HEAD AND NECK

IMMUNODEFICIENCY 19, TUBEROUS SCLEROSIS 2, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, LEOPARD SYNDROME 1, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, {CELIAC DISEASE, SUSCEPTIBILITY TO}, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

PDCD1, HLA-DQB1, CD3G, IFNG, HLA-DRB1, STAT1, CD3E, HLA-DQA1, CD3D, PTPN11

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MACULAR DEGENERATION, EARLY-ONSET, CAMURATI-ENGELMANN DISEASE, OSTEOGENESIS IMPERFECTA, TYPE IV, AORTIC ANEURYSM, FAMILIAL THORACIC 9, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, OSTEOGENESIS IMPERFECTA, TYPE II, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, IMAGE SYNDROME, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, DIAPHANOSPONDYLODYSOSTOSIS, ALAGILLE SYNDROME, RENAL ADYSPLASIA, DENTAL ANOMALIES AND SHORT STATURE, ACROMICRIC DYSPLASIA, CUTIS LAXA, AD, MULTIPLE SYNOSTOSES SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, AMELOGENESIS IMPERFECTA, TYPE IH, MARFAN LIPODYSTROPHY SYNDROME, ECTOPIA LENTIS, FAMILIAL, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, LOEYS-DIETZ SYNDROME 2, CORNEAL DYSTROPHY, CONGENITAL STROMAL, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, GELEOPHYSIC DYSPLASIA 2, LOEYS-DIETZ SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, LOEYS-DIETZ SYNDROME 4, {EXFOLIATION SYNDROME, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 17

GDF5, ITGB3, ITGA8, ELN, IGF1, SMAD4, COL1A1, TGFB1, NOTCH1, ITGB6, TGFB3, TGFB2, LTBP2, BMP4, CDH1, FBLN5, EGFR, DCN, FBN1, TGFBR1, COL1A2, FBN2, MFAP5, LTBP4, CDKN1C, BMPER, JAG1, GFI1B, TGFBR2, LTBP3, ACVR1, EFEMP2

BARAITSER-WINTER SYNDROME 1, ATROPHODERMA VERMICULATUM, RETINITIS PIGMENTOSA-40, USHER SYNDROME, TYPE 1B, HYPER-IGE RECURRENT INFECTION SYNDROME, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, ?NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DEAFNESS, AUTOSOMAL DOMINANT 11, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, BARAITSER-WINTER SYNDROME 2, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, CARASIL SYNDROME, CAMURATI-ENGELMANN DISEASE, PORETTI-BOLTSHAUSER SYNDROME, LEOPARD SYNDROME 3, LEBER CONGENITAL AMAUROSIS 14, RETINITIS PIGMENTOSA, JUVENILE, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LOEYS-DIETZ SYNDROME 2, CORNEAL DYSTROPHY, CONGENITAL STROMAL, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, PSEUDOPSEUDOHYPOPARATHYROIDISM, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, RUBINSTEIN-TAYBI SYNDROME, RENAL TUBULAR DYSGENESIS, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, OCULODENTODIGITAL DYSPLASIA, NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, PARKINSON DISEASE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CONE-ROD DYSTROPHY 14, CONE DYSTROPHY-3, OGUCHI DISEASE-1, HYPERLIPOPROTEINEMIA, TYPE IB, INCONTINENTIA PIGMENTI, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, NOONAN SYNDROME 4, ?RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, LEBER CONGENITAL AMAUROSIS 13, IMMUNODEFICIENCY 33, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?DYSTONIA, JUVENILE-ONSET, RETINITIS PIGMENTOSA 57, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ?MYASTHENIC SYNDROME, CONGENITAL, 18, TANGIER DISEASE, NIGHT BLINDNESS, CONGENITAL STATIONARY (COMPLETE), 1D, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED 63, DARIER DISEASE, RETINITIS PIGMENTOSA 45, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, LEBER CONGENITAL AMAUROSIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, CHOROID PLEXUS PAPILLOMA, STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, DEAFNESS, AUTOSOMAL DOMINANT 20/26, PSEUDOHYPOPARATHYROIDISM IA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, RETINITIS PIGMENTOSA 20, OMODYSPLASIA 1, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 9, ?FIBROMATOSIS, GINGIVAL, 1, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, NOONAN SYNDROME 7, BLUE CONE MONOCHROMACY, HYPOBETALIPOPROTEINEMIA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ?RETINITIS PIGMENTOSA 66, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, DEAFNESS, AUTOSOMAL RECESSIVE 2, BOTHNIA RETINAL DYSTROPHY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, LOEYS-DIETZ SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

GUCA1A, APOE, TTR, TGFBR1, APOA2, RDH11, CTNNB1, APOB, APOA1, RDH5, ACTG1, SNCA, GUCY2D, GPC3, RBP4, SAG, IKBKG, GNAS, GNAT1, STAT1, CAV1, DAG1, INS, AGT, TGFB1, RARS, TUBB, LAMA1, LEP, OPN1LW, CASK, PPP2R1A, RLBP1, APOC2, MYO7A, AKT1, IL6, RPE65, GJA1, SOS1, PDE6B, CCND1, GNAQ, AGRN, GPC6, LRAT, DCN, SLC24A1, LRP2, CLASP1, DNM2, ITPR1, STRA6, CNGB1, TP53, CDH1, RHO, BMP4, ABCA4, OCLN, EGFR, PDE6G, ACSL4, ACTA2, RBP3, ACTB, RB1, HTRA1, CREBBP, ATP2A2, LRP1, HSPG2, BRAF, STAT3, DDOST, TGFBR2, RDH12, LDLR, SNAP25, SPTLC1, PDGFB

BARAITSER-WINTER SYNDROME 1, IMMUNODEFICIENCY 15, CORNEAL DYSTROPHY, LATTICE TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA WITH COLOBOMA 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, AURICULOCONDYLAR SYNDROME 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, TRIGONOCEPHALY 1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, CORPUS CALLOSUM, PARTIAL AGENESIS OF, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HYPOCHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, PARKINSON DISEASE 1, CATSHL SYNDROME, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, SHORT SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, MICROPHTHALMIA, SYNDROMIC 6, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, OPSISMODYSPLASIA, WAARDENBURG SYNDROME, TYPE 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 89, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, RETINITIS PIGMENTOSA 37, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, HARTSFIELD SYNDROME, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, RETINITIS PIGMENTOSA 13, MYOPIA 23, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MUENKE SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, WAARDENBURG SYNDROME, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BARAITSER-WINTER SYNDROME 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ROBINOW SYNDROME, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, ?FIBROMATOSIS, GINGIVAL, 1, CORNEAL DYSTROPHY, AVELLINO TYPE, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME 7, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, LADD SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MASA SYNDROME, CRASH SYNDROME, ALEXANDER DISEASE, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LEOPARD SYNDROME 1, BENT BONE DYSPLASIA SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, AU-KLINE SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

EZH2, F2, WNT5A, PRPF8, ACTB, ACTN1, AGT, GFAP, ATP1A2, EDN1, UBE2A, IL17RD, UBB, FGF17, CDKN2A, FGF3, SPTAN1, PIK3CA, TGFBI, BMP4, PDGFRB, NR2E3, IL2RG, CTNNB1, SF3B4, MUSK, ACTA1, ACE, PLEC, ERBB3, MAP2K2, PSMB8, IGF2, NOTCH1, MTOR, FGFR1, LEP, PIK3CD, CBL, SMARCE1, CCND1, SPRED1, ITPR1, RB1, FGF23, BDNF, RPS6KA3, STAT3, DUSP6, BRAF, INS, DMD, SOS2, ITGB3, GJA1, SHOC2, SMAD4, VWF, SYNGAP1, PAX2, HLA-DRB1, NFKB2, PPP2R1A, HES7, FGF20, PLK4, AKT1, CCND2, KRAS, INPPL1, VCP, RUNX1, KARS, EPS8, NEFL, IKBKB, HNRNPK, LRPAP1, ITGA2B, SNCA, IL1B, EFNB1, NF1, FGFR3, RUNX2, NRAS, NGF, PPP2R5D, PAX3, ACTG1, PIK3R2, NTRK1, PTPN11, TNFAIP3, FGF10, TGFB1, SPRY4, FGF5, KITLG, PCNA, PDGFB, SOS1, TP53, FGFR2, IL6, PDGFRA, L1CAM, LAMTOR2, GRIN2B, SPTBN2, HRAS, EGFR, HSPG2, CDH1, PIK3R1, KL, SHH

CRANIOLENTICULOSUTURAL DYSPLASIA, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, {SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1}, DEAFNESS, DYSTONIA, AND CEREBRAL HYPOMYELINATION, COLE-CARPENTER SYNDROME 2

TAP1, TAP2, SEC24D, HLA-B, BCAP31, SEC23A, TAPBP

BARAITSER-WINTER SYNDROME 1, ATROPHODERMA VERMICULATUM, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, AORTIC ANEURYSM, FAMILIAL THORACIC 9, MULTIPLE SULFATASE DEFICIENCY, OTOPALATODIGITAL SYNDROME, TYPE II, FANCONI ANEMIA, COMPLEMENTATION GROUP A, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ?FIBROMATOSIS, GINGIVAL, 1, SHORT SYNDROME, MENTAL RETARDATION, X-LINKED 102, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, AMISH INFANTILE EPILEPSY 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, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, COENZYME Q10 DEFICIENCY, PRIMARY, 6, BLOOM SYNDROME, MELNICK-NEEDLES SYNDROME, COLE-CARPENTER SYNDROME 1, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, COLE-CARPENTER SYNDROME 2, ?SPINOCEREBELLAR ATAXIA 26, WERNER SYNDROME, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSAUTONOMIA, FAMILIAL, ECTOPIA LENTIS ET PUPILLAE, METACHROMATIC LEUKODYSTROPHY, PORENCEPHALY 1, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ?RETINAL ARTERIES, TORTUOSITY OF, SALLA DISEASE, AGAMMAGLOBULINEMIA, X-LINKED 1, CORNEAL DYSTROPHY, CONGENITAL STROMAL, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOHYPOPARATHYROIDISM IC, PETERS-PLUS SYNDROME, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, PSEUDOHYPOPARATHYROIDISM IA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, NESTOR-GUILLERMO PROGERIA SYNDROME, ADAMS-OLIVER SYNDROME 5, LEUKODYSTROPHY, HYPOMYELINATING, 11, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, BOHRING-OPITZ SYNDROME, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, ICHTHYOSIS, X-LINKED, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, CORNELIA DE LANGE SYNDROME 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, DIAMOND-BLACKFAN ANEMIA 6, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, FRONTOMETAPHYSEAL DYSPLASIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, ADAMS-OLIVER SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, BLEEDING DISORDER, PLATELET-TYPE, 15, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), LETHAL CONGENITAL CONTRACTURE SYNDROME 1, PRADER-WILLI SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, TUBEROUS SCLEROSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, RIDDLE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, CHIME SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, KAHRIZI SYNDROME, WEAVER SYNDROME, EVEN-PLUS SYNDROME, CORNELIA DE LANGE SYNDROME 3, RETINITIS PIGMENTOSA 59, CORNELIA DE LANGE SYNDROME 2, KNOBLOCH SYNDROME 1, NOONAN SYNDROME 4, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, GM1-GANGLIOSIDOSIS, TYPE I, OCULOECTODERMAL SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, XERODERMA PIGMENTOSUM, GROUP C, OSTEOGENESIS IMPERFECTA, TYPE II, COMMON VARIABLE IMMUNODEFICIENCY 1, SPINOCEREBELLAR ATAXIA 1, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, ALAGILLE SYNDROME, WIEDEMANN-STEINER SYNDROME, EHLERS-DANLOS SYNDROME, TYPE VIIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, IMMUNODEFICIENCY 23, ECTOPIA LENTIS, FAMILIAL, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, DEAFNESS, AUTOSOMAL RECESSIVE 24, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, PCWH SYNDROME, CRANIOLENTICULOSUTURAL DYSPLASIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, WEILL-MARCHESANI-LIKE SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, VON WILLEBRAND DISEASE, TYPE 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, SIALIC ACID STORAGE DISORDER, INFANTILE, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, FACTOR VII DEFICIENCY, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), LEUKOCYTE ADHESION DEFICIENCY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, GELEOPHYSIC DYSPLASIA 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, LATERAL MENINGOCELE SYNDROME, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, TREACHER COLLINS SYNDROME 3, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MYHRE SYNDROME, MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, ACROMICRIC DYSPLASIA, GM1-GANGLIOSIDOSIS, TYPE III, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, HYPOBETALIPOPROTEINEMIA, CONGENITAL DISORDER OF DEGLYCOSYLATION, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MARFAN LIPODYSTROPHY SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, GELEOPHYSIC DYSPLASIA 1, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, DIAMOND-BLACKFAN ANEMIA 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, AU-KLINE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

APOE, RPL5, SEC23A, CAV1, PIGV, PLOD3, APOB, NGLY1, PIGW, RAD21, ACTB, GNAS, CTSA, TAP1, F2, B3GLCT, MGAT2, PMM2, P4HB, NOTCH3, ALG3, PTHLH, ASXL1, EIF2B2, PROS1, BTK, SLC17A5, ARSE, CDKN2A, ALG1, DPM2, COL1A1, PGAP1, DES, ALG2, PIGL, ST3GAL5, RPS19, GFI1B, SMAD4, IKBKAP, DNMT3B, RBPJ, PHC1, GP1BA, PIGO, KRAS, ERBB3, CBL, DPH1, WRN, PIGT, NOTCH1, LRP1, PROC, MTOR, DHDDS, COQ6, MOGS, ALG11, COL1A2, GFPT1, IFNG, STT3A, CCND1, MET, ADAMTS10, EFTUD2, AAAS, EP300, GALNT3, ADAMTS2, ACTA2, STS, ALG6, SMC1A, ADAMTSL2, INS, SMC3, ADAMTS18, MAN1B1, BANF1, DPAGT1, DDX3X, CTNNB1, IGF1, COL4A1, VWF, STAT1, GMPPB, EEF2, NFKB2, NUP62, RDX, MFAP5, BRCA1, NDN, AKT1, BIN1, ATXN1, TP53, UBE3A, EGFR, FBN1, ITGB2, EZH2, CDH1, IL1B, MPDU1, HSPA9, ARSA, GNE, SEC24D, XRCC4, XPC, DDOST, SOX10, ITGA6, HRAS, RUNX2, SUMF1, GLE1, PIGA, FLNA, NGF, HNRNPK, ACTG1, DPM1, RFT1, TGFB1, JAG1, CENPE, ARSB, GMPPA, STAT3, GLB1, F7, SOS1, BLM, HERC2, IL6, SRD5A3, NEU1, MSX1, DCN, ADAMTSL4, PGM3, POLR1C, CTCF, ACTN1, F10, DOLK, ADAMTS17, ADAM17, RNF168, HSPG2, EXT2, PDGFB, DHFR, ALG13, PIGN, PIK3R1

POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, CRANIOECTODERMAL DYSPLASIA 1, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, OCULOECTODERMAL SYNDROME, PERRY SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, NOONAN SYNDROME 9, ?CRANIOECTODERMAL DYSPLASIA 4, CRANIOECTODERMAL DYSPLASIA 2, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, LEUKODYSTROPHY, HYPOMYELINATING, 6, CRANIOECTODERMAL DYSPLASIA 3, SENIOR-LOKEN SYNDROME 8, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, SENIOR-LOKEN SYNDROME 9, HERMANSKY-PUDLAK SYNDROME 1, ?BARDET-BIEDL SYNDROME 19, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, ACHONDROGENESIS, TYPE IA, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, RETINITIS PIGMENTOSA 71, NEPHRONOPHTHISIS 13, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, HERMANSKY-PUDLAK SYNDROME 7, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, LISSENCEPHALY 3

PAFAH1B1, TUBA1A, CLUAP1, TRAF3IP1, DTNBP1, IFT27, MYO5A, IFT43, IFT172, WDR35, TUBB3, TRIP11, TUBB2B, WDR60, CLASP1, DCTN1, IFT122, GRIN2B, KIF11, SMC3, TTC21B, WDR19, AGPAT2, WDR34, BUB1B, IFT140, TUBB4A, DYNC2H1, CASK, SOS2

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 4A, OTOPALATODIGITAL SYNDROME, TYPE II, ACHONDROPLASIA, ?STICKLER SYNDROME, TYPE V, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA, SYNDROMIC 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, MULTIPLE ENDOCRINE NEOPLASIA IIB, CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA AND MICROGNATHIA, CARASIL SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, MULTIPLE SYNOSTOSES SYNDROME 1, ?RETINAL ARTERIES, TORTUOSITY OF, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, CHARCOT-MARIE-TOOTH DISEASE, TYPE 2J, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, TRICHOMEGALY, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, NEUROFIBROMATOSIS, FAMILIAL SPINAL, MACULAR DYSTROPHY, RETINAL, 2, INSOMNIA, FATAL FAMILIAL, COFFIN-LOWRY SYNDROME, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, CORNELIA DE LANGE SYNDROME 1, PITUITARY HORMONE DEFICIENCY, COMBINED, 3, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, VON WILLEBRAND DISEASE, TYPE 1, HAJDU-CHENEY SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21, GILLESPIE SYNDROME, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, CATARACT 11, MULTIPLE TYPES, CATARACT 11, SYNDROMIC, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, DEAFNESS, AUTOSOMAL RECESSIVE 36, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES, ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS, CRANIOSYNOSTOSIS 3, ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, NEUROFIBROMATOSIS, TYPE 1, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, LYSYL HYDROXYLASE 3 DEFICIENCY, EMBERGER SYNDROME, CULLER-JONES SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, TIMOTHY SYNDROME, NOONAN SYNDROME 4, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, BRACHYDACTYLY, TYPE E2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, BANNAYAN-RILEY-RUVALCABA SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, RETINITIS PIGMENTOSA 13, EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED, WIEDEMANN-STEINER SYNDROME, CLOVE SYNDROME, SOMATIC, LEUKODYSTROPHY, HYPOMYELINATING, 6, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, MUENKE SYNDROME, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, NICOLAIDES-BARAITSER SYNDROME, SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, ABLEPHARON-MACROSTOMIA SYNDROME, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, FRONTONASAL DYSPLASIA 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, TUBEROUS SCLEROSIS-1, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, GLAUCOMA 1A, PRIMARY OPEN ANGLE, MYASTHENIC SYNDROME, CONGENITAL, 16, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, ?DYSTONIA 23, NAIL-PATELLA SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, PEROXISOME BIOGENESIS DISORDER 11B, BARBER-SAY SYNDROME, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, MYOPATHY, DISTAL, TATEYAMA TYPE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, DEAFNESS, X-LINKED 2, CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED, GERSTMANN-STRAUSSLER DISEASE, DEAFNESS, X-LINKED 5, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, XERODERMA PIGMENTOSUM, GROUP G/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP G, CARNEY COMPLEX, TYPE 1, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, DYSTONIA-PARKINSONISM, X-LINKED, ECTOPIA LENTIS ET PUPILLAE, MENTAL RETARDATION AND DISTINCTIVE FACIAL FEATURES WITH OR WITHOUT CARDIAC DEFECTS, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, CROUZON SYNDROME, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, OSTEOGENESIS IMPERFECTA, TYPE XV, AGAMMAGLOBULINEMIA 3, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, MENTAL RETARDATION, X-LINKED 30/47, MARFAN LIPODYSTROPHY SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, HOLOPROSENCEPHALY-5, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MENTAL RETARDATION, X-LINKED SYNDROMIC 5, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, ?FIBROMATOSIS, GINGIVAL, 1, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, CORNEAL DYSTROPHY, AVELLINO TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MELNICK-NEEDLES SYNDROME, MYHRE SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, TREACHER COLLINS SYNDROME 2, COLE-CARPENTER SYNDROME 1, HOLOPROSENCEPHALY-7, NEUROFIBROMATOSIS-NOONAN SYNDROME, MACHADO-JOSEPH DISEASE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, LISSENCEPHALY 5, LEOPARD SYNDROME 3, HYPOPHOSPHATASIA, INFANTILE, ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE, STORMORKEN SYNDROME, RETINITIS PIGMENTOSA 35, CORNEAL DYSTROPHY, CONGENITAL STROMAL, PITT-HOPKINS SYNDROME, DUANE-RADIAL RAY SYNDROME, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, ARTHYRGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS, DISTAL, TYPE 2B, ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE 2B, OSTEOGENESIS IMPERFECTA, TYPE XVII, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, CLEFT PALATE, ISOLATED, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, GAZE PALSY, HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, ATAXIA-TELANGIECTASIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ISCHIOCOXOPODOPATELLAR SYNDROME, PERIODIC FEVER, FAMILIAL, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, PANCREATIC AND CEREBELLAR AGENESIS, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, DYSTONIA 27, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, VELOCARDIOFACIAL SYNDROME, NOONAN SYNDROME 9, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, ?RENAL HYPODYSPLASIA/APLASIA 2, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, TOOTH AGENESIS, SELECTIVE, 7, STRIATONIGRAL DEGENERATION, INFANTILE, ARTHROGRYPOSIS, DISTAL, TYPE 8, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, SEBASTIAN SYNDROME, HYPOPHOSPHATASIA, ADULT, ODONTOHYPOPHOSPHATASIA, OTOPALATODIGITAL SYNDROME, TYPE I, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, TARSAL-CARPAL COALITION SYNDROME, SPASTIC PARAPLEGIA 75, AUTOSOMAL RECESSIVE, OPSISMODYSPLASIA, RABSON-MENDENHALL SYNDROME, LEGIUS SYNDROME, SEGAWA SYNDROME, RECESSIVE, SYMPHALANGISM, PROXIMAL, 1A, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ADAMS-OLIVER SYNDROME 5, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, PALLISTER-HALL SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 56, KNOBLOCH SYNDROME 1, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, DIGEORGE SYNDROME, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION, COLOBOMA, OCULAR, COMMON VARIABLE IMMUNODEFICIENCY 1, DUCHENNE MUSCULAR DYSTROPHY, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, SPONDYLOPERIPHERAL DYSPLASIA, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, EPSTEIN SYNDROME, INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, RETINITIS PIGMENTOSA 41, HYPOCHONDROPLASIA, SPINOCEREBELLAR ATAXIA 17, ACROCAPITOFEMORAL DYSPLASIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, {HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA}, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, CEREBELLOFACIODENTAL SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, OCULOPHARYNGEAL MUSCULAR DYSTROPHY, EPITHELIAL RECURRENT EROSION DYSTROPHY, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, SECKEL SYNDROME 1, GELEOPHYSIC DYSPLASIA 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, SINOATRIAL NODE DYSFUNCTION AND DEAFNESS, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, TUMOR PREDISPOSITION SYNDROME, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, FACTOR XIIIA DEFICIENCY, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, FACIAL PARESIS, HEREDITARY CONGENITAL, 3, XERODERMA PIGMENTOSUM, GROUP D, IVIC SYNDROME, RETINITIS PIGMENTOSA 70, IMMUNODEFICIENCY 10, LEOPARD SYNDROME 1, HERMANSKY-PUDLAK SYNDROME 7, REVESZ SYNDROME, BASAL CELL NEVUS SYNDROME, IMMUNODEFICIENCY 15, CAMURATI-ENGELMANN DISEASE, XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME, XERODERMA PIGMENTOSUM, GROUP F, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, MACULAR DYSTROPHY, PATTERNED, 2, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?PHOSPHOENOLPYRUVATE CARBOXYKINASE-1, CYTOSOLIC, DEFICIENCY, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, WAARDENBURG SYNDROME, TYPE 4A, PHELAN-MCDERMID SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, MYOTUBULAR MYOPATHY, X-LINKED, FECHTNER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, PORETTI-BOLTSHAUSER SYNDROME, PARIETAL FORAMINA 2, DEJERINE-SOTTAS DISEASE, LOEYS-DIETZ SYNDROME 2, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, CENTRONUCLEAR MYOPATHY 5, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, PCWH SYNDROME, SADDAN, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, HARTSFIELD SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, SPINOCEREBELLAR ATAXIA 21, PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER), FANCONI ANEMIA, COMPLEMENTATION GROUP A, PAROXYSMAL EXTREME PAIN DISORDER, ALPORT SYNDROME, AUTOSOMAL DOMINANT, OSTEOGENESIS IMPERFECTA, TYPE III, CEREBROOCULOFACIOSKELETAL SYNDROME 3, LEPRECHAUNISM, CAPOS SYNDROME, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, PARKINSON DISEASE 1, ?MENTAL RETARDATION, X-LINKED 100, FRONTOMETAPHYSEAL DYSPLASIA, LOEYS-DIETZ SYNDROME 3, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1}, HYPOPHOSPHATEMIC RICKETS, AR, CORNELIA DE LANGE SYNDROME 2, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, AXENFELD-RIEGER SYNDROME, TYPE 1, FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3, ROBINOW SYNDROME, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 89, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, CHOROID PLEXUS PAPILLOMA, PAPILLORENAL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, WISKOTT-ALDRICH SYNDROME, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, ?BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2, COFFIN-SIRIS SYNDROME 4, ?PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS, ?DYSTONIA, JUVENILE-ONSET, DEAFNESS, AUTOSOMAL RECESSIVE 35, IMMUNODEFICIENCY 8, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, KOSAKI OVERGROWTH SYNDROME, BETHLEM MYOPATHY 1, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MEGALOCORNEA 1, X-LINKED, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, MYOTONIC DYSTROPHY 2, CHARCOT-MARIE-TOOTH DISEASE, TYPE 1B, TANGIER DISEASE, ?CHARGE SYNDROME, CHARGE SYNDROME, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H, ALAGILLE SYNDROME 2, ?IMMUNODEFICIENCY 13, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, HYPOTHYROIDISM, CONGENITAL, DUE TO THYROID DYSGENESIS OR HYPOPLASIA, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, LOEYS-DIETZ SYNDROME 1, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, OPITZ-KAVEGGIA SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, AGAMMAGLOBULINEMIA 4, HOLOPROSENCEPHALY 11, SEIZURES, CORTICAL BLINDNESS, MICROCEPHALY SYNDROME, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, ?BLEEDING DISORDER, PLATELET-TYPE, 19, WATSON SYNDROME, RENAL ADYSPLASIA, ACROMICRIC DYSPLASIA, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, LADD SYNDROME, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, RUBINSTEIN-TAYBI SYNDROME 2, OHDO SYNDROME, X-LINKED, MOHR-TRANEBJAERG SYNDROME, APERT SYNDROME, WAARDENBURG SYNDROME, TYPE 2D, MASA SYNDROME, CRASH SYNDROME, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, {CRANIOSYNOSTOSIS 5, SUSCEPTIBILITY TO}, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, {CELIAC DISEASE, SUSCEPTIBILITY TO}, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, EPISODIC ATAXIA, TYPE 5, THANATOPHORIC DYSPLASIA, TYPE II, SPINOCEREBELLAR ATAXIA 5, FRASER SYNDROME, MULTIPLE SULFATASE DEFICIENCY, EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18, FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE, HYPOPHOSPHATASIA, CHILDHOOD, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA WITH COLOBOMA 5, SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION SYNDROME, BARAITSER-WINTER SYNDROME 2, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, CARDIOFACIOCUTANEOUS SYNDROME, STICKLER SYNDROME, TYPE I, MYOPATHY, TUBULAR AGGREGATE, 1, HERMANSKY-PUDLAK SYNDROME 1, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, MENTAL RETARDATION, X-LINKED 99, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PSEUDOHYPOPARATHYROIDISM IC, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, DIAPHANOSPONDYLODYSOSTOSIS, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, TRIGONOCEPHALY 1, SMITH-LEMLI-OPITZ SYNDROME, {HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA}, HUNTINGTON DISEASE, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, TATTON-BROWN-RAHMAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, PERRY SYNDROME, RICKETS, VITAMIN D-RESISTANT, TYPE IIA, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, RUBINSTEIN-TAYBI SYNDROME, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, LUJAN-FRYNS SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, CATSHL SYNDROME, NEMALINE MYOPATHY 7, AUTOSOMAL RECESSIVE, COWCHOCK SYNDROME, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, NEPHROTIC SYNDROME, TYPE 8, GLAUCOMA 3A, PRIMARY OPEN ANGLE, CONGENITAL, JUVENILE, OR ADULT ONSET, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, JACKSON-WEISS SYNDROME, DYSTONIA-12, ARTHROGRYPOSIS, DISTAL, TYPE 2A, WAARDENBURG SYNDROME, TYPE 3, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, OSTEOGENESIS IMPERFECTA, TYPE II, MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, WAARDENBURG SYNDROME, TYPE 2A, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 20/26, ?BARDET-BIEDL SYNDROME 11, HOLOPROSENCEPHALY-9, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 3, SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, EPISODIC ATAXIA, TYPE 6, NEUROFIBROMATOSIS, TYPE 2, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, ECTOPIA LENTIS, FAMILIAL, DEAFNESS, AUTOSOMAL RECESSIVE 24, MYOPIA 23, AUTOSOMAL RECESSIVE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, EHLERS-DANLOS SYNDROME, TYPE IV, BLEEDING DISORDER, PLATELET-TYPE, 17, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, LISSENCEPHALY 3, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, WAGNER SYNDROME 1, CONE-ROD DYSTROPHY 10, MYOPATHY, MYOFIBRILLAR, 6, RENPENNING SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, CONGENITAL HEART DEFECTS, NONSYNDROMIC, 1, X-LINKED, HETEROTAXY, VISCERAL, 1, X-LINKED, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, ALEXANDER DISEASE, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, TIETZ ALBINISM-DEAFNESS SYNDROME, MENTAL RETARDATION, X-LINKED 90, FEINGOLD SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, SPINOCEREBELLAR ATAXIA 42, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, FANCONI ANEMIA, COMPLEMENTATION GROUP Q, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

