RESPIRATORY

NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LARSEN SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, ATELOSTEOGENESIS, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, DUCHENNE MUSCULAR DYSTROPHY, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, MYOPATHY, MYOFIBRILLAR, 2, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ?MICROPHTHALMIA, SYNDROMIC 1, OPSISMODYSPLASIA, MYOPATHY, MYOFIBRILLAR, 5, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, IMMUNODEFICIENCY 11, PROTEUS SYNDROME, SOMATIC

ACTA1, FLNB, CBL, DAG1, CARD11, TPM3, DMD, MYH11, MYH7, CRYAB, NAA10, DNM2, FLNC, AKT1, SGCG, INPPL1

PSEUDOHYPOALDOSTERONISM, TYPE I, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, GLUTAMINE DEFICIENCY, CONGENITAL, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, NON-IMMUNE HYDROPS FETALIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, ?OSTEOGENESIS IMPERFECTA, TYPE X, MYHRE SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, METATROPIC DYSPLASIA, MYOPATHY, TUBULAR AGGREGATE, 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, NIEMANN-PICK DISEASE, TYPE A, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, SADDAN, INSOMNIA, FATAL FAMILIAL, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, PRIMARY PULMONARY HYPERTENSION, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, CUTIS LAXA, AD, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, RUBINSTEIN-TAYBI SYNDROME, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, IMMUNODEFICIENCY 19, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, AURICULOCONDYLAR SYNDROME 2, RHEUMATOID ARTHRITIS, 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, {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, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SMITH-LEMLI-OPITZ SYNDROME, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, IMMUNODEFICIENCY 36, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, TIMOTHY SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, ATAXIA-TELANGIECTASIA, NIEMANN-PICK DISEASE, TYPE C2, TRIFUNCTIONAL PROTEIN DEFICIENCY, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, OSTEOGENESIS IMPERFECTA, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, WISKOTT-ALDRICH SYNDROME, ASPARTYLGLUCOSAMINURIA, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ?MYASTHENIC SYNDROME, CONGENITAL, 18, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, GLYCOGEN STORAGE DISEASE IC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CHILD SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, COPROPORPHYRIA, HARDEROPORPHYRIA, CODAS SYNDROME, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, POLYCYSTIC LIVER DISEASE, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, RENAL ADYSPLASIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LOEYS-DIETZ SYNDROME 4, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, NETHERTON SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PROTEUS SYNDROME, SOMATIC

TSC2, RPL5, CAV1, CD3D, NCF1, ADRB2, CD3E, LBR, SQSTM1, CIITA, COL1A2, TAP1, FTL, STAT1, AGT, IRF7, LEP, AGTR1, RANBP2, NSDHL, KCNH2, GJA1, G6PC3, PIGC, EGR2, SLC37A4, COL1A1, DES, CDT1, POR, AGRN, CYB5R3, CREBBP, ECM1, CNTNAP1, PEX5, NUBPL, LRBA, GRIP1, TRPV4, KRAS, CBL, ELN, SERPINA1, TBK1, IRF5, PGM1, NOTCH1, GLUL, PIEZO1, DAG1, TNF, RYR1, SCNN1A, MOGS, COPA, IFNG, AIFM1, DSP, LONP1, CCND1, JAK2, EBP, ELOVL4, MPC1, F2, HSPD1, NDUFA2, TMEM173, ALPL, ACVR1, KMT2A, PTPRC, SNAP25, IGKC, BMPR2, KCNA5, TUFM, CAV3, STIM1, ARSB, ITGA8, TNPO3, SSR4, SMAD4, CDK5, SMPD1, HLA-DRB1, TGFB2, CASR, CTSD, VHL, ALOX5, SNRPB, BMP2, FLNA, AKT1, PLEC, TAPBP, MRPL3, CFTR, WAS, SEC63, EGFR, ATP1A3, IKBKB, HLA-G, EDN1, DPM2, KCNQ2, PTEN, FGFR3, SPINK5, SCGB1A1, NPC2, BTK, STAT3, RUNX2, LCK, DDX41, LRP5, BIN1, B2M, CYBB, DPM1, DHCR7, ASCL1, PRNP, TGFB1, PRKCSH, SCN5A, PIP5K1C, NAGLU, AP3B1, IER3IP1, DMD, TP63, MT-CO2, CACNA1C, PLG, SERPINH1, DST, NDUFB9, ATM, FKTN, FKRP, PIK3R1, CDKN1B, CPOX, BDNF, ATP5A1, RET, AGA, PTH1R, SYNE2, HRAS, LRP2, ITGA7, MPDU1, SELP, HSPG2, NEB, PLCB4, MEGF10, HFE, HADHB, SHH

BASAL CELL NEVUS SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, FRASER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OTOPALATODIGITAL SYNDROME, TYPE II, PLEUROPULMONARY BLASTOMA, IMMUNODEFICIENCY 8, MUSCULAR DYSTROPHY, CONGENITAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HERMANSKY-PUDLAK SYNDROME 1, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, RENAL ADYSPLASIA, MELNICK-NEEDLES SYNDROME, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, RESTRICTIVE DERMOPATHY, LETHAL, METATROPIC DYSPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, WISKOTT-ALDRICH SYNDROME, MYOPATHY, TUBULAR AGGREGATE, 1, PITT-HOPKINS-LIKE SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, SPINAL MUSCULAR ATROPHY-1, ENCEPHALOPATHY, NEONATAL SEVERE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, RENAL TUBULAR DYSGENESIS, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, IMMUNODEFICIENCY 36, HERMANSKY-PUDLAK SYNDROME 7, PROTEUS SYNDROME, SOMATIC

PTCH1, TSC2, STIM1, GRIP1, GJA1, LMNA, CDKL5, CDK5, MECP2, NRXN1, CCND1, AGT, CORO1A, FGFR1, NEB, USP9X, TRIM2, FLNA, AKT1, ITGA8, IGHMBP2, SMARCE1, DTNBP1, WAS, CDKN1B, ITGA3, DCTN1, SNAP25, HRAS, EGFR, TRPV4, ADCY6, EXOC8, TSC1, PAM16, RYR1, PIK3R1, DICER1

BASAL CELL NEVUS SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, OSTEOGLOPHONIC DYSPLASIA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, FRASER SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OTOPALATODIGITAL SYNDROME, TYPE II, PLEUROPULMONARY BLASTOMA, IMMUNODEFICIENCY 8, MUSCULAR DYSTROPHY, CONGENITAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HERMANSKY-PUDLAK SYNDROME 1, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VI, FRONTOMETAPHYSEAL DYSPLASIA, RENAL ADYSPLASIA, MELNICK-NEEDLES SYNDROME, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, RESTRICTIVE DERMOPATHY, LETHAL, METATROPIC DYSPLASIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, WISKOTT-ALDRICH SYNDROME, MYOPATHY, TUBULAR AGGREGATE, 1, PITT-HOPKINS-LIKE SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 18, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, SPINAL MUSCULAR ATROPHY-1, ENCEPHALOPATHY, NEONATAL SEVERE, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, TUBEROUS SCLEROSIS-1, RENAL TUBULAR DYSGENESIS, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, IMMUNODEFICIENCY 36, HERMANSKY-PUDLAK SYNDROME 7, PROTEUS SYNDROME, SOMATIC

PTCH1, TSC2, STIM1, GRIP1, GJA1, LMNA, CDKL5, CDK5, MECP2, NRXN1, CCND1, AGT, CORO1A, FGFR1, NEB, USP9X, TRIM2, FLNA, AKT1, ITGA8, IGHMBP2, SMARCE1, DTNBP1, WAS, CDKN1B, ITGA3, DCTN1, SNAP25, HRAS, EGFR, TRPV4, ADCY6, EXOC8, TSC1, PAM16, RYR1, PIK3R1, DICER1

BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, IMMUNODEFICIENCY 15, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, HYPER-IGE RECURRENT INFECTION SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ANGIOEDEMA, HEREDITARY, TYPE III, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, ?OSTEOGENESIS IMPERFECTA, TYPE X, MYHRE SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, AMYOTROPHIC LATERAL SCLEROSIS 19, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, MUCOPOLYSACCHARIDOSIS IS, MYASTHENIC SYNDROME, CONGENITAL, 19, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, CILIARY DYSKINESIA, PRIMARY, 6, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), COENZYME Q10 DEFICIENCY, PRIMARY, 7, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, PROPIONICACIDEMIA, APLASIA OF LACRIMAL AND SALIVARY GLANDS, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, ?IMMUNODEFICIENCY 22, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, GLUTAMINE DEFICIENCY, CONGENITAL, CEREBROTENDINOUS XANTHOMATOSIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, VLCAD DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DYSTONIA 27, MUCOPOLYSACCHARIDOSIS II, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, RENAL TUBULAR DYSGENESIS, PRIMARY PULMONARY HYPERTENSION, MYASTHENIC SYNDROME, CONGENITAL, 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, RHEUMATOID ARTHRITIS, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), ?TETRA-AMELIA SYNDROME, BETHLEM MYOPATHY 1, MUCOPOLYSACCHARIDOSIS IH, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, COMBINED SAP DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, EPILEPSY, PYRIDOXINE-DEPENDENT, MYOPATHY, MYOFIBRILLAR, 5, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, GAUCHER DISEASE, TYPE I, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, KAPPA LIGHT CHAIN DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY, CONGENITAL, TRIFUNCTIONAL PROTEIN DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, AGAMMAGLOBULINEMIA 2, CEREBROCOSTOMANDIBULAR SYNDROME, METHYLMALONIC ACIDURIA CBLB TYPE, ?MYOSCLEROSIS, CONGENITAL, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, SED CONGENITA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, MUCOPOLYSACCHARIDOSIS TYPE IIID, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, NIEMANN-PICK DISEASE, TYPE A, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, RESTRICTIVE DERMOPATHY, LETHAL, AGAMMAGLOBULINEMIA 1, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, MUCOPOLYSACCHARIDOSIS IH/S, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 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, KRABBE DISEASE, ATYPICAL, BIOTINIDASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AMYOTROPHIC LATERAL SCLEROSIS 17, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, FIBROCHONDROGENESIS 2, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, MUCOPOLYSACCHARIDOSIS, MPS-III-A, IMMUNODEFICIENCY, COMMON VARIABLE, 6, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, MYOPATHY, MYOFIBRILLAR, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, D-2-HYDROXYGLUTARIC ACIDURIA, EHLERS-DANLOS SYNDROME, TYPE IV, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, EHLERS-DANLOS SYNDROME, TYPE VI, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MEIER-GORLIN SYNDROME 1, AGAMMAGLOBULINEMIA 3, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, FARBER LIPOGRANULOMATOSIS, 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, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, 2-METHYLBUTYRYLGLYCINURIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, IMMUNODEFICIENCY 36, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CODAS SYNDROME, GAUCHER DISEASE, TYPE II, 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, MUCOPOLYSACCHARIDOSIS IVA, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

LMNA, NEU1, CAV1, HBB, PROS1, CDK5, PRSS1, COL1A1, ORC1, AGRN, CYP27A1, CIITA, COL3A1, TAP1, FTL, F2, GUSB, AGT, PCCB, MUC5B, LEP, AGTR1, COLQ, MCCC2, REN, TK2, PAX8, B2M, PLG, CBL, EGR2, IGHM, WT1, ARSB, NAGS, MMAB, DNM2, NFKBIA, SERPINH1, GALNS, COL13A1, HADHA, SERPING1, CREBBP, COL2A1, TRMT5, ETFDH, SF3B4, ERBB4, ACTA1, AIFM1, VRK1, TGFB2, F13A1, KRAS, GJA1, ERBB3, DSP, SERPINA1, COL6A2, IDS, NOTCH1, ALDH7A1, GLUL, DAG1, COL6A1, TNF, GNS, LYRM7, ASAH1, EDA, TAF6, BTD, COL1A2, CPOX, GFPT1, IFNG, PLOD1, IL10, COL11A2, LONP1, CCND1, JAK2, IGLL1, RPL5, SUCLA2, NKX2-1, CRYAB, SGSH, NDUFS2, HSPD1, CD81, FKBP14, ALPL, CASR, ACTA2, RYR1, ACADVL, TP63, TUFM, NDUFA10, SUFU, PAM16, NDUFS3, IRF7, BMPR2, COQ4, PTCH1, CAV3, FLNC, GLB1, HEXA, VHL, DDR2, IL2RA, ACE, SCO2, SMAD4, COL5A1, SDHD, SMPD1, SMAD9, MECP2, SUCLG1, HLA-DRB1, GMPPB, LRP5, IARS2, CTSD, SOX9, NARS2, ALOX5, PEX5, RAPSN, BMP2, SSR4, NDN, AKT1, INPPL1, NDUFS1, MRPL3, CFTR, ETFA, SEC63, LRP2, ATP5A1, IKBKB, IGKC, CHMP2B, GLI3, MUC7, MCCC1, SCGB3A2, NDUFA9, ACADSB, PTEN, ECHS1, MUSK, MMAA, SCGB1A1, NME8, IDUA, COL6A3, LYRM4, RUNX2, SELP, LCK, SERPINC1, FLNA, ZAP70, PSAP, JAGN1, PRKCSH, TGFB1, WNT3, COL5A2, NAGLU, AP3B1, FGF10, CD79A, ETFB, STAT1, STAT3, MT-CO2, D2HGDH, YARS2, PCCA, COX6B1, IL13, GBA, CDKN1B, GLA, CA5A, PDGFRA, SNRPN, BDNF, SNRPB, GPC3, F12, SYNE2, HRAS, EGFR, RARS2, WNT4, SARS2, ADA, EPOR, MYH11, PROC, HSPG2, PEX7, PIK3R1, TINF2, HFE, GATA2, SHH

PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, POLYCYSTIC LIVER DISEASE, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, TRIFUNCTIONAL PROTEIN DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, DONNAI-BARROW SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, PRIMARY PULMONARY HYPERTENSION, RESTRICTIVE DERMOPATHY, LETHAL, GREENBERG SKELETAL DYSPLASIA, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PULMONARY VENOOCCLUSIVE DISEASE 1, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, FANCONI ANEMIA, COMPLEMENTATION GROUP L, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, IMMUNODEFICIENCY 36

