ABDOMEN

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, LOEYS-DIETZ SYNDROME 5, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MYOPATHY, MYOFIBRILLAR, 1, HETEROTAXY, VISCERAL, 5, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NON-IMMUNE HYDROPS FETALIS, ?DYSTONIA, JUVENILE-ONSET, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HEMOCHROMATOSIS, TYPE 2B, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ANGIOEDEMA, HEREDITARY, TYPES I AND II, CORNELIA DE LANGE SYNDROME 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, ANGIOEDEMA, HEREDITARY, TYPE III, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, VISCERAL MYOPATHY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, TRYPSINOGEN DEFICIENCY, 3MC SYNDROME 1, HYPOBETALIPOPROTEINEMIA, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, IRON-REFRACTORY IRON DEFICIENCY ANEMIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, KAPPA LIGHT CHAIN DEFICIENCY, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CODAS SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, {CELIAC DISEASE, SUSCEPTIBILITY TO}, PROTEUS SYNDROME, SOMATIC

PCSK1, AR, TMPRSS6, MYH11, CTNNB1, NODAL, PRSS1, PLAU, SERPINA1, RAD21, CREBBP, NME1, IGF2, IGF2R, CTNS, NOS3, COL1A1, CD40LG, TGFB3, F2, AGT, TGFB1, IGKC, BMP2, LEP, PLG, AKT1, APOB, FGA, LONP1, HLA-DQA1, IL6, MASP1, TP53, CASP8, NEU1, DES, F12, APC, FKBP14, EGFR, ACTA2, ADA, ACTB, SERPING1, GP9, MMP1, HAMP, HSPG2, TNF, STAT3, KDR, INS, HFE, GDF2

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MELNICK-NEEDLES SYNDROME, ZIMMERMANN-LABAND SYNDROME 1, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CARDIOFACIOCUTANEOUS SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, LYMPHEDEMA, HEREDITARY, III, HYPOPHOSPHATASIA, INFANTILE, STORMORKEN SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, LEUKODYSTROPHY, HYPOMYELINATING, 4, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PAROXYSMAL EXTREME PAIN DISORDER, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?MARDEN-WALKER SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, LOEYS-DIETZ SYNDROME 3, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, PSEUDOHYPOALDOSTERONISM, TYPE I, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, 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, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, MUCOLIPIDOSIS IV, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, NON-IMMUNE HYDROPS FETALIS, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CORNELIA DE LANGE SYNDROME 3, OTOPALATODIGITAL SYNDROME, TYPE I, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, SPINOCEREBELLAR ATAXIA 19, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OLMSTED SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, LEBER CONGENITAL AMAUROSIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, PARAMYOTONIA CONGENITA, POLYCYSTIC LIVER DISEASE, HOLOPROSENCEPHALY 11, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ESCOBAR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, 3MC SYNDROME 1, NOONAN SYNDROME 7, HYPOBETALIPOPROTEINEMIA, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, SPINOCEREBELLAR ATAXIA 42, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, PROTEUS SYNDROME, SOMATIC

TSC2, KCNN4, STIM1, MCOLN1, KCNJ11, CHRNE, CTNNB1, APOB, PRKCD, SCNN1G, SQSTM1, STX11, SCN1A, SERPINA1, PTEN, CHRNG, KCNH1, GUCY2D, NALCN, SMC3, KCNJ10, TNF, TGFB1, SCNN1B, PSEN1, TJP2, SCN4A, CNTN1, GJA1, CHRND, CHRM3, SCNN1A, CACNA1G, CHRNA1, PKD1, NOS3, FLNA, SCN9A, AKT1, SCN11A, CCND1, CREBBP, BRAF, KCNJ1, MASP1, SEC63, CYBA, ABCC9, EGFR, PIEZO1, L1CAM, INS, BDNF, NCF2, CNTN5, CHRNB1, HSPD1, KCND3, HRAS, LRP2, ALPL, CDC73, KRAS, RYR1, ACTB, MUSK, ABCC8, SMAD3, PCNA, ADCY6, AGT, STAT3, CFTR, EFEMP2, KDR, ACD, CDON, PAM16, PIEZO2, TRPV3, PIK3R1

ADAMS-OLIVER SYNDROME 5, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, AGAMMAGLOBULINEMIA 6, SHPRINTZEN-GOLDBERG SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANGIOEDEMA, HEREDITARY, TYPES I AND II, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, CORNELIA DE LANGE SYNDROME 3, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, TRICHOHEPATOENTERIC SYNDROME 1, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, PERIODIC FEVER, FAMILIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, SMED STRUDWICK TYPE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PARKINSON DISEASE 1, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, WIEDEMANN-STEINER SYNDROME, TROPICAL CALCIFIC PANCREATITIS, {FIBROCALCULOUS PANCREATIC DIABETES, SUSCEPTIBILITY TO}, GLANZMANN THROMBASTHENIA, AXENFELD-RIEGER SYNDROME, TYPE 1, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, AGAMMAGLOBULINEMIA 3, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, LYMPHOPROLIFERATIVE SYNDROME 2, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, KAPPA LIGHT CHAIN DEFICIENCY, OTOPALATODIGITAL SYNDROME, TYPE I, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, COFFIN-LOWRY SYNDROME, CORNELIA DE LANGE SYNDROME 4, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, NETHERTON SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BURN-MCKEOWN SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, DIAPHANOSPONDYLODYSOSTOSIS, KNIEST DYSPLASIA, TRIGONOCEPHALY 1, CORNELIA DE LANGE SYNDROME 2, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, PROTEUS SYNDROME, SOMATIC

FGA, SERPINC1, TTR, ITGB3, FGFR1, SMARCA4, APOA1, COL1A1, SERPINH1, SERPINA1, PTEN, RAD21, SPINK5, ACTB, IGF2, CD79A, FLNA, NOS3, CTCF, CD40LG, FTL, SPINK1, CASR, LEP, AGT, TGFB1, IGKC, SNCA, VHL, ESR1, BMP2, TNFRSF1A, PLG, AKT1, APOB, TXNL4A, PCSK1, CCND1, SPINT2, IL2RA, CD27, STAT1, CASP8, PCNA, PLAU, IL6, KDR, F2, TP53, APC, KIF1BP, UBQLN2, EGFR, BMPER, TTC37, CD79B, SERPING1, SMC1A, SMAD3, CREBBP, RPS6KA3, TNF, STAT3, COL7A1, COL2A1, NOTCH1, INS, SMC3, PITX2, PIK3R1

BARDET-BIEDL SYNDROME 10, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, BARDET-BIEDL SYNDROME 8, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MCKUSICK-KAUFMAN SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, RUBINSTEIN-TAYBI SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES

BBS5, TBP, BBS2, RBBP8, GSC, SMAD4, BBS7, PCNA, BBS4, BBS10, EP300, STAT3, MKKS, BBS1, TTC8, GATA6

ADAMS-OLIVER SYNDROME 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BASAL CELL NEVUS SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PANCREATIC AGENESIS 1, CHOROID PLEXUS PAPILLOMA, WEAVER SYNDROME, ULNAR-MAMMARY SYNDROME, COFFIN-LOWRY SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, BECKWITH-WIEDEMANN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, SPLENIC HYPOPLASIA, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, COPROPORPHYRIA, HARDEROPORPHYRIA, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, PANCREATIC AGENESIS 2, MUIR-TORRE SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CRANIOFRONTONASAL DYSPLASIA, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MISMATCH REPAIR CANCER SYNDROME, LOEYS-DIETZ SYNDROME 3, RETT SYNDROME, CONGENITAL VARIANT, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, AXENFELD-RIEGER SYNDROME, TYPE 1, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PANCREATIC AND CEREBELLAR AGENESIS, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, MULTIPLE ENDOCRINE NEOPLASIA 1, PITT-HOPKINS SYNDROME, PCWH SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, RUBINSTEIN-TAYBI SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, RENAL CYSTS AND DIABETES SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

GATA1, AR, SMARCA4, SUFU, HNF1B, NKX2-5, DVL3, IGF2, TGFB1, FOXG1, NOTCH1, CPOX, TBP, NTF3, AGT, PITX2, PPARG, BMP2, HNF4A, NSD1, TCF4, ATRX, AKT1, SOX2, SOX10, VDR, ESR1, WNT5A, ASCL1, DNMT3A, CCND1, ATXN1, TP53, GLIS3, HNRNPK, MEN1, EP300, PTF1A, GDNF, PTEN, NEUROG3, EGFR, EZH2, TBX3, DNMT3B, EFNB1, TGFBR2, ZEB2, SMAD3, SALL1, CREBBP, RPS6KA3, TNF, STAT3, MSH2, KDR, INS, CTNNB1, GSC, PDX1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ?HEMOCHROMATOSIS, TYPE 5, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, HYPERCALCEMIA, INFANTILE, VITAMIN D-DEPENDENT RICKETS, TYPE I, AGAMMAGLOBULINEMIA 3, LEPRECHAUNISM, CARDIOFACIOCUTANEOUS SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, GREENBERG SKELETAL DYSPLASIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, HEMOCHROMATOSIS, TYPE 2B, ETHYLMALONIC ENCEPHALOPATHY, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PARKINSON DISEASE 1, CYANOSIS, TRANSIENT NEONATAL, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19, LOEYS-DIETZ SYNDROME 3, EHLERS-DANLOS SYNDROME, TYPE VI, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, NOONAN SYNDROME 7, ANGELMAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, HYPOBETALIPOPROTEINEMIA, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, SICKLE CELL ANEMIA, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, CORNELIA DE LANGE SYNDROME 3, MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, PALLISTER-HALL SYNDROME, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), ALPHA-METHYLACETOACETIC ACIDURIA, RUBINSTEIN-TAYBI SYNDROME 2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, CHOROID PLEXUS PAPILLOMA, ?REYNOLDS SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, KABUKI SYNDROME 1, LATHOSTEROLOSIS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, PROTEUS SYNDROME, SOMATIC

PLOD1, LMNA, TTR, NDUFS2, HBB, ACAT1, CTNNB1, APOA1, COL1A1, FAS, QDPR, NR4A2, AR, LBR, SC5D, CD79A, NOS3, PPARG, CYP27B1, FTH1, KMT2D, IL6, CBS, AGT, ITGB4, ETHE1, VHL, INSR, MT-CO2, LEP, FOXP3, AKT1, ABCA1, APOB, VDR, HBG2, EPM2A, KLF1, TP53, UBE3A, GATA6, TBP, INS, PCNA, FECH, EP300, FTL, GLI3, HSPD1, SMC3, SNCA, CYP11B2, EGFR, POR, HSPA9, EPOR, SMAD3, CYP7B1, HAMP, CYP24A1, BRAF, ESR1, PIK3R1, NFU1, LYRM4, MTRR, CYC1, MT-CO1

AGAMMAGLOBULINEMIA 1, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BASAL CELL NEVUS SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, SUPRANUCLEAR PALSY, PROGRESSIVE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, TARP SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, FRASER SYNDROME, MANNOSIDOSIS, ALPHA-, TYPES I AND II, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER), PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PEUTZ-JEGHERS SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, AICARDI-GOUTIERES SYNDROME 7, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SPHEROCYTOSIS, TYPE 4, TRYPSINOGEN DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, BANNAYAN-RILEY-RUVALCABA SYNDROME, ADAMS-OLIVER SYNDROME 6, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, SPLENIC HYPOPLASIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, PORPHYRIA, ACUTE HEPATIC, {LEAD POISONING, SUSCEPTIBILITY TO}, OSTEOGENESIS IMPERFECTA, TYPE XIII, COCKAYNE SYNDROME, TYPE B, HERMANSKY-PUDLAK SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IB, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, GLANZMANN THROMBASTHENIA, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, DYSAUTONOMIA, FAMILIAL, LOEYS-DIETZ SYNDROME 2, SICKLE CELL ANEMIA, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, HYPOPHOSPHATASIA, INFANTILE, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DESANTO-SHINAWI SYNDROME, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, FAMILIAL MEDITERRANEAN FEVER, AR, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, AGAMMAGLOBULINEMIA, X-LINKED 1, KABUKI SYNDROME 2, GLYCOGEN STORAGE DISEASE XII, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ADENOMAS, MULTIPLE COLORECTAL, TRIGONOCEPHALY 1, PITT-HOPKINS SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, DUANE-RADIAL RAY SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, WIEDEMANN-STEINER SYNDROME, ?IMMUNODEFICIENCY 22, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, NATIVE AMERICAN MYOPATHY, JOHANSON-BLIZZARD SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ADAMS-OLIVER SYNDROME 5, CORNELIA DE LANGE SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, CORPUS CALLOSUM, PARTIAL AGENESIS OF, BOHRING-OPITZ SYNDROME, BALLER-GEROLD SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, OCCIPITAL HORN SYNDROME, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, OPITZ GBBB SYNDROME, TYPE I, OCULODENTODIGITAL DYSPLASIA, HYPOBETALIPOPROTEINEMIA, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LACTASE PERSISTENCE/NONPERSISTENCE, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, FEINGOLD SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, DIAMOND-BLACKFAN ANEMIA 8, RUBINSTEIN-TAYBI SYNDROME, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), MULIBREY NANISM, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, DYSKERATOSIS CONGENITA, X-LINKED, DIAPHANOSPONDYLODYSOSTOSIS, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, ANGELMAN SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, ROTHMUND-THOMSON SYNDROME, COFFIN-SIRIS SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MICROPHTHALMIA, SYNDROMIC 12, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, OTOPALATODIGITAL SYNDROME, TYPE II, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, CORNELIA DE LANGE SYNDROME 2, HYPERBILIVERDINEMIA, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), GELEOPHYSIC DYSPLASIA 1, STRIATONIGRAL DEGENERATION, INFANTILE, AXENFELD-RIEGER SYNDROME, TYPE 1, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, AMYOTROPHIC LATERAL SCLEROSIS 17, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, HERMANSKY-PUDLAK SYNDROME 2, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, IVIC SYNDROME, ARGININEMIA, WAARDENBURG SYNDROME, TYPE 4C, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, DIHYDROPYRIMIDINURIA, IMMUNODEFICIENCY 14, GLYCOGEN STORAGE DISEASE 0, MUSCLE, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, POLYCYTHEMIA VERA, SOMATIC, ?HEMOCHROMATOSIS, TYPE 5, WEAVER SYNDROME, PROLIDASE DEFICIENCY, EVEN-PLUS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, BURN-MCKEOWN SYNDROME, ?TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, OHDO SYNDROME, X-LINKED, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 3B, DIAMOND-BLACKFAN ANEMIA 7, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, TRIFUNCTIONAL PROTEIN DEFICIENCY, RUBINSTEIN-TAYBI SYNDROME 2, OTOPALATODIGITAL SYNDROME, TYPE I, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, COMMON VARIABLE IMMUNODEFICIENCY 1, COFFIN-SIRIS SYNDROME 4, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, IMMUNODEFICIENCY WITH HYPER-IGM, TYPE 2, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, CORNELIA DE LANGE SYNDROME 3, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, VISCERAL MYOPATHY, ALAGILLE SYNDROME, CRYOHYDROCYTOSIS, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, MELNICK-NEEDLES SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, COFFIN-SIRIS SYNDROME 2, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, MICROPHTHALMIA, SYNDROMIC 2, LEUKODYSTROPHY, HYPOMYELINATING, 12, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, COWDEN SYNDROME 7, WISKOTT-ALDRICH SYNDROME, GENITOPATELLAR SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, PERLMAN SYNDROME, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 23, CORNELIA DE LANGE SYNDROME 5, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, GLYCOGEN STORAGE DISEASE VII, CRANIOLENTICULOSUTURAL DYSPLASIA, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, GALACTOSEMIA, BECKWITH-WIEDEMANN SYNDROME, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, ENCEPHALOPATHY, NEONATAL SEVERE, FANCONI ANEMIA, COMPLEMENTATION GROUP L, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, FIBROCHONDROGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, HYPERCHLORHIDROSIS, ISOLATED, CHOROID PLEXUS PAPILLOMA, AMYOTROPHIC LATERAL SCLEROSIS 21, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?PRUNE BELLY SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, COPROPORPHYRIA, HARDEROPORPHYRIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, CLOVE SYNDROME, SOMATIC, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, OPITZ-KAVEGGIA SYNDROME, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MCKUSICK-KAUFMAN SYNDROME, FAMILIAL MEDITERRANEAN FEVER, AD, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, LEPRECHAUNISM, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, SHPRINTZEN-GOLDBERG SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, PRADER-WILLI SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, RETINITIS PIGMENTOSA 71, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, HOLOPROSENCEPHALY-7, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, 3MC SYNDROME 1, NOONAN SYNDROME 7, DYSTONIA 16, AICARDI-GOUTIERES SYNDROME 5, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MEIER-GORLIN SYNDROME 1, CAUDAL REGRESSION SYNDROME, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, OMENN SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, RENAL TUBULAR ACIDOSIS, DISTAL, AR, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, TENORIO SYNDROME, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB, KABUKI SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MEIER-GORLIN SYNDROME 5, GELEOPHYSIC DYSPLASIA 2, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, POLYARTERITIS NODOSA, CHILDHOOD-ONSET, COLE DISEASE, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HETEROTAXY, VISCERAL, 7, AUTOSOMAL, HERMANSKY-PUDLAK SYNDROME 7, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