TCF12, LRPAP1, LAMB1, PLOD3, MPDZ, GNAS, GLI3, COL3A1, ATP6V1B1, SOX2, SEMA4A, PAFAH1B1, TRIP4, AKT2, NOG, EGR2, IL1B, DNM2, NCF4, POR, TGFBR2, CREBBP, PTEN, NF2, SCN4A, F13A1, KL, ERBB3, COL6A2, P4HB, CD79A, DAG1, MTOR, LAMA1, LEP, FGF17, AIFM1, TUBB2B, SMARCE1, CCND1, SPARC, SPEG, ITPR1, DUSP6, DNMT3A, TNC, TBX1, CAV3, TUBG1, CTNNB1, SMAD4, HDAC6, CTDP1, PCK1, PQBP1, NUP62, PPP2R1A, HES7, AKT1, INPPL1, AIP, DIAPH1, PINK1, EZH2, TWIST1, PEX13, EFNB1, DMP1, IL17RD, IRF8, HNRNPK, PIK3R2, COL5A2, GATA4, SPRY4, FGF5, PTPN11, COL6A1, COL4A3, PAK3, BDNF, GRIN2B, TBP, SYNGAP1, EPS8, ATXN3, POLR3B, SEMA3A, TSC1, ACE, CTNNA1, TRIM32, KMT2A, MMP1, ACTB, SEMA3E, PIK3CA, COL1A2, GFAP, ITGA2B, MYOC, UBB, COL4A5, SPTAN1, ROBO3, TGFBI, GFI1B, CACNB4, EMD, MITF, CAPN3, IL2RG, SF3B4, SHOC2, HOXB1, MAP2K2, CYP7B1, NME1, VWF, NOTCH1, MYCN, ERCC3, CORO1A, FGFR1, MEF2C, CFL2, VCAN, PRKACG, SPRED1, SOX9, GDNF, BAP1, HGF, FGF23, STAT3, BRAF, DMD, SOS2, STIM1, ALPL, ITGA8, BLNK, IGF1, CBS, CTCF, NFKB2, COL4A4, EDNRB, SMC1A, PLEC, VDR, ASCL1, FIBP, APOA1, TP53, LRP2, IKBKB, SNCA, NF1, KIF4A, ESRRB, TUBB4A, SCYL1, OCLN, USH2A, AR, DLG3, PPP2R5D, PAX3, ACTG1, NTRK1, GATA6, DVL1, CACNA1C, IGF1R, COL6A3, KARS, IL6, DCN, PCNA, ATP1A3, PROM1, SMAD3, HSPG2, DDX58, POU3F4, ATIC, PDE4D, F2, MYH14, MED13L, IGBP1, EFTUD2, MAG, AGT, CDK5, ESPN, CDH1, WNT5A, FGF3, SALL4, PNPLA2, TH, CACNA1B, BMPER, JAG1, GRID2, COL2A1, RBPJ, GLI2, ACTA1, DNM1, GRIP1, SMARCA4, RUNX1, CBL, TWIST2, EGFR, IGF2, NOTCH2, PTF1A, MAPT, GATA2, CHRDL1, ACTN1, DCX, PSMB8, ITGA6, MET, NFKBIA, POLR1D, AP4M1, ERCC5, NR2F1, TNFRSF1A, GSC, AP1S2, RPS6KA3, WAS, VCP, ALX4, INS, CDON, COL7A1, ITGB3, PITX3, PAX2, LMX1B, STAT1, FLNA, SYN1, CNTN1, TGFB1, VHL, COL4A1, RDX, PLK4, ITGB2, PTHLH, TUBB3, BIN1, FOXC2, FBN1, DCTN1, IHH, SCN1A, EDN1, RHO, STXBP1, FGFR3, SOX10, RBP4, NRAS, STUB1, MED25, TNFAIP3, PRPF4, MYH9, FGF10, ITGB4, ERCC4, ACVR1, KITLG, TCF4, SOS1, TIMM8A, CACNA1S, LAMTOR2, COL18A1, HRAS, AGPAT2, HTRA1, BAG3, TINF2, PTPRF, TBX4, PDGFB, CAV1, POLR1A, PRPF8, COL1A1, MPZ, CNBP, PABPN1, COL9A2, SLC1A3, PPARG, COL5A1, OTX2, PRKAR1A, EIF2B2, BTK, PLG, CDKN2A, CLASP1, SCN8A, BMP4, SNAI2, ERCC2, PDGFRB, ARHGDIA, HLA-DQA1, DLL4, PTCH1, WNT7A, APOA2, KRAS, PAX6, LRP1, CACNA1D, LHX3, MECOM, CNTNAP1, HS6ST1, AGRN, HLA-DRB1, HTT, ZIC3, PDGFRA, TGFBR1, EP300, TAF1, ADAMTSL4, PTPRC, LRP6, PITX2, PAX8, PLIN1, RET, KCNJ11, CACNA1G, GJA1, SMARCA2, MYH3, USP9X, ZIC2, COL17A1, GCK, CCND2, PRKDC, BRCA1, DTNBP1, MED12, NEFL, MED17, TUBA1A, ITCH, MUSK, SHANK3, DLX5, RUNX2, SUMF1, YAP1, NGF, DHCR7, PRNP, ATM, BRF1, CASK, PRKACA, INSR, AKT3, SCN9A, FGFR2, PLCG2, UBE2A, WNT1, L1CAM, UNC119, SPTBN2, FGF20, DNMT3B, MYH11, ATR, SHH, RYR1, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, ATROPHODERMA VERMICULATUM, AMELOGENESIS IMPERFECTA, TYPE IH, CAMURATI-ENGELMANN DISEASE, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, OSTEOGENESIS IMPERFECTA, TYPE IV, AORTIC ANEURYSM, FAMILIAL THORACIC 9, ?DEAFNESS, X-LINKED 6, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, VON WILLEBRAND DISEASE, TYPE 1, ?STICKLER SYNDROME, TYPE V, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, VON WILLIBRAND DISEASE, TYPE 3, OSTEOGENESIS IMPERFECTA, TYPE II, LEUKOCYTE ADHESION DEFICIENCY, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, DYSTONIA 27, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, GLANZMANN THROMBASTHENIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, RENAL ADYSPLASIA, SED CONGENITA, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, KNIEST DYSPLASIA, ACROMICRIC DYSPLASIA, SPONDYLOPERIPHERAL DYSPLASIA, GELEOPHYSIC DYSPLASIA 2, HYPOBETALIPOPROTEINEMIA, ?MYOSCLEROSIS, CONGENITAL, ?SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, ?RETINAL ARTERIES, TORTUOSITY OF, STICKLER SYNDROME, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 19, PORETTI-BOLTSHAUSER SYNDROME, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, PORENCEPHALY 1, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, MARFAN LIPODYSTROPHY SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 56, BETHLEM MYOPATHY 1, ALPORT SYNDROME, AUTOSOMAL DOMINANT, DEAFNESS, AUTOSOMAL RECESSIVE 24, CORNEAL DYSTROPHY, CONGENITAL STROMAL, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, PSEUDOACHONDROPLASIA, HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS, ECTOPIA LENTIS, FAMILIAL, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ALPORT SYNDROME, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1, WEILL-MARCHESANI SYNDROME 2, DOMINANT, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, EHLERS-DANLOS SYNDROME, TYPE IV, KNOBLOCH SYNDROME 1, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL, BLEEDING DISORDER, PLATELET-TYPE, 17, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

COL4A6, APOB, COL6A2, ITGB3, ITGA8, WNT7A, COL1A1, COL5A1, COL5A2, TNC, VWF, TGFB1, COL3A1, ITGB6, F2, DAG1, COL6A1, LAMA1, COL4A4, RDX, COL9A2, COL6A3, ITGB2, ITGA2B, COMP, DLX5, COL4A3, AGRN, ITGA3, RUNX2, DCN, COL4A1, FBN1, COL18A1, COL1A2, CDH1, MFAP5, LRP1, GFI1B, COL13A1, COL8A2, HSPG2, ITGA6, COL2A1, JAM3, COL4A5, COL7A1

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, LOEYS-DIETZ SYNDROME 5, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, CORNEAL DYSTROPHY, LATTICE TYPE I, CAMURATI-ENGELMANN DISEASE, OSTEOGENESIS IMPERFECTA, TYPE IV, AORTIC ANEURYSM, FAMILIAL THORACIC 9, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, OSTEOGENESIS IMPERFECTA, TYPE II, MICROPHTHALMIA, SYNDROMIC 6, IMAGE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, MACULAR DEGENERATION, EARLY-ONSET, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, CORNEAL DYSTROPHY, AVELLINO TYPE, MYHRE SYNDROME, GLANZMANN THROMBASTHENIA, DIAPHANOSPONDYLODYSOSTOSIS, ALAGILLE SYNDROME, RENAL ADYSPLASIA, DENTAL ANOMALIES AND SHORT STATURE, ACROMICRIC DYSPLASIA, CUTIS LAXA, AD, MULTIPLE SYNOSTOSES SYNDROME 2, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA, WAARDENBURG SYNDROME, TYPE 2D, CONTRACTURAL ARACHNODACTYLY, CONGENITAL, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, AMELOGENESIS IMPERFECTA, TYPE IH, MARFAN LIPODYSTROPHY SYNDROME, ECTOPIA LENTIS, FAMILIAL, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB, LOEYS-DIETZ SYNDROME 2, CORNEAL DYSTROPHY, CONGENITAL STROMAL, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, WEILL-MARCHESANI SYNDROME 3, RECESSIVE, GELEOPHYSIC DYSPLASIA 2, LOEYS-DIETZ SYNDROME 1, BECKWITH-WIEDEMANN SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, RENAL TUBULAR DYSGENESIS, LOEYS-DIETZ SYNDROME 4, {EXFOLIATION SYNDROME, SUSCEPTIBILITY TO}, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, BLEEDING DISORDER, PLATELET-TYPE, 17

TGFBR1, TGFB2, ITGA8, ELN, LTBP3, COL1A1, TGFB1, NOTCH1, ITGB6, TGFB3, ITGB3, AGT, TGFBI, SNAI2, LTBP2, BMP4, CDH1, FBLN5, CCND1, EGFR, DCN, FBN1, GDF5, COL1A2, LOXL1, FBN2, MFAP5, LTBP4, CDKN1C, BMPER, JAG1, GFI1B, RUNX2, TGFBR2, SMAD4, ACVR1, EFEMP2, IGF1

