KRABBE DISEASE, ATYPICAL, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, ?IMMUNODEFICIENCY 13, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, POLYCYSTIC LIVER DISEASE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, MCKUSICK-KAUFMAN SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, ASPARAGINE SYNTHETASE DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, PLEUROPULMONARY BLASTOMA, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, RENAL ADYSPLASIA, KARTAGENER SYNDROME, ?IMMUNODEFICIENCY 37, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SIALURIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, AGAMMAGLOBULINEMIA 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, SPINAL MUSCULAR ATROPHY-1, PALLISTER-HALL SYNDROME, TUMOR PREDISPOSITION SYNDROME, DYSTONIA 25, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, DYSAUTONOMIA, FAMILIAL, APERT SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, PULMONARY VENOOCCLUSIVE DISEASE 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, 2-METHYLBUTYRYLGLYCINURIA, {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, CODAS SYNDROME, KABUKI SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PROTEUS SYNDROME, SOMATIC, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4

TSC2, HLCS, AGK, CAV1, TREX1, EDNRA, DNAH11, CAV3, MECP2, NAA10, ADRB2, ORC1, IFIH1, LBR, PIGT, CIITA, PEX6, RPL5, IRF7, FTL, F2, NDUFA1, RNASEH1, PCCB, GNAI3, LEP, AGTR1, MARS, DKC1, RANBP2, DNAH14, DNAH5, KCNJ8, EDN1, BTK, MCCC2, REN, TK2, IGHMBP2, STK11, CFL2, IL10, PRPS1, EGR2, WT1, ITCH, TGFB2, FBP1, MMAB, DNM2, NEK1, NFKBIA, CDT1, NBN, POLE, NCF4, PIP5K1C, SGCG, SPAG1, ACADSB, CYB5R3, ALPL, NEK8, INPP5E, ADCY6, ECM1, IKBKAP, DNMT3B, DYNC2H1, SF3B4, MMAA, NUBPL, ACTA1, VRK1, MFN2, GRIP1, MYOM1, FGFR3, KRAS, NFKB2, ERBB3, CBL, SCNN1G, CDKL5, MYH7, TBK1, IRF5, VHL, COL1A1, CD79A, SQSTM1, NOTCH1, MYCN, DCLRE1C, DAG1, TNF, GATA2, HLA-DRB1, FGFR1, NME8, SCNN1A, TAF6, SNIP1, PIK3CD, CPOX, COPA, GFPT1, JAK2, EXOSC8, AIFM1, GJA1, MEGF10, LONP1, AARS2, CCND1, CRYAB, IFNG, TPM2, RBM10, TAP1, SUCLA2, NRAS, NKX2-1, PDGFRA, SOX9, NDUFS2, MKKS, HSPD1, BAP1, TMEM173, EFTUD2, ABCD4, CASR, ACTA2, TNNT2, NLRP1, SPEG, SLC22A4, AGT, STAT3, NDUFA10, SNAP25, BIN1, CTSD, BMPR2, TUFM, NCF1, BANF1, RET, YARS2, SHH, DDR2, IL2RA, DDX41, BLNK, SMAD4, ATP5A1, CDK5, RPS28, SMAD9, CEP290, SUCLG1, STAT1, GMPPB, FLNA, IARS2, CNTN1, PCK1, NFKB1, NARS2, BCS1L, ACVR1, RAPSN, BMP2, TRIM2, POMK, SSR4, GLUL, AKT1, EIF2AK4, SIK1, TPI1, PRKDC, NDUFS1, MRPL3, UBA1, CFTR, WAS, ETFA, SEC63, EGFR, ATP1A3, LRP2, IKBKB, IGKC, DCTN1, CASP8, DNA2, UNC119, ORC4, MCM4, DNAH1, TINF2, MCCC1, TTN, SARS2, KCNQ2, GNE, KAT6A, ERBB4, TRPV4, MUSK, ACVRL1, EIF4A3, TUBB4A, RUNX2, OCLN, POLA1, LCK, GLE1, ACE, ASNS, CORO1A, ZAP70, PSAP, B2M, TBCK, INPPL1, JAGN1, TARDBP, ASCL1, PRKCSH, ABCA3, LAMA2, PEX1, ATM, JAK3, KMT2D, NAGLU, AP3B1, TGFB1, DICER1, DMD, PHOX2B, TP63, MT-CO2, TCF4, CARD11, PCCA, PRKAG2, KIF7, BLM, SCN5A, FGFR2, CREBBP, TYK2, CDKN1B, GNAL, OFD1, RTEL1, BDNF, SNRPB, BCL10, DNAH8, FLNC, PTEN, HRAS, POLG, RARS2, ARL13B, NHP2, MYH11, TERT, EXOC8, TSC1, PIK3R1, TAP2, FLNB, GPD1L, PEX5, SKI

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, BASAL CELL NEVUS SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, OSTEOGLOPHONIC DYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, NIEMANN-PICK DISEASE, TYPE C2, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CROUZON SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, PALLISTER-HALL SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, APERT SYNDROME, TUBEROUS SCLEROSIS 2, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PULMONARY HYPERTENSION, PRIMARY, 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, CEROID LIPOFUSCINOSIS, NEURONAL, 10, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES

ACTA1, PTCH1, ACE, CAV1, AGT, CTSD, FGFR1, STAT3, MT-CO2, LEP, EGR2, AGRN, PRKDC, FGFR2, MRPL3, CDKN1B, EGFR, ATP1A3, LRP2, BDNF, GLI3, TERT, IFNG, CREBBP, HSPG2, TNF, NPC2, RUNX2

BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, APERT SYNDROME, ?IMMUNODEFICIENCY 22, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY, COMMON VARIABLE, 10, IMMUNODEFICIENCY, COMMON VARIABLE, 7, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MELNICK-NEEDLES SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, PULMONARY VENOOCCLUSIVE DISEASE 1, RENAL ADYSPLASIA, SED CONGENITA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], KNIEST DYSPLASIA, PRIMARY PULMONARY HYPERTENSION, GELEOPHYSIC DYSPLASIA 2, CUTIS LAXA, AD, CROUZON SYNDROME, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, DONNAI-BARROW SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, MYOPATHY, MYOFIBRILLAR, 2, EHLERS-DANLOS SYNDROME, TYPE IV, MYOPATHY, TUBULAR AGGREGATE, 1, PITT-HOPKINS-LIKE SYNDROME 2, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, KAPPA LIGHT CHAIN DEFICIENCY, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, BETHLEM MYOPATHY 1, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {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}, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, FRONTOMETAPHYSEAL DYSPLASIA, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, COMMON VARIABLE, 6, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME

KCNA5, LCK, STIM1, RET, CAV1, SHH, FBLN5, NFKB2, DSP, ELN, COL1A1, TGFB1, COL3A1, SCGB1A1, NRXN1, FGFR2, F2, CASR, COL6A1, AGT, GATA2, CR2, COL5A1, LEP, NOTCH1, PLG, EDN1, ITGA8, B2M, ASCL1, PTPRC, CCND1, CBL, SELP, IFNG, ITGA3, EGFR, CRYAB, FBN1, ADAMTS13, COL1A2, DSG1, LTBP4, LRP2, ITGA7, DAG1, FLNA, HSPG2, TNF, STAT3, DST, BMPR2, COL2A1, CD81, IGKC, PIK3R1

{ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, IMMUNODEFICIENCY 14, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, HYPER-IGE RECURRENT INFECTION SYNDROME, PEUTZ-JEGHERS SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, RUBINSTEIN-TAYBI SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, RENAL TUBULAR DYSGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, FRASER SYNDROME, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

EGFR, STK11, PIK3CD, CCND1, CBL, SELP, PTEN, ERBB3, BMP2, CREBBP, GRIP1, AGT, PRKAG2, TINF2, STAT3, AKT1, TGFB1, JAK2, SHH

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, 3-M SYNDROME 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, OSTEOGLOPHONIC DYSPLASIA, FIBROCHONDROGENESIS 2, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, AGAMMAGLOBULINEMIA 4, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, 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, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, ?IMMUNODEFICIENCY 22, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DUCHENNE MUSCULAR DYSTROPHY, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, {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}, MYOTUBULAR MYOPATHY, X-LINKED, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, AMYOTROPHIC LATERAL SCLEROSIS 19, BEARE-STEVENSON CUTIS GYRATA SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, DYSAUTONOMIA, FAMILIAL, RHEUMATOID ARTHRITIS, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, HYPER-IGE RECURRENT INFECTION SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, APERT SYNDROME, OPSISMODYSPLASIA, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CROUZON SYNDROME, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

ACTA1, LCK, NCF1, F2, KRAS, CAV3, BLNK, PTPRC, PTEN, CREBBP, COL1A2, HLA-DRB1, FGFR2, DAG1, RYR1, DMD, FGFR1, TP63, CDK5, EDN1, DDR2, INPPL1, AIFM1, DSP, CNTNAP1, LRPPRC, CBL, ERBB4, LRP2, DCTN1, COL1A1, DNM2, DES, AKT1, HRAS, EGFR, KCNQ2, SH2D1A, MYH11, NRAS, STAT3, IKBKAP, CUL7, COL11A2, PIK3R1

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, BASAL CELL NEVUS SYNDROME, 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, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, PULMONARY VENOOCCLUSIVE DISEASE 1, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, AMYOTROPHIC LATERAL SCLEROSIS 19, OPITZ GBBB SYNDROME, TYPE II, DYSAUTONOMIA, FAMILIAL, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, FRASER SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DUANE-RADIAL RAY SYNDROME, PITT-HOPKINS SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 35, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ULNAR-MAMMARY SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PANCREATIC AND CEREBELLAR AGENESIS, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, 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}, DYSKERATOSIS CONGENITA, X-LINKED, FRONTOMETAPHYSEAL DYSPLASIA, VELOCARDIOFACIAL SYNDROME, PRIMARY PULMONARY HYPERTENSION, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, MICROPHTHALMIA, SYNDROMIC 12, NESTOR-GUILLERMO PROGERIA SYNDROME, ATAXIA-TELANGIECTASIA, OSTEOGENESIS IMPERFECTA, TYPE II, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, SED CONGENITA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, GENITOPATELLAR SYNDROME, {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, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ENCEPHALOPATHY, NEONATAL SEVERE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, OPITZ-KAVEGGIA SYNDROME, CEREBELLOFACIODENTAL SYNDROME, 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, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, RENAL ADYSPLASIA, RETT SYNDROME, CONGENITAL VARIANT, CROUZON SYNDROME, 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, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, CODAS SYNDROME, KABUKI SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

F2, KMT2A, COL1A1, CIITA, TBX3, AGT, IRF7, CDK5, EDN1, BTK, MYH7, EGR2, WT1, ITCH, SIX3, CREBBP, COL2A1, SPECC1L, PTEN, RARB, PTCH1, SOX9, GRIP1, ERBB3, CASP8, TBK1, LONP1, NOTCH1, CPOX, PTF1A, TNF, GATA2, TAF6, NFKBIA, SMARCE1, IKBKAP, CCND1, IFNG, NKX2-1, KAT6B, GDNF, BAP1, TP63, TBX1, KAT6A, PAX8, BANF1, DKC1, SUFU, SMAD4, PURA, SMAD9, MECP2, STAT1, PCK1, BMP2, AKT1, PRKDC, ASCL1, CFTR, MED12, SOX18, TBX21, SKI, GLI3, TERT, ERBB4, HAMP, SCGB1A1, TRIP4, RUNX2, FLNA, FOXG1, TGFB1, ATM, KMT2D, BRF1, FGF10, NFKB1, STAT3, TCF4, BMPR2, FGFR2, TYK2, SALL4, CDKN1B, BDNF, PHOX2B, RET, ARX, FOXF1, EGFR, DNMT3B, SFTPC, IKBKB, PIK3R1, TINF2, JAK2, SHH

HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, GLUTAMINE DEFICIENCY, CONGENITAL, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SINGLETON-MERTEN SYNDROME 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, BLOOM SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, MELNICK-NEEDLES SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PULMONARY VENOOCCLUSIVE DISEASE 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, DYSKERATOSIS CONGENITA, X-LINKED, MEIER-GORLIN SYNDROME 1, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AURICULOCONDYLAR SYNDROME 3, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, FILS SYNDROME, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, ?IMMUNODEFICIENCY 13, HERMANSKY-PUDLAK SYNDROME 2, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, NON-IMMUNE HYDROPS FETALIS, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ATAXIA-TELANGIECTASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PRIMARY PULMONARY HYPERTENSION, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), WISKOTT-ALDRICH SYNDROME, DYSTONIA 25, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, CODAS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, POLYCYSTIC LIVER DISEASE, PLEUROPULMONARY BLASTOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYHRE SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, KARTAGENER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, SPINAL MUSCULAR ATROPHY-1, PALLISTER-HALL SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CEROID LIPOFUSCINOSIS, NEURONAL, 10, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