NFKB2, SEC23A, MMP21, HBB, TBK1, APOB, PEX13, COL1A1, SALL1, NR4A2, ACTB, SQSTM1, WNT5A, CIITA, RPS7, GYS1, SMARCA4, EFTUD2, FTL, KCNJ11, MLH1, AGT, GCH1, PPARG, TAF6, PRKRA, HIBCH, SNCA, GALT, RECQL4, GJA1, TRIP4, SHANK3, FGA, PAX8, MYH7, STK11, PLG, MAN2B1, SPG7, IL2RA, DPYS, SALL4, PSTPIP1, BCOR, IKBKAP, KRT8, FBP1, CDC6, MMP1, DNM2, DES, BMPER, PIK3CA, TRIM32, GFM1, NOTCH1, EXOC8, CDC73, AFG3L2, MEFV, TGFBR2, CECR1, MUTYH, CREBBP, MSH2, SOX2, DNMT3B, CTNNB1, SF3B4, PTEN, RARB, SMARCB1, ACTA1, ATXN2, GRIP1, FBLN5, KDM6A, APOA1, CASP8, NKX2-5, AXIN2, CHMP1A, NME1, MPI, KRT18, FERMT3, NOS3, DNMT3A, THRA, LMNB1, MAPT, BUB1B, SMAD9, SKIV2L, FGFR1, ERCC2, MID1, LEP, SNIP1, PIK3CD, CPOX, ALAD, ABCA1, NFKBIA, ICOS, SMARCE1, ATRX, CCND1, RBM10, JAK2, HADH, IGHM, VPS33B, DVL1, PFKM, EP300, KDR, MKKS, HSPD1, ROR2, ADAMTS2, ALPL, EZH2, NTF3, TSHB, TNNT2, NR3C2, GSC, SMC1A, AICDA, RAG2, BIN1, TNFRSF1A, ENPP1, ADAMTSL2, KMT2A, HMGCS2, SEC23B, INS, KAT6B, SMC3, ARG1, ACVR1B, GATA1, PTCH1, DIS3L2, TTR, MEN1, ITGB3, AGL, DKC1, BMP1, ADAMTS13, SCO2, GLI3, STX11, SMAD4, HNF4A, DVL3, FGB, CBS, TAF1, UBR1, INSR, HLA-DRB1, CHRM3, SLC4A1, FLNA, CASR, CNTN1, STAC3, MATR3, VHL, NUP62, TNFAIP3, RAPSN, BMP2, POLR2F, VPS11, PLAU, AKT1, RPSA, SETD5, TXNL4A, IFIH1, VDR, NDUFS1, ASCL1, CFTR, PARK2, PRKCD, TP53, GFI1B, UBE3A, FBN1, PEX19, AXIN1, HNRNPK, CHMP2B, MTR, RAG1, HDAC8, ARX, VANGL1, MCM4, JAG1, WAC, TINF2, CDKN1C, AARS, ACTA2, HSPA9, ORC1, VPS35, PRSS1, IL1RN, MUSK, ABCB11, MECP2, BRAF, NOD2, BTK, ITGA6, AIRE, ERCC6, OCLN, POLA1, LCK, AR, SLC2A1, SMAD3, SETX, CD40LG, MASP1, PRICKLE2, POLR3A, MUT, DLL4, PEX2, ASXL1, TARDBP, WAS, PRKCSH, TNF, CLDN1, NONO, PEPD, PEX12, GATA6, ITGA2B, TBP, DTNBP1, ATP7A, AP3B1, COL11A1, TGFB1, NSD1, STAT1, STAT3, NHLRC1, PCNA, SAMHD1, ATXN1, TCF4, CARD11, IFT172, BLVRA, MCM6, ADH1C, POLE, PITX2, MED12, RBCK1, ITCH, ALDOA, MSH6, C10orf2, IL6, ZHX2, RPL11, MYCN, CA12, SNRPN, L1CAM, ACD, BDNF, SERPINA1, F2, ADAM17, RNF113A, KMT2D, CTCF, APC, KAT6A, HRAS, FTH1, FANCL, GDNF, EGFR, EIF2AK3, RNF125, ADA, POLR3B, MYH11, TXN2, ARID1A, HSPG2, CAD, ESR1, PYCR1, PIK3R1, TRIM37, RBBP8, KIF1BP, SOX10, HADHB, SKI

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, DIHYDROPYRIMIDINURIA, SHPRINTZEN-GOLDBERG SYNDROME, GALACTOSE EPIMERASE DEFICIENCY, MYOPATHY, MYOFIBRILLAR, 1, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, OCULODENTODIGITAL DYSPLASIA, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, FOLATE MALABSORPTION, HEREDITARY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, LEUKODYSTROPHY, HYPOMYELINATING, 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, GLYCINE N-METHYLTRANSFERASE DEFICIENCY, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, EPISODIC ATAXIA, TYPE 6, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, RUBINSTEIN-TAYBI SYNDROME 2, CITRULLINEMIA, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, GLYCOGEN STORAGE DISEASE XII, METHYLMALONIC ACIDURIA, MUT(0) TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, GLYCOGEN STORAGE DISEASE VII, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, CHOROID PLEXUS PAPILLOMA, JOHANSON-BLIZZARD SYNDROME, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, PROTEUS SYNDROME, SOMATIC

OTC, LMNA, GLRA1, YARS2, SHMT1, GNMT, TP53, DDC, SLC46A1, EP300, SERPINA1, MTHFR, PTRF, TNF, TGFB1, NOS3, GCH1, ALDOA, SLC1A3, CAD, CBS, GJA1, CTNNB1, MT-CO2, LEP, UBR1, AKT1, DPYS, GALE, GLUD2, IL6, MUT, FOLR1, ASS1, EGFR, SUCLA2, PCNA, PFKM, DES, HSPD1, KIF1BP, HRAS, SLC19A1, AARS, FGG, PTEN, QDPR, BIN1, AGT, GPHN, CPS1, INS, DHFR, ALAS2

?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, ?INFANTILE LIVER FAILURE SYNDROME 1, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, POLYCYSTIC LIVER DISEASE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, INTERSTITIAL LUNG AND LIVER DISEASE, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, PONTOCEREBELLAR HYPOPLASIA, TYPE 6

AARS, RARS2, SARS2, EARS2, SEC63, FARS2, CARS2, NARS2, LARS, SMAD4, MARS2, YARS2, TARS2, HSPD1, MARS, CPS1

LEUKODYSTROPHY, HYPOMYELINATING, 4, ?IMMUNODEFICIENCY 22, {CELIAC DISEASE, SUSCEPTIBILITY TO}, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}

LCK, HLA-DRB1, TNF, HLA-DQB1, HLA-B, HLA-DQA1, HFE, HSPD1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?PRUNE BELLY SYNDROME, CITRULLINEMIA, TYPE II, NEONATAL-ONSET, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, CORNELIA DE LANGE SYNDROME 3, DUBIN-JOHNSON SYNDROME, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OVERHYDRATED HEREDITARY STOMATOCYTOSIS, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, SIALIC ACID STORAGE DISORDER, INFANTILE, SUPRANUCLEAR PALSY, PROGRESSIVE, SPHEROCYTOSIS, TYPE 4, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINEMIA SYNDROME, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, LYSINURIC PROTEIN INTOLERANCE, LEUKODYSTROPHY, HYPOMYELINATING, 4, DIABETES INSIPIDUS, NEPHROGENIC, PARKINSONISM-DYSTONIA, INFANTILE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, PARKINSON DISEASE 1, MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, GITELMAN SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, CRYOHYDROCYTOSIS, BARTTER SYNDROME, TYPE 1, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, AXENFELD-RIEGER SYNDROME, TYPE 1, ANGELMAN SYNDROME, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, ALLAN-HERNDON-DUDLEY SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, ACHONDROGENESIS IB, HYPERBILIRUBINEMIA, ROTOR TYPE, DIGENIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, CITRULLINEMIA, ADULT-ONSET TYPE II, EPISODIC ATAXIA, TYPE 6, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, THYROID DYSHORMONOGENESIS 1, SPHEROCYTOSIS, TYPE 1, TANGIER DISEASE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), RUBINSTEIN-TAYBI SYNDROME 2, MICROCEPHALY, AMISH TYPE, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, RENAL TUBULAR ACIDOSIS, DISTAL, AR, MYOTONIA CONGENITA, RECESSIVE, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, BILE ACID MALABSORPTION, PRIMARY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, RUBINSTEIN-TAYBI SYNDROME, HYPERPARATHYROIDISM, NEONATAL, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, ENCEPHALOPATHY, NEONATAL SEVERE, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, CHOROID PLEXUS PAPILLOMA, MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY, PROTEUS SYNDROME, SOMATIC

MECP2, SLCO1B3, SHMT1, SQSTM1, SLC5A5, APOA1, HCCS, ABCB11, SLC22A5, SLC26A2, SLC25A19, SLC25A15, NOS3, MAPT, STAT1, SLC16A1, SLC34A3, CNTN1, PEX19, PITX2, GPHN, SLC37A4, SLC6A3, SNCA, AKT1, ABCA1, SLC35A2, FGA, CREBBP, SLC17A5, ABCC2, KLF1, SLC25A13, PRKCD, SLC25A1, ANK1, SLC6A8, L1CAM, INS, MPC1, RHAG, GLRA1, EP300, SLC4A1, TP53, HSPD1, AQP2, CLCN1, CTNS, SLC16A2, EGFR, SLC10A2, CASR, FGG, SLC7A7, SLC1A3, BDNF, TBK1, HSPG2, TNF, CHRM3, CFTR, PIK3R1, SLC12A3, SLC26A3, SMC3, SLCO1B1, SLC12A1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, SUPRANUCLEAR PALSY, PROGRESSIVE, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, IMMUNODEFICIENCY 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, WAARDENBURG SYNDROME, TYPE 4A, MELNICK-NEEDLES SYNDROME, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME, DYSAUTONOMIA, FAMILIAL, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, GLYCOGEN STORAGE DISEASE XII, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, RUBINSTEIN-TAYBI SYNDROME, WIEDEMANN-STEINER SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, NIEMANN-PICK DISEASE TYPE C1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LACTASE PERSISTENCE/NONPERSISTENCE, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DIAMOND-BLACKFAN ANEMIA 8, SPHEROCYTOSIS, TYPE 2, PYRUVATE KINASE DEFICIENCY, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, PSEUDOHYPOALDOSTERONISM, TYPE I, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MYOPATHY, MYOFIBRILLAR, 1, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, OPSISMODYSPLASIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, WAARDENBURG SYNDROME, TYPE 4C, ALAGILLE SYNDROME 2, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, POLYCYTHEMIA VERA, SOMATIC, NIEMANN-PICK DISEASE, TYPE A, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, BANNAYAN-RILEY-RUVALCABA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8, NIEMANN-PICK DISEASE, TYPE B, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, ?CHARGE SYNDROME, CHARGE SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, COENZYME Q10 DEFICIENCY, PRIMARY, 3, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ULNAR-MAMMARY SYNDROME, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, HYPOBETALIPOPROTEINEMIA, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11, AGAMMAGLOBULINEMIA 3, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, OMENN SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

F2, KMT2A, ACTB, FAS, PIGT, PSEN1, SNX10, ALDOA, KRIT1, AGT, PPARG, BBS4, NPC1, BTK, GJA1, SOX10, FGA, ITCH, CASP8, DNM2, DES, PIK3CA, NCF4, BBS2, TGFBR2, TBK1, COL2A1, CTNNB1, RAG2, ACTA1, APOB, CHD7, APOA1, PLAU, EGFR, QDPR, CREBBP, NME1, CD79A, PKLR, CCND1, MAPT, TNF, SYT14, SCNN1A, PIK3CD, ABCA1, GTPBP3, IKBKAP, KCNJ1, JAK2, GLIS3, HSPD1, TBX3, ACTA2, ATP8B1, WAS, INS, OTC, NCF1, TTR, ITGB3, SMPD1, SMAD4, DVL3, STAT1, LRP5, CASR, NUP62, RAPSN, EDNRB, AKT1, INPPL1, ATXN1, PRKCD, TP53, FASLG, IKBKB, HNRNPK, SNCA, PSTPIP1, ARL6, VPS35, RPS7, MUSK, AMER1, MCM6, MTM1, KIT, STAT3, LCK, BBS5, FLNA, BIN1, PDSS2, BBS7, NOS3, PTRF, TGFB1, TBP, ZFYVE26, SPTB, INSR, NOTCH2, PLG, CPS1, IL6, DOK7, L1CAM, ACD, PCNA, SERPINA1, PTEN, HRAS, LRP2, POLR3B, SMAD3, TERT, HSPG2, ESR1, KDR, KIF1BP, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, FRASER SYNDROME, COCKAYNE SYNDROME, TYPE A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, SPLENIC HYPOPLASIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MACHADO-JOSEPH DISEASE, DYSAUTONOMIA, FAMILIAL, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, PITT-HOPKINS SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MEIER-GORLIN SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, WIEDEMANN-STEINER SYNDROME, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, BOHRING-OPITZ SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LACTASE PERSISTENCE/NONPERSISTENCE, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, LOEYS-DIETZ SYNDROME 3, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, AGNATHIA-OTOCEPHALY COMPLEX, ANGELMAN SYNDROME, IMMUNODEFICIENCY 19, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, COFFIN-SIRIS SYNDROME 3, FLOATING-HARBOR SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, AXENFELD-RIEGER SYNDROME, TYPE 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ACHONDROGENESIS, TYPE IA, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, WAARDENBURG SYNDROME, TYPE 4C, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, WEAVER SYNDROME, EVEN-PLUS SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMMON VARIABLE IMMUNODEFICIENCY 1, COFFIN-SIRIS SYNDROME 4, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, COFFIN-SIRIS SYNDROME 2, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, MULTIPLE ENDOCRINE NEOPLASIA 1, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, ENCEPHALOPATHY, NEONATAL SEVERE, OHDO SYNDROME, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, COPROPORPHYRIA, HARDEROPORPHYRIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, OPITZ-KAVEGGIA SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MUIR-TORRE SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, KARTAGENER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, CHOROID PLEXUS PAPILLOMA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, KABUKI SYNDROME 1, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