BARDET-BIEDL SYNDROME 10, EVEN-PLUS SYNDROME, RETINITIS PIGMENTOSA-40, HYPER-IGE RECURRENT INFECTION SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE), ?RETINITIS PIGMENTOSA 67, FANCONI ANEMIA, COMPLEMENTATION GROUP A, ALSTROM SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, SENIOR-LOKEN SYNDROME 4, MENTAL RETARDATION, X-LINKED 102, ?OROFACIODIGITAL SYNDROME XIV, JOUBERT SYNDROME 9, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), ?BARDET-BIEDL SYNDROME 19, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, NEPHRONOPHTHISIS 18, RETINITIS PIGMENTOSA 2, RENAL-HEPATIC-PANCREATIC DYSPLASIA 1, MECKEL SYNDROME 2, HERMANSKY-PUDLAK SYNDROME 1, BARDET-BIEDL SYNDROME 6, ?SPINOCEREBELLAR ATAXIA 26, MYOPATHY, MYOFIBRILLAR, 2, ATAXIA, SPASTIC, 5, AUTOSOMAL RECESSIVE, HUTCHINSON-GILFORD PROGERIA, DYSAUTONOMIA, FAMILIAL, BARDET-BIEDL SYNDROME 17, CORNELIA DE LANGE SYNDROME 3, MITOCHONDRIAL DNA-DEPLETION SYNDROME 3, HEPATOCEREBRAL, BARDET-BIEDL SYNDROME 3, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3, SPINOCEREBELLAR ATAXIA 28, SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY, JOUBERT SYNDROME 24, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, AURICULOCONDYLAR SYNDROME 3, SENIOR-LOKEN SYNDROME 5, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, MANDIBULOACRAL DYSPLASIA, SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS, RETINITIS PIGMENTOSA 58, RUBINSTEIN-TAYBI SYNDROME, CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY, RENAL TUBULAR DYSGENESIS, BARDET-BIEDL SYNDROME 16, SPINAL MUSCULAR ATROPHY, X-LINKED 2, INFANTILE, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, OROFACIODIGITAL SYNDROME IV, ATAXIA-TELANGIECTASIA, LEUKODYSTROPHY, HYPOMYELINATING, 4, ?PERRAULT SYNDROME 2, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, BARDET-BIEDL SYNDROME 4, ADAMS-OLIVER SYNDROME 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, BARDET-BIEDL SYNDROME 7, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, PERRY SYNDROME, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 16, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5, ?SECKEL SYNDROME 4, LOEYS-DIETZ SYNDROME 3, JOUBERT SYNDROME 6, JOUBERT SYNDROME 2, MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, ?SECKEL SYNDROME 6, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, LEUKODYSTROPHY, HYPOMYELINATING, 10, PEUTZ-JEGHERS SYNDROME, ?OPTIC ATROPHY 9, CATARACT 16, MULTIPLE TYPES, JOUBERT SYNDROME-3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 36, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 1, GLUTARIC ACIDEMIA IIA, GLUTARIC ACIDEMIA IIC, GLUTARIC ACIDEMIA IIB, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, JOUBERT SYNDROME 5, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, DIAMOND-BLACKFAN ANEMIA 6, COFFIN-SIRIS SYNDROME 3, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MECKEL SYNDROME 6, NEPHRONOPHTHISIS 11, CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE), MECKEL SYNDROME 1, ACHONDROGENESIS, TYPE IA, MALOUF SYNDROME, JOUBERT SYNDROME 15, GALACTOSIALIDOSIS, SENIOR-LOKEN SYNDROME 6, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, ?MICROHYDRANENCEPHALY, CORPUS CALLOSUM AGENESIS, BARAITSER-WINTER SYNDROME 1, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, DEAFNESS, AUTOSOMAL RECESSIVE 89, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, LISSENCEPHALY 3, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, BARDET-BIEDL SYNDROME 13, NEPHRONOPHTHISIS 13, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2, CRANIOECTODERMAL DYSPLASIA 1, MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE), COACH SYNDROME, MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3, GRISCELLI SYNDROME, TYPE 1, ?MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE, KLEEFSTRA SYNDROME, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1, ?JOUBERT SYNDROME 22, OCULOECTODERMAL SYNDROME, SENIOR-LOKEN SYNDROME-1, ?BARDET-BIEDL SYNDROME 18, IMMUNODEFICIENCY 33, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BARDET-BIEDL SYNDROME 12, COFFIN-SIRIS SYNDROME 4, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, SECKEL SYNDROME 5, MYOTONIC DYSTROPHY 2, IMMUNODEFICIENCY 8, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, ?SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY, BARDET-BIEDL SYNDROME 8, LEUKODYSTROPHY, HYPOMYELINATING, 6, RESTRICTIVE DERMOPATHY, LETHAL, MUSCULAR DYSTROPHY, CONGENITAL, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, MECKEL SYNDROME 3, CRANIOECTODERMAL DYSPLASIA 3, ?MYASTHENIC SYNDROME, CONGENITAL, 18, LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA), NICOLAIDES-BARAITSER SYNDROME, JOUBERT SYNDROME 8, BASEL-VANAGAIT-SMIRIN-YOSEF SYNDROME, PERRAULT SYNDROME 5, JOUBERT SYNDROME 4, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, DARIER DISEASE, NOONAN SYNDROME 9, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, JOUBERT SYNDROME 7, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY, RETINITIS PIGMENTOSA 45, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, CRANIOECTODERMAL DYSPLASIA 2, SENIOR-LOKEN SYNDROME 8, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BLEEDING DISORDER, PLATELET-TYPE, 17, CHROMOSOME 5Q14.3 DELETION SYNDROME, MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS, CHOROID PLEXUS PAPILLOMA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, RETINITIS PIGMENTOSA 74, SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY, RITSCHER-SCHINZEL SYNDROME 2, MACULAR DEGENERATION, X-LINKED ATROPHIC, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 11, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BARDET-BIEDL SYNDROME 5, JOUBERT SYNDROME 10, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, MECKEL SYNDROME 5, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, BARDET-BIEDL SYNDROME 2, INFANTILE CEREBELLAR-RETINAL DEGENERATION, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, RETINITIS PIGMENTOSA 11, SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT, MYHRE SYNDROME, LISSENCEPHALY 4 (WITH MICROCEPHALY), OROFACIODIGITAL SYNDROME I, ?MECKEL SYNDROME 8, SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY, ?CRANIOECTODERMAL DYSPLASIA 4, ?RETINITIS PIGMENTOSA 23, JOUBERT SYNDROME 18, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 4, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ?RETINITIS PIGMENTOSA 51, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, SENIOR-LOKEN SYNDROME 9, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, BARDET-BIEDL SYNDROME 9, DIAMOND-BLACKFAN ANEMIA 7, RUBINSTEIN-TAYBI SYNDROME 2, NEPHRONOPHTHISIS 15, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15, PALLISTER-HALL SYNDROME, QUESTION MARK EARS, ISOLATED, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE), CHEDIAK-HIGASHI SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE, RETINITIS PIGMENTOSA 71, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, SHORT-RIB THORACIC DYSPLASIA 7 WITH OR WITHOUT POLYDACTYLY, HERMANSKY-PUDLAK SYNDROME 7, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

MPDZ, TMEM216, PAFAH1B1, TCTN3, LMNA, PRPF31, LZTFL1, ACTB, NEK2, IKBKG, TCTN2, CTSA, RPL5, MYO5A, PPARG, AGTR1, BBS4, UBA1, NPHP4, EDN1, CTNNB1, STK11, CDKN2A, BBIP1, DST, NDRG1, PDE6D, TRIP11, CDK5RAP2, TTBK2, SMARCA4, NOP56, TTC8, GFI1B, AFG3L2, SMAD4, MKS1, CREBBP, PRKAG2, IKBKAP, DYNC2H1, SPAST, SMARCA2, CC2D2A, WDR34, PLEC, TUBA1A, CEP135, AR, BBS10, MRPS22, PIGT, CLUAP1, THRA, NR1I3, BUB1B, BBS9, CORO1A, EDNRA, MEF2C, POLG, LEP, SDCCAG8, GFM1, GFPT1, CEP152, TUBB2B, MRPL44, CRYAB, NFKBIA, TSFM, C2CD3, SUCLA2, CCDC22, EP300, MKKS, GLI3, RBPJ, TUBGCP4, EFTUD2, ARL6, RB1, BBS2, HCFC1, STAT3, IQCB1, AHI1, PDE6B, INS, SNAP25, CEP83, BBS12, TUBG1, DDX3X, TRAF3IP1, ETFA, TTC21B, INPP5E, CEP41, MRPS16, CEP290, ZNF513, HDAC6, EEF2, CTDP1, HSPD1, DMD, VHL, CEP164, PPP2R1A, TUBB, PYCR2, PLK4, TCTN1, AKT1, TUBB3, NDE1, NPHP3, BRCA1, DTNBP1, KARS, TMEM67, HARS2, DCTN1, CNGB1, RPGRIP1L, RHO, RP2, IFT140, HSPA9, WDR19, STXBP1, ALMS1, POLG2, TUBB4A, DYNC1H1, CENPJ, AGPAT2, IFT122, BBS5, DLG3, SMARCB1, MTFMT, BBS7, ATR, NPHP1, LYST, MED25, ATM, IFT27, CASK, IFT43, PRKACA, IFT172, PCNT, CEP57, TP53, RPGR, BBS1, WDR60, ABCA4, RPL11, OFD1, CNBP, CLASP1, GRIN2B, SMC3, HRAS, ACO2, ARL13B, POLR3B, SMAD3, ATP2A2, EXOC8, SOS2, C10orf2, CEP63, TUFM, WDR35, ATIC

SHORT SYNDROME, CLOVE SYNDROME, SOMATIC, OCULOECTODERMAL SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?FIBROMATOSIS, GINGIVAL, 1, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, CLEFT PALATE, ISOLATED, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1

EGFR, CBL, KRAS, UBB, NRAS, PIK3R1, SOS1, PIK3CA, HRAS

LOEYS-DIETZ SYNDROME 1, IMMUNODEFICIENCY 15, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, DEAFNESS, AUTOSOMAL DOMINANT 20/26, CLEFT PALATE, ISOLATED, {CREUTZFELDT-JAKOB DISEASE, VARIANT, RESISTANCE TO}, CREUTZFELDT-JAKOB DISEASE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, INCONTINENTIA PIGMENTI, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, IMMUNODEFICIENCY 33, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, ?IMMUNODEFICIENCY 37, IMMUNODEFICIENCY 38, BANNAYAN-RILEY-RUVALCABA SYNDROME, SHORT SYNDROME, BARAITSER-WINTER SYNDROME 2, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CLOVE SYNDROME, SOMATIC, AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM, IMMUNODEFICIENCY 19, FECHTNER SYNDROME, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, IMMUNODEFICIENCY 17, CD3 GAMMA DEFICIENT, WISKOTT-ALDRICH SYNDROME, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, SEBASTIAN SYNDROME, MENTAL RETARDATION, X-LINKED 30/47, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE, DEAFNESS, AUTOSOMAL DOMINANT 17, EPSTEIN SYNDROME, RABSON-MENDENHALL SYNDROME, {CELIAC DISEASE, SUSCEPTIBILITY TO}, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, ?MYOPATHY, SCAPULOHUMEROPERONEAL, LEOPARD SYNDROME 1, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

ACTA1, IRF8, CD3D, UBB, ACTG1, ISG15, PIK3R2, BCL10, PTPN11, HLA-DRB1, MYH9, IKBKG, CD3E, INSR, AKT1, PAK3, CBL, HLA-DQA1, CD3G, NFKBIA, ITCH, HLA-DQB1, PCNA, TGFBR1, PIK3CA, TNFRSF1A, EGFR, PTEN, IKBKB, WAS, PTPRC, PIK3R1

BARAITSER-WINTER SYNDROME 1, ATROPHODERMA VERMICULATUM, THANATOPHORIC DYSPLASIA, TYPE II, SPINOCEREBELLAR ATAXIA 5, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ACHONDROPLASIA, THANATOPHORIC DYSPLASIA, TYPE I, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DONNAI-BARROW SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, BARAITSER-WINTER SYNDROME 2, MYOTUBULAR MYOPATHY, X-LINKED, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, PORETTI-BOLTSHAUSER SYNDROME, LISSENCEPHALY 5, MENTAL RETARDATION, X-LINKED 99, TRIGONOCEPHALY 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ?MYOPATHY, CONGENITAL, COMPTON-NORTH, INSENSITIVITY TO PAIN, CONGENITAL, HSAN2D, AUTOSOMAL RECESSIVE, COFFIN-LOWRY SYNDROME, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, HARTSFIELD SYNDROME, CORPUS CALLOSUM, PARTIAL AGENESIS OF, PAROXYSMAL EXTREME PAIN DISORDER, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, BENT BONE DYSPLASIA SYNDROME, HYPOCHONDROPLASIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, SUBCORTICAL LAMINAL HETEROPIA, X-LINKED, LISSENCEPHALY, X-LINKED, ?MENTAL RETARDATION, X-LINKED 100, CATSHL SYNDROME, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, JACKSON-WEISS SYNDROME, SADDAN, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 3, LISSENCEPHALY 3, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, ADAMS-OLIVER SYNDROME 5, BEARE-STEVENSON CUTIS GYRATA SYNDROME, OSTEOGLOPHONIC DYSPLASIA, DEAFNESS, AUTOSOMAL DOMINANT 56, NOONAN SYNDROME 4, USHER SYNDROME, TYPE 2A, {RETINAL DISEASE IN USHER SYNDROME TYPE IIA, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, LETHAL CONGENITAL CONTRACTURE SYNDROME 7, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED, ?DYSTONIA, JUVENILE-ONSET, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, LEUKODYSTROPHY, HYPOMYELINATING, 6, MUENKE SYNDROME, ERYTHERMALGIA, PRIMARY, SMALL FIBER NEUROPATHY, NICOLAIDES-BARAITSER SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 24, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MYASTHENIC SYNDROME, CONGENITAL, 16, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, {DRAVET SYNDROME, MODIFIER OF}, DRAVET SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, ?FIBROMATOSIS, GINGIVAL, 1, GLANZMANN THROMBASTHENIA, DEAFNESS, AUTOSOMAL RECESSIVE 39, CROUZON SYNDROME, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, ?COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA, EPILEPTIC ENCEPHALOPATHY LENNOX-GASTAUT TYPE, APERT SYNDROME, MASA SYNDROME, CRASH SYNDROME, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC

FGFR2, DNM1, HGF, DLG3, TUBB2B, LAMA1, NGF, SMARCA2, TUBA1A, PAFAH1B1, ACTG1, CDK5, ACTB, TNC, NOTCH1, LAMB1, LRP1, CNTN1, FGFR1, USP9X, GRIN2B, RDX, SCN8A, PLK4, SCN9A, ITGA2B, TUBB3, BIN1, SCN4A, SOS1, DCX, F2, TUBB4A, VCP, TP53, LRP2, CLASP1, L1CAM, ITGB2, SPTAN1, MAP2K2, DNM2, SCN1A, FGFR3, SPTBN2, AKT1, HRAS, EGFR, MYH11, KIF4A, RPS6KA3, CDH1, ITGB3, CNTNAP1, CTNNB1, USH2A

JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CLEFT PALATE, ISOLATED, GM1-GANGLIOSIDOSIS, TYPE I, GM1-GANGLIOSIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS, MPS-III-A, FRUCTOSE INTOLERANCE, MUCOPOLYSACCHARIDOSIS II, MYHRE SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), MUCOPOLYSACCHARIDOSIS TYPE IIIC (SANFILIPPO C), GM1-GANGLIOSIDOSIS, TYPE III, MUCOPOLYSACCHARIDOSIS VII, MUCOPOLYSACCHARIDOSIS TYPE IIIB (SANFILIPPO B), MUCOPOLYSACCHARIDOSIS IS, MUCOPOLYSACCHARIDOSIS IH/S, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), EPILEPSY, PROGRESSIVE MYOCLONIC 2B (LAFORA), EPILEPSY, PROGRESSIVE MYOCLONIC 2A (LAFORA), MUCOPOLYSACCHARIDOSIS TYPE IIID, MUCOPOLYSACCHARIDOSIS IH, RETINITIS PIGMENTOSA 73, MUCOPOLYSACCHARIDOSIS IVA