ACTA1, TUFM, SOX9, TREX1, PLEC, CAV3, SDHD, LBR, SDHA, LMNA, NAGLU, HADHB, ALOX5, TSC2, EDN1, KCNH2, NDUFB9, BMPR2, DSP, PLCG2, DNASE1, DST, SEC63, DNM2, SYNE2, HRAS, FANCL, LRP2, SCGB1A1, POLA1, CNTNAP1, RUNX2, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, NON-IMMUNE HYDROPS FETALIS, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE III, OTOPALATODIGITAL SYNDROME, TYPE II, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, OSTEOGENESIS IMPERFECTA, TYPE II, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 10, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DUCHENNE MUSCULAR DYSTROPHY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MELNICK-NEEDLES SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, PRIMARY PULMONARY HYPERTENSION, ?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, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ?MYASTHENIC SYNDROME, CONGENITAL, 17, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, RENAL TUBULAR DYSGENESIS, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC

KCNA5, CAV3, DOK7, KCNQ1, LRP4, ERBB3, COL1A1, TGFB1, SCN5A, F2, DAG1, AGT, DMD, CDK5, RAPSN, CHRNE, CHRNA1, FLNA, AKT1, GJA1, JAK2, BDNF, DES, EGFR, ITGA7, KCNQ2, MUSK

CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS, CILIARY DYSKINESIA, PRIMARY, 20

DNAH1, DNAH5, DNAI2, CCDC114, DNAH8

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, THANATOPHORIC DYSPLASIA, TYPE II, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, NON-IMMUNE HYDROPS FETALIS, THANATOPHORIC DYSPLASIA, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 10, ATELOSTEOGENESIS, TYPE I, SELECTIVE T-CELL DEFECT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, COACH SYNDROME, 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, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, ?OSTEOGENESIS IMPERFECTA, TYPE X, PULMONARY VENOOCCLUSIVE DISEASE 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AMYOTROPHIC LATERAL SCLEROSIS 19, OPITZ GBBB SYNDROME, TYPE II, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, METATROPIC DYSPLASIA, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, HERMANSKY-PUDLAK SYNDROME 1, AGAMMAGLOBULINEMIA, X-LINKED 1, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, 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, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, 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, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, BARDET-BIEDL SYNDROME 16, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, IMMUNODEFICIENCY 35, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ALSTROM SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, LARSEN 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, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CD8 DEFICIENCY, FAMILIAL, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, PRIMARY PULMONARY HYPERTENSION, JOUBERT SYNDROME 5, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, BEARE-STEVENSON CUTIS GYRATA SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, MARTSOLF SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, PITT-HOPKINS-LIKE SYNDROME 2, TUBEROUS SCLEROSIS 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, SADDAN, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, OPSISMODYSPLASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HERMANSKY-PUDLAK SYNDROME 2, VAN DEN ENDE-GUPTA SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, COMMON VARIABLE, 6, 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, 3-M SYNDROME 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, WIEACKER-WOLFF SYNDROME, TIMOTHY SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, MYASTHENIC SYNDROME, CONGENITAL, 5, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, IMMUNODEFICIENCY 8, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MUSCULAR DYSTROPHY, CONGENITAL, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, WISKOTT-ALDRICH SYNDROME, GENITOPATELLAR SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, SEIZURES, BENIGN FAMILIAL INFANTILE, 3, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, JOUBERT SYNDROME 7, 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, JOUBERT SYNDROME-3, MYASTHENIC SYNDROME, CONGENITAL, 16, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, BLOOM SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, ESCOBAR SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, RESTRICTIVE DERMOPATHY, LETHAL, MYOPATHY, MYOFIBRILLAR, 5, PEELING SKIN SYNDROME 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MYASTHENIC SYNDROME, CONGENITAL, 19, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, RENAL ADYSPLASIA, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, CROUZON SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, DYSAUTONOMIA, FAMILIAL, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, JOUBERT SYNDROME 6, PALLISTER-HALL SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, ?MYASTHENIC SYNDROME, CONGENITAL, 17, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, HERMANSKY-PUDLAK SYNDROME 7, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, IMMUNODEFICIENCY, COMMON VARIABLE, 3, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

LMNA, RPL5, NEU1, CAV1, SQSTM1, FGFR1, LRP4, CAV3, ADRB2, PLEKHG5, NAA10, CHRNG, SCNN1A, AGRN, CD8A, CIITA, GLI3, NRXN1, F2, AGT, TP63, IRF7, LEP, AGTR1, COLQ, DSG1, ITGA8, EIF4A3, WT1, B2M, CFL2, ENG, DST, ITGA3, TERT, FBP1, COL1A1, DNM2, DES, NCF4, COL13A1, SMAD4, TBK1, ECM1, IL13, CNTNAP1, SPECC1L, SF3B4, ERBB4, ACTA1, ACE, CHRND, SCN4A, MYOM1, FGFR3, KRAS, GJA1, ERBB3, CBL, ELN, EGFR, ADCY6, TRPV4, PIGT, NOTCH1, DAG1, TNF, CORO1A, EDNRA, CD3E, TAF6, SDCCAG8, PIK3CD, JAK2, DSP, IKBKAP, CCND1, IFNG, TPM2, EFTUD2, MPC1, KAT6B, HSPD1, CD81, GRIP1, ACTA2, RYR1, TALDO1, ACVR1, KMT2A, TYK2, SNAP25, BMPR2, KCNA5, PTCH1, NCF1, RET, UBN1, DDR2, SOX9, RAB3GAP2, CDK5, CEP290, STAT1, DOK7, CASR, CNTN1, DMD, CHRNA1, VHL, HES7, USP9X, RAPSN, BMP2, RPGRIP1L, AKT1, SCN4B, PLEC, TPI1, PRKDC, FHL1, ASCL1, DTNBP1, CUL7, WAS, LRP2, ATP1A3, IKBKB, DCTN1, CASP8, SCN2A, CDSN, EDN1, ITCH, KCNQ2, PTEN, ALMS1, MUSK, BTK, TUBB4A, STAT3, RUNX2, SELP, AHI1, LCK, ZC4H2, FLNA, CHRNE, ZAP70, BIN1, MYH7, INPPL1, JAGN1, FLNC, TGFB1, SCN5A, PIP5K1C, CFTR, AP3B1, FGF10, NFKB1, TSC1, CACNA1C, CD19, CARD11, PLG, SERPINH1, SCARF2, BLM, FGFR2, CREBBP, PTPRC, PIK3R1, SGCG, BDNF, ATP5A1, GPC3, CHRNB1, FLNB, HRAS, TMEM67, ITGA7, ADA, OCLN, MYH11, HSPG2, NEB, SKI, TINF2, MEGF10, SYNE2, GATA2, SHH

THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ATELOSTEOGENESIS, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, METATROPIC DYSPLASIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, SADDAN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MYOPATHY, MYOFIBRILLAR, 5, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, 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, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CD8 DEFICIENCY, FAMILIAL, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, VAN DEN ENDE-GUPTA SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, COMMON VARIABLE, 6, 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, OSTEOGLOPHONIC DYSPLASIA, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DUCHENNE MUSCULAR DYSTROPHY, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, 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, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MYHRE SYNDROME, RENAL ADYSPLASIA, CROUZON SYNDROME, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, APERT SYNDROME, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, PROTEUS SYNDROME, SOMATIC

LMNA, CAV1, FGFR1, KMT2A, COL1A1, CD8A, RPL5, F2, AGT, TAF6, CDK5, EDN1, GJA1, B2M, ENG, SCARF2, ITGA3, DNM2, CNTNAP1, CD81, SF3B4, PTEN, ACTA1, ACE, TRPV4, KRAS, CASP8, PIGT, NOTCH1, DAG1, TNF, EDNRA, LEP, AGRN, CBL, CCND1, IFNG, STAT1, WAS, DDR2, PTPRC, SNAP25, CAV3, FLNC, ITGA8, SMAD4, TPM2, DMD, VHL, HES7, BMP2, AKT1, PLEC, INPPL1, PRKDC, FHL1, ASCL1, CARD11, LRP2, ATP5A1, KCNQ2, ERBB4, FGFR3, LCK, FLNA, BIN1, MYH7, TGFB1, PIP5K1C, FGF10, NFKB1, STAT3, PLG, SERPINH1, DST, FGFR2, SGCG, GPC3, RET, SYNE2, HRAS, EGFR, ITGA7, SELP, MYH11, HSPG2, PIK3R1, JAK2, FLNB, SHH

KRABBE DISEASE, ATYPICAL, NON-IMMUNE HYDROPS FETALIS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), KAPPA LIGHT CHAIN DEFICIENCY, NIEMANN-PICK DISEASE, TYPE A, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MUCOPOLYSACCHARIDOSIS, MPS-III-A, OSTEOGENESIS IMPERFECTA, TYPE II, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, MUCOPOLYSACCHARIDOSIS II, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS IS, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, RHEUMATOID ARTHRITIS, FARBER LIPOGRANULOMATOSIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NIEMANN-PICK DISEASE, TYPE B, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH/S, TUBEROUS SCLEROSIS 2, COMBINED SAP DEFICIENCY, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, GAUCHER DISEASE, PERINATAL LETHAL, MUCOPOLYSACCHARIDOSIS IVA, GAUCHER DISEASE, TYPE I

ACTA1, GPC3, GLB1, SMPD1, COL1A1, IDS, NOTCH1, STAT1, TGFB2, GUSB, GNS, CTSD, ASAH1, HEXA, BMP2, AGRN, IDUA, CBL, MRPL3, NAGLU, GBA, IFNG, GLA, HLA-DRB1, LRP2, SGSH, TGFB1, NEU1, GALNS, EGFR, PSAP, HSPG2, ARSB, IL13, IGKC, SHH

THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYOPATHY, MYOFIBRILLAR, 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, RHEUMATOID ARTHRITIS, SICKLE CELL ANEMIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYOPATHY, MYOFIBRILLAR, 5, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PROTEUS SYNDROME, SOMATIC

ACTA1, F2, HBB, PROS1, ERBB3, SERPINA1, TGFB1, STAT1, TGFB2, AGT, GATA2, LEP, PLG, AKT1, IL10, CRYAB, FLNC, PTEN, SCGB3A2, ADA, PRSS1, F13A1, HSPG2, TNF, SERPING1

HYPER-IGE RECURRENT INFECTION SYNDROME, PULMONARY ALVEOLAR MICROLITHIASIS, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, ?IMMUNODEFICIENCY 39, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, PULMONARY VENOOCCLUSIVE DISEASE 1, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 35, INSOMNIA, FATAL FAMILIAL, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, WRINKLY SKIN SYNDROME, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, JOUBERT SYNDROME 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIID, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, EPILEPSY, PYRIDOXINE-DEPENDENT, 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, TIMOTHY SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, TRIFUNCTIONAL PROTEIN DEFICIENCY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, AGAMMAGLOBULINEMIA 1, PARAMYOTONIA CONGENITA, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, IMMUNODEFICIENCY, COMMON VARIABLE, 5, MEIER-GORLIN SYNDROME 2, KEUTEL SYNDROME, HEMOCHROMATOSIS TYPE 1, TUBEROUS SCLEROSIS-1, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, MYASTHENIC SYNDROME, CONGENITAL, 16, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, VAN MALDERGEM SYNDROME 2, ASPARTYLGLUCOSAMINURIA, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, EHLERS-DANLOS SYNDROME, TYPE VI, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, DYSAUTONOMIA, FAMILIAL, AGAMMAGLOBULINEMIA 3, 2-METHYLBUTYRYLGLYCINURIA, HYPOMYELINATION, GLOBAL CEREBRAL, GAUCHER DISEASE, TYPE I, NETHERTON SYNDROME, IMMUNODEFICIENCY 20, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, PROTEUS SYNDROME, SOMATIC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, GAUCHER DISEASE, PERINATAL LETHAL, 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, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, AMYOTROPHIC LATERAL SCLEROSIS 19, MUCOPOLYSACCHARIDOSIS IS, MEIER-GORLIN SYNDROME 1, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, FARBER LIPOGRANULOMATOSIS, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, SHPRINTZEN-GOLDBERG SYNDROME, ATAXIA-TELANGIECTASIA, RAINE SYNDROME, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, DYSKERATOSIS CONGENITA, X-LINKED, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, PRIMARY PULMONARY HYPERTENSION, IMMUNODEFICIENCY 19, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MARTSOLF SYNDROME, 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, ACHONDROGENESIS IB, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, MUCOPOLYSACCHARIDOSIS IH, OPSISMODYSPLASIA, HERMANSKY-PUDLAK SYNDROME 2, VAN DEN ENDE-GUPTA SYNDROME, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, SHWACHMAN-DIAMOND SYNDROME, NON-IMMUNE HYDROPS FETALIS, COACH SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DUCHENNE MUSCULAR DYSTROPHY, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, DYSTONIA 25, ?MYASTHENIC SYNDROME, CONGENITAL, 18, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, AURICULOCONDYLAR SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, ?IMMUNODEFICIENCY 22, PNEUMOTHORAX, PRIMARY SPONTANEOUS, 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, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, BLOOM SYNDROME, MUCOPOLYSACCHARIDOSIS, MPS-III-A, 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), JOUBERT SYNDROME 5, COMPLEMENT FACTOR I DEFICIENCY, ULNAR-MAMMARY SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, 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, MUCOPOLYSACCHARIDOSIS IVA, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, PULMONARY VENOOCCLUSIVE DISEASE 2, HERMANSKY-PUDLAK SYNDROME 7, 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, ANGIOEDEMA, HEREDITARY, TYPES I AND II, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ANGIOEDEMA, HEREDITARY, TYPE III, ?OSTEOGENESIS IMPERFECTA, TYPE X, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, METATROPIC DYSPLASIA, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, FUCOSIDOSIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, GLUTAMINE DEFICIENCY, CONGENITAL, SADDAN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, CD8 DEFICIENCY, FAMILIAL, 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, FILS SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, BIOTINIDASE DEFICIENCY, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, COMBINED SAP DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SERKAL SYNDROME, HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, KAPPA LIGHT CHAIN DEFICIENCY, ?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, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, COENZYME Q10 DEFICIENCY, PRIMARY, 5, IMMUNODEFICIENCY 8, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, NIEMANN-PICK DISEASE, TYPE B, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CORNELIA DE LANGE SYNDROME 1, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, JOUBERT SYNDROME-3, DIAMOND-BLACKFAN ANEMIA 10, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AMYOTROPHIC LATERAL SCLEROSIS 17, AMYOTROPHIC LATERAL SCLEROSIS 21, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, FIBROCHONDROGENESIS 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, MYOPATHY, MYOFIBRILLAR, 6, 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, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, MYOPATHY, MYOFIBRILLAR, 2, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, STUVE-WIEDEMANN SYNDROME/SCHWARTZ-JAMPEL TYPE 2 SYNDROME, RENAL ADYSPLASIA, CUTIS LAXA, AD, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, C1R/C1S DEFICIENCY, COMBINED, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, PALLISTER-HALL SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, APERT SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, IMMUNODEFICIENCY 21, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, LYSINURIC PROTEIN INTOLERANCE, CHONDRODYSPLASIA, BLOMSTRAND TYPE, 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, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, TRANSALDOLASE DEFICIENCY, 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, HERMANSKY-PUDLAK SYNDROME 1, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, 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, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), 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, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, URBACH-WIETHE DISEASE, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, WHITE SPONGE NEVUS 2, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, PITT-HOPKINS-LIKE SYNDROME 2, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, VAN MALDERGEM SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, GLYCOGEN STORAGE DISEASE II, NIEMANN-PICK DISEASE, TYPE C2, AGAMMAGLOBULINEMIA 2, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, HYPEREKPLEXIA 3, ?MICROPHTHALMIA, SYNDROMIC 1, GENITOPATELLAR SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), JOUBERT SYNDROME 8, CHILD SYNDROME, SECKEL SYNDROME 9, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ENCEPHALOPATHY, NEONATAL SEVERE, EHLERS-DANLOS SYNDROME, TYPE IV, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, RENPENNING SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, CARDIOMYOPATHY, HYPERTROPHIC, 17, NEU-LAXOVA SYNDROME 1, PLEUROPULMONARY BLASTOMA, AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE, PEELING SKIN SYNDROME 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, LARYNGOONYCHOCUTANEOUS SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, JOUBERT SYNDROME 18, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, FEINGOLD SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, WISKOTT-ALDRICH SYNDROME, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUCOPOLYSACCHARIDOSIS IH/S, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, IMMUNODEFICIENCY, COMMON VARIABLE, 3, SIALURIA, 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, DYSTONIA 27, AGAMMAGLOBULINEMIA 6