TSC2, CAV1, DNAH11, LMNA, ADRB2, MFN2, PIGT, CIITA, PEX6, RPL5, AGT, GNAI3, CDK5, DNAH14, DNAH5, EDN1, GJA1, EIF4A3, MYH7, KIF7, DNM2, CDT1, DNAI1, DNAI2, CREBBP, DYNC2H1, PTEN, ACTA1, IFIH1, GRIP1, ACVR1, KRAS, CBL, IRF5, SQSTM1, NOTCH1, CPOX, TNF, HLA-DRB1, TAF6, COPA, JAK2, EXOSC8, MEGF10, LONP1, CCND1, IFNG, TPM2, TAP1, SSR4, HSPD1, EFTUD2, ABCD4, ACTA2, TNNT2, WAS, SNAP25, BMPR2, ALPL, DKC1, REN, CCL11, PEX1, DNAH8, SMAD4, STAT1, GMPPB, CASR, CTSD, SNRPB, BMP2, AKT1, TAPBP, PRKDC, ASCL1, CFTR, SEC63, ATP1A3, DCTN1, DNA2, MCM4, DNAH1, PEX5, B2M, TUBB4A, SELP, POLA1, DDX41, FLNA, IGHMBP2, JAGN1, PRKCSH, ABCA3, LAMA2, ATM, GNAL, AP3B1, TGFB1, DICER1, NFKB1, STAT3, ORC1, POLE, RANBP2, BLM, TINF2, CDKN1B, GLUL, RTEL1, ATP5A1, UNC119, HRAS, EGFR, DNMT3B, NHP2, MYH11, EXOC8, NDUFS2, TAP2, TUFM, PIK3R1

HYPER-IGE RECURRENT INFECTION SYNDROME, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, THANATOPHORIC DYSPLASIA, TYPE I, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?IMMUNODEFICIENCY 39, PULMONARY VENOOCCLUSIVE DISEASE 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 19, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, 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, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 35, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, SINGLETON-MERTEN SYNDROME 1, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, KAPPA LIGHT CHAIN DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, MYOPATHY, MYOFIBRILLAR, 5, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ARTS SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), CILIARY DYSKINESIA, PRIMARY, 6, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, MEIER-GORLIN SYNDROME 2, HEMOCHROMATOSIS TYPE 1, TUBEROUS SCLEROSIS-1, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, PLEUROPULMONARY BLASTOMA, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, TARP SYNDROME, EHLERS-DANLOS SYNDROME, TYPE IV, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, KARTAGENER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, DYSAUTONOMIA, FAMILIAL, AGAMMAGLOBULINEMIA 3, 2-METHYLBUTYRYLGLYCINURIA, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, PROTEUS SYNDROME, SOMATIC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, GLUTAMINE DEFICIENCY, CONGENITAL, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, ATELOSTEOGENESIS, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, NIJMEGEN BREAKAGE SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MEIER-GORLIN SYNDROME 1, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, PROPIONICACIDEMIA, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, SHPRINTZEN-GOLDBERG SYNDROME, ATAXIA-TELANGIECTASIA, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DYSKERATOSIS CONGENITA, X-LINKED, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, PRIMARY PULMONARY HYPERTENSION, JOUBERT SYNDROME 5, PSEUDOHYPOALDOSTERONISM, TYPE I, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, OPSISMODYSPLASIA, HERMANSKY-PUDLAK SYNDROME 2, VAN DEN ENDE-GUPTA SYNDROME, IMMUNODEFICIENCY 36, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NON-IMMUNE HYDROPS FETALIS, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DUCHENNE MUSCULAR DYSTROPHY, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, DYSTONIA 25, ?MYASTHENIC SYNDROME, CONGENITAL, 18, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, CILIARY DYSKINESIA, PRIMARY, 28, ?IMMUNODEFICIENCY 22, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, KRABBE DISEASE, ATYPICAL, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, IMMUNODEFICIENCY 11, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, BLOOM SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, ASPARAGINE SYNTHETASE DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ULNAR-MAMMARY SYNDROME, ?IMMUNODEFICIENCY 37, GREENBERG SKELETAL DYSPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, TUMOR PREDISPOSITION SYNDROME, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, PULMONARY VENOOCCLUSIVE DISEASE 2, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ANGIOEDEMA, HEREDITARY, TYPE III, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, METATROPIC DYSPLASIA, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, SADDAN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PNEUMOTHORAX, PRIMARY SPONTANEOUS, OSTEOGENESIS IMPERFECTA, TYPE III, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, CENTRONUCLEAR MYOPATHY 5, FILS SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, ?IMMUNODEFICIENCY 13, COMBINED SAP DEFICIENCY, BEARE-STEVENSON CUTIS GYRATA SYNDROME, 3-M SYNDROME 1, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, METHYLMALONIC ACIDURIA CBLB TYPE, IMMUNODEFICIENCY 8, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, CORNELIA DE LANGE SYNDROME 1, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, FIBROCHONDROGENESIS 2, OPITZ-KAVEGGIA SYNDROME, SENGERS SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, MCKUSICK-KAUFMAN SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MYOPATHY, MYOFIBRILLAR, 2, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, RENAL ADYSPLASIA, CUTIS LAXA, AD, PALLISTER-HALL SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, APERT SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, IMMUNODEFICIENCY 21, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CEREBROCOSTOMANDIBULAR SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, INTERSTITIAL LUNG AND LIVER DISEASE, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, CODAS SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, BIRT-HOGG-DUBE SYNDROME, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, 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, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, URBACH-WIETHE DISEASE, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, OSTEOGLOPHONIC DYSPLASIA, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, SED CONGENITA, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, ?MICROPHTHALMIA, SYNDROMIC 1, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), JOUBERT SYNDROME 8, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ENCEPHALOPATHY, NEONATAL SEVERE, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, CARDIOMYOPATHY, HYPERTROPHIC, 17, PEELING SKIN SYNDROME 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, 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, OMENN SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, SPINAL MUSCULAR ATROPHY-1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, KABUKI SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 3, SIALURIA, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C