SGSH, ARSB, EPM2A, NAGLU, GLB1, IDS, GUSB, ALDOB, UBB, NHLRC1, GATA4, SMAD4, HGSNAT, NEU1, IDUA, GNS, GALNS

CORNEAL DYSTROPHY, LATTICE TYPE I, ATROPHODERMA VERMICULATUM, SUPRANUCLEAR PALSY, PROGRESSIVE, HYPER-IGE RECURRENT INFECTION SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, SYNDROMIC, MICROPHTHALMIA, SYNDROMIC 6, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, WOLFRAM SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC STENOSIS, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, WITH PYLORIC ATRESIA, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2, PONTOCEREBELLAR HYPOPLASIA, TYPE 1B, MYOPIA 6, COLE-CARPENTER SYNDROME 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, DYSAUTONOMIA, FAMILIAL, PORENCEPHALY 1, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHROMATOPSIA 7, ?RETINAL ARTERIES, TORTUOSITY OF, SALLA DISEASE, SENIOR-LOKEN SYNDROME 6, MANDIBULOACRAL DYSPLASIA, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME, RENAL TUBULAR DYSGENESIS, WARSAW BREAKAGE SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION, COFFIN-LOWRY SYNDROME, POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, LEUKODYSTROPHY, HYPOMYELINATING, 11, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, BOHRING-OPITZ SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ?MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, VON WILLEBRAND DISEASE, TYPE 1, INCONTINENTIA PIGMENTI, SECKEL SYNDROME 1, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MENTAL RETARDATION, AUTOSOMAL DOMINANT 34, MENTAL RETARDATION, X-LINKED 102, CATARACT 16, MULTIPLE TYPES, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, ANGELMAN SYNDROME, ?CATARACT 41, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, DIAMOND-BLACKFAN ANEMIA 4, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II, MUCOPOLYSACCHARIDOSIS TYPE IVB (MORQUIO), PRADER-WILLI SYNDROME, HARTNUP DISORDER, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, HAY-WELLS SYNDROME, PSEUDOHYPOPARATHYROIDISM IA, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, WAARDENBURG SYNDROME, TYPE 4C, RETINITIS PIGMENTOSA 74, LYSYL HYDROXYLASE 3 DEFICIENCY, KAHRIZI SYNDROME, THROMBOSIS, HYPERHOMOCYSTEINEMIC, HOMOCYSTINURIA, B6-RESPONSIVE AND NONRESPONSIVE TYPES, RETINITIS PIGMENTOSA 59, NOONAN SYNDROME 4, HEMOSIDEROSIS, SYSTEMIC, DUE TO ACERULOPLASMINEMIA, CEREBELLAR ATAXIA, [HYPOCERULOPLASMINEMIA, HEREDITARY], ?ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, BRACHYDACTYLY, TYPE E2, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, FRIEDREICH ATAXIA WITH RETAINED REFLEXES, FRIEDREICH ATAXIA, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME, WIEDEMANN-STEINER SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 6, EHLERS-DANLOS SYNDROME, TYPE VIIC, LIPODYSTROPHY, FAMILIAL PARTIAL, 2, ?CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, HYPOTRICHOSIS 12, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, CRANIOLENTICULOSUTURAL DYSPLASIA, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, WEILL-MARCHESANI-LIKE SYNDROME, WEILL-MARCHESANI SYNDROME 1, RECESSIVE, MANDIBULOFACIAL DYSOSTOSIS, GUION-ALMEIDA TYPE, DEAFNESS, X-LINKED 5, LATERAL MENINGOCELE SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, GLANZMANN THROMBASTHENIA, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38, DEAFNESS, AUTOSOMAL RECESSIVE 39, NOONAN SYNDROME 7, CROUZON SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, ?MITOCHONDRIAL COMPLEX IV DEFICIENCY,; MITOCHONDRIAL COMPLEX IV DEFICIENCY, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY, MARFAN LIPODYSTROPHY SYNDROME, XERODERMA PIGMENTOSUM, GROUP B, 2-METHYLBUTYRYLGLYCINURIA, HYPOMYELINATION, GLOBAL CEREBRAL, HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME, WEILL-MARCHESANI SYNDROME 2, DOMINANT, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, LEOPARD SYNDROME 1, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC, BARAITSER-WINTER SYNDROME 1, AORTIC ANEURYSM, FAMILIAL THORACIC 9, ?NEURODEGENERATION WITH OPTIC ATROPHY, CHILDHOOD ONSET, FANCONI ANEMIA, COMPLEMENTATION GROUP A, BENT BONE DYSPLASIA SYNDROME, SPINAL AND BULBAR MUSCULAR ATROPHY OF KENNEDY, BARTH SYNDROME, BONE MARROW FAILURE SYNDROME 1, CORNEAL DYSTROPHY, AVELLINO TYPE, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6, MELNICK-NEEDLES SYNDROME, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7, SPINOCEREBELLAR ATAXIA 14, ?SPINOCEREBELLAR ATAXIA 26, AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY, HYPOTRICHOSIS 11, LEOPARD SYNDROME 3, ALBINISM, OCULOCUTANEOUS, TYPE III, CORNEAL DYSTROPHY, CONGENITAL STROMAL, PSEUDOHYPOPARATHYROIDISM IC, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, PSEUDOPSEUDOHYPOPARATHYROIDISM, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, MEIER-GORLIN SYNDROME 5, LYMPHEDEMA-DISTICHIASIS SYNDROME, LYMPHEDEMA-DISTICHIASIS SYNDROME WITH RENAL DISEASE AND DIABETES MELLITUS, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 29, ATAXIA-TELANGIECTASIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, OSTEOGENESIS IMPERFECTA, TYPE IV, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, PERIODIC FEVER, FAMILIAL, OLIGODONTIA-COLORECTAL CANCER SYNDROME, DIAMOND-BLACKFAN ANEMIA 8, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, KENNY-CAFFEY SYNDROME, TYPE 1, CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE, JOUBERT SYNDROME 5, COFFIN-SIRIS SYNDROME 3, ECTODERMAL DYSPLASIA 3, WITKOP TYPE, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14, STRIATONIGRAL DEGENERATION, INFANTILE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, FRAXE, CHIME SYNDROME, ?MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2R, MALOUF SYNDROME, HERMANSKY-PUDLAK SYNDROME 2, RABSON-MENDENHALL SYNDROME, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY, SEGAWA SYNDROME, RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, RIDDLE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, IMMUNODEFICIENCY 26, WITH OR WITHOUT NEUROLOGIC ABNORMALITIES, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, ADAMS-OLIVER SYNDROME 5, KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED, EVEN-PLUS SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 56, EMERY-DREIFUSS MUSCULAR DYSTROPHY 3, AR, KNOBLOCH SYNDROME 1, MUSCULAR DYSTROPHY, CONGENITAL, MYASTHENIC SYNDROME, CONGENITAL, 5, DEAFNESS, AUTOSOMAL DOMINANT 6/14/38, COMMON VARIABLE IMMUNODEFICIENCY 1, SPINOCEREBELLAR ATAXIA 1, NOONAN SYNDROME 10, ALAGILLE SYNDROME, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, ?MYASTHENIC SYNDROME, CONGENITAL, 18, ?HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 5, IMMUNODEFICIENCY 23, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, SPINOCEREBELLAR ATAXIA 17, CORNELIA DE LANGE SYNDROME 2, MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CORNEAL FLECK DYSTROPHY, DEAFNESS, AUTOSOMAL DOMINANT 20/26, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, ICHTHYOSIS, X-LINKED, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, SIALIC ACID STORAGE DISORDER, INFANTILE, LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3, INSULIN RESISTANCE, SEVERE, DIGENIC, ASPARAGINE SYNTHETASE DEFICIENCY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, GELEOPHYSIC DYSPLASIA 2, LEUKODYSTROPHY, HYPOMYELINATING, 9, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1, TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2, MICROCORNEA, MYOPIC CHORIORETINAL ATROPHY, AND TELECANTHUS, ?OLMSTED SYNDROME, X-LINKED, 3MC SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, HYPOBETALIPOPROTEINEMIA, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, TUMOR PREDISPOSITION SYNDROME, HYPOTHRYOIDISM, CONGENITAL, NONGOITROUS 4, SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, XERODERMA PIGMENTOSUM, GROUP D, CEROID LIPOFUSCINOSIS, NEURONAL, 10, RETINITIS PIGMENTOSA 70, HERMANSKY-PUDLAK SYNDROME 7, REVESZ SYNDROME, IMMUNODEFICIENCY 15, CAMURATI-ENGELMANN DISEASE, 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, ?OPTIC ATROPHY 9, MENTAL RETARDATION, X-LINKED 3 (METHYLMALONIC ACIDEMIA AND HOMOCYSTEINEMIA, CBLX TYPE ), AMISH INFANTILE EPILEPSY SYNDROME, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET, COENZYME Q10 DEFICIENCY, PRIMARY, 6, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, PONTOCEREBELLAR HYPOPLASIA, TYPE 1C, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, WERNER SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, DEAFNESS, AUTOSOMAL RECESSIVE 24, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, LOEYS-DIETZ SYNDROME 3, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, PCWH SYNDROME, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14, CEREBRO-OCULO-FACIO-SKELETAL SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, LEPRECHAUNISM, USHER SYNDROME TYPE 3B, DYSPLASMINOGENEMIA, PLASMINOGEN DEFICIENCY, TYPE I, FOVEAL HYPOPLASIA 1, DIAMOND-BLACKFAN ANEMIA 6, FRONTOMETAPHYSEAL DYSPLASIA, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, DIAMOND-BLACKFAN ANEMIA 9, FILS SYNDROME, IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1, LIMB-MAMMARY SYNDROME, ?DIAMOND-BLACKFAN ANEMIA 11, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, DIAMOND-BLACKFAN ANEMIA 10, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, FACTOR VII DEFICIENCY, GROWTH RETARDATION WITH DEAFNESS AND MENTAL RETARDATION DUE TO IGF1 DEFICIENCY, LISSENCEPHALY 3, OSTEOGENESIS IMPERFECTA, TYPE I, BEARE-STEVENSON CUTIS GYRATA SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, COLE-CARPENTER SYNDROME 1, GRISCELLI SYNDROME, TYPE 1, CORNELIA DE LANGE SYNDROME 3, ?DEAFNESS, AUTOSOMAL RECESSIVE 91, OCULOECTODERMAL SYNDROME, PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY, ECTOPIA LENTIS ET PUPILLAE, XERODERMA PIGMENTOSUM, GROUP C, OSTEOGENESIS IMPERFECTA, TYPE II, COFFIN-SIRIS SYNDROME 4, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AD, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MARINESCO-SJOGREN SYNDROME, TRICHOHEPATOENTERIC SYNDROME 2, TANGIER DISEASE, CORNELIA DE LANGE SYNDROME 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, COENZYME Q10 DEFICIENCY, PRIMARY, 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, LOEYS-DIETZ SYNDROME 1, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IR, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42, KOSAKI OVERGROWTH SYNDROME, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, BLOOM SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, BARDET-BIEDL SYNDROME 2, INFANTILE CEREBELLAR-RETINAL DEGENERATION, GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE III, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, DIAMOND-BLACKFAN ANEMIA 3, MYHRE SYNDROME, 17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY, ACROMICRIC DYSPLASIA, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, ACHALASIA-ADDISONIANISM-ALACRIMIA SYNDROME, CONGENITAL DISORDER OF DEGLYCOSYLATION, MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY, ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE, LADD SYNDROME, FEINGOLD SYNDROME, RUBINSTEIN-TAYBI SYNDROME 2, GELEOPHYSIC DYSPLASIA 1, MOHR-TRANEBJAERG SYNDROME, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, {MULTIPLE SYSTEM ATROPHY, SUSCEPTIBILITY TO}, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELIKE TYPE, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3, STAR SYNDROME, ?MICROCEPHALY 11, PRIMARY, AUTOSOMAL RECESSIVE, MULTIPLE SULFATASE DEFICIENCY, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, TREACHER COLLINS SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SHORT SYNDROME, DIAMOND BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS, MICROPHTHALMIA WITH COLOBOMA 5, ADENYLOSUCCINASE DEFICIENCY, 3-M SYNDROME 1, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, BARAITSER-WINTER SYNDROME 2, CARDIOFACIOCUTANEOUS SYNDROME, MYOPATHY, MYOFIBRILLAR, 2, GILLESPIE SYNDROME, HUTCHINSON-GILFORD PROGERIA, HERMANSKY-PUDLAK SYNDROME 1, BARDET-BIEDL SYNDROME 3, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PETERS-PLUS SYNDROME, NEUROPATHY, HEREDITARY SENSORY, TYPE IE, RUBINSTEIN-TAYBI SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 21, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14, NESTOR-GUILLERMO PROGERIA SYNDROME, ADULT SYNDROME, LEUKODYSTROPHY, HYPOMYELINATING, 4, RENAL TUBULAR ACIDOSIS WITH DEAFNESS, THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE, MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 17, TATTON-BROWN-RAHMAN SYNDROME, OCULODENTODIGITAL DYSPLASIA, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1, PERRY SYNDROME, MUCOPOLYSACCHARIDOSIS TYPE VI (MAROTEAUX-LAMY), RICKETS, VITAMIN D-RESISTANT, TYPE IIA, OVARIOLEUKODYSTROPHY, LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, LEUKOENCEPHALY WITH VANISHING WHITE MATTER, DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FEATURES, AND SPARSE HAIR, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, BERNARD-SOULIER SYNDROME, TYPE C, BERNARD-SOULIER SYNDROME, TYPE B, BERNARD-SOULIER SYNDROME, TYPE A1 (RECESSIVE), GIANT PLATELET DISORDER, ISOLATED, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4, SPINOCEREBELLAR ATAXIA 36, COWCHOCK SYNDROME, MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 1, ADAMS-OLIVER SYNDROME 3, BLEEDING DISORDER, PLATELET-TYPE, 15, NEPHROTIC SYNDROME, TYPE 8, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, JACKSON-WEISS SYNDROME, THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, LETHAL CONGENITAL CONTRACTURE SYNDROME 1, TUBEROUS SCLEROSIS 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, GALACTOSIALIDOSIS, FACTOR X DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT, WAARDENBURG SYNDROME, TYPE 2A, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BJORNSTAD SYNDROME, WEAVER SYNDROME, GM1-GANGLIOSIDOSIS, TYPE I, CORNELIA DE LANGE SYNDROME 4, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, NIEMANN-PICK DISEASE, TYPE C2, IMMUNODEFICIENCY 33, OTOPALATODIGITAL SYNDROME, TYPE I, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, 3-METHYLGLUTACONIC ACIDURIA, TYPE V, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, RESTRICTIVE DERMOPATHY, LETHAL, EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS, MACROCEPHALY/AUTISM SYNDROME, THYROID DYSHORMONOGENESIS 3, PERLMAN SYNDROME, ECTOPIA LENTIS, FAMILIAL, METACHROMATIC LEUKODYSTROPHY, DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1, HYPERTHYROIDISM, NONAUTOIMMUNE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, BLEEDING DISORDER, PLATELET-TYPE, 17, CHOROID PLEXUS PAPILLOMA, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, SPONDYLOCOSTAL DYSOSTOSIS 5, VON WILLIBRAND DISEASE, TYPE 3, BERNARD-SOULIER SYNDROME, TYPE A2 (DOMINANT), WOLCOTT-RALLISON SYNDROME, LEUKOCYTE ADHESION DEFICIENCY, ALEXANDER DISEASE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, GM1-GANGLIOSIDOSIS, TYPE II, DIAMOND-BLACKFAN ANEMIA 1, HYPOGONADOTROPIC HYPOGONADISM 24 WITHOUT ANOSMIA, CEROID LIPOFUSCINOSIS, NEURONAL, 2, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3, GM1-GANGLIOSIDOSIS, TYPE III, SEVERE COMBINED IMMUNODEFICIENCY, T CELL-NEGATIVE, B-CELL/NATURAL KILLER-CELL POSITIVE, SEVERE COMBINED IMMUNODEFICIENCY, T-CELL NEGATIVE, B-CELL/NATURAL KILLER CELL-POSITIVE TYPE, FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, TIETZ ALBINISM-DEAFNESS SYNDROME, MENTAL RETARDATION, X-LINKED 90, MECKEL SYNDROME 4, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, DIAMOND-BLACKFAN ANEMIA 7, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IY, ?MYOPATHY, SCAPULOHUMEROPERONEAL, SMITH-KINGSMORE SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, LEIGH SYNDROME, DUE TO COX IV DEFICIENCY,; LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY,; LEIGH SYNDROME DUE TO CYTOCHROME C OXIDASE DEFICIENCY,; ?LEIGH SYNDROME,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COX4 DEFICIENCY,; LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX 1 DEFICIENCY, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N