DYRK1B, PARK7, CD3D, ACTB, CIITA, AGT, MCM6, PPARG, MCIDAS, CDC6, KMT2A, TRIP4, THRA, FMR1, TRIM32, NEUROG3, CREBBP, IKBKAP, CTNNB1, SF3B4, ACTA1, GRIP1, SMARCA4, CASP8, NKX2-5, AR, NOS3, MYCN, TNF, PRRX1, TAF6, AKT2, RFXAP, SMARCE1, CCND1, NFKBIA, TRIP11, MEN1, EP300, TAF1, STAT3, INS, KAT6A, GDF2, PAX8, GATA1, VHL, GJA1, SMAD4, GDNF, MECP2, ARL2BP, NFKB2, PQBP1, HNF4A, RAPSN, SIK1, AKT1, SOX2, AXIN1, VDR, ATXN1, TP53, UBE3A, MED17, ARID1B, EZH2, GLI3, ERCC8, ITCH, HSPA9, PTEN, ABCB11, SOX10, ASXL1, SMARCB1, HNRNPK, ATXN2, BCL10, SRCAP, AMH, TBP, TCF4, NOTCH1, PITX2, MED12, MSH2, IL6, CPOX, STX11, KMT2D, HRAS, ATXN3, SMAD3, ARID1A, ESR1, KDR, SKI

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BASAL CELL NEVUS SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, VERHEIJ SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, FRASER SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, COCKAYNE SYNDROME, TYPE A, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SPLENIC HYPOPLASIA, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, 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, MACHADO-JOSEPH DISEASE, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), OHDO SYNDROME, X-LINKED, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, KABUKI SYNDROME 2, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, DIAPHANOSPONDYLODYSOSTOSIS, WIEDEMANN-STEINER SYNDROME, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, {AUTISM, SUSCEPTIBILITY TO, 18}, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, LOEYS-DIETZ SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LACTASE PERSISTENCE/NONPERSISTENCE, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, CRANIOFRONTONASAL DYSPLASIA, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, BOHRING-OPITZ SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, VELOCARDIOFACIAL SYNDROME, AGNATHIA-OTOCEPHALY COMPLEX, ANGELMAN SYNDROME, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ROTHMUND-THOMSON SYNDROME, COFFIN-SIRIS SYNDROME 3, FLOATING-HARBOR SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, CORNELIA DE LANGE SYNDROME 2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, MULTIPLE ENDOCRINE NEOPLASIA 1, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 17, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, WAARDENBURG SYNDROME, TYPE 4C, COFFIN-SIRIS SYNDROME 4, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, DIGEORGE SYNDROME, ?DYSTONIA, JUVENILE-ONSET, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, BALLER-GEROLD SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, COFFIN-SIRIS SYNDROME 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, GENITOPATELLAR SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TARP SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ?CHARGE SYNDROME, CHARGE SYNDROME, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, ACHONDROGENESIS, TYPE IA, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, COPROPORPHYRIA, HARDEROPORPHYRIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, OPITZ-KAVEGGIA SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MUIR-TORRE SYNDROME, IVIC SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, ULNAR-MAMMARY SYNDROME, KARTAGENER SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, DYSAUTONOMIA, FAMILIAL, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, KABUKI SYNDROME 1, CHEDIAK-HIGASHI SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

DYRK1B, PEX14, EZH2, PARK7, CD3D, SALL1, ACTB, CIITA, SMARCA4, TBX3, AGT, MCM6, PPARG, MCIDAS, RECQL4, WNT5A, TRIP4, KMT2A, CHD8, FMR1, PTRH2, BCOR, TRIP11, CDC6, TRIM32, NEUROG3, BMPER, GFI1B, CREBBP, SIK1, CTNNB1, SF3B4, PTEN, ACTA1, SHOC2, GRIP1, KRAS, AXIN2, CASP8, NKX2-5, AR, LYST, NOS3, MYCN, TNF, PRRX1, TAF6, AKT2, CPOX, RFXAP, JAK2, GJA1, SMARCE1, IKBKAP, CCND1, NFKBIA, RBM10, ARL2BP, GDNF, GLIS3, MEN1, EP300, TAF1, ROR2, NTF3, TSHB, GSC, BDNF, RBBP8, STAT3, ERCC8, TBX1, INS, KAT6B, SMC3, PITX2, PAX8, GATA1, VHL, SLC35A2, SUFU, STX11, SMAD4, CHAT, MECP2, CD40LG, CHD7, NFKB2, PQBP1, HNF4A, RAPSN, BMP2, FOXP3, AKT1, SOX2, AXIN1, VDR, LRPPRC, ATXN1, TP53, UBE3A, PEX19, ARID1B, RPSA, GLI3, SMC1A, ITCH, HSPA9, EFNB1, NONO, ABCB11, KDM6A, GDF2, LCK, ATXN2, SLC2A1, SMARCB1, PRKCD, HNRNPK, NOTCH1, ASXL1, PUF60, TGFB1, FOXG1, RFXANK, AMH, TBP, KLF1, BCL10, NSD1, TCF4, SRCAP, MED12, MSH2, IL6, SALL4, ZHX2, THRA, SLC26A3, PCNA, KMT2D, CTCF, KAT6A, HRAS, MED17, EGFR, ATXN3, DNMT3B, NHP2, SMAD3, ARID1A, ESR1, PIK3R1, KDR, SOX10, SKI

SUPRANUCLEAR PALSY, PROGRESSIVE, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, AICARDI-GOUTIERES SYNDROME 7, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, SELECTIVE T-CELL DEFECT, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, GLUTARICACIDURIA, TYPE I, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, 3-METHYLCROTONYL-COA CARBOXYLASE 1 DEFICIENCY, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, MOLYBDENUM COFACTOR DEFICIENCY A, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, HOLOCARBOXYLASE SYNTHETASE DEFICIENCY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, BECKWITH-WIEDEMANN SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, ANGELMAN SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, FLOATING-HARBOR SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, KAPPA LIGHT CHAIN DEFICIENCY, CILIARY DYSKINESIA, PRIMARY, 7, WITH OR WITHOUT SITUS INVERSUS, CITRULLINEMIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER), CARPENTER SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, VERHEIJ SYNDROME, CAP MYOPATHY 2, NEMALINE MYOPATHY 4, AUTOSOMAL DOMINANT, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, PEROXISOME BIOGENESIS DISORDER 1B (NALD/IRD), {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, HYPER-IGD SYNDROME, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, FAMILIAL ADENOMATOUS POLYPOSIS 3, PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, COWDEN SYNDROME 7, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, MEIER-GORLIN SYNDROME 2, PROTOPORPHYRIA, ERYTHROPOIETIC, AUTOSOMAL RECESSIVE, HEMOCHROMATOSIS TYPE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, MECONIUM ILEUS, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, LEBER CONGENITAL AMAUROSIS 1, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME, PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE, HMG-COA SYNTHASE-2 DEFICIENCY, HOLOPROSENCEPHALY 11, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIK, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 3, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, TARP SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, EHLERS-DANLOS SYNDROME, TYPE VI, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, NOONAN SYNDROME 7, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, DYSAUTONOMIA, FAMILIAL, AGAMMAGLOBULINEMIA 3, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE, MARTIN-PROBST DEAFNESS-MENTAL RETARDATION SYNDROME, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), LIVER FAILURE, TRANSIENT INFANTILE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, COLE DISEASE, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, GLYCOGEN STORAGE DISEASE VI, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29, NON-IMMUNE HYDROPS FETALIS, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, MEDNIK SYNDROME, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, MYOTONIC DYSTROPHY 1, NIJMEGEN BREAKAGE SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY, MELNICK-NEEDLES SYNDROME, GLANZMANN THROMBASTHENIA, D-BIFUNCTIONAL PROTEIN DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 35, MACHADO-JOSEPH DISEASE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MEIER-GORLIN SYNDROME 1, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPOPHOSPHATASIA, INFANTILE, NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT, ?REYNOLDS SYNDROME, PROPIONICACIDEMIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, MEIER-GORLIN SYNDROME 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, SHPRINTZEN-GOLDBERG SYNDROME, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, {AUTISM, SUSCEPTIBILITY TO, 18}, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, FOLATE MALABSORPTION, HEREDITARY, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, CUTIS LAXA, AUTOSOMAL DOMINANT 3, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, OCCIPITAL HORN SYNDROME, FANCONI ANEMIA, COMPLEMENTATION GROUP O, COFFIN-SIRIS SYNDROME 3, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, PSEUDOHYPOALDOSTERONISM, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, JOUBERT SYNDROME 12, ACROCALLOSAL SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, SADDAN, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, OPSISMODYSPLASIA, HERMANSKY-PUDLAK SYNDROME 2, OROFACIODIGITAL SYNDROME V, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, JOUBERT SYNDROME 10, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, ?INFANTILE LIVER FAILURE SYNDROME 1, PROLIDASE DEFICIENCY, EVEN-PLUS SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS, SPINOCEREBELLAR ATAXIA 1, LACTASE PERSISTENCE/NONPERSISTENCE, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME, FRONTOTEMPORAL LOBAR DEGENERATION, TARDBP-RELATED, AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FTD, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GLYCOGEN STORAGE DISEASE VII, CILIARY DYSKINESIA, PRIMARY, 28, ?IMMUNODEFICIENCY 22, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, HYPEREKPLEXIA HEREDITARY, CORNELIA DE LANGE SYNDROME 2, ROBINOW SYNDROME, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SESAME SYNDROME, MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ASPARAGINE SYNTHETASE DEFICIENCY, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, PYRUVATE CARBOXYLASE DEFICIENCY, GALLBLADDER DISEASE 1, LESCH-NYHAN SYNDROME, DYSTONIA 16, HYPOBETALIPOPROTEINEMIA, ACYL-COA DEHYDROGENASE, MEDIUM CHAIN, DEFICIENCY OF, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3, GLYCOGEN STORAGE DISEASE 0, MUSCLE, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ?MICROPHTHALMIA, SYNDROMIC 1, METHYLMALONIC ACIDURIA, MUT(0) TYPE, ISOVALERIC ACIDEMIA, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, OMENN SYNDROME, BARDET-BIEDL SYNDROME 10, GLYCOGEN STORAGE DISEASE IV, IMMUNODEFICIENCY 15, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, DIARRHEA 6, WILSON DISEASE, COCKAYNE SYNDROME, TYPE B, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, ZIMMERMANN-LABAND SYNDROME 1, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CENTRONUCLEAR MYOPATHY 5, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, PONTOCEREBELLAR HYPOPLASIA, TYPE 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1, MEVALONIC ACIDURIA, SITOSTEROLEMIA, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, MOYAMOYA 6 WITH ACHALASIA, NIEMANN-PICK DISEASE TYPE C1, LEPRECHAUNISM, SPLENIC HYPOPLASIA, MECKEL SYNDROME 10, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, GREENBERG SKELETAL DYSPLASIA, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, PARKINSON DISEASE 1, ?BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CHYLOMICRON RETENTION DISEASE, OHDO SYNDROME, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, COMBINED SAP DEFICIENCY, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, DYSKINESIA, LIMB AND OROFACIAL, INFANTILE-ONSET, PEROXISOME BIOGENESIS DISORDER 4B, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, BEARE-STEVENSON CUTIS GYRATA SYNDROME, POLYCYTHEMIA VERA, SOMATIC, WOLFRAM SYNDROME 2, CORNELIA DE LANGE SYNDROME 3, MILLER SYNDROME, BURN-MCKEOWN SYNDROME, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2, GLYCOGEN STORAGE DISEASE IXC, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, METHYLMALONIC ACIDURIA CBLB TYPE, COENZYME Q10 DEFICIENCY, PRIMARY, 5, VISCERAL MYOPATHY, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 27, VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY, LEUKODYSTROPHY, HYPOMYELINATING, 12, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, CORNELIA DE LANGE SYNDROME 1, 5-OXOPROLINASE DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, AMYOTROPHIC LATERAL SCLEROSIS 21, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, COPROPORPHYRIA, HARDEROPORPHYRIA, NEPHRONOPHTHISIS 15, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, PARAMYOTONIA CONGENITA, OPITZ-KAVEGGIA SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, MCKUSICK-KAUFMAN SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, MUIR-TORRE SYNDROME, D-2-HYDROXYGLUTARIC ACIDURIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, OROFACIODIGITAL SYNDROME I, MYOTONIA CONGENITA, RECESSIVE, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, AICARDI-GOUTIERES SYNDROME 5, SCHIMKE IMMUNOOSSEOUS DYSPLASIA, PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, MITOCHONDRIAL COMPLEX I DEFICIENCY DUE TO ACAD9 DEFICIENCY, NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, STAR SYNDROME, FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, TYROSINEMIA, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, ?IMMUNODEFICIENCY 37, INTERSTITIAL LUNG AND LIVER DISEASE, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), ACYL-COA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, STROMME SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PITT-HOPKINS SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, PYRIDOXAMINE 5'-PHOSPHATE OXIDASE DEFICIENCY, TRIGONOCEPHALY 1, ADRENOLEUKODYSTROPHY, ADRENOMYELONEUROPATHY, ADULT, LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C, VLCAD DEFICIENCY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 21, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4, OCULODENTODIGITAL DYSPLASIA, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, ARTS SYNDROME, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PYRUVATE KINASE DEFICIENCY, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, MULTIPLE ENDOCRINE NEOPLASIA IIA, ROTHMUND-THOMSON SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), AICARDI-GOUTIERES SYNDROME 1, DOMINANT AND RECESSIVE, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SEVERE COMBINED IMMUNODEFICIENCY, ATHABASCAN TYPE, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, CHOREOACANTHOCYTOSIS, METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, PANCREATIC AGENESIS 1, WEAVER SYNDROME, FUMARASE DEFICIENCY, LOWE SYNDROME, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, LYMPHOPROLIFERATIVE SYNDROME 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), PERLMAN SYNDROME, HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, GALACTOSEMIA, ENCEPHALOPATHY, NEONATAL SEVERE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, CODAS SYNDROME, WOLCOTT-RALLISON SYNDROME, PERIODIC FEVER, FAMILIAL, DIABETES INSIPIDUS, NEPHROGENIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, CILIARY DYSKINESIA, PRIMARY, 1, WITH OR WITHOUT SITUS INVERSUS, CILIARY DYSKINESIA, PRIMARY, 6, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25, MECKEL SYNDROME 4, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, MOLYBDENUM COFACTOR DEFICIENCY B, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, KABUKI SYNDROME 1, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, SIALURIA, DENT DISEASE 2, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