TSC2, EDNRA, LBR, CIITA, COL3A1, RPL5, FTL, UBA1, B2M, ENG, RANBP2, ITGA3, TERT, AGK, NCF4, POR, CYB5R3, CREBBP, DYNC2H1, PTEN, FGFR3, SIK1, ERBB3, MEGF10, IRF5, CD79A, DAG1, TAF6, PIK3CD, IFNG, AIFM1, CBL, CCND1, JAK2, SUCLA2, NKX2-1, MKKS, HSPD1, ABCD4, TNNT2, TP63, TYK2, CAV3, BANF1, DDR2, PRPS1, SERPINC1, SMAD4, CEP290, TPM2, LRP5, IARS2, CTSD, NARS2, AKT1, INPPL1, BLNK, DNAH14, UNC119, GLI3, DNAH1, GNE, PEX5, IL1RN, SCGB1A1, POLA1, ASNS, HABP2, LAMA2, BCL10, DICER1, MT-CO2, PCCA, SCARF2, BDNF, KAT6A, POMK, LRP2, SARS2, EXOC8, TAP2, MMAA, NDUFS2, DNM2, TREX1, LRP4, NCF1, NAA10, MFN2, COL1A2, PCCB, SSR4, ASCC1, MCCC2, REN, MYH7, WT1, BAG3, MMAB, NEK8, DES, BMPER, CDT1, NBN, IKBKAP, CUL7, SF3B4, SOX9, TGFB2, SERPINA1, ADCY6, NOTCH1, MYCN, CORO1A, FGFR1, ECM1, EGR2, CFL2, SGCG, EXOSC8, MYOM1, RBM10, GDNF, ACTA2, STAT3, SNAP25, ORC4, ALPL, ITGA8, DNAH8, F13A1, SMAD9, SNIP1, GMPPB, NFKB2, ALOX5, BMP2, ASCL1, NAGLU, ETFA, LIPA, IKBKB, CASP8, KCNQ2, ERBB4, NME8, TUBB4A, NDUFV1, DDX41, CYBB, SLC12A6, TBCK, JAGN1, PRKCSH, TGFB1, SOST, PIP5K1C, KMT2D, CARD11, TSC1, KCNJ8, PLG, BLM, FCGR2B, CRYAB, PHOX2B, KIF1BP, ARL13B, ADA, HSPG2, SKI, GPD1L, F2, DNAH11, ADRB2, IFIH1, SQSTM1, PEX6, EFTUD2, CAV1, NDUFA1, AGT, IGKC, GNAI3, LEP, CDK5, DNAH5, EIF4A3, IGHMBP2, STK11, IL10, SALL4, FBP1, LTBP4, SPAG1, TBK1, PRKAG2, COL2A1, BAP1, NUBPL, ACTA1, VRK1, GRIP1, PLEC, DSP, SCNN1G, EGFR, CDKL5, DCLRE1C, TNF, GATA2, SCNN1A, EDA, GFPT1, PROC, NFKBIA, TMEM173, SPEG, SLC22A4, WAS, COL11A2, KCNA5, YARS2, DKC1, CDSN, PEX1, AGTR1, STAT1, CNTN1, VHL, BCS1L, RAPSN, LTBP2, PSAP, FLNB, FHL1, ATP5A1, DCTN1, DNA2, MCCC1, TTN, ACADSB, JPH2, TRPV4, TK2, NRAS, ABCA3, JAK3, AP3B1, FGF10, ACVR1, NEK1, TCF4, POLE, IL13, ATM, NDUFA10, SUCLG1, GNAL, F12, HRAS, POLG, OCLN, ZAP70, TINF2, TUFM, HLCS, COL1A1, PIGT, TAP1, GLB1, TBX3, RNASEH1, IRF7, COL5A1, EDN1, ELN, BTK, IL2RA, COL13A1, KIF7, CNTNAP1, PTCH1, ACE, FBLN5, FLCN, CPOX, RYR1, TARDBP, CDKN1B, COPA, LONP1, AARS2, AGRN, HLA-DRB1, OFD1, NLRP1, PTPRC, PCK1, BMPR2, RET, GJA1, CCL11, CSF2RB, INPP5E, SNRPB, RPS28, MECP2, CASR, DMD, TRIM2, MUC7, EIF2AK4, KRAS, PRKDC, NDUFS1, MRPL3, CFTR, MED12, SEC63, ATP1A3, MCM4, ITCH, MUSK, ACVRL1, RUNX2, SELP, LCK, GLE1, FLNA, BIN1, FLNC, SCN5A, NFKB1, ORC1, CD19, FGFR2, MARS, GLA, GLUL, PDGFRA, RTEL1, FBN1, GPC3, PNP, RARS2, DNMT3B, NHP2, MYH11, CR2, SHH, PIK3R1

HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, GLUTAMINE DEFICIENCY, CONGENITAL, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SINGLETON-MERTEN SYNDROME 1, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, BLOOM SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, MELNICK-NEEDLES SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), PULMONARY VENOOCCLUSIVE DISEASE 1, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, DYSKERATOSIS CONGENITA, X-LINKED, MEIER-GORLIN SYNDROME 1, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AURICULOCONDYLAR SYNDROME 3, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, FILS SYNDROME, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, ?IMMUNODEFICIENCY 13, HERMANSKY-PUDLAK SYNDROME 2, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, NON-IMMUNE HYDROPS FETALIS, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ATAXIA-TELANGIECTASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PRIMARY PULMONARY HYPERTENSION, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), WISKOTT-ALDRICH SYNDROME, DYSTONIA 25, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, CODAS SYNDROME, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, POLYCYSTIC LIVER DISEASE, PLEUROPULMONARY BLASTOMA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYHRE SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, KARTAGENER SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, SPINAL MUSCULAR ATROPHY-1, PALLISTER-HALL SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CEROID LIPOFUSCINOSIS, NEURONAL, 10, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