APOE, HGF, SNRPE, PLOD3, PROS1, TSC2, NGLY1, PIGW, GP1BA, GNAS, RPL5, ADAMTS18, ALG3, CDC6, SLC17A5, DPM2, FAM58A, NCF4, ARSE, RPS19, GFI1B, CREBBP, RPS24, SLC6A19, PTEN, ECHS1, AXIN2, AR, P4HB, MTOR, MGAT2, ALG11, GRIN2B, AIFM1, CBL, CCND1, ATP6V1B1, AAAS, ITPR1, GALNT3, HSPD1, RPS10, ADAMTSL2, DNMT3A, SMC3, MAN1B1, BANF1, TUBG1, CTNNB1, SSR4, SCO2, SMAD4, CEP290, CD40LG, LEP, CTSD, COLQ, NUP62, PPP2R1A, AKT1, UBE3A, EZH2, KIF11, IL1B, ACTA2, HSPA9, GNE, XRCC4, XPC, PIGN, ASNS, MASP1, HNRNPK, PIGA, PIGL, PTPN11, GATA4, RPL21, RPS26, RARS, MT-CO2, DPM1, GMPPA, ADAM17, PRPF4, CTCF, ATF6, EGFR, EXOC8, FSHB, SEC23A, PARK7, APOB, MMP1, ACTB, COL1A2, B3GLCT, GFAP, GJA1, HCFC1, PGAP1, DES, TGFBI, POLE, JAG1, BBS2, ARHGDIA, MITF, IKBKAP, CUL7, SF3B4, SHOC2, SERPINA1, NOTCH1, MYCN, ERCC3, CBS, EDNRA, EXOSC8, KIF5C, MAFB, SPINT2, ADAMTS10, PIKFYVE, HARS, BAP1, TAZ, FANCA, STS, RB1, FGF23, STAT3, BRAF, SNAP25, PIGV, DPH1, IGF1, SRP72, GMPPB, EEF2, NFKB2, HRAS, NDN, SMC1A, VDR, ATXN1, ERBB3, TP53, IKBKB, PRKCG, SEC24D, ITGA6, DLG3, PPP2R5D, ACTG1, ASXL1, RFT1, TGFB1, MSX1, EIF2AK3, SPTLC1, TBCE, ZBTB16, PLG, BLM, DNMT1, EXOSC3, IL6, CRYAB, PCNA, POLR1C, APC, DHFR, VPS35, ADAMTS17, SMAD3, HSPG2, EXT2, F10, SKIV2L, LMNA, F2, PAFAH1B1, ADSL, RAD21, F7, SERPINB6, IKBKG, CTSA, EFTUD2, CAV1, AGT, PMM2, TAF6, CDK5, CDH1, ALG1, TH, NOP56, ST3GAL5, MBTPS2, ABCA1, RBPJ, ACTA1, SMARCA4, RUNX1, TUBB2B, LZTR1, IGF2, PARN, MAPT, MOGS, ACTN1, GFPT1, PROC, TUBB4A, MET, RPS17, EEF1A2, NR2F1, TNFRSF1A, ADAMTS2, TSHB, ALG6, RPS6KA3, ACVR1, INS, PAM16, TYRP1, DIS3L2, DDX3X, HSD17B10, SDHD, STAT1, TXN2, VHL, BCS1L, ARL6, TG, RDX, FKBP14, BRCA1, ITGB2, PHC1, TUBB3, BIN1, COQ2, FOXC2, FBN1, DCTN1, EDN1, RHO, PIGO, TSHR, ACADSB, RPS7, BTK, EIF2B5, SERPINC1, SMARCB1, LHB, EIF2B1, STXBP1, CENPE, TBP, AP3B1, FGF10, TP63, KITLG, SOS1, HERC2, RPL26, UCHL1, TNC, MFAP5, COQ6, SLC25A12, TINF2, TUFM, ALG13, PDGFB, TPP1, CP, COL1A1, DNAJC19, SRD5A3, PIGT, TAP1, ITGB3, MYO5A, PPARG, AGTR1, PTHLH, EIF2B2, SOX10, CDKN2A, NEU1, ALG2, BMP4, ERCC2, PDGFRB, WFS1, DNMT3B, TIMM8A, ACE, STT3A, KRAS, PAX6, EIF2B4, WRN, LRP1, ARSA, AKT2, ARFGEF2, DHDDS, DDX11, IFNG, DCN, TGFBR1, EP300, CLPB, NOTCH3, ADAMTSL4, PTPRC, REN, COL4A1, RPS28, VWF, PMPCA, PRKDC, PLK4, DTNBP1, DOLK, PGM3, SLC25A4, TUBA1A, ARSB, DNAJC3, SIL1, NPC2, DDOST, RUNX2, SUMF1, GLE1, FLNA, NGF, RNF168, PDHA1, ATM, GLB1, FXN, INSR, EIF2B3, FGFR2, PACS1, RPL11, ATP5A1, DPAGT1, TBX6, ACO2, MPDU1, COL4A3BP, MYH11, ATR, SHH, PIK3R1

BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ACHONDROPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, HYPOCHONDROPLASIA, CROUZON SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?OSTEOGENESIS IMPERFECTA, TYPE XII, IMMUNODEFICIENCY 14, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, ?FIBROMATOSIS, GINGIVAL, 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, PROTEUS SYNDROME, SOMATIC, CLOVE SYNDROME, SOMATIC, SHORT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CATSHL SYNDROME, MUENKE SYNDROME, JACKSON-WEISS SYNDROME, LADD SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, WAARDENBURG SYNDROME, TYPE 1, APERT SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, APLASIA OF LACRIMAL AND SALIVARY GLANDS, WAARDENBURG SYNDROME, TYPE 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, TRICHOMEGALY, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, ?RENAL HYPODYSPLASIA/APLASIA 2, TRIGONOCEPHALY 1, SADDAN, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NOONAN SYNDROME 4

NRAS, FGF23, KRAS, PAX3, SP7, STAT1, FGF10, FGFR1, FGF5, PPP2R1A, LEP, FGF20, FGF17, CDH1, NGF, SOS1, FGFR2, PIK3CD, PIK3CA, AKT1, HRAS, FGFR3, SMAD4, STAT3, SOX2, CTNNB1, PIK3R1

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, WAARDENBURG SYNDROME, TYPE 2A, CORNEAL DYSTROPHY, LATTICE TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OTOPALATODIGITAL SYNDROME, TYPE II, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, ADAMS-OLIVER SYNDROME 6, MICROPHTHALMIA WITH COLOBOMA 5, ?SECKEL SYNDROME 6, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, FOCAL DERMAL HYPOPLASIA, DONNAI-BARROW SYNDROME, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, PAPILLORENAL SYNDROME, SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, MELNICK-NEEDLES SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, EXUDATIVE VITREORETINOPATHY 4, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, LIMB-MAMMARY SYNDROME, CAMURATI-ENGELMANN DISEASE, DYSAUTONOMIA, FAMILIAL, MICROPHTHALMIA, SYNDROMIC 6, WAARDENBURG SYNDROME, TYPE 2D, LEBER CONGENITAL AMAUROSIS 14, RETINITIS PIGMENTOSA, JUVENILE, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, FRASER SYNDROME, TOWNES-BROCKS SYNDROME, TOWNES-BROCKS BRANCHIOOTORENAL-LIKE SYNDROME, LOEYS-DIETZ SYNDROME 2, AGAMMAGLOBULINEMIA, X-LINKED 1, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, TOOTH AGENESIS, SELECTIVE, 7, TRIGONOCEPHALY 1, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF}, {?MACULAR DEGENERATION, AGE-RELATED}, {MACULAR DEGENERATION, AGE-RELATED, 1}, TRICHOMEGALY, RUBINSTEIN-TAYBI SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, IMMUNODEFICIENCY 19, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, SHPRINTZEN-GOLDBERG SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, LOEYS-DIETZ SYNDROME 3, BENT BONE DYSPLASIA SYNDROME, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, PERIODIC FEVER, FAMILIAL, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 2, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, PARKINSON DISEASE 1, CATSHL SYNDROME, FRONTOMETAPHYSEAL DYSPLASIA, NOONAN SYNDROME 9, RENAL TUBULAR DYSGENESIS, SHORT SYNDROME, ADAMS-OLIVER SYNDROME 3, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, TUBEROUS SCLEROSIS 2, SEBASTIAN SYNDROME, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, FECHTNER SYNDROME, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 10, ?TETRA-AMELIA SYNDROME, AXENFELD-RIEGER SYNDROME, TYPE 1, MENTAL RETARDATION, X-LINKED, SYNDROMIC 33, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, RAPP-HODGKIN SYNDROME, OROFACIAL CLEFT 8, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ROBINOW SYNDROME, HAY-WELLS SYNDROME, LADD SYNDROME, ?CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA, SCHOPF-SCHULZ-PASSARGE SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, STARGARDT DISEASE 1, FUNDUS FLAVIMACULATUS, RETINAL DYSTROPHY, EARLY-ONSET SEVERE, MACULAR DEGENERATION, JUVENILE, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, EVEN-PLUS SYNDROME, AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, HARTSFIELD SYNDROME, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, OCULOECTODERMAL SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 38, LEBER CONGENITAL AMAUROSIS 13, IMMUNODEFICIENCY 33, OTOPALATODIGITAL SYNDROME, TYPE I, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?OSTEOGENESIS IMPERFECTA, TYPE XII, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, ALAGILLE SYNDROME, HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, ?LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA, MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8, MICROPHTHALMIA, SYNDROMIC 9, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33, AGAMMAGLOBULINEMIA 1, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, MACROCEPHALY/AUTISM SYNDROME, CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 1, MUENKE SYNDROME, ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1, WAARDENBURG SYNDROME, TYPE 1, DEAFNESS, AUTOSOMAL DOMINANT 17, ODONTOONYCHODERMAL DYSPLASIA, CORNELIA DE LANGE SYNDROME 5, EPSTEIN SYNDROME, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS, RETINITIS PIGMENTOSA 45, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19, BECKWITH-WIEDEMANN SYNDROME, EXUDATIVE VITREORETINOPATHY 1, MEIER-GORLIN SYNDROME 4, WILSON-TURNER SYNDROME, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOCHONDROPLASIA, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, CLOVE SYNDROME, SOMATIC, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, IMAGE SYNDROME, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, INCONTINENTIA PIGMENTI, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, JACKSON-WEISS SYNDROME, ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS, RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME, ALEXANDER DISEASE, PREMATURE AGING SYNDROME, PENTTINEN TYPE, LEUKODYSTROPHY, HYPOMYELINATING, 9, LATERAL MENINGOCELE SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 97, ?FIBROMATOSIS, GINGIVAL, 1, CORNEAL DYSTROPHY, AVELLINO TYPE, MYHRE SYNDROME, DYSTONIA-PARKINSONISM, X-LINKED, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, PAGET DISEASE OF BONE 3, MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, ADULT SYNDROME, BLUE CONE MONOCHROMACY, CROUZON SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, TIETZ ALBINISM-DEAFNESS SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SORSBY FUNDUS DYSTROPHY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, LEOPARD SYNDROME 1, BOTHNIA RETINAL DYSTROPHY, LOEYS-DIETZ SYNDROME 1, ?MYOPATHY, SCAPULOHUMEROPERONEAL, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, IMMUNODEFICIENCY, COMMON VARIABLE, 3, AGAMMAGLOBULINEMIA AND ISOLATED HORMONE DEFICIENCY, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, SMITH-KINGSMORE SYNDROME, PROTEUS SYNDROME, SOMATIC