TSC2, FECH, MSH6, EDNRA, LMNA, ACADS, LBR, GNAS, CIITA, FTL, KRIT1, RBBP8, POLD1, LRRK2, DNAH14, CDC6, PKD1, NLRP12, CHD8, KIF7, PTRH2, RAD51C, FH, FAM58A, PNPO, POR, PMS2, OCRL, CREBBP, GNE, LIPT1, GTPBP3, PRPS1, DYNC2H1, NONO, PHKB, ATRX, SCN4A, SOX2, APOA1, PHKA2, AR, LONP1, CD79A, THRA, BUB1B, IGF2R, SKIV2L, TAF6, PIK3CD, STT3A, SMARCE1, KCNJ1, NTHL1, CEP164, SUCLA2, SPEG, MKKS, HSPD1, ROR2, ABCD4, NDUFA1, TNNT2, GPD1, PSAP, ENPP1, SMC3, ACVR1B, GATA1, PRKRA, CTNNB1, IL2RA, NRAS, SMAD4, DVL3, CEP290, TPM2, MATR3, NARS2, BBS7, AKT1, RIPK4, INPPL1, BLNK, LRPPRC, PDSS2, UBE3A, ABCB4, TRMU, PINK1, EZH2, DNAH1, HSPA9, EFNB1, MMAA, NOD2, MCM6, ADK, POLA1, ASNS, CYBB, SLC46A1, LAMA2, SRCAP, SPG7, BCL10, DMPK, GPHN, VPS11, D2HGDH, PCCA, FMR1, RAB40AL, BDNF, ERCC6, POMK, LRP2, ATXN3, AP3B1, SARS2, POLR3B, TERT, EXOC8, ACTG2, HADHB, SKI, PEX14, SEC23A, CYBA, TREX1, APOB, ORC4, MMP1, NAA10, MT-CO2, ACTB, SEMA3E, MOCS2, PSEN1, DGUOK, PCCB, NPC1, MCCC2, FGA, MYH7, HADH, CDKN3, NEK8, CDT1, NBN, CDC73, GFI1B, BBS2, DLD, SLC9A3, IL2RG, SF3B4, TGFBR2, ABCC6, ADCY6, GUCY2D, PYGL, PKLR, MYCN, CBS, FGFR1, POLG, SUCLG1, EXOSC8, B9D2, EARS2, MYOM1, RBM10, VPS33B, MEN1, NLRC4, ACTA2, STAT3, HMGCS2, BRAF, KAT6A, NCF1, BBS12, ALPL, MMAB, DNAJB6, SMAD9, SNIP1, GMPPB, NFKB2, BMP2, SMC1A, GBE1, TXNL4A, VDR, ASCL1, DVL1, PARK2, COQ9, EGFR, ITPA, IKBKB, CASP8, SNCA, PSTPIP1, HK1, TJP2, FARS2, QDPR, ABCB11, NME8, TUBB4A, KIT, DHODH, SCYL1, IVD, NDUFV1, OTC, PEX1, ZAP70, KRT8, PTS, MTRR, TBCK, PRKCSH, TGFB1, PEPD, GATA6, KMT2D, NAGLU, EIF2AK3, STAT1, ATXN1, PLG, TP53, TINF2, IL6, SHMT1, OFD1, PCNA, APC, SMAD3, ALDH18A1, TNF, ESR1, NDUFS2, C10orf2, PDX1, DYRK1B, DDX59, F2, TNFRSF1A, DNAH11, SALL1, RAD21, IFIH1, FAS, SQSTM1, CENPF, PEX6, EFTUD2, CARS2, ATP6V1B2, AGT, IGKC, LEP, MTHFR, UBQLN2, DNAH5, RECQL4, WNT5A, EIF4A3, STK11, LIPE, WNK1, ITCH, SETX, PPP1R15B, PIK3CA, GFM1, ABCD1, SPAG1, HADHA, MTO1, TBK1, PRKAG2, SIK1, NUBPL, ACTA1, GRIP1, SMARCA4, SCNN1G, CDKL5, IRAK3, IGF2, NOS3, DCLRE1C, CCND1, MAPT, CAD, ACVRL1, SCNN1A, HNRNPK, GALT, ABCA1, JAK2, PLOD1, PSMB8, GUCY1A3, MET, NFKBIA, ACAD9, PFKM, DPYD, GUCY2C, GSC, ATP8B1, RPS6KA3, WAS, INS, CDON, DNAH8, ITGB3, HPRT1, AMHR2, SLC22A5, HLA-DRB1, CNTN1, TXN2, VHL, BCS1L, RAPSN, KIF1B, CLCN1, PPOX, TMEM165, BIN1, KLF1, RPSA, DBT, MCCC1, TTN, AQP2, FGFR3, ABCD3, CFTR, VPS13A, FAH, SSR4, ATXN2, SMARCB1, CD40LG, PRKCD, PUF60, PHKG2, KCNJ10, PANK2, JAK3, TBP, ATP7A, ITGB4, ERCC4, DKC1, NEK1, SAMHD1, TCF4, POLE, UQCRB, PDE10A, ZHX2, ABCC9, FTH1, ACD, STRADA, TARS2, MOCS1, HRAS, CISD2, OCLN, VPS45, TRIM37, DHFR, PLAU, BRCA2, MARS2, HLCS, OPLAH, DIS3L2, COL1A1, ACOX1, PABPN1, PIGT, DNM2, YARS2, MLH1, RNASEH1, PPARG, AGL, BTK, KCNN4, NCF4, CLASP1, NEU1, TRIM32, AARS, AFG3L2, ERCC2, CPS1, ABCC2, CHD7, KRAS, RBM8A, GLUD2, CPOX, LMNB1, TARDBP, AKT2, BCKDHA, MEGF10, KRT18, IKBKAP, MRPL44, ASS1, TSFM, MYH8, NCF2, EP300, TAF1, AP1S1, GCDH, RTEL1, CLPB, ARL6, KIF1A, ABCG5, ITK, ACADVL, SEC23B, SPATA5, ABCC8, PCK1, PLIN1, LARS, TTR, KCNJ11, GJA1, INPP5E, HNF4A, RPS28, MECP2, MVK, CASR, GCK, SMARCAL1, BBS10, GALE, NDUFS1, MRPL3, CARD11, MED12, GYS1, SEC63, PHOX2B, MED17, MAP2K2, MCM4, CDKN1C, ATP7B, MUSK, ACADM, CHRM3, DDOST, AXIN1, PNPT1, SUMF1, CYC1, LCK, NME1, FLNA, DNAJC13, POLR3A, RAB23, HSD17B4, HPCA, ORC1, INSR, NOTCH1, PITX2, MSH2, FGFR2, FBP1, MUT, MARS, RPL11, GCH1, PDGFRA, L1CAM, RET, PEX19, NTF3, PTEN, POLR2F, FASLG, RARS2, DNMT3B, SAR1B, MYH11, NHP2, KDR, PC, PIK3R1

SUPRANUCLEAR PALSY, PROGRESSIVE, OTOPALATODIGITAL SYNDROME, TYPE II, PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT, PORPHYRIA, ACUTE INTERMITTENT, SELECTIVE T-CELL DEFECT, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IX, HERMANSKY-PUDLAK SYNDROME 1, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ?REYNOLDS SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, GAUCHER DISEASE, TYPE IIIC, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, ADAMS-OLIVER SYNDROME 5, BECKWITH-WIEDEMANN SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LIPOYLTRANSFERASE 1 DEFICIENCY, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, ANGELMAN SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, FLOATING-HARBOR SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, ?TETRA-AMELIA SYNDROME, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, WAARDENBURG SYNDROME, TYPE 4C, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TYROSINEMIA, TYPE I, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, TRIFUNCTIONAL PROTEIN DEFICIENCY, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, CILIARY DYSKINESIA, PRIMARY, 6, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, COWDEN SYNDROME 7, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ?PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, HEMOLYTIC ANEMIA DUE TO HEXOKINASE DEFICIENCY, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, MEIER-GORLIN SYNDROME 2, CORNELIA DE LANGE SYNDROME 5, HEMOCHROMATOSIS TYPE 1, HYPER-IGD SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CRANIOLENTICULOSUTURAL DYSPLASIA, MECONIUM ILEUS, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, LEBER CONGENITAL AMAUROSIS 1, LEUKODYSTROPHY, ADULT-ONSET, AUTOSOMAL DOMINANT, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, ZIMMERMANN-LABAND SYNDROME 1, HMG-COA SYNTHASE-2 DEFICIENCY, HOLOPROSENCEPHALY 11, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, CPT DEFICIENCY, HEPATIC, TYPE II, COENZYME Q10 DEFICIENCY, PRIMARY, 3, LATERAL MENINGOCELE SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, GLANZMANN THROMBASTHENIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, NOONAN SYNDROME 7, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, CAUDAL REGRESSION SYNDROME, ORNITHINE TRANSCARBAMYLASE DEFICIENCY, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, LIVER FAILURE, TRANSIENT INFANTILE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5, ?DIARRHEA 7, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, GAUCHER DISEASE, PERINATAL LETHAL, GLYCOGEN STORAGE DISEASE VI, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1, MEDNIK SYNDROME, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, MYOTONIC DYSTROPHY 1, NIJMEGEN BREAKAGE SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3, MELNICK-NEEDLES SYNDROME, HOLOPROSENCEPHALY-7, D-BIFUNCTIONAL PROTEIN DEFICIENCY, MACHADO-JOSEPH DISEASE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MEIER-GORLIN SYNDROME 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), HYPOPHOSPHATASIA, INFANTILE, MUCOLIPIDOSIS II ALPHA/BETA, KABUKI SYNDROME 2, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, SHPRINTZEN-GOLDBERG SYNDROME, DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE, CORPUS CALLOSUM, PARTIAL AGENESIS OF, GM1-GANGLIOSIDOSIS, TYPE I, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OLIGODONTIA-COLORECTAL CANCER SYNDROME, CUTIS LAXA, AUTOSOMAL DOMINANT 3, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, MULIBREY NANISM, DYSKERATOSIS CONGENITA, X-LINKED, OCCIPITAL HORN SYNDROME, COFFIN-SIRIS SYNDROME 3, AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA, PSEUDOHYPOALDOSTERONISM, TYPE I, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), ALPHA-METHYLACETOACETIC ACIDURIA, SADDAN, OPSISMODYSPLASIA, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, MENTAL RETARDATION, X-LINKED 98, GAUCHER DISEASE, TYPE I, LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, JOUBERT SYNDROME 10, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, NON-IMMUNE HYDROPS FETALIS, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B, PROLIDASE DEFICIENCY, EVEN-PLUS SYNDROME, TRICHOHEPATOENTERIC SYNDROME 1, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, CHANARIN-DORFMAN SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, B CELL-NEGATIVE, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, SPINOCEREBELLAR ATAXIA 1, LACTASE PERSISTENCE/NONPERSISTENCE, BRITTLE CORNEA SYNDROME 2, ALAGILLE SYNDROME, FRAGILE X TREMOR/ATAXIA SYNDROME, POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 3, GLYCOGEN STORAGE DISEASE VII, THROMBOPHILIA DUE TO ANTITHROMBIN III DEFICIENCY, ?IMMUNODEFICIENCY 22, NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3, HYPEREKPLEXIA HEREDITARY, CORNELIA DE LANGE SYNDROME 2, ROBINOW SYNDROME, LOEYS-DIETZ SYNDROME 5, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, POLYCYSTIC LIVER DISEASE, GLYCOGEN STORAGE DISEASE IIIB, GLYCOGEN STORAGE DISEASE IIIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SESAME SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, MUCOPOLYSACCHARIDOSIS, MPS-III-A, ?MICROPHTHALMIA, SYNDROMIC 1, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, ADAMS-OLIVER SYNDROME 4, PYRUVATE CARBOXYLASE DEFICIENCY, GALLBLADDER DISEASE 1, LESCH-NYHAN SYNDROME, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, DYSTONIA 16, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, GLYCOGEN STORAGE DISEASE 0, MUSCLE, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 12}, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, METHYLMALONIC ACIDURIA, MUT(0) TYPE, CPT II DEFICIENCY, LETHAL NEONATAL, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, GAUCHER DISEASE, TYPE II, HERMANSKY-PUDLAK SYNDROME 7, BASAL CELL NEVUS SYNDROME, GLYCOGEN STORAGE DISEASE IV, IMMUNODEFICIENCY 15, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, DIARRHEA 6, AMISH INFANTILE EPILEPSY SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, ?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, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, GLYCINE N-METHYLTRANSFERASE DEFICIENCY, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, KAUFMAN OCULOCEREBROFACIAL SYNDROME, LOEYS-DIETZ SYNDROME 2, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), CENTRONUCLEAR MYOPATHY 5, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, PCWH SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, JOHANSON-BLIZZARD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEVALONIC ACIDURIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26, {PSEUDOXANTHOMA ELASTICUM, MODIFIER OF SEVERITY OF}, PSEUDOXANTHOMA ELASTICUM, LEPRECHAUNISM, SPLENIC HYPOPLASIA, MECKEL SYNDROME 10, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, GREENBERG SKELETAL DYSPLASIA, CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 3, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PARKINSON DISEASE 1, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, YUNIS-VARON SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, MICROPHTHALMIA, SYNDROMIC 12, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, OHDO SYNDROME, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, COMBINED SAP DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 17, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, POLYCYTHEMIA VERA, SOMATIC, ROBERTS SYNDROME, KAPPA LIGHT CHAIN DEFICIENCY, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY, GLYCOGEN STORAGE DISEASE IXC, COFFIN-SIRIS SYNDROME 4, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, METHYLMALONIC ACIDURIA CBLB TYPE, VISCERAL MYOPATHY, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, IMMUNODEFICIENCY DUE TO PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, WISKOTT-ALDRICH SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, ALAGILLE SYNDROME 2, CORNELIA DE LANGE SYNDROME 1, COENZYME Q10 DEFICIENCY, PRIMARY, 1, MEIER-GORLIN SYNDROME 4, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, GALACTOSE EPIMERASE DEFICIENCY, COPROPORPHYRIA, HARDEROPORPHYRIA, FIBROCHONDROGENESIS 2, OPITZ-KAVEGGIA SYNDROME, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, AGAMMAGLOBULINEMIA 4, MCKUSICK-KAUFMAN SYNDROME, CPT DEFICIENCY, HEPATIC, TYPE IA, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, GLYCOGEN STORAGE DISEASE IA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, SMED STRUDWICK TYPE, MUIR-TORRE SYNDROME, OROFACIODIGITAL SYNDROME I, CARBAMOYLPHOSPHATE SYNTHETASE I DEFICIENCY, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, AICARDI-GOUTIERES SYNDROME 5, CONGENITAL DISORDER OF DEGLYCOSYLATION, RUBINSTEIN-TAYBI SYNDROME 2, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, 3-M SYNDROME 1, ?IMMUNODEFICIENCY 37, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, INTERSTITIAL LUNG AND LIVER DISEASE, TRANSALDOLASE DEFICIENCY, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CARDIOFACIOCUTANEOUS SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1, GLUTARIC ACIDURIA III, SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT, AGAMMAGLOBULINEMIA, X-LINKED 1, GLYCOGEN STORAGE DISEASE XII, STROMME SYNDROME, PETERS-PLUS SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, BURN-MCKEOWN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, TRIGONOCEPHALY 1, SMITH-LEMLI-OPITZ SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, COENZYME Q10 DEFICIENCY, PRIMARY, 7, TATTON-BROWN-RAHMAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, ?RENAL-HEPATIC-PANCREATIC DYSPLASIA 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12, ARTS SYNDROME, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), PYRUVATE KINASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, LENZ-MAJEWSKI HYPEROSTOTIC DWARFISM, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, MULTIPLE ENDOCRINE NEOPLASIA IIA, ROTHMUND-THOMSON SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, MULTIPLE ENDOCRINE NEOPLASIA 1, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE, ARGININEMIA, TENORIO SYNDROME, PANCREATIC AGENESIS 1, WEAVER SYNDROME, FUMARASE DEFICIENCY, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, CORNELIA DE LANGE SYNDROME 4, OTOPALATODIGITAL SYNDROME, TYPE I, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, GLYCOGEN STORAGE DISEASE, TYPE IXA1, GLYCOGEN STORAGE DISEASE, TYPE IXA2, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, CORNELIA DE LANGE SYNDROME 3, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, KNIEST DYSPLASIA, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, COFFIN-SIRIS SYNDROME 1, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, LYMPHOPROLIFERATIVE SYNDROME 1, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, NEPHRONOPHTHISIS 14, JOUBERT SYNDROME 19, GENITOPATELLAR SYNDROME, GAUCHER DISEASE, TYPE III, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, HYPERPARATHYROIDISM, NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE IIA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, GALACTOSEMIA, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, ENCEPHALOPATHY, NEONATAL SEVERE, FANCONI ANEMIA, COMPLEMENTATION GROUP L, EHLERS-DANLOS SYNDROME, TYPE IV, SCHAAF-YANG SYNDROME, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, WOLCOTT-RALLISON SYNDROME, HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY, DIABETES INSIPIDUS, NEPHROGENIC, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, MISMATCH REPAIR CANCER SYNDROME, PHOSPHORYLASE KINASE DEFICIENCY OF LIVER AND MUSCLE, AUTOSOMAL RECESSIVE, GM1-GANGLIOSIDOSIS, TYPE III, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, LYMPHOPROLIFERATIVE SYNDROME 2, OMENN SYNDROME, HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DIAMOND-BLACKFAN ANEMIA 7, HAMAMY SYNDROME, MOLYBDENUM COFACTOR DEFICIENCY B, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, COFFIN-LOWRY SYNDROME, KABUKI SYNDROME 1, DYSAUTONOMIA, FAMILIAL, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY

TSC2, MSH6, LMNA, NGLY1, BCKDHB, LBR, WNT5A, CIITA, COL3A1, FTL, KRIT1, POLD1, EOGT, LRRK2, ALG3, CDC6, KDM6A, ENG, ESCO2, TERT, FH, NAGS, GNPTAB, G6PC, WNK1, GFI1B, TGFBR2, PIGM, EFNB1, LIPT1, EXOSC8, PRPS1, TRMT5, PTEN, SUGCT, PHKB, SIK1, APOA1, CDKN3, PHKA2, AR, THRA, BUB1B, IGF2R, SKIV2L, KIAA2022, TAF6, ALG11, PIK3CD, STT3A, SMARCE1, CCND1, JAK2, SUCLA2, SPEG, MKKS, HSPD1, ROR2, TNNT2, ALAS2, SUCLG1, KMT2A, DNMT3A, SMC3, ARG1, MT-CO1, GATA1, ALDOA, PRKRA, CTNNB1, IL2RA, NRAS, SUFU, XYLT2, SMAD4, DVL3, GNMT, CHST14, CD40LG, GDF2, NUP62, HES7, AKT1, RIPK4, INPPL1, LRPPRC, PRKCD, UBE3A, ABCB4, TRMU, COX15, PINK1, EZH2, HSPA9, GNE, CLDN1, NOD2, MCM6, ADK, POLA1, HMBS, PIGN, LRP5, HNRNPK, PIGA, SRCAP, GMPPA, BCL10, DMPK, STAT3, MT-CO2, NDUFS4, ALG1, FKRP, TNFAIP3, PARK2, BDNF, CHAT, POMK, FANCL, LRP2, ATXN3, SARS2, POLR3B, PDSS2, FBP1, PRDM5, HADHB, SKI, PEX14, SEC23A, APOB, ORC4, MMP1, NAA10, NHLRC1, ACTB, MOCS2, PSEN1, DGUOK, ALPL, B3GLCT, COL11A2, PTDSS1, NCF4, TSR2, ITGA2B, BAAT, HADH, BLNK, NEK8, DES, CDT1, NBN, CDC73, DLD, SLC9A3, CUL7, SF3B4, FIG4, MAP2K2, CREBBP, GUCY2D, PYGL, PKLR, MYCN, TTC37, FGFR1, CD3E, UBR1, FASTKD2, GTPBP3, B9D2, EARS2, MYOM1, KAT6B, MEN1, ACTA2, STX11, GPHN, NUBPL, BRAF, KAT6A, NFKB2, NCF1, PDGFRL, MMAB, SMAD9, SNIP1, MRPS16, GMPPB, UBE3B, BMP2, NDN, SMC1A, GBE1, TXNL4A, VDR, ASCL1, DVL1, ATXN1, AXIN2, TP53, EGFR, IKBKB, CASP8, UBQLN2, PSTPIP1, DGAT1, HK1, FARS2, COQ4, KCNH1, NME8, KIT, SCYL1, OCLN, OTC, PTS, TBCK, B3GAT3, TGFB1, TYMP, FTH1, KMT2D, CARD11, MTR, MUT, NOS3, PLG, TINF2, IL6, SHMT1, OFD1, PCNA, APC, VPS35, SNCA, SMAD3, ALDH18A1, HSPG2, TNF, ESR1, C10orf2, PDX1, DYRK1B, F2, RAD21, FAS, SQSTM1, CENPF, EFTUD2, AGT, IGKC, LEP, PSAT1, ZNF423, RECQL4, IRX5, EIF4A3, PIGC, STK11, LIPE, CDKN1C, PNPLA2, PIK3CA, LTBP4, ST3GAL5, JAG1, HADHA, CPT2, TBK1, COL2A1, RARB, ACTA1, GRIP1, SMARCA4, SCNN1G, NDUFAF6, CDKL5, ABCB11, IRAK3, IGF2, NOTCH2, MAPT, CAD, SCNN1A, GALT, ABCA1, ICOS, HGSNAT, SNCAIP, MET, NFKBIA, TALDO1, PFKM, TNFRSF1A, GUCY2C, GSC, RPS6KA3, WAS, INS, CDON, COL7A1, ITGB3, PPARG, HPRT1, AMHR2, TJP2, CNTN1, GALNT14, VHL, HNF4A, KIF1B, FKBP14, HIBCH, PSAP, COQ2, KLF1, FBN1, RPSA, DBT, DPM2, TTN, AQP2, FGFR3, POLG2, CFTR, SOX10, FAH, SERPINC1, SMARCB1, HDAC8, MYH7, DPM1, WNT3, PHKG2, KCNJ10, PANK2, JAK3, TBP, ATP7A, XYLT1, DKC1, NEK1, SAMHD1, PEPD, POLE, RBCK1, GBA, ZHX2, ACD, STRADA, PIGV, HRAS, POLG, EIF2AK3, NDUFAF5, AGPAT2, ZAP70, ACVR1B, TRIM37, HMGCS2, ISPD, ALG13, BRCA2, COL1A1, ORC1, RAG1, PIGT, DNM2, GLB1, MLH1, ACAT1, AGL, STT3B, VANGL1, SLC35A2, BTK, KCNN4, CLASP1, NEU1, ALG2, TRIM32, PIGO, CPS1, ABHD5, PTCH1, CHD7, KRAS, NKX2-5, CPOX, LMNB1, TPM3, TRMT10A, AKT2, CPT1A, BCKDHA, KRT18, IKBKAP, MRPL44, CD27, STAT1, ELOVL4, FMR1, PMS2, EP300, TAF1, AP1S1, CLPB, NOTCH3, ITK, SEC23B, TXN2, PLIN1, TTR, GPC3, GJA1, INPP5E, BCS1L, MECP2, MVK, TGFB3, CASR, GCK, FOXP3, GALE, NDUFS1, MRPL3, DTNBP1, MED12, GYS1, PHOX2B, PLAU, MAGEL2, ITCH, DNMT3B, MUSK, ACVRL1, DDOST, AXIN1, PNPT1, SUMF1, LCK, NME1, FLNA, BIN1, HCCS, HSD17B4, DHCR7, HPCA, AMH, NSD1, EXT2, POLR3A, INSR, NOTCH1, SERPINH1, PITX2, MSH2, FGFR2, PACS1, MARS, RPL11, GCH1, PDGFRA, L1CAM, RET, PEX19, PNP, POLR2F, FASLG, RNF125, CYC1, MYH11, KDR, PC, COX10, PORCN, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, ?DYSTONIA, JUVENILE-ONSET, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, LEUKODYSTROPHY, HYPOMYELINATING, 4, POLYCYTHEMIA VERA, SOMATIC, ROBERTS SYNDROME, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, ALPHA-METHYLACETOACETIC ACIDURIA, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, BECKWITH-WIEDEMANN SYNDROME, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, CPT DEFICIENCY, HEPATIC, TYPE IA, FANCONI ANEMIA, COMPLEMENTATION GROUP D1, HAJDU-CHENEY SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, LIPOYLTRANSFERASE 1 DEFICIENCY, CPT DEFICIENCY, HEPATIC, TYPE II, TRIFUNCTIONAL PROTEIN DEFICIENCY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY, FOCAL DERMAL HYPOPLASIA, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, CHANARIN-DORFMAN SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, CORNELIA DE LANGE SYNDROME 3, MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, D-BIFUNCTIONAL PROTEIN DEFICIENCY, COFFIN-SIRIS SYNDROME 1, PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, FLOATING-HARBOR SYNDROME, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), GENITOPATELLAR SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, STRIATONIGRAL DEGENERATION, INFANTILE, MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA), RUBINSTEIN-TAYBI SYNDROME 2, ?TETRA-AMELIA SYNDROME, HMG-COA SYNTHASE-2 DEFICIENCY, ?MICROPHTHALMIA, SYNDROMIC 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ALAGILLE SYNDROME 2, ?DIARRHEA 7, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, CPT II DEFICIENCY, LETHAL NEONATAL, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, RUBINSTEIN-TAYBI SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, ?IMMUNODEFICIENCY 22, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, ROBINOW SYNDROME, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, CHOROID PLEXUS PAPILLOMA

ACTA1, LCK, PEX14, ACTB, NAGS, TAF1, VHL, WNT5A, TP53, NDUFS1, HCCS, SMAD4, CREBBP, HSD17B4, NOTCH2, BRCA2, WNT3, TGFB1, PEX19, SRCAP, PPARG, SUCLG1, AGPAT2, KRAS, F2, TNF, CIITA, HADHB, ACAT1, HMGCS2, NUP62, PCNA, LEP, PSEN1, DBT, HADHA, SMARCA4, ESR1, BAAT, SMARCE1, HGSNAT, IL6, JAK2, ESCO2, SUCLA2, ABHD5, PNPLA2, KAT6B, EP300, TBP, CHAT, HSPD1, SMC3, CDKN1C, CDC73, DGAT1, ACTA2, DLD, KAT6A, ALAS2, SMAD3, CPT2, BIN1, CPT1A, NOD2, NAA10, LIPT1, POLA1, C10orf2, POLD1, CTNNB1, PORCN, INS, NUBPL

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY, SHPRINTZEN-GOLDBERG SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, POLYCYTHEMIA VERA, SOMATIC, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MULTIPLE ENDOCRINE NEOPLASIA IIA, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, SELECTIVE T-CELL DEFECT, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, GELEOPHYSIC DYSPLASIA 2, BEARE-STEVENSON CUTIS GYRATA SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, LYMPHOPROLIFERATIVE SYNDROME 1, COWDEN SYNDROME 7, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, COFFIN-LOWRY SYNDROME, APERT SYNDROME, AGAMMAGLOBULINEMIA, X-LINKED 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, COMBINED SAP DEFICIENCY, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, TRIGONOCEPHALY 1, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SADDAN, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, METACHROMATIC LEUKODYSTROPHY DUE TO SAP-B DEFICIENCY, PROTEUS SYNDROME, SOMATIC

LCK, DYRK1B, PDGFRL, FGFR3, PSAP, PRKCD, MAP2K2, IGF2, IGF2R, SQSTM1, JAK3, F2, AGT, FGFR1, NEK1, INSR, NCF4, AKT2, AKT1, BTK, TP53, AXIN1, FGFR2, PACS1, KDR, CCND1, MET, JAK2, UBE3A, FASLG, PDGFRA, KIT, FBN1, RET, POLD1, ROR2, EGFR, ITK, GFI1B, MUSK, ZAP70, RPS6KA3, STAT3, SKI, SEC23B, PLG, HRAS, MMP1, SCYL1, PIK3R1

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, CEREBRAL CREATINE DEFICIENCY SYNDROME 1, BARTTER SYNDROME, TYPE 2, WILSON DISEASE, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MELNICK-NEEDLES SYNDROME, ACRODERMATITIS ENTEROPATHICA, TRANSALDOLASE DEFICIENCY, ZIMMERMANN-LABAND SYNDROME 1, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, HYPOPHOSPHATASIA, INFANTILE, STORMORKEN SYNDROME, TRIGONOCEPHALY 1, BILE ACID MALABSORPTION, PRIMARY, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL CYSTS AND DIABETES SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, LEUKODYSTROPHY, HYPOMYELINATING, 4, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PAROXYSMAL EXTREME PAIN DISORDER, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 1, PARKINSONISM-DYSTONIA, INFANTILE, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, LOEYS-DIETZ SYNDROME 3, OCCIPITAL HORN SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, GLUCOSE/GALACTOSE MALABSORPTION, PSEUDOHYPOALDOSTERONISM, TYPE I, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, AXENFELD-RIEGER SYNDROME, TYPE 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HERMANSKY-PUDLAK SYNDROME 2, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, MUCOLIPIDOSIS IV, THYROID DYSHORMONOGENESIS 1, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, CORNELIA DE LANGE SYNDROME 3, OTOPALATODIGITAL SYNDROME, TYPE I, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, SPINOCEREBELLAR ATAXIA 19, HOLOPROSENCEPHALY 11, HEMOCHROMATOSIS, TYPE 4, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, EPISODIC ATAXIA, TYPE 6, OLMSTED SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, ?IMMUNODEFICIENCY 22, LEBER CONGENITAL AMAUROSIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?PRUNE BELLY SYNDROME, PARAMYOTONIA CONGENITA, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MENTAL RETARDATION, X-LINKED SYNDROMIC, CHRISTIANSON TYPE, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, ULNAR-MAMMARY SYNDROME, 3MC SYNDROME 1, HYPOBETALIPOPROTEINEMIA, HYPOMAGNESEMIA 3, RENAL, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, SPINOCEREBELLAR ATAXIA 42, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, PROTEUS SYNDROME, SOMATIC

TSC2, APOB, PKD1, ACTB, NALCN, SQSTM1, PSEN1, ALPL, TBX3, AGT, SLC6A3, SLC5A5, SLC6A8, EFEMP2, FGG, ADCY6, SLC9A3, TRPV3, SCN4A, SCN11A, SCNN1G, SERPINA1, ABCB11, GUCY2D, SLC34A3, NOS3, SHMT1, CCND1, TNF, RYR1, FGFR1, SCNN1A, KCND3, GJA1, KCNJ1, SUCLA2, TALDO1, CNTN5, HSPD1, TNFRSF1A, SLC1A3, STX11, CLDN16, STAT3, ACD, ABCC8, SMC3, STIM1, KCNJ11, CACNA1G, CTNNB1, KCNN4, HNF1B, MCOLN1, SCNN1B, SMAD9, TJP2, CNTN1, PITX2, SLC9A6, CHRNE, AKT1, CFTR, ATXN1, PRKCD, SLC5A1, SEC63, LRP2, SCN1A, ATP7B, PTEN, KCNH1, CHRM3, CDON, LCK, FLNA, SLC40A1, MASP1, HCCS, KCNJ10, TGFB1, SLC39A4, ATP7A, SCN9A, TP53, ABCC9, L1CAM, INS, PCNA, PAM16, EGFR, SLC10A2, AP3B1, SMAD3, ESR1, KDR

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, LOEYS-DIETZ SYNDROME 5, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, MYOPATHY, MYOFIBRILLAR, 1, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, HETEROTAXY, VISCERAL, 5, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, HMG-COA SYNTHASE-2 DEFICIENCY, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADA DEFICIENCY, ADENOSINE DEAMINASE DEFICIENCY, PARTIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NON-IMMUNE HYDROPS FETALIS, DIAMOND-BLACKFAN ANEMIA 8, ?DYSTONIA, JUVENILE-ONSET, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ANGIOEDEMA, HEREDITARY, TYPES I AND II, CORNELIA DE LANGE SYNDROME 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, ANGIOEDEMA, HEREDITARY, TYPE III, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, TRYPSINOGEN DEFICIENCY, 3MC SYNDROME 1, HYPOBETALIPOPROTEINEMIA, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, VISCERAL MYOPATHY, IRON-REFRACTORY IRON DEFICIENCY ANEMIA, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, KAPPA LIGHT CHAIN DEFICIENCY, PORPHYRIA VARIEGATA, {PORPHYRIA VARIEGATA, SUSCEPTIBILITY TO}, PORPHYRIA CUTANEA TARDA, PORPHYRIA, HEPATOERYTHROPOIETIC, {PORPHYRIA CUTANEA TARDA, SUSCEPTIBILITY TO}, CYSTINOSIS, ATYPICAL NEPHROPATHIC, CYSTINOSIS, NEPHROPATHIC, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, OBESITY WITH IMPAIRED PROHORMONE PROCESSING, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, CODAS SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, {CELIAC DISEASE, SUSCEPTIBILITY TO}, RUBINSTEIN-TAYBI SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, TANGIER DISEASE, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HEMOCHROMATOSIS, TYPE 2B, PROTEUS SYNDROME, SOMATIC