TSC2, CAV1, DNAH11, LMNA, ADRB2, MFN2, PIGT, CIITA, PEX6, RPL5, AGT, GNAI3, CDK5, DNAH14, DNAH5, EDN1, GJA1, EIF4A3, MYH7, KIF7, DNM2, CDT1, DNAI1, DNAI2, CREBBP, DYNC2H1, PTEN, ACTA1, IFIH1, GRIP1, ACVR1, KRAS, CBL, IRF5, SQSTM1, NOTCH1, CPOX, TNF, HLA-DRB1, TAF6, COPA, JAK2, EXOSC8, MEGF10, LONP1, CCND1, IFNG, TPM2, TAP1, SSR4, HSPD1, EFTUD2, ABCD4, ACTA2, TNNT2, WAS, SNAP25, BMPR2, ALPL, DKC1, REN, CCL11, PEX1, DNAH8, SMAD4, STAT1, GMPPB, CASR, CTSD, SNRPB, BMP2, AKT1, TAPBP, PRKDC, ASCL1, CFTR, SEC63, ATP1A3, DCTN1, DNA2, MCM4, DNAH1, PEX5, B2M, TUBB4A, SELP, POLA1, DDX41, FLNA, IGHMBP2, JAGN1, PRKCSH, ABCA3, LAMA2, ATM, GNAL, AP3B1, TGFB1, DICER1, NFKB1, STAT3, ORC1, POLE, RANBP2, BLM, TINF2, CDKN1B, GLUL, RTEL1, ATP5A1, UNC119, HRAS, EGFR, DNMT3B, NHP2, MYH11, EXOC8, NDUFS2, TAP2, TUFM, PIK3R1

FUCOSIDOSIS, NON-IMMUNE HYDROPS FETALIS, MUCOPOLYSACCHARIDOSIS IH/S, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, NESTOR-GUILLERMO PROGERIA SYNDROME, GLYCOGEN STORAGE DISEASE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, RENAL TUBULAR DYSGENESIS, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUCOPOLYSACCHARIDOSIS IS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MUCOPOLYSACCHARIDOSIS IH, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, GAUCHER DISEASE, TYPE II, SIALURIA, GAUCHER DISEASE, TYPE I

NCF1, BANF1, CAV1, FUCA1, TGFB1, NOTCH1, GLB1, F2, GUSB, TAF6, AGT, MOGS, HEXA, IL13, MRPL3, NAGLU, GBA, EGR2, GLA, NEU1, EGFR, GNE, HSPG2, TNF, IDUA, GAA

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, KAPPA LIGHT CHAIN DEFICIENCY, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, {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, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, TUBEROUS SCLEROSIS 2, IMMUNODEFICIENCY 36, RUBINSTEIN-TAYBI SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, IMMUNODEFICIENCY 14, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, IMMUNODEFICIENCY 35, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYHRE SYNDROME, ?IMMUNODEFICIENCY 39, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, URBACH-WIETHE DISEASE, PULMONARY VENOOCCLUSIVE DISEASE 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, PRIMARY PULMONARY HYPERTENSION, WISKOTT-ALDRICH SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, 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, C1R/C1S DEFICIENCY, COMBINED, 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, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, KEUTEL SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], APERT SYNDROME, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, AGAMMAGLOBULINEMIA, X-LINKED 1, SECKEL SYNDROME 9, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, {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}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY 43, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PROTEUS SYNDROME, SOMATIC

ACTA1, CSF2RB, TGFB2, CBL, KRAS, CCL11, TRAIP, SOX9, CASP8, MGP, SERPINA1, IL4R, IL10, IRF5, BMPR2, SQSTM1, TGFB1, ATM, STAT1, FGFR2, LIFR, CAV1, CASR, AGT, FOXF1, IL21, NFKB1, ACVR1, EDA, LEP, PIK3CD, IL1RN, AKT1, BMP2, EGR2, TPI1, SMAD4, PRKDC, C1R, B2M, CCND1, ENG, WAS, CDKN1B, IL21R, EGFR, CRYAB, EPOR, TBX21, BCL10, IL17RA, GJA1, NFKBIA, F2, HSPD1, HRAS, IRF7, ITCH, SCGB3A2, IFNG, PTEN, F13A1, BDNF, CREBBP, BTK, HSPG2, TNF, ECM1, SHH, TYK2, IL13, JAK2, STAT3, RUNX2, IGKC, PIK3R1

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ATAXIA-TELANGIECTASIA, COMMON VARIABLE IMMUNODEFICIENCY 1, PRIMARY PULMONARY HYPERTENSION, KAPPA LIGHT CHAIN DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), OSTEOGENESIS IMPERFECTA, TYPE II, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, AGAMMAGLOBULINEMIA 4, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, RIGHT ATRIAL ISOMERISM, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, RUBINSTEIN-TAYBI SYNDROME, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PULMONARY VENOOCCLUSIVE DISEASE 1, COFFIN-SIRIS SYNDROME 1, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, C1R/C1S DEFICIENCY, COMBINED, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, EHLERS-DANLOS SYNDROME, TYPE IV, RHEUMATOID ARTHRITIS, AGAMMAGLOBULINEMIA 3, {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, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, PALLISTER-HALL SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, KEUTEL SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, ?MYASTHENIC SYNDROME, CONGENITAL, 17, AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, APLASIA OF LACRIMAL AND SALIVARY GLANDS, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, {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 43, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, FRONTOMETAPHYSEAL DYSPLASIA, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, IMMUNODEFICIENCY 36, PROTEUS SYNDROME, SOMATIC

TGFB2, SMAD4, LRP4, NFKB2, CCL11, B2M, IL17RA, MGP, SERPINA1, TBK1, COL1A1, TNF, CD79A, COL3A1, ATM, RPL5, IRF7, FLNA, CASR, AGT, TGFB1, IGKC, EDNRA, STAT3, LEP, COL1A2, PLG, F2, AKT1, BMP2, JAK2, TPI1, BMPR2, IL10, CREBBP, SMARCE1, CCND1, SELP, CDKN1B, IL21R, STAT1, CASP8, C1R, TBX21, BLNK, GATA2, NFKBIA, GLI3, EDN1, GDF1, EGFR, BMPER, ARSB, IFNG, PTEN, BDNF, HAMP, HSPG2, FGF10, ACVR1, SHH, IL13, RUNX2, IL21, PIK3R1

MUCOPOLYSACCHARIDOSIS TYPE IIID, NON-IMMUNE HYDROPS FETALIS, MUCOPOLYSACCHARIDOSIS II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MUCOPOLYSACCHARIDOSIS, MPS-III-A, MUCOPOLYSACCHARIDOSIS IVA, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY)