APOE, MITF, WNT5A, MPDZ, SALL1, OPN1LW, SQSTM1, IKBKG, PIK3CA, TAP1, AGT, TP63, GFAP, RLBP1, CDK5, SOX2, RHO, CDH1, UBE2A, BTK, UBB, WNT10A, FGF3, LRAT, CDT1, TGFBI, BMP4, POR, SNAI2, PDGFRB, CREBBP, IKBKAP, RBPJ, DLL4, ACTA1, WNT7A, GRIP1, KRAS, ERBB3, JAG1, CD3D, SP7, PSMB8, NOTCH1, THRA, BUB1B, MTOR, FGFR1, CD3E, LEP, CEP63, PIK3CD, FZD4, CBL, SMARCE1, CCND1, MET, IGHM, VPS33B, TGFBR1, ITPR1, TAF1, TNFRSF1A, ZBTB16, RBP4, FGF23, PCNA, RPS6KA3, STAT3, INS, LRP6, SOS2, TTR, EEF1A2, GJA1, SHOC2, CTNNB1, EP300, SMAD4, PAX2, INSR, RAPSN, STAT1, HDAC6, LRP5, PITX2, SOX9, PPP2R1A, GRIN2B, FGF20, PLK4, AKT1, CCND2, KL, TSC2, VCP, PARK2, TP53, EGFR, AKT2, EZH2, SKI, CNGB1, EDN1, SNCA, FGF17, CDKN1C, NOTCH3, HSPA9, TUBB3, PTEN, FGFR3, AMER1, RUNX2, RB1, NRAS, FLNA, NGF, HDAC8, PPP2R5D, PAX3, PIK3R2, TGFB1, WNT3, PTPN11, GATA4, MYH9, FGF10, RARS, FGF5, KITLG, CD19, AKT3, PDGFB, SOS1, FGFR2, IL6, ABCA4, PDGFRA, RDH5, BDNF, ADAM17, APC, HRAS, LRP2, STRA6, TIMP3, SMAD3, HSPG2, TGFBR2, PIK3R1, RDH12, PORCN, SPTLC1, SHH

POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC, BARAITSER-WINTER SYNDROME 1, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, ?PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 2B, DEAFNESS, AUTOSOMAL DOMINANT 20/26, BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA, OCULODENTODIGITAL DYSPLASIA, LETHAL CONGENITAL CONTRACTURE SYNDROME 5, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, DEAFNESS, DIGENIC GJB2/GJB6, DEAFNESS, AUTOSOMAL RECESSIVE 1A, DEAFNESS, DIGENIC, GJB2/GJB3, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DEAFNESS, AUTOSOMAL DOMINANT 3B, ?DYSTONIA, JUVENILE-ONSET, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, DEAFNESS, AUTOSOMAL RECESSIVE 1B, DEAFNESS, AUTOSOMAL DOMINANT 22, DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, BARAITSER-WINTER SYNDROME 2, DEAFNESS, AUTOSOMAL RECESSIVE 37, MYOTUBULAR MYOPATHY, X-LINKED, KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, LEUKODYSTROPHY, HYPOMYELINATING, 6, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MYOPATHY, CENTRONUCLEAR, {CENTRONUCLEAR MYOPATHY, AUTOSOMAL, MODIFIER OF}, KERATODERMA, PALMOPLANTAR, WITH DEAFNESS, DEJERINE-SOTTAS DISEASE, ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE, HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS, LEUKODYSTROPHY, HYPOMYELINATING, 2, CATARACT 14, MULTIPLE TYPES, XERODERMA PIGMENTOSUM, GROUP B, CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 1, SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE, VOHWINKEL SYNDROME, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 1, TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE, CATARACT 1, MULTIPLE TYPES, LISSENCEPHALY 3

DNM1, GJB6, GJA1, GJA3, TUBA1A, ACTG1, ACTB, GATA4, ERCC3, CAV1, TUBB3, TUBB2B, MYO6, GJA8, GJB2, DNM2, GJB1, EGFR, OCLN, GJB3, TUBB4A, GJC2

BARAITSER-WINTER SYNDROME 1, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, IMMUNODEFICIENCY 15, CORNEAL DYSTROPHY, LATTICE TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA WITH COLOBOMA 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?BLEEDING DISORDER, PLATELET-TYPE, 19, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, AURICULOCONDYLAR SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MYOPATHY, DISTAL, TATEYAMA TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TRICHOMEGALY, PSEUDOHYPOPARATHYROIDISM IA, ?RENAL HYPODYSPLASIA/APLASIA 2, {NEUROBLASTOMA, SUSCEPTIBILITY TO, 1}, NEUROBLASTOMA, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, LEUKODYSTROPHY, HYPOMYELINATING, 11, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ?FIBROMATOSIS, GINGIVAL, 1, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HYPOCHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, CATSHL SYNDROME, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, FRANK-TER HAAR SYNDROME, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, IMMUNODEFICIENCY 19, BLEEDING DISORDER, PLATELET-TYPE, 15, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, TUBEROUS SCLEROSIS 2, HYPOPHOSPHATEMIC RICKETS, AR, GLANZMANN THROMBASTHENIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 89, SCHOPF-SCHULZ-PASSARGE SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, PAPILLORENAL SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HARTSFIELD SYNDROME, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, RENAL TUBULAR DYSGENESIS, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, RETINITIS PIGMENTOSA 13, MYOPIA 23, AUTOSOMAL RECESSIVE, ALAGILLE SYNDROME, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYHRE SYNDROME, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, TANGIER DISEASE, SPONDYLOCOSTAL DYSOSTOSIS 5, WAARDENBURG SYNDROME, TYPE 1, ODONTOONYCHODERMAL DYSPLASIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BARAITSER-WINTER SYNDROME 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, SMITH-KINGSMORE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, NEUROFIBROMATOSIS, TYPE 1, TREACHER COLLINS SYNDROME 3, CORNEAL DYSTROPHY, AVELLINO TYPE, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, SHORT SYNDROME, PAGET DISEASE OF BONE 3, NOONAN SYNDROME 7, MICROPHTHALMIA, SYNDROMIC 6, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CROUZON SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, SORSBY FUNDUS DYSTROPHY, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROFIBROMATOSIS, TYPE 2, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MASA SYNDROME, CRASH SYNDROME, ALEXANDER DISEASE, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LADD SYNDROME, LEOPARD SYNDROME 1, BENT BONE DYSPLASIA SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, IMMUNODEFICIENCY, COMMON VARIABLE, 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, EZH2, F2, FGFR1, CD3D, PRPF8, PRKACA, ACTB, GNAS, ACTN1, RPL5, AGT, GFAP, ATP1A2, OTX2, PRKAR1A, CDH1, UBE2A, IL17RD, HNRNPK, UBB, AKT2, CDKN2A, FGF3, CLASP1, SPTAN1, PIK3CA, TGFBI, BMP4, DUSP6, JAG1, PDGFRB, ADCY6, PRKACG, IL2RG, DYNC2H1, SF3B4, NF1, ACTA1, ACE, NF2, KRAS, ERBB3, MAP2K2, FIBP, NME1, PSMB8, IGF2, SQSTM1, NOTCH1, MTOR, ADCY1, CD3E, LEP, PIK3CD, CBL, SMARCE1, CCND1, SPRED1, CD40LG, ITPR1, GDNF, WNT10A, RB1, FGF23, BDNF, RPS6KA3, FGF5, ADCY5, BRAF, INS, NFKB2, SOS2, CAV3, EDN1, ADAM17, ITGB3, GJA1, SHOC2, EP300, SMAD4, VWF, SYNGAP1, PAX2, INSR, HLA-DRB1, DMD, PPP2R1A, GRIN2B, HES7, FGF20, PLK4, ITGB2, AKT1, CCND2, PLEC, ITPR2, VCP, RUNX1, TP53, UBE3A, EPS8, NEFL, SLC25A4, IKBKB, PPP2R5D, LRPAP1, ITGA2B, SNCA, FGF17, PRKCG, EFNB1, PTEN, FGFR3, MUSK, APOA1, RUNX2, NRAS, DLG3, NGF, PTS, PAX3, ACTG1, PIK3R2, NTRK1, PTPN11, TNFAIP3, DDX58, FGF10, TGFB1, SPRY4, STAT3, KITLG, PCNA, CD19, AKT3, PDGFB, SOS1, KARS, FGFR2, PDGFRA, L1CAM, LAMTOR2, POLR1C, SPTBN2, HRAS, EGFR, TIMP3, SH3PXD2B, HSPG2, TSC1, PIK3R1, KL, DMP1, SHH

STURGE-WEBER SYNDROME, SOMATIC, MOSAIC, ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, BASAL CELL NEVUS SYNDROME, ?TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE, OSTEOGENESIS IMPERFECTA, TYPE I, CULLER-JONES SYNDROME, PSEUDOHYPOPARATHYROIDISM IC, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE, OSTEOGENESIS IMPERFECTA, TYPE IV, TOOTH AGENESIS, SELECTIVE, X-LINKED 1, OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, OTOPALATODIGITAL SYNDROME, TYPE II, HOLOPROSENCEPHALY-9, OSTEOPETROSIS, AUTOSOMAL DOMINANT 1, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, OSTEOGENESIS IMPERFECTA, TYPE II, PAPILLORENAL SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, BRACHYDACTYLY, TYPE E2, OTOPALATODIGITAL SYNDROME, TYPE I, TOOTH AGENESIS, SELECTIVE, 4, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CATARACT 21, MULTIPLE TYPES, CHONDRODYSPLASIA, BLOMSTRAND TYPE, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ?TETRA-AMELIA SYNDROME, BANNAYAN-RILEY-RUVALCABA SYNDROME, FOVEAL HYPOPLASIA 1, FRONTOMETAPHYSEAL DYSPLASIA, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED, MELNICK-NEEDLES SYNDROME, MICROPHTHALMIA, SYNDROMIC 5, RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION, MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME, ODONTOONYCHODERMAL DYSPLASIA, RETINITIS PIGMENTOSA 4, AUTOSOMAL DOMINANT OR RECESSIVE, CLOVE SYNDROME, SOMATIC, EXUDATIVE VITREORETINOPATHY 1, HYPOBETALIPOPROTEINEMIA, MULLERIAN APLASIA AND HYPERANDROGENISM, GILLESPIE SYNDROME, TOOTH AGENESIS, SELECTIVE, 7, {HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LDLR DEFECT, MODIFIER OF}, HYPERCHOLESTEROLEMIA, FAMILIAL, LDL CHOLESTEROL LEVEL QTL2, {HYPERCHOLESTEROLEMIA, FAMILIAL, MODIFIER OF}, {HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO}, {CORONARY ARTERY DISEASE IN FAMILIAL HYPERCHOLESTEROLEMIA, PROTECTION AGAINST}, FAILURE OF TOOTH ERUPTION, PRIMARY, MACROCEPHALY/AUTISM SYNDROME, INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CONGENITAL SHORT BOWEL SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE XV, STOMATIN-DEFICIENT CRYOHYDROCYTOSIS WITH NEUROLOGIC DEFECTS, MICROPHTHALMIA, SYNDROMIC 6, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, PALLISTER-HALL SYNDROME, SHORT STATURE, AUDITORY CANAL ATRESIA, MANDIBULAR HYPOPLASIA, SKELETAL ABNORMALITIES, EXUDATIVE VITREORETINOPATHY 4, DYSTONIA 9, OSTEOSCLEROSIS, HYPEROSTOSIS, ENDOSTEAL, FOCAL DERMAL HYPOPLASIA, AYME-GRIPP SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOHYPOPARATHYROIDISM IA, GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, VIBRATORY URTICARIA, RETINITIS PUNCTATA ALBESCENS, FUNDUS ALBIPUNCTATUS, PSEUDOPSEUDOHYPOPARATHYROIDISM, ?ANIRIDIA, ANIRIDIA, CATARACT WITH LATE-ONSET CORNEAL DYSTROPHY, HOLOPROSENCEPHALY-7, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {HYPOTHALAMIC HAMARTOMAS, SOMATIC}, METAPHYSEAL CHONDRODYSPLASIA, MURK JANSEN TYPE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, GLUT1 DEFICIENCY SYNDROME 1, INFANTILE ONSET, SEVERE, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACROCAPITOFEMORAL DYSPLASIA, ROBINOW SYNDROME, SCHOPF-SCHULZ-PASSARGE SYNDROME, SERKAL SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, PROTEUS SYNDROME, SOMATIC

PTCH1, WNT7A, FLNA, LRP6, APOB, RUNX1, COL1A1, PTEN, DVL3, WNT3, AKT1, GLI3, PAX2, PTH1R, LRP5, GDNF, EDA, OTX2, PTHLH, BMP4, WNT10A, FZD4, CCND2, GNAQ, CCND1, WNT5A, SLC2A1, PTCH2, EGFR, WNT1, GATA4, GNAS, PAX6, IHH, PIK3CA, CDH1, ROR2, IL1B, WNT4, RUNX2, GSC, MAF, RHO, MAFB, ADGRE2, PORCN, GLI2, SHH