TSC2, CHMP2B, HBB, FGFR1, PROS1, TCTN3, DCHS1, CIITA, COL3A1, RPL5, FTL, GUSB, VMA21, UBA1, NSDHL, KCNH2, B2M, SPINK1, ENG, RANBP2, ITGA3, DNM2, NCF4, MS4A1, CYB5R3, CREBBP, DYNC2H1, JPH2, SCN4A, TRPV4, ERBB3, SPINK5, COL6A2, CD79A, ALDH7A1, DAG1, ASAH1, TAF6, BTD, PIK3CD, ALAD, IFNG, AIFM1, CBL, CCND1, JAK2, EFTUD2, SUCLA2, NKX2-1, SGSH, HSPD1, TNNT2, SH2D1A, TP63, TYK2, NDUFS7, CAV3, BANF1, DDR2, IL2RA, SSR4, SUFU, SMAD4, CHST14, CEP290, C1R, TPM2, SLC6A5, LEP, LAMA3, CTSD, PQBP1, CHRNA1, AKT1, INPPL1, LRPPRC, GLI3, GNE, PEX5, ECHS1, HAMP, SCGB1A1, MTM1, POLA1, LRP5, LIPA, LAMA2, DICER1, STAT3, MT-CO2, NDUFS4, SCARF2, FCGR3A, BDNF, CHAT, LRP2, SARS2, EXOC8, BMPR2, PCK1, HADHB, NDUFS2, CYBA, TREX1, KMT2A, TRAIP, ORC4, NAA10, MFN2, CD8A, COL1A2, COL11A2, CDKN1B, ASCC1, REN, IDUA, MYH7, COL6A1, DNASE1, SLC25A1, WT1, BAG3, BLNK, NEK8, DES, MT-CO3, PKHD1, GALNS, NRAS, CD79B, IKBKAP, IL2RG, CD81, SF3B4, SERPING1, SOX9, TGFB2, SLC26A2, SERPINA1, ADCY6, NOTCH1, MYCN, SMAD9, CORO1A, EDNRA, CD3E, EGR2, CFL2, SGCG, MYOM1, KAT6B, ZMPSTE24, FGFR3, GDNF, ETFDH, ACTA2, TSR2, SNAP25, NCF1, ALPL, ITGA8, MT-ATP6, GNS, HNMT, PTH1R, GMPPB, NFKB2, BMP2, SERPINC1, ALOX5, NDN, SLC5A7, ASCL1, NAGLU, ETFA, EGFR, SOX18, IKBKB, CASP8, KCNQ2, PRSS1, FREM2, NFKBIL1, MT-ND3, NDUFV1, COG4, IRF5, CYBB, SLC12A6, JAGN1, PRKCSH, TGFB1, SOST, GNAL, CFTR, TSC1, ZBTB24, CACNA1C, COL6A3, COQ9, BLM, NIPBL, WDR60, OFD1, ATP1A3, AGA, CTLA4, KIF1BP, TMEM67, ARL13B, MGP, HSPG2, FCGR2A, GPD1L, IL21, LMNA, F2, CD3D, ADRB2, SQSTM1, PEX6, NRXN1, RPS26, NDUFA1, AGT, IGKC, GNAI3, MOGS, CDK5, STK11, IL10, IGHM, ITCH, FBP1, PLEKHG5, LTBP4, BMPER, HADHA, SBDS, TBK1, ECM1, COL2A1, BAP1, ERBB4, NUBPL, ACTA1, VRK1, GRIP1, PLEC, DSP, SCNN1G, GPC3, PGM1, TNF, GATA2, ACVRL1, SCNN1A, HEXA, GFPT1, PLOD1, PROC, TUBB4A, NFKBIA, ACP5, MPC1, FKBP14, TMEM173, NDUFA9, TALDO1, ACVR1, PAM16, DLL3, KCNA5, FAM20C, GLB1, DKC1, SMPD1, TNPO3, AGTR1, SDHD, STAT1, CNTN1, GALNT14, VHL, BCS1L, RAPSN, LTBP2, PSAP, FLNB, FBN1, PHGDH, DCTN1, DNA2, EDN1, TERT, TTN, ACADSB, PTEN, F13A1, DST, AHI1, NDUFS3, KCNQ1, IL4R, PTGER2, FAT4, ABCA3, B3GAT3, JAK3, AP3B1, FGF10, UPK3A, WAS, POLE, LRBA, IL13, SCN5A, NDUFA10, GBA, SUCLG1, PIP5K1C, LAMTOR2, F12, HRAS, POLG, SFTPC, OCLN, ZAP70, SLC25A12, TINF2, TUFM, FUCA1, CAV1, COL1A1, PIGT, TAP1, TBX3, NBN, IRF7, MUC5B, COL5A1, DSG1, ELN, CDSN, BTK, PLG, NDUFB3, MT-ND1, IGLL1, NEU1, EFEMP2, WNT4, RAB3GAP2, NDUFB9, CNTNAP1, KRT13, ATP6V0A2, PTCH1, ACE, FBLN5, FLCN, SCNN1B, IFT172, GLUL, TPM3, TARDBP, LIFR, COPA, AGRN, HLA-DRB1, CRYAB, NCF2, NDUFA2, SLC7A7, DTNBP1, PTPRC, MATR3, PAX8, RET, GJA1, CCL11, INPP5E, SNRPB, RPS28, MECP2, SLC34A2, PADI4, CASR, FOXF1, DMD, IL1RN, MUC7, EIF2AK4, KRAS, PRKDC, NDUFS1, MRPL3, CARD11, CFI, PHOX2B, ICOS, HLA-G, MCM4, ARSB, DNMT3B, MUSK, ADA, NPC2, TPI1, GAA, RUNX2, LCK, GLE1, FLNA, BIN1, PRNP, ATM, SPG11, ETFB, NFKB1, NEB, ORC1, CD19, SERPINH1, FGFR2, PLCG2, MARS, GLA, PDGFRA, TAPBP, ATP5A1, FLNC, PNP, HFE, EXOSC3, ITGA7, MPDU1, SELP, MYH11, TBX21, CR2, PIK3R1, HPS1, RYR1, SHH

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION, THANATOPHORIC DYSPLASIA, TYPE II, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, KAPPA LIGHT CHAIN DEFICIENCY, ASPARTYLGLUCOSAMINURIA, HYPER-IGE RECURRENT INFECTION SYNDROME, MUCOPOLYSACCHARIDOSIS IH/S, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, GLYCOGEN STORAGE DISEASE II, THANATOPHORIC DYSPLASIA, TYPE I, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, FEINGOLD SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, IMMUNODEFICIENCY 14, ?IMMUNODEFICIENCY 37, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ?IMMUNODEFICIENCY 39, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, NIEMANN-PICK DISEASE, TYPE C2, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, PRIMARY PULMONARY HYPERTENSION, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUCOPOLYSACCHARIDOSIS IS, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, CEROID LIPOFUSCINOSIS, NEURONAL, 10, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, HERMANSKY-PUDLAK SYNDROME 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, CHOLESTERYL ESTER STORAGE DISEASE, WOLMAN DISEASE, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FARBER LIPOGRANULOMATOSIS, AGAMMAGLOBULINEMIA 3, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HERMANSKY-PUDLAK SYNDROME 2, FUCOSIDOSIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, SADDAN, IMMUNODEFICIENCY 43, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, COMBINED SAP DEFICIENCY, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, KRABBE DISEASE, ATYPICAL, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

KCNA5, TUFM, NCF1, FUCA1, NEU1, TGFB2, KCNQ1, CYBB, GJA1, IL2RA, MYH7, ADRB2, LIPA, IRF5, MYCN, SQSTM1, TNF, CD79A, NPC2, ARSB, ACP5, IRF7, GLB1, AP3B1, AGT, TGFB1, IGKC, HLA-DRB1, ASAH1, STAT3, AGTR1, VMA21, NCF4, PIK3CD, AKT1, BTK, KCNH2, LRBA, IDUA, B2M, MRPL3, TINF2, NAGLU, CBL, ERBB3, AGRN, GNS, GLA, STAT1, LRP2, BCL10, NCF2, AGA, PSAP, SNAP25, HRAS, EGFR, CASR, SFTPB, ADA, SELP, FGFR3, TBK1, HSPG2, EXOC8, TP63, CFTR, IL13, GAA, PLG, HPS1, CTSD