ARSB, NEU1, GNS, EGFR, SGSH, IDS, GALNS

HYPER-IGE RECURRENT INFECTION SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, PULMONARY VENOOCCLUSIVE DISEASE 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, AMYOTROPHIC LATERAL SCLEROSIS 19, DYSAUTONOMIA, FAMILIAL, 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, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DYSTONIA 27, 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, PRIMARY PULMONARY HYPERTENSION, PSEUDOHYPOALDOSTERONISM, TYPE I, RHEUMATOID ARTHRITIS, KAPPA LIGHT CHAIN DEFICIENCY, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, COMBINED SAP DEFICIENCY, VAN DEN ENDE-GUPTA SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NON-IMMUNE HYDROPS FETALIS, OSTEOGLOPHONIC DYSPLASIA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, TIMOTHY SYNDROME, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ATAXIA-TELANGIECTASIA, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, IMMUNODEFICIENCY 14, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, SED CONGENITA, KNIEST DYSPLASIA, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, KRABBE DISEASE, ATYPICAL, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AGAMMAGLOBULINEMIA 6, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, 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, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, AGAMMAGLOBULINEMIA 3, 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, NETHERTON SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 12, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

F2, FGFR1, PROS1, ADRB2, COL1A2, RPL5, FTL, AGT, IGKC, CDK5, EDN1, BTK, B2M, STK11, COL6A3, SPINK1, SCARF2, COL1A1, DNM2, BMPER, SERPING1, CREBBP, CD79B, IKBKAP, PTEN, ACTA1, IL1RN, ERBB3, IL10, SCNN1G, SERPINA1, CD79A, NOTCH1, TNF, EDNRA, PRKAG2, LEP, PIK3CD, NFKBIA, CBL, COL2A1, CCND1, MYOM1, STAT3, BMPR2, FLNC, REN, IL2RA, SMAD4, STAT1, CASR, VHL, AKT1, TPI1, MRPL3, CFTR, LRP2, ATP5A1, CASP8, SKI, ITCH, ERBB4, F13A1, SPINK5, SCGB1A1, SERPINC1, FLNA, PSAP, TGFB1, ATM, PIP5K1C, NFKB1, CACNA1C, CD19, PLG, SERPINH1, CDKN1B, GPC3, HRAS, EGFR, SELP, HSPG2, PIK3R1, TINF2, KIF1BP, SHH

IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, PROPIONICACIDEMIA, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ?IMMUNODEFICIENCY 37, BEARE-STEVENSON CUTIS GYRATA SYNDROME, GLUTAMINE DEFICIENCY, CONGENITAL, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, PEUTZ-JEGHERS SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, THANATOPHORIC DYSPLASIA, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, NIJMEGEN BREAKAGE SYNDROME, ATELOSTEOGENESIS, TYPE I, SELECTIVE T-CELL DEFECT, TARP SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, BLOOM SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, INTERSTITIAL LUNG AND LIVER DISEASE, IMMUNODEFICIENCY 14, PULMONARY VENOOCCLUSIVE DISEASE 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, TRIMETHYLAMINURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, 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, DYSKERATOSIS CONGENITA, X-LINKED, METATROPIC DYSPLASIA, KRABBE DISEASE, ATYPICAL, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, AGAMMAGLOBULINEMIA, X-LINKED 1, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FRASER SYNDROME, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, AURICULOCONDYLAR SYNDROME 3, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, MEIER-GORLIN SYNDROME 1, SINGLETON-MERTEN SYNDROME 1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, IMMUNODEFICIENCY 43, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SADDAN, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 35, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, VLCAD DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, LARSEN SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, ?IMMUNODEFICIENCY 22, MEIER-GORLIN SYNDROME 2, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, CD8 DEFICIENCY, FAMILIAL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, CENTRONUCLEAR MYOPATHY 5, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, RENAL TUBULAR DYSGENESIS, FILS SYNDROME, JOUBERT SYNDROME 5, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PSEUDOHYPOALDOSTERONISM, TYPE I, PITT-HOPKINS SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, OTOPALATODIGITAL SYNDROME, TYPE II, TUBEROUS SCLEROSIS 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, KAPPA LIGHT CHAIN DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), {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, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, OPSISMODYSPLASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, COMBINED SAP DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, MYOPATHY, MYOFIBRILLAR, 5, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, IMMUNODEFICIENCY 36, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, NESTOR-GUILLERMO PROGERIA SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), ARTS SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, ATAXIA-TELANGIECTASIA, TRIFUNCTIONAL PROTEIN DEFICIENCY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, LEUKODYSTROPHY, HYPOMYELINATING, 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, NON-IMMUNE HYDROPS FETALIS, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PRIMARY PULMONARY HYPERTENSION, IMMUNODEFICIENCY 8, AURICULOCONDYLAR SYNDROME 1, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), CILIARY DYSKINESIA, PRIMARY, 6, MYHRE SYNDROME, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, DYSTONIA 25, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, FRENCH-CANADIAN TYPE, JOUBERT SYNDROME 8, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, SENGERS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, OPITZ-KAVEGGIA SYNDROME, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CILIARY DYSKINESIA, PRIMARY, 28, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, TUBEROUS SCLEROSIS-1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MEIER-GORLIN SYNDROME 4, MYASTHENIC SYNDROME, CONGENITAL, 16, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SPINAL MUSCULAR ATROPHY-1, IMMUNODEFICIENCY 11, ?IMMUNODEFICIENCY 13, AMYOTROPHIC LATERAL SCLEROSIS 21, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, POLYCYSTIC LIVER DISEASE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, MCKUSICK-KAUFMAN SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ASPARAGINE SYNTHETASE DEFICIENCY, NEU-LAXOVA SYNDROME 1, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, PLEUROPULMONARY BLASTOMA, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, RESTRICTIVE DERMOPATHY, LETHAL, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MYOPATHY, MYOFIBRILLAR, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, D-2-HYDROXYGLUTARIC ACIDURIA, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, RENAL ADYSPLASIA, KARTAGENER SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SIALURIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, AGAMMAGLOBULINEMIA 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, OMENN SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PALLISTER-HALL SYNDROME, TUMOR PREDISPOSITION SYNDROME, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, DYSAUTONOMIA, FAMILIAL, APERT SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, 2-METHYLBUTYRYLGLYCINURIA, {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, CODAS SYNDROME, KABUKI SYNDROME 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PULMONARY VENOOCCLUSIVE DISEASE 2, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, PROTEUS SYNDROME, SOMATIC