PCSK1, AR, TMPRSS6, SMAD3, APOB, NODAL, PRSS1, PLAU, SMAD4, RAD21, GP9, NME1, IGF2, IGF2R, CTNS, NOS3, COL1A1, CD40LG, MMP1, TGFB3, F2, AGT, TGFB1, IGKC, BMP2, LEP, IL6, PLG, AKT1, ABCA1, FGA, CREBBP, LONP1, HLA-DQA1, DVL1, MASP1, TP53, TERT, CASP8, NEU1, DES, F12, APC, FKBP14, EGFR, ACTA2, ADA, ACTB, RPS7, MYH11, SERPINA1, HAMP, HSPG2, TNF, STAT3, KDR, INS, HFE, GDF2, SERPING1, HMGCS2

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BASAL CELL NEVUS SYNDROME, CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2, VERHEIJ SYNDROME, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, FRASER SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, COCKAYNE SYNDROME, TYPE A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ADAMS-OLIVER SYNDROME 6, DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, SPLENIC HYPOPLASIA, INFANTILE-ONSET MULTISYSTEM NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MACHADO-JOSEPH DISEASE, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), OHDO SYNDROME, X-LINKED, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIM, HYPOPHOSPHATASIA, INFANTILE, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, ULNAR-MAMMARY SYNDROME, KABUKI SYNDROME 2, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, TRIGONOCEPHALY 1, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, DIAPHANOSPONDYLODYSOSTOSIS, WIEDEMANN-STEINER SYNDROME, ALAGILLE SYNDROME 2, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, {AUTISM, SUSCEPTIBILITY TO, 18}, MICROPHTHALMIA, SYNDROMIC 2, BECKWITH-WIEDEMANN SYNDROME, LOEYS-DIETZ SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LACTASE PERSISTENCE/NONPERSISTENCE, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, FEINGOLD SYNDROME, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, CRANIOFRONTONASAL DYSPLASIA, ABDOMINAL OBESITY-METABOLIC SYNDROME 3, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE II, PERSISTENT MULLERIAN DUCT SYNDROME, TYPE I, BOHRING-OPITZ SYNDROME, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, VELOCARDIOFACIAL SYNDROME, AGNATHIA-OTOCEPHALY COMPLEX, ANGELMAN SYNDROME, IMMUNODEFICIENCY 19, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, ROTHMUND-THOMSON SYNDROME, COFFIN-SIRIS SYNDROME 3, FLOATING-HARBOR SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, RETINITIS PIGMENTOSA WITH OR WITHOUT SITUS INVERSUS, CORNELIA DE LANGE SYNDROME 2, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, EMPHYSEMA DUE TO AAT DEFICIENCY, HEMORRHAGIC DIATHESIS DUE TO \'ANTITHROMBIN\' PITTSBURGH, EMPHYSEMA-CIRRHOSIS, DUE TO AAT DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA 1, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 17, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, WAARDENBURG SYNDROME, TYPE 4C, COFFIN-SIRIS SYNDROME 4, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, BANNAYAN-RILEY-RUVALCABA SYNDROME, DIGEORGE SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMMON VARIABLE IMMUNODEFICIENCY 1, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, ?DYSTONIA, JUVENILE-ONSET, BALLER-GEROLD SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 2, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, FRAGILE X TREMOR/ATAXIA SYNDROME, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, COFFIN-SIRIS SYNDROME 2, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, GENITOPATELLAR SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, TARP SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, LEIGH SYNDROME, FRENCH-CANADIAN TYPE, ?CHARGE SYNDROME, CHARGE SYNDROME, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, ACHONDROGENESIS, TYPE IA, PCWH SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, CORNELIA DE LANGE SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, COPROPORPHYRIA, HARDEROPORPHYRIA, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, OPITZ-KAVEGGIA SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, MUIR-TORRE SYNDROME, IVIC SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, KARTAGENER SYNDROME, RETT SYNDROME, CONGENITAL VARIANT, DYSAUTONOMIA, FAMILIAL, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, KABUKI SYNDROME 1, CHEDIAK-HIGASHI SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

DYRK1B, PEX14, DLL4, PARK7, CD3D, SALL1, ACTB, CIITA, SMARCA4, TBX3, AGT, MCM6, PPARG, MCIDAS, RECQL4, WNT5A, TRIP4, KMT2A, CHD8, FMR1, PTRH2, BCOR, TRIP11, CDC6, TRIM32, NEUROG3, BMPER, GFI1B, TGFBR2, CREBBP, SIK1, CTNNB1, SF3B4, PTEN, ACTA1, SHOC2, GRIP1, KRAS, AXIN2, CASP8, NKX2-5, AR, LYST, NOTCH2, MYCN, TNF, FGFR1, PRRX1, TAF6, AKT2, CPOX, RFXAP, JAK2, GJA1, SMARCE1, IKBKAP, CCND1, NFKBIA, RBM10, ARL2BP, GDNF, GLIS3, MEN1, EP300, TAF1, ROR2, EZH2, NTF3, TSHB, GSC, BDNF, RBBP8, STAT3, ERCC8, TBX1, INS, KAT6B, SMC3, PITX2, PAX8, GATA1, ALPL, VHL, SLC35A2, SUFU, STX11, SMAD4, DVL3, CHAT, MECP2, CD40LG, CHD7, NFKB2, PQBP1, HNF4A, RAPSN, BMP2, FOXP3, AKT1, SOX2, AXIN1, VDR, ASCL1, LRPPRC, ATXN1, TP53, UBE3A, PEX19, ARID1B, RPSA, GLI3, SMC1A, ITCH, HSPA9, EFNB1, NONO, SERPINA1, ABCB11, KDM6A, GDF2, LCK, ATXN2, SLC2A1, SMARCB1, PRKCD, HNRNPK, NOTCH1, ASXL1, NOS3, PUF60, TGFB1, FOXG1, RFXANK, AMH, TBP, KLF1, BCL10, NSD1, STAT1, TCF4, SRCAP, MED12, MSH2, IL6, SALL4, ZHX2, THRA, SLC26A3, PCNA, KMT2D, CTCF, KAT6A, HRAS, MED17, EGFR, ATXN3, DNMT3B, NHP2, SMAD3, ARID1A, ESR1, PIK3R1, KDR, SOX10, SKI

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, FRASER SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 34, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, ADAMS-OLIVER SYNDROME 6, COCKAYNE SYNDROME, TYPE B, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, WAARDENBURG SYNDROME, TYPE 4A, MELNICK-NEEDLES SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME, OPITZ GBBB SYNDROME, TYPE II, MITCHELL-RILEY SYNDROME, DYSAUTONOMIA, FAMILIAL, HYPOPHOSPHATASIA, INFANTILE, SPLENIC HYPOPLASIA, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, KABUKI SYNDROME 2, HOLOPROSENCEPHALY-7, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DUANE-RADIAL RAY SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, PITT-HOPKINS SYNDROME, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, MEIER-GORLIN SYNDROME 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 32, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, RENAL CYSTS AND DIABETES SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, LISSENCEPHALY, X-LINKED 2, HYDRANENCEPHALY WITH ABNORMAL GENITALIA, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, ULNAR-MAMMARY SYNDROME, MICROPHTHALMIA, SYNDROMIC 2, {DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, TATTON-BROWN-RAHMAN SYNDROME, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, PANCREATIC AND CEREBELLAR AGENESIS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, HYPOALDOSTERONISM, CONGENITAL, DUE TO CMO I DEFICIENCY, HEMOCHROMATOSIS, TYPE 2B, PARKINSON DISEASE 1, DYSKERATOSIS CONGENITA, X-LINKED, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, ANGELMAN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COFFIN-SIRIS SYNDROME 3, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MICROPHTHALMIA, SYNDROMIC 12, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, 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, ALPHA-METHYLACETOACETIC ACIDURIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, MULTIPLE ENDOCRINE NEOPLASIA 1, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA, BLEEDING DISORDER, PLATELET-TYPE, 17, IVIC SYNDROME, WAARDENBURG SYNDROME, TYPE 4C, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, COFFIN-SIRIS SYNDROME 4, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PANCREATIC AGENESIS 1, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, EVEN-PLUS SYNDROME, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, {COLORECTAL CANCER, SUSCEPTIBILITY TO, 10}, CORNELIA DE LANGE SYNDROME 4, DIGEORGE SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, GLYCOGEN STORAGE DISEASE IA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, BRITTLE CORNEA SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 31, WIEDEMANN-STEINER SYNDROME, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, DIARRHEA 4, MALABSORPTIVE, CONGENITAL, PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER), AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, GENITOPATELLAR SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, ?CHARGE SYNDROME, CHARGE SYNDROME, CORNELIA DE LANGE SYNDROME 5, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CORNELIA DE LANGE SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, BECKWITH-WIEDEMANN SYNDROME, ENCEPHALOPATHY, NEONATAL SEVERE, OHDO SYNDROME, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, COPROPORPHYRIA, HARDEROPORPHYRIA, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, OPITZ-KAVEGGIA SYNDROME, VELOCARDIOFACIAL SYNDROME, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, SMED STRUDWICK TYPE, MUIR-TORRE SYNDROME, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, GLUCOSE-6-PHOSPHATE TRANSPORT DEFECT, RETT SYNDROME, CONGENITAL VARIANT, HYPOBETALIPOPROTEINEMIA, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, PANCREATIC AGENESIS 2, MAPLE SYRUP URINE DISEASE, TYPE IA, MAPLE SYRUP URINE DISEASE, TYPE II, MAPLE SYRUP URINE DISEASE, TYPE IB, PALLISTER-HALL SYNDROME, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, APERT SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CODAS SYNDROME, KABUKI SYNDROME 1, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

DLL4, F2, APOB, COL1A1, SALL1, RAD21, CIITA, CYP11B2, TBX3, AGT, POLD1, ACAT1, NEUROG3, CDC6, BTK, WNT5A, TRIP4, MYH7, SALL4, ITCH, BCOR, ARX, PTRF, MMP1, G6PC, WNK1, CDC73, GFI1B, RFX6, TBK1, KRT18, COL2A1, SPECC1L, TGFBR2, RARB, PTCH1, GRIP1, SOX2, KDM6A, CASP8, NKX2-5, CREBBP, AR, LONP1, IGF2, NOTCH1, DNMT3A, THRA, PTF1A, BUB1B, TAF6, AKT2, CPOX, NFKBIA, SMARCE1, IKBKAP, CCND1, JAK2, KAT6B, MEN1, EP300, TAF1, NTF3, GSC, BDNF, CHD7, STAT3, KMT2A, TBX1, INS, GLIS3, KAT6A, PITX2, PAX8, GATA1, ALPL, PPARG, CTNNB1, HNF1B, SMAD4, PURA, SMAD9, GDNF, MECP2, STAT1, FLNA, PCK1, HNF4A, BMP2, FOXP3, AKT1, SMARCA4, AXIN1, VDR, ASCL1, CFTR, ATXN1, PRKCD, TP53, PHOX2B, IKBKB, EZH2, SKI, GLI3, DBT, SNCA, CDKN1C, HSPA9, PTEN, PAX4, ZEB2, CYP7B1, GDF2, AIRE, NME1, SLC2A1, SMARCB1, HDAC8, HNRNPK, FOXG1, TGFB1, NONO, GATA6, KMT2D, KLF1, NSD1, DKC1, NR4A2, TCF4, HAMP, MED12, MSH2, FGFR2, TINF2, IL6, FTH1, NKX3-2, PCNA, ERCC6, RET, TBP, CTCF, SUFU, FOXF1, EDNRB, EGFR, DNMT3B, SMAD3, TERT, PEX2, TNF, ESR1, PIK3R1, KDR, SOX10, PRDM5, PDX1

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, BASAL CELL NEVUS SYNDROME, SUPRANUCLEAR PALSY, PROGRESSIVE, IMMUNODEFICIENCY 15, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DIARRHEA 6, STAR SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MELNICK-NEEDLES SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HERMANSKY-PUDLAK SYNDROME 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, PITT-HOPKINS SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MEIER-GORLIN SYNDROME 5, OCULODENTODIGITAL DYSPLASIA, MECONIUM ILEUS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LACTASE PERSISTENCE/NONPERSISTENCE, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, PEUTZ-JEGHERS SYNDROME, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, ANGELMAN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COFFIN-SIRIS SYNDROME 3, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, GLANZMANN THROMBASTHENIA, STRIATONIGRAL DEGENERATION, INFANTILE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, BLEEDING DISORDER, PLATELET-TYPE, 17, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, COFFIN-SIRIS SYNDROME 4, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MEDNIK SYNDROME, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, CORNELIA DE LANGE SYNDROME 3, ?PRUNE BELLY SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, BANNAYAN-RILEY-RUVALCABA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OTOPALATODIGITAL SYNDROME, TYPE I, ?DYSTONIA, JUVENILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, VISCERAL MYOPATHY, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, FRAGILE X TREMOR/ATAXIA SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, COWDEN SYNDROME 7, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, ENCEPHALOPATHY, NEONATAL SEVERE, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, LOEYS-DIETZ SYNDROME 5, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, NEPHRONOPHTHISIS 15, CLOVE SYNDROME, SOMATIC, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MUIR-TORRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, LEUKODYSTROPHY, HYPOMYELINATING, 12, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ULNAR-MAMMARY SYNDROME, KARTAGENER SYNDROME, NOONAN SYNDROME 7, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, CAUDAL REGRESSION SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, GLYCOGEN STORAGE DISEASE 0, MUSCLE, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, CILIARY DYSKINESIA, PRIMARY, 29, SPINOCEREBELLAR ATAXIA 42, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CHEDIAK-HIGASHI SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, PROTEUS SYNDROME, SOMATIC

TSC2, FAM58A, APOB, PEX13, PKD1, ACTB, FAS, SQSTM1, PSEN1, EFTUD2, TBX3, AGT, MCM6, PPARG, SOX2, VANGL1, WNT5A, BTK, STK11, FMR1, ITCH, DNM2, PIK3CA, WNK1, EFEMP2, GFI1B, TGFBR2, SALL1, CREBBP, PRKAG2, COL2A1, CTNNB1, SF3B4, AQP2, ATRX, GRIP1, SIK1, AXIN2, MAP2K2, PTPRC, ADCY6, NME1, LYST, NOS3, PTRF, MAPT, BUB1B, TPM3, EDNRA, NOD2, CD3E, MEGF10, CCND1, MET, JAK2, STAT1, TALDO1, DVL1, EP300, TAF1, AP1S1, KRIT1, GUCY2C, GSC, PCNA, RPS6KA3, STAT3, SEC23B, ACD, SMC3, GATA1, ITGB3, CACNA1G, GJA1, SUFU, SMAD4, USP9X, DVL3, MECP2, CD40LG, TGFB3, FLNA, CASR, PITX2, NUP62, CEP164, FOXP3, AKT1, RIPK4, SMARCA4, AXIN1, VDR, MRPL3, DTNBP1, ATXN1, TP53, GYS1, UBE3A, EGFR, IKBKB, PLAU, EZH2, CDC6, SNCA, PSTPIP1, TTN, ACTA2, PTEN, MUSK, BRAF, ACVRL1, DDOST, ZEB2, KIT, CYC1, POLA1, LCK, AR, CCNO, DNAJC13, MYH11, SMARCB1, PRKCD, PINK1, PRKCSH, TNF, TGFB1, CHRM3, GATA6, TBP, CFTR, EIF2AK3, BCL10, WAS, VPS11, PARK2, TCF4, CARD11, NOTCH1, LIPE, MSH2, TINF2, JAK3, DOK7, L1CAM, INS, BDNF, APC, HRAS, FTH1, LRP2, ATXN3, OCLN, SMAD3, TERT, CAD, ESR1, SKI, KDR, PIK3R1

MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, BASAL CELL NEVUS SYNDROME, SUPRANUCLEAR PALSY, PROGRESSIVE, IMMUNODEFICIENCY 15, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, FRASER SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, DIARRHEA 6, STAR SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?HEMOCHROMATOSIS, TYPE 5, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MELNICK-NEEDLES SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, TRANSALDOLASE DEFICIENCY, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, MACHADO-JOSEPH DISEASE, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, HERMANSKY-PUDLAK SYNDROME 1, TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, PITT-HOPKINS SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, WIEDEMANN-STEINER SYNDROME, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MEIER-GORLIN SYNDROME 5, OCULODENTODIGITAL DYSPLASIA, MECONIUM ILEUS, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, LACTASE PERSISTENCE/NONPERSISTENCE, MISMATCH REPAIR CANCER SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MOWAT-WILSON SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, PEUTZ-JEGHERS SYNDROME, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, PARKINSON DISEASE 1, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4, LOEYS-DIETZ SYNDROME 3, ANGELMAN SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COFFIN-SIRIS SYNDROME 3, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, GLANZMANN THROMBASTHENIA, STRIATONIGRAL DEGENERATION, INFANTILE, IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED, AXENFELD-RIEGER SYNDROME, TYPE 1, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, MULTIPLE ENDOCRINE NEOPLASIA 1, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, BLEEDING DISORDER, PLATELET-TYPE, 17, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 6, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, COFFIN-SIRIS SYNDROME 4, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MEDNIK SYNDROME, POLYCYTHEMIA VERA, SOMATIC, WEAVER SYNDROME, CORNELIA DE LANGE SYNDROME 3, ?PRUNE BELLY SYNDROME, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 30, BANNAYAN-RILEY-RUVALCABA SYNDROME, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 6, OTOPALATODIGITAL SYNDROME, TYPE I, ?DYSTONIA, JUVENILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, VISCERAL MYOPATHY, ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES, KNIEST DYSPLASIA, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE II, FRAGILE X TREMOR/ATAXIA SYNDROME, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, COWDEN SYNDROME 7, WISKOTT-ALDRICH SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT, MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, GLYCOGEN STORAGE DISEASE VII, CORNELIA DE LANGE SYNDROME 1, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ?IMMUNODEFICIENCY 22, ENCEPHALOPATHY, NEONATAL SEVERE, 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, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, LOEYS-DIETZ SYNDROME 5, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, NEPHRONOPHTHISIS 15, CLOVE SYNDROME, SOMATIC, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, WOLCOTT-RALLISON SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, SMED STRUDWICK TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MUIR-TORRE SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, LEUKODYSTROPHY, HYPOMYELINATING, 12, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, ULNAR-MAMMARY SYNDROME, KARTAGENER SYNDROME, NOONAN SYNDROME 7, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, CAUDAL REGRESSION SYNDROME, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, OLIGODONTIA-COLORECTAL CANCER SYNDROME, POPLITEAL PTERYGIUM SYNDROME, BARTSOCAS-PAPAS TYPE, GLYCOGEN STORAGE DISEASE 0, MUSCLE, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, CILIARY DYSKINESIA, PRIMARY, 29, SPINOCEREBELLAR ATAXIA 42, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, CHEDIAK-HIGASHI SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, HERMANSKY-PUDLAK SYNDROME 7, PROTEUS SYNDROME, SOMATIC

TSC2, DNM2, APOB, PEX13, SALL1, ACTB, FAS, SQSTM1, PSEN1, SMARCA4, TBX3, AGT, MCM6, PPARG, VANGL1, PKD1, BTK, KMT2A, STK11, FMR1, ITCH, FAM58A, PIK3CA, WNK1, EFEMP2, GFI1B, TGFBR2, CREBBP, JAK3, PRKAG2, COL2A1, CTNNB1, SF3B4, AQP2, PCNA, ATRX, GRIP1, KRAS, AXIN2, MAP2K2, EGFR, ADCY6, NME1, LYST, NOS3, PTRF, MAPT, BUB1B, TPM3, EDNRA, NOD2, CD3E, TAF6, MEGF10, CCND1, MET, JAK2, STAT1, TALDO1, DVL1, MEN1, EP300, TAF1, AP1S1, MLH1, GUCY2C, GSC, STRADA, RPS6KA3, STAT3, SEC23B, ACD, SMC3, GATA1, PFKM, ITGB3, CACNA1G, GJA1, SUFU, SMAD4, USP9X, DVL3, MECP2, CD40LG, TGFB3, CCNO, CASR, PITX2, NUP62, SIK1, CEP164, FOXP3, FLNA, AKT1, RIPK4, SOX2, AXIN1, VDR, WNT5A, MRPL3, DTNBP1, ATXN1, TINF2, TP53, GYS1, UBE3A, LRP2, IKBKB, PLAU, EZH2, CDC6, SNCA, PSTPIP1, TTN, ACTA2, PTEN, MUSK, ACVRL1, DDOST, ZEB2, KIT, CYC1, POLA1, LCK, AR, SLC2A1, DNAJC13, MYH11, SMARCB1, PRKCD, PINK1, PRKCSH, TNF, TGFB1, CHRM3, GATA6, TBP, CFTR, EIF2AK3, BCL10, WAS, VPS11, PARK2, TCF4, CARD11, NOTCH1, LIPE, MSH2, EIF4A3, PTPRC, BRAF, TNFAIP3, DOK7, L1CAM, INS, BDNF, APC, HRAS, FTH1, FASLG, ATXN3, OCLN, SMAD3, TERT, CAD, ESR1, SKI, KDR, KRIT1, PIK3R1

NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, WOLCOTT-RALLISON SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, COFFIN-SIRIS SYNDROME 4, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?DYSTONIA, JUVENILE-ONSET, CORNELIA DE LANGE SYNDROME 3, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, MYOTUBULAR MYOPATHY, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, WISKOTT-ALDRICH SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, VISCERAL MYOPATHY, GLYCOGEN STORAGE DISEASE 0, MUSCLE, LOEYS-DIETZ SYNDROME 2, OPSISMODYSPLASIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HERMANSKY-PUDLAK SYNDROME 2, CRANIOLENTICULOSUTURAL DYSPLASIA, MEIER-GORLIN SYNDROME 5, WIEDEMANN-STEINER SYNDROME, ?IMMUNODEFICIENCY 22, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, CORNELIA DE LANGE SYNDROME 2, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, PROTEUS SYNDROME, SOMATIC

ACTA1, FASLG, SHOC2, SEC23A, ITGB3, SMARCA4, PRKCD, ACTB, FAS, NOS3, JAK3, KRAS, AP3B1, TNF, TPM3, GCK, WAS, CDC6, LCK, CTNNB1, INPPL1, CCND1, MET, KCNN4, TP53, GYS1, TERT, DNM2, AKT1, HRAS, EGFR, EIF2AK3, ACTA2, TGFBR2, SMC1A, MYH11, STAT3, PSTPIP1, INS, SMC3, ITCH, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, MYOTUBULAR MYOPATHY, X-LINKED, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, NEMALINE MYOPATHY 1, AUTOSOMAL DOMINANT OR RECESSIVE, CAP MYOPATHY 1, CORPUS CALLOSUM, PARTIAL AGENESIS OF, WEAVER SYNDROME, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, OCULODENTODIGITAL DYSPLASIA, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LACTASE PERSISTENCE/NONPERSISTENCE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, WOLCOTT-RALLISON SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, LOEYS-DIETZ SYNDROME 3, CORNELIA DE LANGE SYNDROME 3, GLANZMANN THROMBASTHENIA, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, {AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13}, SPINOCEREBELLAR ATAXIA 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SCID, AUTOSOMAL RECESSIVE, T-NEGATIVE/B-POSITIVE TYPE, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, WISKOTT-ALDRICH SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, VISCERAL MYOPATHY, GLYCOGEN STORAGE DISEASE 0, MUSCLE, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE II, DIAMOND-BLACKFAN ANEMIA 7, LOEYS-DIETZ SYNDROME 2, OPSISMODYSPLASIA, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HERMANSKY-PUDLAK SYNDROME 2, CRANIOLENTICULOSUTURAL DYSPLASIA, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, MEIER-GORLIN SYNDROME 5, RUBINSTEIN-TAYBI SYNDROME, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, ?IMMUNODEFICIENCY 22, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, WIEDEMANN-STEINER SYNDROME, CORNELIA DE LANGE SYNDROME 2, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, COFFIN-SIRIS SYNDROME 4, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, PROTEUS SYNDROME, SOMATIC

ACTA1, FASLG, TSC2, DNM2, ITGB3, MYH11, CTNNB1, PRKCD, SHOC2, COL1A1, SMAD4, ACTB, FAS, SEC23A, NOS3, SMARCA4, JAK3, KRAS, AP3B1, TNF, TPM3, GCK, WAS, AXIN1, WNK1, AKT1, LCK, BIN1, INPPL1, GJA1, CCND1, MET, KCNN4, TP53, GYS1, RPL11, EGFR, L1CAM, CDC6, EZH2, EIF2AK3, PIK3CA, PSTPIP1, HRAS, ITCH, ACTA2, ERCC2, ATXN2, PTEN, SMC1A, SMAD3, TERT, CREBBP, STAT3, MCM6, INS, SMC3, TGFBR2, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OTOPALATODIGITAL SYNDROME, TYPE II, CIRRHOSIS, CRYPTOGENIC, {CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO}, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, OTOPALATODIGITAL SYNDROME, TYPE I, GAPO SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, SMED STRUDWICK TYPE, MELNICK-NEEDLES SYNDROME, ?OSTEOGENESIS IMPERFECTA, TYPE X, VISCERAL MYOPATHY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, MUSCULAR DYSTROPHY, CONGENITAL, DUE TO PARTIAL LAMA2 DEFICIENCY, LOEYS-DIETZ SYNDROME 3, KNIEST DYSPLASIA, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA

CCBE1, F2, MYH11, BMP1, PLAU, SMAD4, LAMA2, TGFB1, NOS3, FLNA, AGT, STAT3, BMP2, SERPINH1, FGA, KRT18, IL6, TP53, COL1A1, HRAS, FASLG, TNXB, SMAD3, HSPG2, TNF, ANTXR1, PIK3R1, COL2A1, INS, MMP1, COL7A1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, SUPRANUCLEAR PALSY, PROGRESSIVE, IMMUNODEFICIENCY 15, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, DIGEORGE SYNDROME, FRASER SYNDROME, COCKAYNE SYNDROME, TYPE A, OTOPALATODIGITAL SYNDROME, TYPE II, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, NON-IMMUNE HYDROPS FETALIS, SELECTIVE T-CELL DEFECT, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, ?IMMUNODEFICIENCY 37, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, MULTIPLE ENDOCRINE NEOPLASIA IIB, POLYCYTHEMIA VERA, SOMATIC, WAARDENBURG SYNDROME, TYPE 4A, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, MELNICK-NEEDLES SYNDROME, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IZ, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, MYOTUBULAR MYOPATHY, X-LINKED, CLOVE SYNDROME, SOMATIC, PHEOCHROMOCYTOMA GASTROINTESTINAL STROMAL TUMOR PARAGANGLIOMAS 3, CARDIOFACIOCUTANEOUS SYNDROME, ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER), NEMALINE MYOPATHY 2, AUTOSOMAL RECESSIVE, HERMANSKY-PUDLAK SYNDROME 1, FAMILIAL MEDITERRANEAN FEVER, AR, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, STROMME SYNDROME, ?REYNOLDS SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, PITT-HOPKINS SYNDROME, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, CANDIDIASIS, FAMILIAL, 2, AUTOSOMAL RECESSIVE, RUBINSTEIN-TAYBI SYNDROME, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, IMMUNODEFICIENCY 19, ALAGILLE SYNDROME 2, PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, CORNELIA DE LANGE SYNDROME 1, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MEIER-GORLIN SYNDROME 5, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, MISMATCH REPAIR CANCER SYNDROME, GREENBERG SKELETAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, GENITOPATELLAR SYNDROME, ?IMMUNODEFICIENCY 22, {AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IB, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA, CRANIOFRONTONASAL DYSPLASIA, PEUTZ-JEGHERS SYNDROME, PARKINSON DISEASE 1, PHELAN-MCDERMID SYNDROME, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, VELOCARDIOFACIAL SYNDROME, AGNATHIA-OTOCEPHALY COMPLEX, ANGELMAN SYNDROME, MULTIPLE ENDOCRINE NEOPLASIA IIA, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OVARIAN HYPERSTIMULATION SYNDROME, PSEUDOHYPOALDOSTERONISM, TYPE I, COFFIN-SIRIS SYNDROME 3, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, PITT-HOPKINS-LIKE SYNDROME 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, MYOPATHY, MYOFIBRILLAR, 1, STRIATONIGRAL DEGENERATION, INFANTILE, MYOTONIC DYSTROPHY 1, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, OPSISMODYSPLASIA, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, CARNITINE DEFICIENCY, SYSTEMIC PRIMARY, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, ROBINOW SYNDROME, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, WAARDENBURG SYNDROME, TYPE 4C, COFFIN-SIRIS SYNDROME 4, ?AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIB, PANCREATIC AGENESIS 1, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, WEAVER SYNDROME, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, CORNELIA DE LANGE SYNDROME 3, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, BURN-MCKEOWN SYNDROME, INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASUCLAR MALFORMATIONS, B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY, AMYOTROPHIC LATERAL SCLEROSIS 17, BANNAYAN-RILEY-RUVALCABA SYNDROME, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-1, PONTOCEREBELLAR HYPOPLASIA, TYPE 8, OTOPALATODIGITAL SYNDROME, TYPE I, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, ?DYSTONIA, JUVENILE-ONSET, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, IMMUNODEFICIENCY 14, SPINOCEREBELLAR ATAXIA 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, VISCERAL MYOPATHY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, {AUTISM, SUSCEPTIBILITY TO, 18}, LEUKEMIA, MEGAKARYOBLASTIC, WITH OR WITHOUT DOWN SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, LYMPHOPROLIFERATIVE SYNDROME 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, ?MICROPHTHALMIA, SYNDROMIC 1, WISKOTT-ALDRICH SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XIII, TRICHOHEPATOENTERIC SYNDROME 2, HYPERPARATHYROIDISM, NEONATAL, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, DIARRHEA 8, SECRETORY SODIUM, CONGENITAL, ?CHARGE SYNDROME, CHARGE SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, HMG-COA SYNTHASE-2 DEFICIENCY, THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED, HEMOCHROMATOSIS TYPE 1, SCID DUE TO ABSENT CLASS II HLA ANTIGENS, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, OPITZ GBBB SYNDROME, TYPE I, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS, ENCEPHALOPATHY, NEONATAL SEVERE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, OHDO SYNDROME, X-LINKED, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?PRUNE BELLY SYNDROME, FANCONI RENOTUBULAR SYNDROME 4, WITH MATURITY-ONSET DIABETES OF THE YOUNG, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, NEPHRONOPHTHISIS 15, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, RENPENNING SYNDROME, OPITZ-KAVEGGIA SYNDROME, DUBIN-JOHNSON SYNDROME, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SESAME SYNDROME, FAMILIAL MEDITERRANEAN FEVER, AD, HAJDU-CHENEY SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, SPLENIC HYPOPLASIA, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, MUIR-TORRE SYNDROME, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, SHPRINTZEN-GOLDBERG SYNDROME, GLANZMANN THROMBASTHENIA, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, DIABETES INSIPIDUS, NEPHROGENIC, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2, CAUDAL REGRESSION SYNDROME, OLIGODONTIA-COLORECTAL CANCER SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER), PALLISTER-HALL SYNDROME, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, COENZYME Q10 DEFICIENCY, PRIMARY, 3, CHEDIAK-HIGASHI SYNDROME, HERMANSKY-PUDLAK SYNDROME 7, DYSAUTONOMIA, FAMILIAL, FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME , TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