HYPER-IGE RECURRENT INFECTION SYNDROME, PULMONARY ALVEOLAR MICROLITHIASIS, ?CORNEAL INTRAEPITHELIAL DYSKERATOSIS AND ECTODERMAL DYSPLASIA, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, THANATOPHORIC DYSPLASIA, TYPE I, DUCHENNE MUSCULAR DYSTROPHY, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY, COMMON VARIABLE, 6, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, ?IMMUNODEFICIENCY 39, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, PULMONARY VENOOCCLUSIVE DISEASE 1, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 19, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, IMMUNODEFICIENCY 35, INSOMNIA, FATAL FAMILIAL, CORNELIA DE LANGE SYNDROME 1, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, WRINKLY SKIN SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, LARSEN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, FAZIO-LONDE DISEASE, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, ?TETRA-AMELIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, JOUBERT SYNDROME 15, MYOPATHY, MYOFIBRILLAR, 5, LYMPHEDEMA, HEREDITARY, III, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 9, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, PARAGANGLIOMAS 3, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TIMOTHY SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, TRIFUNCTIONAL PROTEIN DEFICIENCY, CRANIOMETAPHYSEAL DYSPLASIA, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), PARAMYOTONIA CONGENITA, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, GLYCOGEN STORAGE DISEASE IC, IMMUNODEFICIENCY, COMMON VARIABLE, 5, MEIER-GORLIN SYNDROME 2, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, HEMOCHROMATOSIS TYPE 1, TRIMETHYLAMINURIA, TUBEROUS SCLEROSIS-1, LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1, MYASTHENIC SYNDROME, CONGENITAL, 16, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, VAN MALDERGEM SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, DYSTONIA 24, PLEUROPULMONARY BLASTOMA, CPT DEFICIENCY, HEPATIC, TYPE II, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, MUSCULAR DYSTROPHY, RIGID SPINE, 1, TARP SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, EHLERS-DANLOS SYNDROME, TYPE VI, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, DYSAUTONOMIA, FAMILIAL, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, AGAMMAGLOBULINEMIA 3, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, 2-METHYLBUTYRYLGLYCINURIA, HYPOMYELINATION, GLOBAL CEREBRAL, GAUCHER DISEASE, TYPE I, NETHERTON SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, IMMUNODEFICIENCY 20, EPISODIC PAIN SYNDROME, FAMILIAL, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, PROTEUS SYNDROME, SOMATIC, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, GAUCHER DISEASE, PERINATAL LETHAL, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, CILIARY DYSKINESIA, PRIMARY, 25, ATELOSTEOGENESIS, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, NIJMEGEN BREAKAGE SYNDROME, 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, NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, FARBER LIPOGRANULOMATOSIS, HYPOPHOSPHATASIA, INFANTILE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FAMILIAL MEDITERRANEAN FEVER, AR, MUCOLIPIDOSIS II ALPHA/BETA, CILIARY DYSKINESIA, PRIMARY, 6, JOUBERT SYNDROME 20, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, CEREBROTENDINOUS XANTHOMATOSIS, SHPRINTZEN-GOLDBERG SYNDROME, ATAXIA-TELANGIECTASIA, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MYOPATHY, SPHEROID BODY, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, NEPHRONOPHTHISIS 2, INFANTILE, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DYSTONIA 27, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, DYSKERATOSIS CONGENITA, X-LINKED, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, ?RENAL HYPODYSPLASIA/APLASIA 2, PRIMARY PULMONARY HYPERTENSION, IMMUNODEFICIENCY 19, BEARE-STEVENSON CUTIS GYRATA SYNDROME, MARTSOLF SYNDROME, 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, ACHONDROGENESIS IB, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, OPSISMODYSPLASIA, HERMANSKY-PUDLAK SYNDROME 2, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, IMMUNODEFICIENCY 36, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, NON-IMMUNE HYDROPS FETALIS, COACH SYNDROME, MECKEL SYNDROME 1, MUSCULAR DYSTROPHY, CONGENITAL, MYASTHENIC SYNDROME, CONGENITAL, 5, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, MEIER-GORLIN SYNDROME 3, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, ?MYASTHENIC SYNDROME, CONGENITAL, 18, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, IMMUNODEFICIENCY 23, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, CILIARY DYSKINESIA, PRIMARY, 13, DESBUQUOIS DYSPLASIA 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, {MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO}, AURICULOCONDYLAR SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, ?IMMUNODEFICIENCY 22, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, KRABBE DISEASE, ATYPICAL, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, IMMUNODEFICIENCY 11, CHOPS SYNDROME, 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, CEREBELLOFACIODENTAL SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, BLOOM SYNDROME, MUCOPOLYSACCHARIDOSIS, MPS-III-A, CILIARY DYSKINESIA, PRIMARY, 26, ESCOBAR SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), JOUBERT SYNDROME 5, COMPLEMENT FACTOR I DEFICIENCY, ULNAR-MAMMARY SYNDROME, ?IMMUNODEFICIENCY 37, HYPEREKPLEXIA 3, GREENBERG SKELETAL DYSPLASIA, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, JOUBERT SYNDROME 6, TUMOR PREDISPOSITION SYNDROME, DYSTONIA 25, ?MICROPHTHALMIA, SYNDROMIC 1, IMMUNODEFICIENCY 9, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, PULMONARY VENOOCCLUSIVE DISEASE 2, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, ?IMMUNODEFICIENCY, COMMON VARIABLE, 11, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, LONG QT SYNDROME 13, MYASTHENIC SYNDROME, CONGENITAL, 10, ANGIOEDEMA, HEREDITARY, TYPES I AND II, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, ANGIOEDEMA, HEREDITARY, TYPE III, ?OSTEOGENESIS IMPERFECTA, TYPE X, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, METATROPIC DYSPLASIA, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, GLUTAMINE DEFICIENCY, CONGENITAL, SADDAN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, 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, CD8 DEFICIENCY, FAMILIAL, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, FILS SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, HYDROLETHALUS SYNDROME, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MICROPHTHALMIA, SYNDROMIC 12, BETHLEM MYOPATHY 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, COMBINED SAP DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, 3-M SYNDROME 1, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, KAPPA LIGHT CHAIN DEFICIENCY, ?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, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, OSTEOGENESIS IMPERFECTA, TYPE II, IMMUNODEFICIENCY 14, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, ?JOUBERT SYNDROME 26, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY, COMMON VARIABLE, 7, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, NIEMANN-PICK DISEASE, TYPE B, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, POLYCYSTIC LIVER DISEASE, ?IMMUNODEFICIENCY 13, IMMUNODEFICIENCY, COMMON VARIABLE, 2, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, JOUBERT SYNDROME-3, DIAMOND-BLACKFAN ANEMIA 10, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AMYOTROPHIC LATERAL SCLEROSIS 17, AMYOTROPHIC LATERAL SCLEROSIS 21, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE, FIBROCHONDROGENESIS 2, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, SENGERS SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, HETEROTAXY, VISCERAL, 2, AUTOSOMAL, AGAMMAGLOBULINEMIA 4, FAMILIAL MEDITERRANEAN FEVER, AD, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MYOPATHY, MYOFIBRILLAR, 2, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, RENAL ADYSPLASIA, CUTIS LAXA, AD, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, C1R/C1S DEFICIENCY, COMBINED, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, FEINGOLD SYNDROME, PALLISTER-HALL SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, APERT SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, THANATOPHORIC DYSPLASIA, TYPE II, FRASER SYNDROME, BROWN-VIALETTO-VAN LAERE SYNDROME 1, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, IMMUNODEFICIENCY 21, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, LYSINURIC PROTEIN INTOLERANCE, CHONDRODYSPLASIA, BLOMSTRAND TYPE, 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, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, TRANSALDOLASE DEFICIENCY, 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, MYOPATHY, TUBULAR AGGREGATE, 1, HERMANSKY-PUDLAK SYNDROME 1, CODAS SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, IMMUNODEFICIENCY, PRIMARY, AUTOSOMAL RECESSIVE, IL21R-RELATED, RETT SYNDROME, CONGENITAL VARIANT, RUBINSTEIN-TAYBI SYNDROME, DIAPHANOSPONDYLODYSOSTOSIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, BARDET-BIEDL SYNDROME 16, SMITH-LEMLI-OPITZ SYNDROME, 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, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, VLCAD DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 7, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), 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, 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, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2, 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, PITT-HOPKINS-LIKE SYNDROME 2, 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], MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, TUBEROUS SCLEROSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, VAN MALDERGEM SYNDROME 1, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, OSTEOGLOPHONIC DYSPLASIA, NIEMANN-PICK DISEASE, TYPE A, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC, GLYCOGEN STORAGE DISEASE II, NIEMANN-PICK DISEASE, TYPE C2, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, AGAMMAGLOBULINEMIA 2, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, COENZYME Q10 DEFICIENCY, PRIMARY, 5, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), SEIZURES, BENIGN FAMILIAL INFANTILE, 3, JOUBERT SYNDROME 8, CHILD SYNDROME, OPITZ-KAVEGGIA SYNDROME, IMMUNODEFICIENCY 8, SECKEL SYNDROME 9, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ENCEPHALOPATHY, NEONATAL SEVERE, FANCONI ANEMIA, COMPLEMENTATION GROUP L, EHLERS-DANLOS SYNDROME, TYPE IV, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, JOUBERT SYNDROME 14, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, RENPENNING SYNDROME, CPT II DEFICIENCY, LETHAL NEONATAL, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, CARDIOMYOPATHY, HYPERTROPHIC, 17, AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE, PEELING SKIN SYNDROME 1, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS, AGAMMAGLOBULINEMIA 1, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, IMMUNODEFICIENCY, COMMON VARIABLE, 3, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, OMENN SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, WISKOTT-ALDRICH SYNDROME, 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, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, KABUKI SYNDROME 1, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, 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, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME-2, AGAMMAGLOBULINEMIA 6

TSC2, RPL5, CHMP2B, HBB, FGFR1, PROS1, DCHS1, LBR, CIITA, COL3A1, ANO3, FTL, GUSB, SDHA, VMA21, UBA1, NSDHL, KCNH2, TRIP4, B2M, DNAAF1, ENG, RANBP2, ITGA3, DPM2, AGK, NCF4, MS4A1, POR, CYB5R3, DNAI2, CREBBP, TRMT5, DYNC2H1, PTEN, MYOT, SCN4A, F13A1, ITGA8, ERBB3, MEGF10, NDUFAF3, NALCN, PTPN22, IRF5, CD79A, SQSTM1, DAG1, ASAH1, MT-ND6, TAF6, PIK3CD, AGRN, AIFM1, IL10, SMARCE1, CCND1, JAK2, EFTUD2, SUCLA2, NKX2-1, HSPD1, ABCD4, TNNT2, SH2D1A, PSAP, TP63, TYK2, NDUFS7, MT-CO1, CAV3, BANF1, NCF2, DDR2, IL2RA, SSR4, SUFU, NDUFA12, SCNN1B, GDNF, CEP290, C1R, TPM2, LRP5, LEP, ICOS, MATR3, PQBP1, COLQ, INVS, CHRNA1, TCTN1, AKT1, TPI1, LRPPRC, COX15, SCN2A, GLI3, GNE, PEX5, IL1RN, HAMP, SCGB1A1, MTM1, SLC7A7, POLA1, DSP, DPM1, SLC6A5, IGHMBP2, CYBB, SEPN1, PIGN, LAMA2, WNT3, BCL10, DICER1, TSR2, DYX1C1, COL6A1, DST, FKTN, FKRP, SALL4, ZMPSTE24, BDNF, SNRPB, BRAT1, POMK, FANCL, EGFR, SARS2, EXOC8, BMPR2, TAP2, HADHB, SURF1, GNPTAB, CYBA, TREX1, LRP4, TRAIP, ORC4, MKS1, MT-CO2, MFN2, CD8A, COL1A2, COL11A2, ASCC1, ECHS1, BMP2, REN, G6PC3, ADGRG6, NDUFS4, CCL11, SLC25A1, WT1, BAG3, BLNK, NEK8, DES, CDT1, PKHD1, MEFV, NRAS, CD79B, SLC37A4, AARS2, IL2RG, CUL7, SF3B4, COX8A, SOX9, TGFB2, SLC26A2, SERPINA1, ADCY6, DPAGT1, TRPV4, TMEM231, NOTCH1, MYCN, CORO1A, EDNRA, CD3E, EGR2, SNRPN, CFL2, AFF4, SGCG, EXOSC8, MYOM1, RBM10, FCGR3A, FAT4, ETFDH, ACTA2, AICDA, PRKCSH, STAT3, RARB, SNAP25, NCF1, STIM1, ALPL, NDUFB3, MT-ATP6, KCNJ5, DNAJB6, SMAD9, SNIP1, PTH1R, GMPPB, NFKB2, ALOX5, TMEM70, ANKH, SPINK5, NDN, SLC5A7, NPHP3, ASCL1, NAGLU, FRAS1, LRP2, COG4, IKBKB, CASP8, KCNQ2, PGM3, ERBB4, FREM2, NME8, TUBB4A, MT-ND3, NDUFV1, DDX41, CD244, COL6A2, CHRNE, C21orf59, NDUFS1, SLC12A6, JAGN1, B3GAT3, TGFB1, HYLS1, PIP5K1C, KMT2D, CFTR, STAT1, TSC1, ZBTB24, CACNA1C, SCO1, KCNJ8, PLG, COQ9, NDUFB9, FCGR2B, PIK3R1, OFD1, ATP1A3, CTLA4, KIF1BP, TMEM67, STRA6, ARL13B, ADA, EPOR, SLC25A20, HSPG2, FCGR2A, SKI, SYNE2, GPD1L, IL21, LMNA, F2, CD3D, ADRB2, SDHC, CYP27A1, PEX6, NRXN1, RPS26, NDUFA1, AGT, IGKC, GNAI3, MOGS, CDK5, KMT2A, EIF4A3, PIGC, STK11, KIAA0556, IL21R, ARSB, FBP1, PLEKHG5, BMPER, HADHA, SERPING1, NAA10, TBK1, ECM1, COL2A1, BAP1, NUBPL, ACTA1, VRK1, GRIP1, PLEC, CBL, SCNN1G, NDUFAF6, COQ4, GPC3, ORAI1, PGM1, PARN, DCLRE1C, TNF, GATA2, ACVRL1, SCNN1A, EDA, HEXA, MS4A2, GFPT1, PLOD1, PROC, NDUFAF4, GAA, NFKBIA, EBP, MPC1, NDUFS2, FKBP14, TMEM173, NDUFA9, TALDO1, SLC22A4, ACVR1, PAM16, TMEM237, KCNA5, GLB1, DKC1, SMPD1, TNPO3, PEX1, AGTR1, SDHD, SDCCAG8, HLA-DRB1, CNTN1, GALNT14, VHL, USP9X, RAPSN, FZD6, FLNB, FHL1, ATP5A1, TBX21, DCTN1, DNA2, EDN1, MCCC1, ACADSB, JPH2, FGFR3, AMER1, TK2, CHRND, AHI1, SERPINC1, KCNQ1, MYH7, IL17RA, DHCR7, IL4R, COX14, PTGER2, DOCK8, ABCA3, PRNP, JAK3, AP3B1, FGF10, XYLT1, UPK3A, WAS, TCF4, POLE, LRBA, IL13, ATM, NDUFA10, GBA, SUCLG1, GNAL, LAMTOR2, F12, HRAS, POLG, NDUFS6, SCGB3A2, OCLN, ZAP70, SLC25A12, PEX7, TINF2, TUFM, IER3IP1, CFC1, NEU1, CAV1, COL1A1, FMO3, CHRNG, SLC52A3, NDUFA11, PIGT, DNM2, MT-CO3, TAP1, TBX3, RNASEH1, NBN, IRF7, COL5A1, STT3B, DSG1, ELN, CDSN, BTK, COL6A3, COX6B1, RAB3GAP2, IGLL1, NDUFS8, COQ7, COX20, SERPINH1, EFEMP2, COL13A1, WNT4, SMAD4, CPT2, BLM, CNTNAP1, ATP6V0A2, TRPA1, PTCH1, ACE, FBLN5, FLCN, CHST14, CPOX, PIEZO1, TPM3, TARDBP, CDKN1B, COPA, LONP1, IKBKAP, IFNG, IGHM, CRYAB, MPZ, SLC35C1, ORC6, CD81, NDUFA2, POMT2, NLRP1, ACADVL, DTNBP1, PTPRC, CTSD, PAX8, TNFRSF13B, UNC119, NARS2, IL7R, ETFA, CSF2RB, INPP5E, BCS1L, RPS28, MECP2, SLC34A2, DOK7, CASR, DMD, TRIM2, FOXG1, MUC7, EIF2AK4, KRAS, PRKDC, SLC25A26, MRPL3, CARD11, CFI, MED12, SEC63, EXOSC3, PHOX2B, HLA-G, MCM4, ITCH, DNMT3B, MUSK, WDR34, NPC2, INPPL1, HGSNAT, LYRM4, RUNX2, SELP, SCO2, LCK, GLE1, FLNA, BIN1, FLNC, CEP41, SCN5A, SPG11, BRF1, ETFB, NFKB1, NEB, ORC1, CD19, NDUFV2, CEP57, FGFR2, PLCG2, CD3G, MARS, GLUL, PDGFRA, MT-ND5, TAPBP, FBN1, RET, FGF20, GJA1, ITGA7, MPDU1, NHP2, MYH11, MT-ND1, NDUFS3, CR2, SHH, HFE, COX10, RYR1, HFE2