TSC2, HLCS, AGK, CAV1, TREX1, EDNRA, DNAH11, CDK5, COQ9, NCF1, MECP2, SDHD, NAA10, ADRB2, NEK1, MFN2, LBR, CD8A, CIITA, PEX6, RPL5, IRF7, FTL, F2, NDUFA1, RNASEH1, PCCB, GNAI3, TCF4, AGTR1, MARS, DKC1, RANBP2, DNAH14, DNAH5, KCNJ8, EDN1, BTK, MCCC2, REN, TK2, IGHMBP2, STK11, CFL2, IL10, IL2RA, EGR2, WT1, ITCH, TGFB2, FBP1, MMAB, DNM2, NFKBIA, CDT1, NBN, POLE, NCF4, PIP5K1C, SGCG, SPAG1, ACADSB, POR, HADHA, CYB5R3, ALPL, NEK8, INPP5E, ADCY6, PRKAG2, IKBKAP, IL2RG, DNMT3B, ETFDH, CTSD, SF3B4, MMAA, NUBPL, ACTA1, AIFM1, VRK1, DNAJB6, SCN4A, MYOM1, FGFR3, KRAS, NFKB2, ERBB3, CBL, SCNN1G, SQSTM1, EGFR, CDKL5, MYH7, TBK1, IRF5, VHL, LONP1, COL1A1, CD79A, PIGT, NOTCH1, PARN, DCLRE1C, DAG1, TNF, GATA2, HLA-DRB1, FGFR1, ACVRL1, SCNN1A, TAF6, LMNA, SNIP1, PIK3CD, CPOX, COPA, GFPT1, JAK2, EXOSC8, PLOD1, GJA1, MEGF10, SMARCE1, AARS2, CCND1, CRYAB, IFNG, TPM2, RBM10, TAP1, SUCLA2, NRAS, NKX2-1, NAGLU, PDGFRA, NCF2, NDUFS2, MKKS, HSPD1, DYNC2H1, TMEM173, EFTUD2, ABCD4, CASR, ACTA2, IFIH1, NLRP1, SPEG, SLC22A4, AGT, STAT3, POLA1, NDUFA10, SSR4, SNAP25, BIN1, PCK1, BMPR2, TUFM, CAV3, BANF1, UNC119, YARS2, SHH, DDR2, TNPO3, GLE1, BLNK, SMAD4, ATP5A1, MTHFR, RPS28, MYCN, SMAD9, CEP290, ECM1, SUCLG1, TSFM, GMPPB, GRIP1, IARS2, LEP, CNTN1, MATR3, SOX9, NARS2, BCS1L, ACVR1, RAPSN, BMP2, TRIM2, POMK, FLNA, GLUL, AKT1, CYBA, EIF2AK4, SIK1, TPI1, HADHB, PRKDC, FLNB, FMO3, MRPL3, UBA1, LRPPRC, WAS, ETFA, BAP1, SEC63, DMD, PHOX2B, LRP2, PHGDH, IGKC, DCTN1, CASP8, DNA2, ORC4, MED12, MCM4, DNAH1, TINF2, MCCC1, TTN, SARS2, KCNQ2, ORC1, GNE, KAT6A, ERBB4, TRPV4, MUSK, TNNT2, NME8, SDHA, EIF4A3, TUBB4A, RUNX2, NDUFS1, OCLN, NDUFV1, LCK, DDX41, ACE, ASNS, CORO1A, ZAP70, PSAP, SELP, B2M, CYBB, TBCK, INPPL1, ACADVL, JAGN1, TARDBP, ASCL1, PRKCSH, ABCA3, LAMA2, PEX1, SCN5A, JAK3, KMT2D, CFTR, AP3B1, TERT, TGFB1, ETFB, STAT1, NFKB1, TP63, MT-CO2, D2HGDH, PRPS1, CARD11, PLG, PCCA, KIF7, BLM, ATM, FGFR2, CREBBP, TYK2, CDKN1B, NEU1, GNAL, OFD1, RTEL1, BDNF, SNRPB, BCL10, DNAH8, FLNC, RET, PTEN, HRAS, COL1A2, POLG, RARS2, ARL13B, NHP2, MYH11, IKBKB, EXOC8, TSC1, PIK3R1, TAP2, ATP1A3, GPD1L, PEX5, SKI, DICER1

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, PRIMARY PULMONARY HYPERTENSION, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, HYPER-IGE RECURRENT INFECTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ACHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, OSTEOGENESIS IMPERFECTA, TYPE II, THANATOPHORIC DYSPLASIA, TYPE I, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, RIGHT ATRIAL ISOMERISM, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, URBACH-WIETHE DISEASE, PULMONARY VENOOCCLUSIVE DISEASE 1, RENAL ADYSPLASIA, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, RENAL TUBULAR DYSGENESIS, COFFIN-SIRIS SYNDROME 1, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, RHEUMATOID ARTHRITIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, 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, SADDAN, {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, TUBEROUS SCLEROSIS 2, APLASIA OF LACRIMAL AND SALIVARY GLANDS, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, ?RENAL HYPODYSPLASIA/APLASIA 2, LOEYS-DIETZ SYNDROME 4, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE III, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

ACTA1, SOX9, GPC3, TGFB2, FGFR1, GJA1, CCL11, ACE, COL1A1, SERPINA1, CREBBP, TNF, TGFB1, GDNF, NOTCH1, F2, AGT, IGKC, EDNRA, ACVR1, LEP, FGF20, PLG, AKT1, BMP2, IL13, AIFM1, IL10, SMARCE1, CCND1, IFNG, PDGFRA, BDNF, RET, CHAT, FOXF1, EDN1, HRAS, GDF1, EGFR, BMPER, PTEN, FGFR3, HAMP, HSPG2, FGF10, ECM1, BMPR2, STAT3, RUNX2, SELP, SHH