PEX14, SEC23A, CYBA, SQSTM1, CD3D, KCNJ10, PEX13, DDC, ABCC2, MAP2K2, NAA10, ACOX1, SCNN1A, ACTB, LBR, FERMT3, CENPF, PIK3CA, PSEN1, MID1, SMARCA4, NRXN1, FAS, F2, AGT, INSR, MRPL44, IL6, VANGL1, WNT5A, SOX10, CD3E, PLAU, STK11, CHD8, ITCH, CLASP1, IKBKAP, FBP1, COL1A1, DNM2, DES, ALG2, NCF4, EFEMP2, ERCC2, MEFV, TGFBR2, SALL1, TBK1, SLC9A3, CTNNB1, SF3B4, AQP2, HMGCS2, ACTA1, ATRX, CHD7, TAF1, KRAS, AXIN2, FSHR, SCNN1G, EGFR, NKX2-5, CREBBP, AR, LYST, GNAS, NOS3, SHMT1, SMARCB1, CCND1, MAPT, CAD, CIITA, SKIV2L, EDNRA, CHRM3, PRRX1, TAF6, PKD1, PIK3CD, GJA1, SMARCE1, CNTNAP1, CARD9, MET, JAK2, EFTUD2, LRP5, EXOC8, AVPR2, KAT6B, NCF2, EP300, GDNF, TNFRSF1A, EZH2, GSC, ITK, BDNF, RPS6KA3, STAT3, ERCC8, DTNBP1, AIRE, TBX1, ACD, JAM3, GATA1, NCF1, ADAM17, ITGB3, BMP1, SMAD4, HNF4A, DVL3, SLC22A5, SCNN1B, SHANK3, MECP2, HLA-DRB1, GRIP1, CASR, CNTN1, PITX2, PQBP1, CEP164, NUP62, RAPSN, BMP2, EDNRB, AKT1, SOX2, TXNL4A, MRPL3, DVL1, ATXN1, WAS, TP53, GFI1B, UBE3A, LRP2, IKBKB, AXIN1, HNRNPK, CHMP2B, PRKCD, GLI3, CDC6, SNCA, PSTPIP1, EFNB1, PTEN, TJP2, MUSK, CHMP1A, NOD2, BTK, ITGA6, KIT, ZAP70, OCLN, POLA1, LCK, FLNA, SMAD3, FZD6, PDSS2, PINK1, INPPL1, NOTCH1, ASCL1, CASP10, CLDN1, WNT3, GATA6, TBP, CFTR, SPG7, TGFB1, DMPK, STAT1, NEB, PARK2, TCF4, CARD11, NOTCH2, PLG, FADD, MED12, MSH2, NIPBL, TINF2, CDKL5, ZHX2, RPL11, THRA, PDGFRA, L1CAM, INS, PCNA, BCL10, RET, PEX19, APC, SMC3, HRAS, FASLG, DNMT3B, PDX1, EPOR, MYH11, TERT, TNF, ESR1, CASP8, PIK3R1, KDR, RYR1, SKI

CONGENITAL MYASTHENIC SYNDROME 1B, FAST-CHANNEL, ?MYASTHENIC SYNDROME, CONGENITAL, 2C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, FRASER SYNDROME, HYPOGLYCEMIA OF INFANCY, LEUCINE-SENSITIVE, OTOPALATODIGITAL SYNDROME, TYPE II, BARTTER SYNDROME, TYPE 2, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, MYOTONIC DYSTROPHY 1, PARKINSON DISEASE 1, MELNICK-NEEDLES SYNDROME, CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY, ZIMMERMANN-LABAND SYNDROME 1, HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CARDIOFACIOCUTANEOUS SYNDROME, RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER, ?RAS-ASSOCIATED AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME TYPE IV, SOMATIC, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CORNELIA DE LANGE SYNDROME 3, LYMPHEDEMA, HEREDITARY, III, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1, HYPOPHOSPHATASIA, INFANTILE, STORMORKEN SYNDROME, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, MYASTHENIC SYNDROME, CONGENITAL, 3B, FAST-CHANNEL, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, RENAL CYSTS AND DIABETES SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, DYSERYTHROPOIETIC ANEMIA, CONGENITAL, TYPE IV, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PAROXYSMAL EXTREME PAIN DISORDER, OCULODENTODIGITAL DYSPLASIA, MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, ?MARDEN-WALKER SYNDROME, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 4B, FAST-CHANNEL, LOEYS-DIETZ SYNDROME 3, ANGELMAN SYNDROME, HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2, PSEUDOHYPOALDOSTERONISM, TYPE I, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE, 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, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, RETT SYNDROME, ATYPICAL, RETT SYNDROME, RETT SYNDROME, PRESERVED SPEECH VARIANT, DEHYDRATED HEREDITARY STOMATOCYTOSIS 2, MUCOLIPIDOSIS IV, WAARDENBURG SYNDROME, TYPE 4C, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, NON-IMMUNE HYDROPS FETALIS, DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION, X-LINKED SYNDROMIC, LUBS TYPE, ?MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX I DEFICIENCY,; MITOCHONDRIAL COMPLEX 1 DEFICIENCY, CHRONIC GRANULOMATOUS DISEASE, X-LINKED, OTOPALATODIGITAL SYNDROME, TYPE I, IMMUNODEFICIENCY 14, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, SPINOCEREBELLAR ATAXIA 19, FRAGILE X TREMOR/ATAXIA SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 1A, SLOW-CHANNEL, CLOVE SYNDROME, SOMATIC, HOLOPROSENCEPHALY 11, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OLMSTED SYNDROME, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, HYPERPARATHYROIDISM, NEONATAL, TANGIER DISEASE, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, CHRONIC GRANULOMATOUS DISEASE DUE TO DEFICIENCY OF NCF-2, ENCEPHALOPATHY, NEONATAL SEVERE, LEBER CONGENITAL AMAUROSIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, CHOROID PLEXUS PAPILLOMA, ?DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6, ?DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7, HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4, ?PRUNE BELLY SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, PARAMYOTONIA CONGENITA, POLYCYSTIC LIVER DISEASE, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SESAME SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, ESCOBAR SYNDROME, DIABETES INSIPIDUS, NEPHROGENIC, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, POLYCYSTIC KIDNEY DISEASE, ADULT TYPE I, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, MYOTONIA CONGENITA, RECESSIVE, 3-HYDROXYISOBUTRYL-COA HYDROLASE DEFICIENCY, HYPEREKPLEXIA, HEREDITARY 1, AUTOSOMAL DOMINANT OR RECESSIVE, 3MC SYNDROME 1, NOONAN SYNDROME 7, HYPOBETALIPOPROTEINEMIA, IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, ?MYASTHENIC SYNDROME, CONGENITAL, 3A, SLOW-CHANNEL, ?MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, PARATHYROID ADENOMA WITH CYSTIC CHANGES, HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, CHRONIC GRANULOMATOUS DISEASE, AUTOSOMAL, DUE TO DEFICIENCY OF CYBA, RUBINSTEIN-TAYBI SYNDROME 2, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2, SPINOCEREBELLAR ATAXIA 42, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, PROTEUS SYNDROME, SOMATIC

TSC2, CYBA, PKD1, CHRNG, ACTB, NALCN, SQSTM1, PSEN1, F2, AGT, HIBCH, APOB, SOX10, PIEZO2, IL2RA, FMR1, PRF1, PIK3CA, EFEMP2, CDC73, CREBBP, CTNNB1, TRPV3, PCNA, SCN4A, KRAS, APOA1, SCNN1G, SERPINA1, ADCY6, NME1, NOS3, KCNJ1, TNF, RYR1, SCNN1A, PIK3CD, KCND3, ABCA1, CCND1, TJP2, GLIS3, NCF2, EP300, HSPD1, CLCN1, ALPL, STX11, GPHN, BRAF, ACD, ABCC8, SMC3, MT-CO1, STIM1, KCNJ11, CACNA1G, GJA1, KCNN4, HNF1B, CNTN5, MCOLN1, SCNN1B, CHRNB1, MECP2, CD40LG, GRIP1, CASR, CNTN1, CHRNA1, AKT1, SCN11A, CFTR, PRKCD, TP53, SEC63, EGFR, PIEZO1, SCN1A, AQP2, SNCA, PTEN, MUSK, KCNH1, CHRM3, CHRND, CDON, GJC2, GUCY2D, FLNA, CHRNE, CYBB, MASP1, KCNJ10, TGFB1, KLF1, DMPK, STAT3, SCN9A, IL6, ABCC9, L1CAM, INS, BDNF, GLRA1, CTCF, PAM16, HRAS, LRP2, OCLN, SMAD3, NDUFS2, KDR, PIK3R1

?MITOCHONDRIAL COMPLEX IV DEFICIENCY, MITOCHONDRIAL COMPLEX IV DEFICIENCY, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BASAL CELL NEVUS SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1, PULMONARY FIBROSIS, IDIOPATHIC, {PULMONARY FIBROSIS, IDIOPATHIC, SUSCEPTIBILITY TO}, GLYCOGEN STORAGE DISEASE VI, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, NIEMANN-PICK DISEASE TYPE C1, COFFIN-SIRIS SYNDROME 4, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, HAMAMY SYNDROME, ?DYSTONIA, JUVENILE-ONSET, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, PARKINSON DISEASE 1, {DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2}, {DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4}, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NIEMANN-PICK DISEASE, TYPE C2, ANGELMAN SYNDROME, EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME, HYPOBETALIPOPROTEINEMIA, TRIGONOCEPHALY 1, {PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1}, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, VISCERAL MYOPATHY, TANGIER DISEASE, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, PALLISTER-HALL SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9, APERT SYNDROME, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, HOLOPROSENCEPHALY-7, RUBINSTEIN-TAYBI SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, MEGALOBLASTIC ANEMIA-1, FINNISH TYPE, MEGALOBLASTIC ANEMIA-1, NORWEGIAN TYPE, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PSEUDOHYPOALDOSTERONISM TYPE I, AUTOSOMAL DOMINANT, CHOROID PLEXUS PAPILLOMA

ACTA1, FGA, APOB, ACTB, FGFR1, SMARCA4, APOA1, SPATA5, AR, PYGL, CD40LG, AGT, AKR1D1, PPARG, STAT3, MT-CO2, LEP, SNCA, PTCH1, ABCA1, IRX5, VDR, ESR1, FGFR2, MRPL3, IL6, TP53, UBE3A, EGFR, LRP2, BDNF, EP300, GLI3, CUBN, NPC1, TERT, FGG, SMAD3, CREBBP, HSPG2, TNF, NPC2, INS, ACTG2, NR3C2

ADAMS-OLIVER SYNDROME 5, HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, CORPUS CALLOSUM, PARTIAL AGENESIS OF, WEAVER SYNDROME, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OTOPALATODIGITAL SYNDROME, TYPE II, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, LEPRECHAUNISM, BENT BONE DYSPLASIA SYNDROME, PERIODIC FEVER, FAMILIAL, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, 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, ADAMS-OLIVER SYNDROME 6, APERT SYNDROME, HAJDU-CHENEY SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE I, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, COMMON VARIABLE IMMUNODEFICIENCY 1, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SMED STRUDWICK TYPE, MULTIPLE ENDOCRINE NEOPLASIA IIB, HYPOCALCIURIC HYPERCALCEMIA, TYPE I, CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 4, MELNICK-NEEDLES SYNDROME, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, KNIEST DYSPLASIA, GLANZMANN THROMBASTHENIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, MULTIPLE ENDOCRINE NEOPLASIA IIA, GELEOPHYSIC DYSPLASIA 2, IMMUNODEFICIENCY, COMMON VARIABLE, 7, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, EHLERS-DANLOS SYNDROME, TYPE IV, EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, {MIGRAINE, SUSCEPTIBILITY TO}, {MIGRAINE WITHOUT AURA, SUSCEPTIBILITY TO}, {MIGRAINE, RESISTANCE TO}, PITT-HOPKINS-LIKE SYNDROME 2, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, HYPERPARATHYROIDISM, NEONATAL, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, CAVERNOUS MALFORMATIONS OF CNS AND RETINA, CEREBRAL CAVERNOUS MALFORMATIONS-1, HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, KAPPA LIGHT CHAIN DEFICIENCY, THROMBOTIC THROMBOCYTOPENIC PURPURA, FAMILIAL, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, ALAGILLE SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, PARKINSON DISEASE 1, MULTIPLE ENDOCRINE NEOPLASIA 1, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO}, {HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1}, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, EHLERS-DANLOS SYNDROME DUE TO TENASCIN X DEFICIENCY, ?AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND UNUSUAL PLAQUES, ALZHEIMER DISEASE, TYPE 3, ALZHEIMER DISEASE, TYPE 3, WITH SPASTIC PARAPARESIS AND APRAXIA, ?IMMUNODEFICIENCY 22, STORMORKEN SYNDROME, HYPOFIBRINOGENEMIA, CONGENITAL, AFIBRINOGENEMIA, CONGENITAL, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, LEUKOCYTE ADHESION DEFICIENCY, TYPE III, ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER IGE, CHOROID PLEXUS PAPILLOMA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, ALAGILLE SYNDROME 2

LCK, STIM1, ADAMTS13, ITGB3, TNFRSF1A, FBLN5, NFKB2, PRKCD, COL1A1, PTPRC, DLL4, C3AR1, FERMT3, TGFB1, FLNA, COL3A1, INSR, CR2, NRXN1, CCND1, F2, KRIT1, LEP, AGT, ITGB4, IGKC, SNCA, NOD2, COL5A1, MEN1, SCARB2, CASR, HLA-B, NOS3, PLG, DSG1, CTNNB1, FGA, FGFR2, ASCL1, ITGA6, IL6, PSEN1, DST, THBS4, FBN1, L1CAM, LRP2, PCNA, PLAU, ADAM17, RET, KDR, TP53, NOTCH1, LTBP4, EGFR, EZH2, GFI1B, JAG1, FGG, TNXB, TJP2, SMAD3, NOTCH2, HSPG2, TNF, STAT3, COL7A1, COL2A1, INS, JAM3, PITX2, PIK3R1

HIRSCHSPRUNG DISEASE 1 HIRSCHSPRUNG'S DISEASE, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, POLYCYTHEMIA VERA, SOMATIC, CORPUS CALLOSUM, PARTIAL AGENESIS OF, SPASTIC PARALYSIS, INFANTILE ONSET ASCENDING, FRASER SYNDROME, HEMOCHROMATOSIS, {HFE HEMOCHROMATOSIS, MODIFIER OF}, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, PEUTZ-JEGHERS SYNDROME, {PREECLAMPSIA, SUSCEPTIBILITY TO}, {HYPERTENSION, PREGNANCY-INDUCED}, COCKAYNE SYNDROME, TYPE B, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMMUNODEFICIENCY 14, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, [ERYTHROCYTOSIS, FAMILIAL, 1], ERYTHROCYTOSIS, SOMATIC, BANNAYAN-RILEY-RUVALCABA SYNDROME, PRIMARY LATERAL SCLEROSIS, JUVENILE, POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY, PANCREATIC CANCER, SOMATIC, PANCREATIC CANCER, SOMATIC PANCREATIC CANCER, PANCREATIC CARCINOMA, SOMATIC, LOEYS-DIETZ SYNDROME 3, CLOVE SYNDROME, SOMATIC, CARDIOFACIOCUTANEOUS SYNDROME, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE, {CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF}, {PSEUDOMONAS AERUGINOSA, SUSCEPTIBILITY TO CHRONIC INFECTION BY, IN CYSTIC FIBROSIS}, CYSTIC FIBROSIS, HEPATOCELLULAR CANCER, SOMATIC, HEPATOCELLULAR CARCINOMA, HEPATOBLASTOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, SOMATIC, HEPATOCELLULAR CARCINOMA, CHILDHOOD TYPE, SOMATIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, PROTEUS SYNDROME, SOMATIC

TTR, GRIP1, MAP2K2, ALS2, TGFB1, IGF2, GATA6, CCND1, AGT, STAT3, BMP2, PIK3CA, PIK3CD, AKT1, STK11, TINF2, IL6, JAK2, ERCC6, L1CAM, PCNA, CTCF, EGFR, PTEN, SMAD3, STRADA, CREBBP, PRKAG2, KDR