KRABBE DISEASE, ATYPICAL, NON-IMMUNE HYDROPS FETALIS, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), KAPPA LIGHT CHAIN DEFICIENCY, NIEMANN-PICK DISEASE, TYPE A, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MUCOPOLYSACCHARIDOSIS, MPS-III-A, OSTEOGENESIS IMPERFECTA, TYPE II, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, DONNAI-BARROW SYNDROME, MUCOPOLYSACCHARIDOSIS II, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, MUCOPOLYSACCHARIDOSIS IH, MUCOPOLYSACCHARIDOSIS IS, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, RHEUMATOID ARTHRITIS, FARBER LIPOGRANULOMATOSIS, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, NIEMANN-PICK DISEASE, TYPE B, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH/S, TUBEROUS SCLEROSIS 2, COMBINED SAP DEFICIENCY, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, GAUCHER DISEASE, TYPE II, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, GAUCHER DISEASE, PERINATAL LETHAL, MUCOPOLYSACCHARIDOSIS IVA, GAUCHER DISEASE, TYPE I

ACTA1, GPC3, GLB1, SMPD1, COL1A1, IDS, NOTCH1, STAT1, TGFB2, GUSB, GNS, CTSD, ASAH1, HEXA, BMP2, AGRN, IDUA, CBL, MRPL3, NAGLU, GBA, IFNG, GLA, HLA-DRB1, LRP2, SGSH, TGFB1, NEU1, GALNS, EGFR, PSAP, HSPG2, ARSB, IL13, IGKC, SHH

?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, PERRY SYNDROME, GLYCOGEN STORAGE DISEASE II, NON-IMMUNE HYDROPS FETALIS, 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, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, LYSINURIC PROTEIN INTOLERANCE, AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, AURICULOCONDYLAR SYNDROME 1, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], RENAL TUBULAR DYSGENESIS, MYOTUBULAR MYOPATHY, X-LINKED, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, WRINKLY SKIN SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, HYPOPHOSPHATASIA, INFANTILE, KRABBE DISEASE, ATYPICAL, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TUBEROUS SCLEROSIS 2, BETHLEM MYOPATHY 1, AGAMMAGLOBULINEMIA, X-LINKED 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, COMBINED SAP DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, PULMONARY HYPERTENSION, PRIMARY, 3, GAUCHER DISEASE, PERINATAL LETHAL, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, IMMUNODEFICIENCY 43, IMMUNODEFICIENCY 36, GAUCHER DISEASE, TYPE II, CEROID LIPOFUSCINOSIS, NEURONAL, 10, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, GAUCHER DISEASE, TYPE I, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, PROTEUS SYNDROME, SOMATIC

SELP, TUFM, NCF1, NEU1, CAV1, KRAS, ERBB3, CBL, CASP8, PTPRC, SMAD4, AGTR1, SQSTM1, SCGB1A1, HLA-DRB1, SPG11, ALPL, AP3B1, COL6A1, AGT, IGKC, STAT1, GNAI3, STAT3, CDK5, PLG, AKT1, MYOM1, BTK, B2M, GAA, CCND1, GBA, IL2RA, AGRN, LRP2, LAMTOR2, DCTN1, DNM2, PSAP, ATP6V0A2, HRAS, EGFR, IFNG, SLC7A7, TBK1, HSPG2, TNF, TP63, HGSNAT, JAK2, DYNC2H1, CTSD, GATA2, PIK3R1

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, NON-IMMUNE HYDROPS FETALIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, SELECTIVE T-CELL DEFECT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, BLOOM SYNDROME, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, ?OSTEOGENESIS IMPERFECTA, TYPE X, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), 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, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, 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, MEIER-GORLIN SYNDROME 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, MUCOLIPIDOSIS II ALPHA/BETA, 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, 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, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4, IMMUNODEFICIENCY 35, INSOMNIA, FATAL FAMILIAL, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, RAINE SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ?IMMUNODEFICIENCY 22, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, CILIARY DYSKINESIA, PRIMARY, 33, FEINGOLD SYNDROME, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, PEUTZ-JEGHERS SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, FILS SYNDROME, JOUBERT SYNDROME 5, PSEUDOHYPOALDOSTERONISM, TYPE I, MARTSOLF SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, KAPPA LIGHT CHAIN DEFICIENCY, PRADER-WILLI SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OPSISMODYSPLASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, ?IMMUNODEFICIENCY 13, HERMANSKY-PUDLAK SYNDROME 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, PRIMARY PULMONARY HYPERTENSION, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, 3-M SYNDROME 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, OSTEOGLOPHONIC DYSPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, ?IMMUNODEFICIENCY 37, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, MUSCULAR DYSTROPHY, CONGENITAL, GLYCOGEN STORAGE DISEASE II, ATAXIA-TELANGIECTASIA, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, SED CONGENITA, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, AGAMMAGLOBULINEMIA 1, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, TUBEROUS SCLEROSIS 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HEMOCHROMATOSIS TYPE 1, AURICULOCONDYLAR SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, COMMON VARIABLE IMMUNODEFICIENCY 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, FANCONI ANEMIA, COMPLEMENTATION GROUP L, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OPITZ-KAVEGGIA SYNDROME, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, MUCOPOLYSACCHARIDOSIS, MPS-III-A, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, MYOPATHY, MYOFIBRILLAR, 2, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CROUZON SYNDROME, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, KABUKI SYNDROME 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, LOEYS-DIETZ SYNDROME 4, CEROID LIPOFUSCINOSIS, NEURONAL, 10, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PULMONARY VENOOCCLUSIVE DISEASE 2, AGAMMAGLOBULINEMIA 6, PROTEUS SYNDROME, SOMATIC

TSC2, GNPTAB, CAV1, TREX1, FGFR1, LRP4, FBN1, NCF1, ADRB2, SCNN1A, PIGT, GAS8, COL1A2, RPL5, FTL, CYBA, AGT, IRF7, GNAI3, LEP, CDK5, UBA1, EDN1, KCNH2, BTK, B2M, STK11, FAM20C, IL10, EGR2, IGHM, COL1A1, DNM2, DES, SERPINH1, EFEMP2, CD81, AGRN, SMAD4, TBK1, CD79B, COL2A1, IL2RG, DYNC2H1, PEX5, NUBPL, ACTA1, ACE, LRBA, TGFB2, KRAS, NFKB2, ERBB3, FKTN, SERPINA1, CREBBP, SQSTM1, NFKBIA, MYCN, DAG1, TNF, RYR1, EDNRA, ECM1, CD3E, MOGS, LMNA, PIK3CD, CPOX, COPA, SGCG, AIFM1, CBL, CCND1, IFNG, EFTUD2, NEU1, HSPD1, CUL7, TMEM173, ALPL, ACTA2, TNNT2, TP63, TYK2, SNAP25, CTSD, BMPR2, KCNA5, CAV3, UNC119, GLB1, GJA1, IL2RA, SOX9, SUFU, RAB3GAP2, SDHD, SCNN1B, CEP290, HLA-DRB1, FLNA, CASR, DMD, VHL, RAPSN, BMP2, NDN, AKT1, EIF2AK4, CYBB, TPI1, PRKDC, NDUFS1, LRPPRC, MED12, LRP2, COG4, IKBKB, IGKC, DCTN1, MCM4, ARSB, TTN, KCNQ2, ERBB4, F13A1, SCGB1A1, INPPL1, GAA, RUNX2, LCK, LRP5, KCNQ1, BIN1, JAGN1, B3GAT3, TGFB1, PRNP, SOST, ATM, PIP5K1C, KMT2D, CFTR, AP3B1, FGF10, BCL10, IER3IP1, STAT1, STAT3, ORC1, NOTCH1, PLG, POLE, CEP57, RANBP2, BLM, FGFR2, PTPRC, FKRP, CDKN1B, GLA, JAK3, CRYAB, BDNF, ATP1A3, GPC3, PTH1R, CTLA4, KAT6A, HRAS, FANCL, EGFR, OCLN, ZAP70, HSPG2, EXOC8, PIK3R1, JAK2, HFE, GATA2, SHH

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, 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, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, SED CONGENITA, KNIEST DYSPLASIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?TETRA-AMELIA SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, APLASIA OF LACRIMAL AND SALIVARY GLANDS, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, RENAL TUBULAR DYSGENESIS, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SERKAL SYNDROME, PROTEUS SYNDROME, SOMATIC

SERPINC1, F2, PROS1, COL1A1, PTEN, WNT3, TGFB1, NOTCH1, FGF10, TNF, MUC5B, LEP, EDA, BMP2, MUC7, IFNG, PROC, CCND1, SELP, AGRN, WT1, GPC3, AKT1, EGFR, WNT4, MUSK, HSPG2, AGT, STAT3, COL2A1, SNAP25, PRSS1, SHH

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, DUCHENNE MUSCULAR DYSTROPHY, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, HYPERPARATHYROIDISM, NEONATAL, GLUTAMINE DEFICIENCY, CONGENITAL, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5, KAPPA LIGHT CHAIN DEFICIENCY, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), PROTEUS SYNDROME, SOMATIC

LRP2, CAV3, CASR, DAG1, TNF, CYBB, NCF1, SCGB1A1, LEP, IGKC, ARSB, PLEC, GLUL, FKRP, AKT1, TGFB1, DMD

NEMALINE MYOPATHY 9, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, HYPER-IGE RECURRENT INFECTION SYNDROME, PARAGANGLIOMAS 3, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, IMMUNODEFICIENCY 15, ?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, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, CEREBROCOSTOMANDIBULAR SYNDROME, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, INTERSTITIAL LUNG AND LIVER 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, 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, MEIER-GORLIN SYNDROME 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FAMILIAL MEDITERRANEAN FEVER, AR, PROPIONICACIDEMIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, 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, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, IMMUNODEFICIENCY, COMMON VARIABLE, 10, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, 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, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, FILS SYNDROME, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, RHEUMATOID ARTHRITIS, OTOPALATODIGITAL SYNDROME, TYPE II, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYOPATHY, MYOFIBRILLAR, 5, CILIARY DYSKINESIA, PRIMARY, 20, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, RIDDLE SYNDROME, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, 3-M SYNDROME 1, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, TIMOTHY SYNDROME, NIJMEGEN BREAKAGE SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, MUSCULAR DYSTROPHY, CONGENITAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, ATAXIA-TELANGIECTASIA, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, PRIMARY PULMONARY HYPERTENSION, IMMUNODEFICIENCY 8, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, WISKOTT-ALDRICH SYNDROME, GENITOPATELLAR SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, HEMOCHROMATOSIS TYPE 1, CORNELIA DE LANGE SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CEREBELLOFACIODENTAL SYNDROME, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BLOOM SYNDROME, FAMILIAL MEDITERRANEAN FEVER, AD, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, MYOPATHY, MYOFIBRILLAR, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MYHRE SYNDROME, KARTAGENER SYNDROME, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, LOEYS-DIETZ SYNDROME 4, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, DYSAUTONOMIA, FAMILIAL, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, 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, ?MICROPHTHALMIA, SYNDROMIC 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, IMMUNODEFICIENCY 36, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, KABUKI SYNDROME 1, IMMUNODEFICIENCY, COMMON VARIABLE, 12, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, 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, PROTEUS SYNDROME, SOMATIC

TSC2, CYBA, DNAH11, LMNA, NAA10, CD3E, NDUFA11, PIGT, RPL5, FTL, NDUFA1, AGT, IRF7, CDK5, ASCC1, STT3B, DNAH14, DNAH5, KMT2A, EIF4A3, PIGC, STK11, NDUFS4, ENG, DST, ERBB4, PEX7, NDUFS8, NBN, POLE, NCF4, EFEMP2, MEFV, DNAI1, DNAI2, NDUFA12, CREBBP, PRKAG2, NDUFB9, IKBKAP, DYNC2H1, SF3B4, MUSK, ACTA1, TGFB2, ACVR1, KRAS, ERBB3, COPA, CASP8, NDUFAF1, SQSTM1, CHAMP1, CCDC114, TNF, TPM3, SDHC, TAF6, PIK3CD, GFPT1, MARS, CBL, SMARCE1, CCND1, NFKBIA, STAT1, KAT6B, CRYAB, NCF2, NDUFS2, CUL7, NDUFA2, ABCD4, NDUFA9, KLHL41, TP63, POLA1, NDUFA10, KAT6A, NDUFS7, PCCB, BMPR2, NCF1, NDUFB3, DNAH8, SMAD4, SNRPB, SDHD, MECP2, SUCLG1, HLA-DRB1, NFKB2, VHL, BCS1L, BMP2, AKT1, CYBB, INPPL1, PRKDC, FHL1, CFTR, WAS, EGFR, ATP1A3, MT-ND1, DCTN1, DNA2, GLI3, MCM4, DNAH1, DPM2, PTEN, MT-ND3, RUNX2, OCLN, NDUFV1, NDUFS3, FLNA, BIN1, NDUFS1, DPM1, SDHA, TGFB1, ATM, KMT2D, BRF1, NFKB1, STAT3, ORC1, CACNA1C, NOTCH1, PLG, NDUFV2, BLM, ITCH, CDKN1B, OFD1, MT-ND5, NDUFS6, FLNC, HRAS, POLG, DNMT3B, EPOR, IKBKB, RNF168, EXOC8, TSC1, BAP1, TUFM, GPD1L, CORO1A, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, IMMUNODEFICIENCY 15, GLYCOGEN STORAGE DISEASE IC, HYPER-IGE RECURRENT INFECTION SYNDROME, FRASER SYNDROME, PULMONARY ALVEOLAR MICROLITHIASIS, MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE, GLUTAMINE DEFICIENCY, CONGENITAL, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEUTZ-JEGHERS SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8, KAPPA LIGHT CHAIN DEFICIENCY, LYSINURIC PROTEIN INTOLERANCE, SELECTIVE T-CELL DEFECT, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, IMMUNODEFICIENCY, COMMON VARIABLE, 6, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CHILD SYNDROME, COACH SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, ?OSTEOGENESIS IMPERFECTA, TYPE X, PULMONARY VENOOCCLUSIVE DISEASE 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, TRIMETHYLAMINURIA, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AMYOTROPHIC LATERAL SCLEROSIS 19, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, METATROPIC DYSPLASIA, MYOPATHY, TUBULAR AGGREGATE, 1, HERMANSKY-PUDLAK SYNDROME 1, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RETT SYNDROME, CONGENITAL VARIANT, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, ?IMMUNODEFICIENCY 22, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, IMMUNODEFICIENCY 35, INSOMNIA, FATAL FAMILIAL, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ULNAR-MAMMARY SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, 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, GREENBERG SKELETAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 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}, RUBINSTEIN-TAYBI SYNDROME, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, FILS SYNDROME, JOUBERT SYNDROME 5, AURICULOCONDYLAR SYNDROME 1, PSEUDOHYPOALDOSTERONISM, TYPE I, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, TUBEROUS SCLEROSIS 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE, OPSISMODYSPLASIA, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SMITH-LEMLI-OPITZ SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, IMMUNODEFICIENCY 36, DONNAI-BARROW SYNDROME, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, 3-M SYNDROME 1, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, OSTEOGLOPHONIC DYSPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3, TIMOTHY SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, IMMUNODEFICIENCY 19, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, IMMUNODEFICIENCY 14, DUCHENNE MUSCULAR DYSTROPHY, NON-IMMUNE HYDROPS FETALIS, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, PRIMARY PULMONARY HYPERTENSION, 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, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, AGAMMAGLOBULINEMIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, HYPEREKPLEXIA 3, HERMANSKY-PUDLAK SYNDROME 7, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, WISKOTT-ALDRICH SYNDROME, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, FRENCH-CANADIAN TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, JOUBERT SYNDROME 8, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, DESBUQUOIS DYSPLASIA 2, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PULMONARY HYPERTENSION, PRIMARY, 3, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, JOUBERT SYNDROME-3, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MYASTHENIC SYNDROME, CONGENITAL, 16, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, IMMUNODEFICIENCY 11, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, ?IMMUNODEFICIENCY 37, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, PARAMYOTONIA CONGENITA, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CARDIOMYOPATHY, HYPERTROPHIC, 17, AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY, MUSCULAR DYSTROPHY, RIGID SPINE, 1, RESTRICTIVE DERMOPATHY, LETHAL, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VI, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, CUTIS LAXA, AD, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, AGAMMAGLOBULINEMIA 3, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C, JOUBERT SYNDROME 6, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, PALLISTER-HALL SYNDROME, TUMOR PREDISPOSITION SYNDROME, SICKLE CELL ANEMIA, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, POLYCYSTIC KIDNEY AND HEPATIC DISEASE, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, JOUBERT SYNDROME 20, NETHERTON SYNDROME, MYOPATHY WITH POSTURAL MUSCLE ATROPHY, X-LINKED, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, IMMUNODEFICIENCY, COMMON VARIABLE, 12, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