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, BASAL CELL NEVUS SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, NEMALINE MYOPATHY 9, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, SINGLETON-MERTEN SYNDROME 1, GLUTAMINE DEFICIENCY, CONGENITAL, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEUTZ-JEGHERS SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, ATELOSTEOGENESIS, TYPE I, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, 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, BLOOM SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, MYHRE SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, DYSTONIA 6, TORSION, MEIER-GORLIN SYNDROME 1, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AMYOTROPHIC LATERAL SCLEROSIS 19, MYOPATHY, MYOFIBRILLAR, 2, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, DYSKERATOSIS CONGENITA, X-LINKED, METATROPIC DYSPLASIA, HERMANSKY-PUDLAK SYNDROME 1, HYPOPHOSPHATASIA, INFANTILE, HEMOCHROMATOSIS TYPE 1, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FAMILIAL MEDITERRANEAN FEVER, AR, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, TRICHORHINOPHALANGEAL SYNDROME, TYPE I, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DUANE-RADIAL RAY SYNDROME, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, PITT-HOPKINS SYNDROME, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 36, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, NATIVE AMERICAN MYOPATHY, IMMUNODEFICIENCY 35, INSOMNIA, FATAL FAMILIAL, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CUTIS LAXA, AD, LARSEN SYNDROME, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, ?IMMUNODEFICIENCY 22, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, CD8 DEFICIENCY, FAMILIAL, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, DIAPHANOSPONDYLODYSOSTOSIS, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, FILS SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, TUBEROUS SCLEROSIS 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, KAPPA LIGHT CHAIN DEFICIENCY, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, PRADER-WILLI SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ACROMELIC FRONTONASAL DYSOSTOSIS, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, HERMANSKY-PUDLAK SYNDROME 2, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 5, OMENN SYNDROME, SMITH-LEMLI-OPITZ SYNDROME, COMMON VARIABLE IMMUNODEFICIENCY 1, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, TENORIO SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, IMMUNODEFICIENCY 14, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DUCHENNE MUSCULAR DYSTROPHY, MICROPHTHALMIA, SYNDROMIC 12, TIMOTHY SYNDROME, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, AMYOTROPHIC LATERAL SCLEROSIS 17, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, CEREBROTENDINOUS XANTHOMATOSIS, ATAXIA-TELANGIECTASIA, TRIFUNCTIONAL PROTEIN DEFICIENCY, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, CEREBROCOSTOMANDIBULAR SYNDROME, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PRIMARY PULMONARY HYPERTENSION, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIC, AGAMMAGLOBULINEMIA 1, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, SICKLE CELL ANEMIA, ?OSTEOGENESIS IMPERFECTA, TYPE X, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, WISKOTT-ALDRICH SYNDROME, GENITOPATELLAR SYNDROME, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, HYPERPARATHYROIDISM, NEONATAL, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CEREBELLOFACIODENTAL SYNDROME, SECKEL SYNDROME 9, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, OPITZ GBBB SYNDROME, TYPE I, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, ENCEPHALOPATHY, NEONATAL SEVERE, FANCONI ANEMIA, COMPLEMENTATION GROUP L, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, AMYOTROPHIC LATERAL SCLEROSIS 21, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MCKUSICK-KAUFMAN SYNDROME, FAMILIAL MEDITERRANEAN FEVER, AD, PLEUROPULMONARY BLASTOMA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, RESTRICTIVE DERMOPATHY, LETHAL, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, TARP SYNDROME, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OPITZ-KAVEGGIA SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VI, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DYSAUTONOMIA, FAMILIAL, AGAMMAGLOBULINEMIA 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, SPINAL MUSCULAR ATROPHY-1, PALLISTER-HALL SYNDROME, TUMOR PREDISPOSITION SYNDROME, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, GELEOPHYSIC DYSPLASIA 1, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, RIDDLE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, KABUKI SYNDROME 1, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 12, PEELING SKIN SYNDROME 1, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HETEROTAXY, VISCERAL, 7, AUTOSOMAL, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

TSC2, ADAMTS13, CAV1, HBB, PROS1, TRAIP, PRSS1, ADRB2, SDHD, MT-CO1, ORC1, IFIH1, LBR, CYP27A1, CIITA, GLI3, COL1A2, RPL5, IRF7, FTL, STAT1, AGT, IGKC, THAP1, SCO1, CDK5, DKC1, UBA1, EDN1, REN, BTK, PAX8, IGHMBP2, STK11, CFL2, FBN1, SELP, EGR2, IGHM, WT1, SIX3, FBP1, COL1A1, DNM2, NFKBIA, NDUFV2, EFEMP2, BMPER, POR, MEFV, AGRN, CYB5R3, CD8A, TBK1, IL13, IKBKAP, DNMT3B, BAP1, CTSD, SF3B4, MUSK, RARB, ACTA1, ACE, RAG1, GRIP1, IL1RN, FBLN5, NFKB2, ERBB3, CBL, ELN, CARD11, SERPINA1, MYH7, CREBBP, IRF5, CD79A, PIGT, IFT172, MYCN, DAG1, TNF, GATA2, FGFR1, SQSTM1, MID1, TAF6, MECP2, PIK3CD, CPOX, COPA, ALAD, GFPT1, IFNG, PLOD1, DSP, SMARCE1, AARS2, CCND1, JAK2, RBM10, ACP5, KAT6B, SOX9, NDUFS2, MKKS, HSPD1, SOX18, TMEM173, EFTUD2, ACTA2, TNNT2, MFN2, AICDA, RAG2, KLHL41, ADAMTSL2, KMT2A, DTNBP1, NFU1, KAT6A, NDUFS3, PCK1, BMPR2, KCNA5, PTCH1, CAV3, GPC3, ALPL, SHH, GJA1, IL2RA, SERPINC1, SCO2, SERPINH1, SMAD4, AGTR1, DNAJB6, SMAD9, GDNF, SNIP1, HLA-DRB1, TGFB2, CASR, LEP, CNTN1, STAC3, MATR3, VHL, BMP2, SNRPB, ACVR1, RAPSN, ALOX5, TRIM2, NDN, NDUFS8, AKT1, TPI1, HADHB, PRKDC, ADAMTS2, FHL1, ASCL1, LRPPRC, WAS, MED12, LRP2, ATP5A1, TUFM, DCTN1, CASP8, CHMP2B, CDSN, MUC7, MCM4, ERBB4, TINF2, ITCH, SARS2, PTEN, TRPV4, HAMP, TRIP4, LYRM4, RUNX2, NDUFS1, OCLN, POLA1, LCK, DDX41, FLNA, BIN1, B2M, IL17RA, COX14, TARDBP, DHCR7, PRNP, TGFB1, PRKCSH, ATM, LMNA, KMT2D, CFTR, BRF1, FGF10, DICER1, DMD, NFKB1, STAT3, MT-CO2, DES, CACNA1C, MMP21, TCF4, TRPS1, NOTCH1, PLG, POLE, RANBP2, BLM, SCN5A, DNA2, TYK2, SALL4, CDKN1B, PHF11, GLUL, CRYAB, SNRPN, BDNF, F2, FLNC, ARX, ICOS, FLNB, HRAS, FANCL, EGFR, AP3B1, RNF125, ADA, EPOR, MYH11, RNF168, HSPG2, EXOC8, PEX7, PIK3R1, ZSWIM6, CA5A, KIF1BP, PEX5, SKI