TSC2, CAV1, HBB, EDNRA, CD3D, NCF1, ADRB2, FMO3, LBR, STIM1, PIGT, PTH1R, GLI3, MS4A2, RPL5, F2, TBX3, AGT, IRF7, EIF4A3, GNAI3, LEP, CDK5, TREX1, ASCC1, RANBP2, UBA1, NSDHL, BTK, KCNH2, DDR2, G6PC3, PIGC, STK11, CFL2, FBN1, CBL, CCL11, EGR2, IGHM, ITGA3, SLC37A4, CASP8, COL1A1, DNM2, DES, UPK3A, PKHD1, SERPINH1, POR, AGRN, CYB5R3, ADCY6, ECM1, IL13, AARS2, CUL7, SF3B4, ERBB4, ACTA1, AIFM1, VRK1, MUC7, SCN4A, MYOM1, PLEC, ERBB3, MEGF10, SCNN1G, EGFR, TBK1, PGM1, TMEM231, CD79A, NOTCH1, GLUL, VMA21, DAG1, TNF, RYR1, FGFR1, SCNN1A, EDA, MOGS, LMNA, COL1A2, PIK3CD, BAP1, COPA, CNTNAP1, JAK2, EXOSC8, PLOD1, IL10, SMARCE1, COL2A1, CCND1, PROS1, IFNG, TAP1, SUCLA2, NKX2-1, SOX9, HSPD1, CD81, FKBP14, TMEM173, ALPL, ABCD4, ARSB, ACTA2, SLC7A7, TALDO1, SLC22A4, TP63, TUFM, DTNBP1, TYK2, PTPRC, SSR4, SNAP25, DMD, BMPR2, KCNA5, PTCH1, CAV3, EDN1, BANF1, GPC3, GLB1, VHL, GJA1, TNPO3, ACE, SMAD4, ATP5A1, AGTR1, SCNN1B, SMAD9, JPH2, CEP290, RAPSN, HLA-DRB1, KRAS, GRIP1, CASR, CNTN1, CTSD, CHRNA1, PQBP1, BMP2, BCS1L, SLC34A2, CHRNE, ALOX5, TRIM2, POMK, FLNA, NDN, AKT1, CYBA, FZD6, TPI1, FHL1, MRPL3, LRPPRC, WAS, ETFA, SEC63, LRP2, ATP1A3, HFE, IKBKB, IGKC, DCTN1, ELN, POMT2, HLA-G, DSG1, DPM2, MPDU1, KCNQ2, PTEN, TRPV4, HAMP, SCGB1A1, BCL10, TAPBP, RUNX2, SELP, AHI1, LCK, SERPINC1, DSP, JAGN1, SLC6A5, KCNQ1, ZAP70, BIN1, SPINK5, B2M, CYBB, SLC12A6, SEPN1, INPPL1, DPM1, DHCR7, PRNP, XYLT1, FOXG1, SCN5A, PIP5K1C, CFTR, FGF10, TGFB1, IER3IP1, STAT1, NFKB1, STAT3, MT-CO2, CACNA1C, EBP, CARD11, PLG, POLE, CEP57, DST, NDUFB9, CREBBP, TINF2, SGCG, ZMPSTE24, BDNF, PIEZO1, DPAGT1, RET, GALNT14, SYNE2, HRAS, TMEM67, ARL13B, ADA, OCLN, MYH11, HSPG2, TSC1, SHH, TAP2, KIF1BP, PIGN, PIK3R1

BASAL CELL NEVUS SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SELECTIVE T-CELL DEFECT, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MELNICK-NEEDLES SYNDROME, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, MYHRE SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, METATROPIC DYSPLASIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, IMMUNODEFICIENCY 35, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {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, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, DYSKERATOSIS CONGENITA, X-LINKED, FRONTOMETAPHYSEAL DYSPLASIA, PRIMARY PULMONARY HYPERTENSION, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PSEUDOHYPOALDOSTERONISM, TYPE I, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, TUBEROUS SCLEROSIS 2, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MYOKYMIA, SEIZURES, BENIGN NEONATAL, 1, TIMOTHY SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, DUCHENNE MUSCULAR DYSTROPHY, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, WISKOTT-ALDRICH SYNDROME, 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, HYPERPARATHYROIDISM, NEONATAL, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, PULMONARY HYPERTENSION, PRIMARY, 3, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, RENAL ADYSPLASIA, FEINGOLD SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, PALLISTER-HALL SYNDROME, ?MYASTHENIC SYNDROME, CONGENITAL, 17, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, IMMUNODEFICIENCY, COMMON VARIABLE, 12, LOEYS-DIETZ SYNDROME 4, SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, PROTEUS SYNDROME, SOMATIC

TSC2, CAV1, LRP4, NCF1, ADRB2, SQSTM1, RPL5, CYBA, AGT, CDK5, UBA1, EDN1, KCNH2, GJA1, BTK, B2M, EGR2, DNM2, POR, CREBBP, CNTNAP1, SF3B4, ERBB4, ACTA1, VRK1, TGFB2, KRAS, IL10, CASP8, SERPINA1, ADCY6, NOTCH1, MYCN, DAG1, TNF, RYR1, SCNN1A, LEP, IFNG, CBL, CCND1, AGRN, PTH1R, MPC1, GDNF, HSPD1, WAS, TYK2, PAM16, NDUFS7, BMPR2, KCNA5, PTCH1, CAV3, REN, SMAD4, AGTR1, PURA, SMAD9, STAT1, LRP5, CASR, DMD, RAPSN, BMP2, AKT1, PLEC, SLC5A7, ASCL1, LRP2, TBX21, GLI3, KCNQ2, GNE, PEX5, TRPV4, MUSK, ACVRL1, TUBB4A, POLA1, FLNA, KCNQ1, CYBB, TGFB1, SOST, SCN5A, NFKB1, DKC1, CACNA1C, CDKN1B, BDNF, RET, CHAT, SNAP25, HRAS, EGFR, ADA, OCLN, ZAP70, JAK2, GATA2, SHH

PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, POLYCYSTIC LIVER DISEASE, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, TRIFUNCTIONAL PROTEIN DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, DONNAI-BARROW SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, PRIMARY PULMONARY HYPERTENSION, RESTRICTIVE DERMOPATHY, LETHAL, GREENBERG SKELETAL DYSPLASIA, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY, LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY, LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY, ?LEIGH SYNDROME, LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY, LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, PULMONARY VENOOCCLUSIVE DISEASE 1, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), AURICULOCONDYLAR SYNDROME 3, TUBEROUS SCLEROSIS 2, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, FANCONI ANEMIA, COMPLEMENTATION GROUP L, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, IMMUNODEFICIENCY 36

ACTA1, TUFM, SOX9, TREX1, PLEC, CAV3, SDHD, LBR, SDHA, LMNA, NAGLU, HADHB, ALOX5, TSC2, EDN1, KCNH2, NDUFB9, BMPR2, DSP, PLCG2, DNASE1, DST, SEC63, DNM2, SYNE2, HRAS, FANCL, LRP2, SCGB1A1, POLA1, CNTNAP1, RUNX2, PIK3R1

BASAL CELL NEVUS SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, GLUTAMINE DEFICIENCY, CONGENITAL, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, LYSINURIC PROTEIN INTOLERANCE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, MYHRE SYNDROME, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, HYPOPHOSPHATASIA, INFANTILE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28, OTOPALATODIGITAL SYNDROME, TYPE II, COENZYME Q10 DEFICIENCY, PRIMARY, 7, AURICULOCONDYLAR SYNDROME 3, RENAL TUBULAR DYSGENESIS, CEREBROTENDINOUS XANTHOMATOSIS, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, VLCAD DEFICIENCY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, GREENBERG SKELETAL DYSPLASIA, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, 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}, ?COENZYME Q10 DEFICIENCY, PRIMARY, 8, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), SMITH-LEMLI-OPITZ SYNDROME, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, IMMUNODEFICIENCY 36, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, PARAGANGLIOMAS 3, OSTEOGLOPHONIC DYSPLASIA, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ?IMMUNODEFICIENCY 37, NESTOR-GUILLERMO PROGERIA SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, ATAXIA-TELANGIECTASIA, TRIFUNCTIONAL PROTEIN DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, COENZYME Q10 DEFICIENCY, PRIMARY, 5, AURICULOCONDYLAR SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, INSOMNIA, FATAL FAMILIAL, ?SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2, MYASTHENIC SYNDROME, CONGENITAL, 16, IMMUNODEFICIENCY 11, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, SENGERS SYNDROME, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CPT DEFICIENCY, HEPATIC, TYPE II, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), HYPOMYELINATION, GLOBAL CEREBRAL, HEREDITARY MOTOR AND SENSORY NEUROPATHY VIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CPT II DEFICIENCY, LETHAL NEONATAL, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

AGK, COQ9, CPT2, SDHC, MFN2, NDUFA11, CYP27A1, COQ7, FTL, NDUFA1, AGT, IRF7, GNAI3, CDK5, ASCC1, EDN1, GJA1, TK2, COX6B1, MT-ATP6, DNM2, MT-CO3, COX20, COX8A, SMAD4, ETFDH, CYB5R3, PTCH1, SOX9, NDUFAF3, NDUFAF6, LBR, COQ4, CPOX, TNF, FGFR1, MT-ND6, LEP, HADHA, AIFM1, NDUFAF4, CCND1, SUCLA2, MPC1, HSPD1, RUNX2, NDUFA2, TMEM173, NDUFA9, TNNT2, SLC7A7, COX14, TP63, NDUFA10, MT-CO1, BANF1, ALPL, NDUFB3, NDUFS3, SCO2, NDUFA12, BCS1L, SDHD, NDUFS7, TMEM70, AKT1, SLC5A7, SLC25A26, CARD11, ETFA, EGFR, ATP5A1, MT-ND1, COX15, CASP8, MCCC1, ACTA2, PEX5, ECHS1, COX10, MT-ND3, NDUFV1, SSR4, FLNA, SDHA, NDUFS1, SLC25A20, DHCR7, PRNP, BCL10, PRKCSH, ATM, REN, MT-CO2, SCO1, NDUFS4, NDUFV2, SLC25A1, NDUFB9, SUCLG1, NDUFS8, GLUL, MT-ND5, FBN1, ACADVL, POLG, NDUFS6, NHP2, SLC25A12, NDUFS2, TINF2, TUFM, HADHB, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, POLYCYSTIC LIVER DISEASE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, GLUTAMINE DEFICIENCY, CONGENITAL, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, D-2-HYDROXYGLUTARIC ACIDURIA, MYHRE SYNDROME, METHYLMALONIC ACIDURIA CBLB TYPE, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, RENAL TUBULAR DYSGENESIS, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, AMYOTROPHIC LATERAL SCLEROSIS 19, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, OPSISMODYSPLASIA, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, VLCAD DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), PRADER-WILLI SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, COENZYME Q10 DEFICIENCY, PRIMARY, 7, 2-METHYLBUTYRYLGLYCINURIA, PROPIONICACIDEMIA, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CODAS SYNDROME, EPILEPSY, PYRIDOXINE-DEPENDENT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, ENCEPHALOPATHY, NEONATAL SEVERE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, 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, BIOTINIDASE DEFICIENCY, PROTEUS SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, CEREBROTENDINOUS XANTHOMATOSIS, AMYOTROPHIC LATERAL SCLEROSIS 17

PEX5, TUFM, CAV3, YARS2, REN, NDUFS3, MMAB, SMAD4, CYP27A1, SMAD9, MECP2, ALDH7A1, GLUL, ACADSB, IARS2, PCCB, NARS2, D2HGDH, MT-CO2, LEP, BTD, SNRPN, PCCA, HADHA, SUCLG1, INPPL1, NDUFS1, LONP1, TINF2, COQ4, ETFA, SEC63, CA5A, ATP5A1, TRMT5, EPOR, SUCLA2, CHMP2B, HSPD1, AKT1, MCCC1, RARS2, NDUFA9, SARS2, RYR1, MCCC2, ERBB4, ECHS1, NAGS, ACADVL, ETFB, MMAA, STAT3, GFPT1, TK2, NDUFA10, LYRM4, ETFDH, LYRM7

MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, PULMONARY HYPERTENSION, PRIMARY, 3, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, FIBROCHONDROGENESIS 2, BASAL CELL NEVUS SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, POLYCYSTIC LIVER DISEASE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MYASTHENIC SYNDROME, CONGENITAL, 5, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, ?MYOSCLEROSIS, CONGENITAL, ?OSTEOGENESIS IMPERFECTA, TYPE X, PULMONARY VENOOCCLUSIVE DISEASE 1, ?TETRA-AMELIA SYNDROME, SED CONGENITA, KNIEST DYSPLASIA, MYOTUBULAR MYOPATHY, X-LINKED, PRIMARY PULMONARY HYPERTENSION, ?IMMUNODEFICIENCY 39, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 19, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, 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, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, PRADER-WILLI SYNDROME, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, BETHLEM MYOPATHY 1, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, IMMUNODEFICIENCY 43, RENAL TUBULAR DYSGENESIS, EHLERS-DANLOS SYNDROME, TYPE IV, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SERKAL SYNDROME, PROTEUS SYNDROME, SOMATIC

CAV3, CAV1, PROC, GJA1, CBL, CIITA, SERPINA1, NOTCH1, COL6A2, PRKCSH, CD79A, WNT3, COL3A1, COL1A1, IRF7, GMPPB, F2, LEP, AGT, TGFB1, COL11A2, SOX9, VHL, BMP2, COL5A1, EDA, COLQ, COL5A2, PLG, NDN, AKT1, EGR2, CCND1, B2M, COL6A3, NAGLU, WT1, CDKN1B, SEC63, PDGFRA, BDNF, SUFU, DNM2, COL1A2, SERPINH1, FKBP14, ARSB, WNT4, COL13A1, PTEN, MYH11, COL6A1, HSPG2, TNF, STAT3, DDR2, SHH, COL2A1, SSR4, MUSK, BMPR2

HYPER-IGE RECURRENT INFECTION SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, DESBUQUOIS DYSPLASIA 2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, PULMONARY VENOOCCLUSIVE DISEASE 1, STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET, AMYOTROPHIC LATERAL SCLEROSIS 19, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MYOPATHY, TUBULAR AGGREGATE, 1, HERMANSKY-PUDLAK SYNDROME 1, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, NEUROPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), ?IMMUNODEFICIENCY 22, GREENBERG SKELETAL DYSPLASIA, JOUBERT SYNDROME 6, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, METHEMOGLOBINEMIA, TYPE II, METHEMOGLOBINEMIA, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2, 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, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, PRIMARY PULMONARY HYPERTENSION, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, KAPPA LIGHT CHAIN DEFICIENCY, PRADER-WILLI SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, SMITH-LEMLI-OPITZ SYNDROME, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME, IMMUNODEFICIENCY 36, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, COACH SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, ?IMMUNODEFICIENCY 37, TIMOTHY SYNDROME, MUSCULAR DYSTROPHY, CONGENITAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, IMMUNODEFICIENCY, COMMON VARIABLE, 6, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, AGAMMAGLOBULINEMIA 1, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, GLYCOGEN STORAGE DISEASE IC, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, CHILD SYNDROME, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, HEMOCHROMATOSIS TYPE 1, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, TRIMETHYLAMINURIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, CARDIOMYOPATHY, HYPERTROPHIC, 17, MUSCULAR DYSTROPHY, RIGID SPINE, 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, DURSUN SYNDROME, NEUTROPENIA, SEVERE CONGENITAL 4, AUTOSOMAL RECESSIVE, MYHRE SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, RENAL ADYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VI, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, TUMOR PREDISPOSITION SYNDROME, SICKLE CELL ANEMIA, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, NETHERTON SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, HERMANSKY-PUDLAK SYNDROME 7, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, CEROID LIPOFUSCINOSIS, NEURONAL, 10, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

TSC2, RPL5, CAV1, HBB, PROS1, LMNA, ADRB2, FMO3, LBR, PIGT, TAP1, F2, AGT, IRF7, LEP, AGTR1, TREX1, VMA21, EDN1, BTK, G6PC3, PIGC, STK11, DST, IGHM, SLC37A4, DES, POR, CYB5R3, TBK1, CD81, ERBB4, PLOD1, KRAS, ERBB3, CBL, EGFR, SPINK5, NOTCH1, TNF, RYR1, EDA, MOGS, CFL2, COPA, AIFM1, MEGF10, CCND1, IFNG, HLA-DRB1, TGFB1, BAP1, FKBP14, TMEM173, POMT2, ACTA2, TP63, SNAP25, IGKC, BMPR2, TUFM, CAV3, STIM1, DPAGT1, ALPL, GJA1, TNPO3, SMAD4, CDK5, JPH2, STAT1, CASR, CNTN1, CTSD, BCS1L, ALOX5, TRIM2, POMK, NDN, AKT1, TAPBP, MRPL3, CFTR, WAS, ETFA, SEC63, LRP2, ATP5A1, DCTN1, ABCD4, NSDHL, DPM2, PIGN, PTEN, HAMP, EIF4A3, RUNX2, LCK, SSR4, JAGN1, FLNA, B2M, SEPN1, DPM1, DHCR7, XYLT1, DTNBP1, BCL10, IER3IP1, UPK3A, STAT3, MT-CO2, CACNA1C, EBP, PLG, RANBP2, TINF2, ZMPSTE24, PIEZO1, RET, SYNE2, HRAS, TMEM67, MPDU1, SELP, ZAP70, HSPG2, PIK3R1, TAP2, HFE, ARSB, SHH

TUBEROUS SCLEROSIS 2, 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}

IL10, IFNG, HLA-DRB1, B2M, HFE, HLA-G

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, IMMUNODEFICIENCY 15, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, CHONDRODYSPLASIA, BLOMSTRAND TYPE, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AMYOTROPHIC LATERAL SCLEROSIS 19, METATROPIC DYSPLASIA, HERMANSKY-PUDLAK SYNDROME 1, HYPOPHOSPHATASIA, INFANTILE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, FRASER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, IMMUNODEFICIENCY 43, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL TUBULAR DYSGENESIS, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, IMMUNODEFICIENCY 35, LEUKODYSTROPHY, HYPOMYELINATING, 4, ULNAR-MAMMARY SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CD8 DEFICIENCY, FAMILIAL, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE, IMMUNODEFICIENCY 19, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5, ?CANDIDIASIS, FAMILIAL, 5, AUTOSOMAL RECESSIVE, RHEUMATOID ARTHRITIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, ?TETRA-AMELIA SYNDROME, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], TUBEROUS SCLEROSIS 2, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, OSTEOGLOPHONIC DYSPLASIA, AGAMMAGLOBULINEMIA 6, TIMOTHY SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE II, DUCHENNE MUSCULAR DYSTROPHY, SED CONGENITA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, MELNICK-NEEDLES SYNDROME, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, IMMUNODEFICIENCY, COMMON VARIABLE, 7, {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, PULMONARY HYPERTENSION, PRIMARY, 3, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC, POLYCYSTIC LIVER DISEASE, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO ITGA7 DEFICIENCY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ESCOBAR SYNDROME, GELEOPHYSIC DYSPLASIA 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, RENAL ADYSPLASIA, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, IMMUNODEFICIENCY, COMMON VARIABLE, 3, CROUZON SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, AGAMMAGLOBULINEMIA 3, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, FEINGOLD 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, LOEYS-DIETZ SYNDROME 4, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, HERMANSKY-PUDLAK SYNDROME 7, PROTEUS SYNDROME, SOMATIC

CAV1, CD3D, ADRB2, CHRNG, CD8A, COL1A2, F2, TBX3, AGT, IGKC, CDK5, ITGA8, BTK, IL4R, ENG, ITGA3, AGRN, CREBBP, CD79B, COL2A1, CD81, SF3B4, ERBB4, CSF2RB, GRIP1, ERBB3, CBL, CASP8, CD79A, SQSTM1, NOTCH1, MYCN, TNF, FGFR1, CD3E, LEP, IFNG, IL10, JAK2, PTH1R, NKX2-1, HSPD1, ACVR1, TYK2, SNAP25, ALPL, REN, TGFB2, AGTR1, STAT1, LRP5, CASR, CNTN1, DMD, CHRNA1, BMP2, AKT1, PRKDC, CFTR, LRP2, FBN1, IKBKB, PTEN, TRPV4, MUSK, CHRND, STAT3, LCK, FLNA, CHRNE, ZAP70, B2M, IL17RA, WNT3, TGFB1, DTNBP1, TP63, CACNA1C, CD19, IL13, FGFR2, PTPRC, CD3G, BDNF, RET, CHRNB1, HRAS, EGFR, ITGA7, SELP, MYH11, CR2, PIK3R1, PORCN, SHH

BASAL CELL NEVUS SYNDROME, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, IMMUNODEFICIENCY 15, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8, HYPER-IGE RECURRENT INFECTION SYNDROME, GAUCHER DISEASE, PERINATAL LETHAL, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, CEREBROCOSTOMANDIBULAR SYNDROME, ANGIOEDEMA, HEREDITARY, TYPE III, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, ?OSTEOGENESIS IMPERFECTA, TYPE X, MYHRE SYNDROME, PULMONARY VENOOCCLUSIVE DISEASE 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, AMYOTROPHIC LATERAL SCLEROSIS 19, MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTROPHY, ALPHA-B CRYSTALLIN-RELATED, MUCOPOLYSACCHARIDOSIS IS, MYASTHENIC SYNDROME, CONGENITAL, 19, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, SICKLE CELL ANEMIA, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, CILIARY DYSKINESIA, PRIMARY, 6, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), COENZYME Q10 DEFICIENCY, PRIMARY, 7, PROPIONICACIDEMIA, APLASIA OF LACRIMAL AND SALIVARY GLANDS, THROMBOPHILIA DUE TO THROMBIN DEFECT, {THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOEMBOLISM, SUSCEPTIBILITY TO}, {VENOUS THROMBOSIS, PROTECTION AGAINST}, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, IMMUNODEFICIENCY 43, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, ?IMMUNODEFICIENCY 22, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, GLUTAMINE DEFICIENCY, CONGENITAL, CEREBROTENDINOUS XANTHOMATOSIS, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, VLCAD DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, DYSTONIA 27, MUCOPOLYSACCHARIDOSIS II, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, {ATOPY, SUSCEPTIBILITY TO}, [IGE, ELEVATED LEVEL OF], ATOPY, {ATOPY, RESISTANCE TO}, [IGE LEVELS QTL], RENAL TUBULAR DYSGENESIS, PRIMARY PULMONARY HYPERTENSION, MYASTHENIC SYNDROME, CONGENITAL, 5, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, RHEUMATOID ARTHRITIS, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), ?TETRA-AMELIA SYNDROME, BETHLEM MYOPATHY 1, MUCOPOLYSACCHARIDOSIS IH, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OPSISMODYSPLASIA, TUBEROUS SCLEROSIS 2, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, COMBINED SAP DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 2, EPILEPSY, PYRIDOXINE-DEPENDENT, MYOPATHY, MYOFIBRILLAR, 5, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, GAUCHER DISEASE, TYPE I, SERKAL SYNDROME, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, NON-IMMUNE HYDROPS FETALIS, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, KAPPA LIGHT CHAIN DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT, MUSCULAR DYSTROPHY, CONGENITAL, TRIFUNCTIONAL PROTEIN DEFICIENCY, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, OSTEOGENESIS IMPERFECTA, TYPE II, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE), VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, METHYLMALONIC ACIDURIA CBLB TYPE, ?MYOSCLEROSIS, CONGENITAL, FABRY DISEASE, FABRY DISEASE, CARDIAC VARIANT, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, SED CONGENITA, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, MUCOPOLYSACCHARIDOSIS TYPE IIID, [HEX A PSEUDODEFICIENCY], GM2-GANGLIOSIDOSIS, SEVERAL FORMS, TAY-SACHS DISEASE, NIEMANN-PICK DISEASE, TYPE A, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, RESTRICTIVE DERMOPATHY, LETHAL, AGAMMAGLOBULINEMIA 1, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY, MUCOPOLYSACCHARIDOSIS IH/S, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, CORNELIA DE LANGE SYNDROME 1, PULMONARY HYPERTENSION, PRIMARY, 3, NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, NEUROPATHY, CONGENITAL HYPOMYELINATING, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, {SARCOIDOSIS, SUSCEPTIBILITY TO, 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, KRABBE DISEASE, ATYPICAL, BIOTINIDASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AMYOTROPHIC LATERAL SCLEROSIS 17, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT, ANGIOEDEMA, HEREDITARY, TYPES I AND II, FIBROCHONDROGENESIS 2, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, MUCOPOLYSACCHARIDOSIS, MPS-III-A, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, MYOPATHY, MYOFIBRILLAR, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, D-2-HYDROXYGLUTARIC ACIDURIA, EHLERS-DANLOS SYNDROME, TYPE IV, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, EHLERS-DANLOS SYNDROME, TYPE VI, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, AGAMMAGLOBULINEMIA 3, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, PALLISTER-HALL SYNDROME, FARBER LIPOGRANULOMATOSIS, 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, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, 2-METHYLBUTYRYLGLYCINURIA, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, IMMUNODEFICIENCY 36, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CODAS SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, GAUCHER DISEASE, TYPE II, 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, MUCOPOLYSACCHARIDOSIS IVA, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, PROTEUS SYNDROME, SOMATIC

LMNA, NEU1, CAV1, HBB, PROS1, CDK5, PRSS1, COL1A1, AGRN, CYP27A1, CIITA, COL3A1, TAP1, FTL, F2, GUSB, AGT, PCCB, MUC5B, LEP, AGTR1, COLQ, MCCC2, DDR2, TK2, PAX8, B2M, PLG, CBL, EGR2, IGHM, WT1, ARSB, NAGS, SUFU, DNM2, NFKBIA, SERPINH1, GALNS, COL13A1, HADHA, SERPING1, CREBBP, COL2A1, TRMT5, ETFDH, SF3B4, ERBB4, ACTA1, AIFM1, VRK1, TGFB2, F13A1, GJA1, ERBB3, DSP, SERPINA1, COL6A2, IDS, NOTCH1, ALDH7A1, GLUL, DAG1, COL6A1, TNF, GNS, LYRM7, ASAH1, EDA, TAF6, BTD, COL1A2, CPOX, GFPT1, IFNG, PLOD1, IL10, COL11A2, LONP1, CCND1, JAK2, RPL5, SUCLA2, NKX2-1, CRYAB, SGSH, NDUFS2, HSPD1, FKBP14, CASR, ACTA2, RYR1, ACADVL, TP63, TUFM, NDUFA10, PAM16, NDUFS3, IRF7, BMPR2, COQ4, PTCH1, CAV3, FLNC, GLB1, HEXA, VHL, REN, IL2RA, ACE, MMAB, SMAD4, COL5A1, SMPD1, SMAD9, MECP2, SUCLG1, HLA-DRB1, GMPPB, LRP5, IARS2, CTSD, SOX9, NARS2, PEX5, RAPSN, BMP2, SSR4, NDN, AKT1, INPPL1, NDUFS1, MRPL3, CFTR, ETFA, SEC63, LRP2, ATP5A1, IKBKB, IGKC, CHMP2B, GLI3, MUC7, MCCC1, SCGB3A2, NDUFA9, ACADSB, PTEN, ECHS1, MUSK, MMAA, SCGB1A1, NME8, IDUA, COL6A3, LYRM4, RUNX2, SELP, LCK, SERPINC1, FLNA, PSAP, JAGN1, PRKCSH, TGFB1, WNT3, COL5A2, NAGLU, AP3B1, FGF10, CD79A, ETFB, STAT1, STAT3, MT-CO2, D2HGDH, YARS2, PCCA, IL13, GBA, CDKN1B, GLA, CA5A, PDGFRA, SNRPN, BDNF, SNRPB, GPC3, F12, SYNE2, HRAS, EGFR, RARS2, WNT4, SARS2, ADA, EPOR, MYH11, PROC, HSPG2, PEX7, PIK3R1, TINF2, HFE, GATA2, SHH

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, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY

NDUFA10, NDUFS1, NDUFS6, NDUFA9, NDUFA1, NDUFB9, NDUFB3, NDUFA12, NDUFS8, MT-ND1, NDUFS3, MT-ND5, NDUFV1, NDUFAF1, NDUFA11, NDUFS2, NDUFV2, NDUFS7, NDUFS4, MT-ND3, NDUFA2

HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME, BASAL CELL NEVUS SYNDROME, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, THANATOPHORIC DYSPLASIA, TYPE II, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, LETHAL CONGENITAL CONTRACTURAL SYNDROME 3, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 21, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, PEUTZ-JEGHERS SYNDROME, NESTOR-GUILLERMO PROGERIA SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4, NON-IMMUNE HYDROPS FETALIS, THANATOPHORIC DYSPLASIA, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, SELECTIVE T-CELL DEFECT, TARP SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, 3-M SYNDROME 1, CUTIS LAXA, AD, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, NIJMEGEN BREAKAGE SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, WITH BARTTER SYNDROME, HYPOCALCEMIA, AUTOSOMAL DOMINANT, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5, BLOOM SYNDROME, CEREBROCOSTOMANDIBULAR SYNDROME, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, MELNICK-NEEDLES SYNDROME, ?IMMUNODEFICIENCY 39, INTERSTITIAL LUNG AND LIVER DISEASE, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, 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, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIJ, 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, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, HERMANSKY-PUDLAK SYNDROME 1, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, HYPOPHOSPHATASIA, INFANTILE, HEMOCHROMATOSIS TYPE 1, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FAMILIAL MEDITERRANEAN FEVER, AR, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 6, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DUANE-RADIAL RAY SYNDROME, CENTRONUCLEAR MYOPATHY 5, 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, SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1, DIAPHANOSPONDYLODYSOSTOSIS, RENAL TUBULAR DYSGENESIS, ?IMMUNODEFICIENCY 22, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, SADDAN, IMMUNODEFICIENCY 35, SMITH-LEMLI-OPITZ SYNDROME, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, PONTOCEREBELLAR HYPOPLASIA TYPE 4, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, {SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO}, {LUPUS NEPHRITIS, SUSCEPTIBILITY TO}, {SYSTEMIC LUPUS ERYTHEMATOSUS SUSCEPTIBILITY TO}, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, VLCAD DEFICIENCY, {ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO}, ASTHMA AND NASAL POLYPS, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ULNAR-MAMMARY SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, PERRY SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT, GREENBERG SKELETAL DYSPLASIA, FEINGOLD SYNDROME, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2R, HEART BLOCK, PROGRESSIVE, TYPE IA, HEART BLOCK, NONPROGRESSIVE, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, IMMUNODEFICIENCY, COMMON VARIABLE, 10, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, KABUKI SYNDROME 1, DIAMOND-BLACKFAN ANEMIA 6, {ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO}, {ASTHMA, PROTECTION AGAINST}, {ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN}, {ASTHMA, SUSCEPTIBILITY TO}, {ASTHMA}, DYSKERATOSIS CONGENITA, X-LINKED, FRASER SYNDROME, URBACH-WIETHE DISEASE, FRONTOMETAPHYSEAL DYSPLASIA, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, AGNATHIA-OTOCEPHALY COMPLEX, RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1, FILS SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, TRIFUNCTIONAL PROTEIN DEFICIENCY, PSEUDOHYPOALDOSTERONISM, TYPE I, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, RHEUMATOID ARTHRITIS, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, KRABBE DISEASE, ATYPICAL, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, OPITZ GBBB SYNDROME, TYPE II, PRADER-WILLI SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, 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, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, DIAMOND-BLACKFAN ANEMIA 10, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, MYOPATHY, MYOFIBRILLAR, 5, OMENN SYNDROME, {MESOTHELIOMA, SOMATIC}, MESOTHELIOMA, SOMATIC, {PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO}, {PANCREATITIS, CHRONIC, PROTECTION AGAINST}, {PANCREATITIS, IDIOPATHIC}, PANCREATITIS, HEREDITARY, PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER), IMMUNODEFICIENCY 36, IMMUNODEFICIENCY, COMMON VARIABLE, 6, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, PRIMARY PULMONARY HYPERTENSION, BEARE-STEVENSON CUTIS GYRATA SYNDROME, SHWACHMAN-DIAMOND SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2, COACH SYNDROME, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, 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, ?IMMUNODEFICIENCY 37, MICROPHTHALMIA, SYNDROMIC 12, SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, MENTAL RETARDATION, AUTOSOMAL DOMINANT 40, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, MUSCULAR DYSTROPHY, CONGENITAL, ATAXIA-TELANGIECTASIA, MYASTHENIC SYNDROME, CONGENITAL, 5, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, {ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUSCEPTIBILITY TO}, VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY, {SUDDEN INFANT DEATH SYNDROME, SUSCEPTIBILITY TO}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, HEMOLYTIC ANEMIA DUE TO TRIOSEPHOSPHATE ISOMERASE DEFICIENCY, MEIER-GORLIN SYNDROME 3, IMMUNODEFICIENCY 8, AURICULOCONDYLAR SYNDROME 1, CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, PONTOCEREBELLAR HYPOPLASIA TYPE 1A, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, WISKOTT-ALDRICH SYNDROME, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC, ?MYASTHENIC SYNDROME, CONGENITAL, 18, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), LEIGH SYNDROME, FRENCH-CANADIAN TYPE, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, MEIER-GORLIN SYNDROME 2, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, CEREBELLOFACIODENTAL SYNDROME, IMMUNODEFICIENCY 15, SECKEL SYNDROME 9, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, {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, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, FANCONI ANEMIA, COMPLEMENTATION GROUP L, COMBINED SAP DEFICIENCY, MEIER-GORLIN SYNDROME 4, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, BIOTINIDASE DEFICIENCY, DYSTONIA 6, TORSION, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AMYOTROPHIC LATERAL SCLEROSIS 17, CHOPS SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 21, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, SED CONGENITA, MYOPATHY, MYOFIBRILLAR, 6, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL DOMINANT, RENPENNING SYNDROME, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OPITZ-KAVEGGIA SYNDROME, VELOCARDIOFACIAL SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, FAMILIAL MEDITERRANEAN FEVER, AD, CPT DEFICIENCY, HEPATIC, TYPE II, PLEUROPULMONARY BLASTOMA, AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE, RESTRICTIVE DERMOPATHY, LETHAL, MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, MYOPATHY, MYOFIBRILLAR, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, MYHRE SYNDROME, ?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, RETT SYNDROME, CONGENITAL VARIANT, TUBEROUS SCLEROSIS 2, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, {AUTOIMMUNE INTERSTITIAL LUNG, JOINT, AND KIDNEY DISEASE}, CROUZON SYNDROME, IMMUNODEFICIENCY 14, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, DYSAUTONOMIA, FAMILIAL, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, JOUBERT SYNDROME 6, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PALLISTER-HALL SYNDROME, TUMOR PREDISPOSITION SYNDROME, GENITOPATELLAR SYNDROME, BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, {BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF}, MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE, APERT SYNDROME, ?MICROPHTHALMIA, SYNDROMIC 1, CILIARY DYSKINESIA, PRIMARY, 29, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6, 2-METHYLBUTYRYLGLYCINURIA, MEIER-GORLIN SYNDROME 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, CPT II DEFICIENCY, LETHAL NEONATAL, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, IMMUNODEFICIENCY, COMMON VARIABLE, 12, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, LOEYS-DIETZ SYNDROME 4, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, PULMONARY VENOOCCLUSIVE DISEASE 2, HERMANSKY-PUDLAK SYNDROME 7, PROTEUS SYNDROME, SOMATIC

PEX5, TSC2, PHOX2B, NEU1, CAV1, TREX1, EDNRA, TSPYL1, CDK5, TRAIP, NCF1, COL1A1, CPT2, SCNN1A, LBR, PIGT, KRAS, CIITA, PEX6, MID1, RPL5, FTL, HLCS, TBX3, RNASEH1, TERT, IRF7, THAP1, TARDBP, AGTR1, MARS, COLQ, DKC1, ZBTB42, UBA1, EDN1, BTK, KCNH2, GJA1, TRIP4, PAX8, B2M, STK11, CFL2, DNASE1, CBL, SDHA, DST, WT1, EFEMP2, IKBKAP, PEX7, FBP1, ADRB2, DNM2, NFKBIA, CDT1, NBN, POLE, PIP5K1C, SIX3, BMPER, CD81, MEFV, HADHA, SBDS, ALPL, NAA10, ADCY6, IKBKB, MECP2, PRKAG2, BAG3, BLM, COL2A1, DNMT3B, SPECC1L, SF3B4, PTEN, RARB, ACTA1, VRK1, RPS28, GRIP1, IL1RN, FBLN5, NFKB2, ERBB3, DSP, ELN, EGFR, TBK1, IRF5, VHL, SQSTM1, CHAMP1, SUFU, PARN, DCLRE1C, DAG1, TNF, GATA2, FGFR1, ECM1, CD3E, TAF6, LMNA, BTD, COL1A2, PIK3CD, CPOX, COPA, AFF4, GFPT1, JAK2, EXOSC8, AIFM1, MEGF10, SMARCE1, CNTNAP1, CCND1, TALDO1, IFNG, RBM10, TAP1, SUCLA2, GNAI3, NKX2-1, NAGLU, ZMPSTE24, NCF2, NDUFS2, F2, HSPD1, CUL7, RSPH4A, UBN1, EFTUD2, ACTA2, ACADSB, AICDA, SPEG, ACADVL, AGT, TP63, KMT2A, DTNBP1, TBX1, TGFB2, DNA2, KAT6B, SNAP25, BIN1, MATR3, BMPR2, KCNA5, FCGR2A, CAV3, BANF1, RET, SETBP1, SHH, REN, ETFA, GLE1, BLNK, SMAD4, ATP5A1, SNRPB, DNAJB6, F13A1, PURA, SMAD9, GDNF, SNIP1, PRRX1, HLA-DRB1, GMPPB, FLNA, CASR, LEP, PCK1, SOX9, PQBP1, ALOX5, BCS1L, ACVR1, RAPSN, TSEN54, BMP2, TRIM2, SSR4, NDN, AKT1, EIF2AK4, PLEC, TPI1, PRKDC, NDUFS1, MRPL3, LRPPRC, WAS, MED12, BAP1, SEC63, TMEM67, COG4, TUFM, LRP2, TBX21, DCTN1, CASP8, CHMP2B, GLI3, FBN2, MCM4, NIPBL, ITCH, TTN, SARS2, KCNQ2, ORC1, ERBB4, FGFR3, SCGB1A1, SFTPC, EIF4A3, TUBB4A, RUNX2, OCLN, POLA1, LCK, DDX41, CCNO, CORO1A, KCNQ1, ZAP70, PSAP, FBN1, MYH7, CYBB, INPPL1, IL10, JAGN1, DHCR7, ASCL1, PRKCSH, TGFB1, FOXG1, ATM, CREBBP, KMT2D, CFTR, BRF1, RPS26, FGF10, BCL10, DICER1, STAT1, NFKB1, STAT3, MT-CO2, TPM3, ORC6, TCF4, NOTCH1, PLG, NDUFV2, RANBP2, NDUFB9, SCN5A, FGFR2, PLCG2, TYK2, SALL4, CDKN1B, MYCN, CRYAB, SNRPN, BDNF, SOX18, FLNC, SPG11, ARX, ORC4, FOXF1, KAT6A, HRAS, FANCL, EXOSC3, SFTPB, ADA, NHP2, MYH11, ARID1B, HSPG2, EXOC8, TSC1, PIK3R1, TINF2, SYNE2, NOP10, RYR1, SKI