BARAITSER-WINTER SYNDROME 1, IMMUNODEFICIENCY 15, CORNEAL DYSTROPHY, LATTICE TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA WITH COLOBOMA 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, AURICULOCONDYLAR SYNDROME 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, TRIGONOCEPHALY 1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HYPOCHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, PARKINSON DISEASE 1, CATSHL SYNDROME, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, SHORT SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, MICROPHTHALMIA, SYNDROMIC 6, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, WAARDENBURG SYNDROME, TYPE 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, MENTAL RETARDATION, X-LINKED 19, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HARTSFIELD SYNDROME, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, COMMON VARIABLE IMMUNODEFICIENCY 1, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, RETINITIS PIGMENTOSA 13, MYOPIA 23, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MUENKE SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, WAARDENBURG SYNDROME, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BARAITSER-WINTER SYNDROME 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 89, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, ?FIBROMATOSIS, GINGIVAL, 1, CORNEAL DYSTROPHY, AVELLINO TYPE, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME 7, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MASA SYNDROME, CRASH SYNDROME, ALEXANDER DISEASE, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LADD SYNDROME, LEOPARD SYNDROME 1, BENT BONE DYSPLASIA SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

EZH2, F2, PRPF8, ACTB, ACTN1, AGT, GFAP, ATP1A2, EDN1, UBE2A, IL17RD, UBB, CDKN2A, FGF3, SPTAN1, PIK3CA, TGFBI, BMP4, PDGFRB, IL2RG, SF3B4, MUSK, ACTA1, ACE, PLEC, ERBB3, MAP2K2, PSMB8, IGF2, NOTCH1, FGFR1, LEP, FGF17, CBL, SMARCE1, CCND1, SPRED1, ITPR1, FGF23, BDNF, RPS6KA3, STAT3, DUSP6, BRAF, INS, DMD, SOS2, ITGB3, GJA1, SHOC2, SMAD4, VWF, SYNGAP1, PAX2, HLA-DRB1, NFKB2, PPP2R1A, HES7, FGF20, PLK4, AKT1, CCND2, KRAS, VCP, RUNX1, KARS, EPS8, NEFL, IKBKB, HNRNPK, LRPAP1, ITGA2B, SNCA, EFNB1, NF1, FGFR3, RUNX2, NRAS, NGF, PPP2R5D, PAX3, ACTG1, NTRK1, PTPN11, TNFAIP3, FGF10, TGFB1, SPRY4, FGF5, KITLG, PCNA, PDGFB, SOS1, TP53, FGFR2, PDGFRA, L1CAM, LAMTOR2, GRIN2B, SPTBN2, HRAS, EGFR, HSPG2, CDH1, PIK3R1, KL, SHH

ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY, CORNEAL DYSTROPHY, LATTICE TYPE I, CAMURATI-ENGELMANN DISEASE, HYPER-IGE RECURRENT INFECTION SYNDROME, STAPES ANKYLOSIS WITH BROAD THUMB AND TOES, ?STICKLER SYNDROME, TYPE V, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, WEISSENBACHER-ZWEYMULLER SYNDROME, SHORT SYNDROME, MICROPHTHALMIA WITH COLOBOMA 5, CORNEAL DYSTROPHY, AVELLINO TYPE, CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 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, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, ?OSTEOGENESIS IMPERFECTA, TYPE X, AMELOGENESIS IMPERFECTA, TYPE IIA2, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE, STICKLER SYNDROME, TYPE I, MYASTHENIC SYNDROME, CONGENITAL, 19, WAARDENBURG SYNDROME, TYPE 2D, PORENCEPHALY 1, MULTIPLE SYNOSTOSES SYNDROME 1, ?RETINAL ARTERIES, TORTUOSITY OF, OSTEOGENESIS IMPERFECTA, TYPE VIII, CORNEAL DYSTROPHY, CONGENITAL STROMAL, NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION, MACULAR DEGENERATION, AGE-RELATED, 3, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, ?STEEL SYNDROME, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS, {EXFOLIATION SYNDROME, SUSCEPTIBILITY TO}, OSTEOGENESIS IMPERFECTA, TYPE IV, ALPORT SYNDROME, AUTOSOMAL DOMINANT, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, PLATYSPONDYLIC SKELETAL DYSPLASIA, TORRANCE TYPE, DYSTONIA 27, ACAMPOMELIC CAMPOMELIC DYSPLASIA, CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL, CAMPOMELIC DYSPLASIA, ALPORT SYNDROME, AUTOSOMAL RECESSIVE, AMELOGENESIS IMPERFECTA, TYPE IA, ACHONDROGENESIS, TYPE II OR HYPOCHONDROGENESIS, LOEYS-DIETZ SYNDROME 3, WAARDENBURG SYNDROME, TYPE 2E, WITH OR WITHOUT NEUROLOGIC INVOLVEMENT, EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND DEAFNESS, MICROPHTHALMIA, SYNDROMIC 6, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, TARSAL-CARPAL COALITION SYNDROME, BETHLEM MYOPATHY 1, STICKLER SYNDROME, TYPE II, ROBINOW SYNDROME, SYMPHALANGISM, PROXIMAL, 1A, WAARDENBURG SYNDROME, TYPE 4C, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, EPIDERMOLYSIS BULLOSA DYSTROPHICA, AR, EBD INVERSA, {EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, MODIFIER OF}, LYSYL HYDROXYLASE 3 DEFICIENCY, OSTEOGENESIS IMPERFECTA, TYPE I, COLE-CARPENTER SYNDROME 1, DEAFNESS, AUTOSOMAL DOMINANT 56, ?DEAFNESS, X-LINKED 6, KNOBLOCH SYNDROME 1, OSTEOGENESIS IMPERFECTA, TYPE IX, OSTEOGENESIS IMPERFECTA, TYPE II, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, ?MYOSCLEROSIS, CONGENITAL, SED CONGENITA, KNIEST DYSPLASIA, CLOVE SYNDROME, SOMATIC, SPONDYLOPERIPHERAL DYSPLASIA, EHLERS-DANLOS SYNDROME, TYPE VIIC, DEAFNESS, AUTOSOMAL RECESSIVE 53, OSTEOGENESIS IMPERFECTA, TYPE XIII, ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, OSTEOGENESIS IMPERFECTA, TYPE VII, STICKLER SYDROME, TYPE I, NONSYNDROMIC OCULAR, PCWH SYNDROME, COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4, EHLERS-DANLOS SYNDROME, TYPE IV, SPINOCEREBELLAR ATAXIA 17, FIBROCHONDROGENESIS 1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, ALPORT SYNDROME, CHOROID PLEXUS PAPILLOMA, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE, FIBROCHONDROGENESIS 2, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE CUTIS LAXA TYPE IA, EPITHELIAL RECURRENT EROSION DYSTROPHY, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2, SMED STRUDWICK TYPE, OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE, EHLERS-DANLOS SYNDROME, TYPE VI, CUTIS LAXA, AD, FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5, MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, STICKLER SYNDROME, TYPE III, AGAMMAGLOBULINEMIA 3, DEAFNESS, AUTOSOMAL DOMINANT 13, BRAIN SMALL VESSEL DISEASE WITH OR WITHOUT OCULAR ANOMALIES, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI, PROTEUS SYNDROME, SOMATIC, MARSHALL SYNDROME

COL4A6, TUFM, SOX9, COL18A1, PLEC, SHH, NGF, TP53, WNT7A, COL25A1, SERPINH1, TGFBI, COL8A2, COL5A2, ITGB4, TNC, P4HB, CD79A, COL3A1, COL17A1, CCND1, TBP, DVL1, LAMC2, COL6A1, COL11A1, TGFB1, LAMB3, PLOD3, P3H1, COL5A1, COL1A1, COL9A2, COL6A3, MMP20, DDR2, FBLN5, SOX10, PLOD1, WNT5A, COL4A4, ITGA6, COL4A3, CRTAP, NOG, DST, PPIB, LRP2, DCN, COL4A1, ELN, COL27A1, IL6, BMP1, PIK3CA, LOXL1, AKT1, COL6A2, BMP4, ADAMTS2, COL1A2, IL1B, SNAI2, COL13A1, SMAD3, P3H2, LAMA3, STAT3, COL7A1, COL2A1, INS, RUNX2, COL4A5, COL11A2, PIK3R1

BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, THANATOPHORIC DYSPLASIA, TYPE II, ?FIBROMATOSIS, GINGIVAL, 1, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HARTSFIELD SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, ACHONDROPLASIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, BENT BONE DYSPLASIA SYNDROME, OCULOECTODERMAL SYNDROME, THANATOPHORIC DYSPLASIA, TYPE I, HYPOCHONDROPLASIA, CROUZON SYNDROME, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?OSTEOGENESIS IMPERFECTA, TYPE XII, IMMUNODEFICIENCY 14, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, MYHRE SYNDROME, PROTEUS SYNDROME, SOMATIC, CLOVE SYNDROME, SOMATIC, SHORT SYNDROME, OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM, MICROPHTHALMIA, SYNDROMIC 3, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CATSHL SYNDROME, MUENKE SYNDROME, JACKSON-WEISS SYNDROME, LADD SYNDROME, HYPER-IGE RECURRENT INFECTION SYNDROME, WAARDENBURG SYNDROME, TYPE 1, APERT SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, WAARDENBURG SYNDROME, TYPE 3, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, APLASIA OF LACRIMAL AND SALIVARY GLANDS, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, TRIGONOCEPHALY 1, SADDAN, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, NOONAN SYNDROME 4

NRAS, FGF23, NGF, PAX3, SP7, STAT1, FGF10, FGFR1, STAT3, PPP2R1A, LEP, FGF20, PIK3CD, CDH1, SOX2, SOS1, FGFR2, PLK4, IL6, FGF3, PIK3CA, AKT1, HRAS, FGF17, KRAS, FGFR3, SMAD4, FGF5, PIK3R1

BARAITSER-WINTER SYNDROME 1, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, IMMUNODEFICIENCY 15, CORNEAL DYSTROPHY, LATTICE TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA WITH COLOBOMA 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?BLEEDING DISORDER, PLATELET-TYPE, 19, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, AURICULOCONDYLAR SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TRICHOMEGALY, PSEUDOHYPOPARATHYROIDISM IA, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, LEUKODYSTROPHY, HYPOMYELINATING, 11, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, ?FIBROMATOSIS, GINGIVAL, 1, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HYPOCHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, CATSHL SYNDROME, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, IMMUNODEFICIENCY 19, BLEEDING DISORDER, PLATELET-TYPE, 15, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, TUBEROUS SCLEROSIS 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, GLANZMANN THROMBASTHENIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 89, SCHOPF-SCHULZ-PASSARGE SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HARTSFIELD SYNDROME, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, RETINITIS PIGMENTOSA 13, MYOPIA 23, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYHRE SYNDROME, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, TANGIER DISEASE, SPONDYLOCOSTAL DYSOSTOSIS 5, WAARDENBURG SYNDROME, TYPE 1, ODONTOONYCHODERMAL DYSPLASIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SINGLETON-MERTEN SYNDROME 2, BARAITSER-WINTER SYNDROME 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, MYOPATHY, DISTAL, TATEYAMA TYPE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, SMITH-KINGSMORE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, NEUROFIBROMATOSIS, TYPE 1, TREACHER COLLINS SYNDROME 3, CORNEAL DYSTROPHY, AVELLINO TYPE, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, SHORT SYNDROME, PAGET DISEASE OF BONE 3, NOONAN SYNDROME 7, MICROPHTHALMIA, SYNDROMIC 6, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CROUZON SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROFIBROMATOSIS, TYPE 2, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MASA SYNDROME, CRASH SYNDROME, ALEXANDER DISEASE, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LADD SYNDROME, LEOPARD SYNDROME 1, BENT BONE DYSPLASIA SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, IMMUNODEFICIENCY, COMMON VARIABLE, 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, EZH2, F2, FGFR1, CD3D, PRPF8, PRKACA, ACTB, GNAS, ACTN1, RPL5, AGT, GFAP, ATP1A2, PRKAR1A, ITGA2B, UBE2A, IL17RD, HNRNPK, UBB, AKT2, CDKN2A, FGF3, CLASP1, SPTAN1, PIK3CA, TGFBI, BMP4, DUSP6, PDGFRB, ADCY6, PRKACG, IL2RG, DYNC2H1, SF3B4, NF1, ACTA1, ACE, NF2, KRAS, ERBB3, MAP2K2, FIBP, PSMB8, IGF2, SQSTM1, NOTCH1, MTOR, ADCY1, CD3E, LEP, PIK3CD, CBL, SMARCE1, CCND1, SPRED1, CD40LG, ITPR1, WNT10A, RB1, FGF23, LAMTOR2, RPS6KA3, FGF5, ADCY5, BRAF, INS, NFKB2, SOS2, CAV3, EDN1, GRIN2B, ITGB3, GJA1, SHOC2, EP300, SMAD4, VWF, SYNGAP1, PAX2, INSR, HLA-DRB1, DMD, PPP2R1A, HES7, FGF20, PLK4, ITGB2, AKT1, CCND2, PLEC, ITPR2, DDX58, RUNX1, TP53, UBE3A, EPS8, NEFL, SLC25A4, IKBKB, PPP2R5D, LRPAP1, CDH1, SNCA, FGF17, PRKCG, EFNB1, PTEN, FGFR3, MUSK, APOA1, RUNX2, NRAS, DLG3, NGF, PTS, PAX3, ACTG1, PIK3R2, NTRK1, PTPN11, TNFAIP3, VCP, FGF10, TGFB1, SPRY4, STAT3, KITLG, PCNA, CD19, AKT3, PDGFB, SOS1, KARS, FGFR2, IL6, PDGFRA, L1CAM, BDNF, POLR1C, SPTBN2, HRAS, EGFR, HSPG2, TSC1, PIK3R1, KL, SHH

BARAITSER-WINTER SYNDROME 1, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, IMMUNODEFICIENCY 15, CORNEAL DYSTROPHY, LATTICE TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, ACHONDROPLASIA, ?FIBROMATOSIS, GINGIVAL, 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA WITH COLOBOMA 5, ?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, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, ?BLEEDING DISORDER, PLATELET-TYPE, 19, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, AURICULOCONDYLAR SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TRICHOMEGALY, PSEUDOHYPOPARATHYROIDISM IA, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, LEUKODYSTROPHY, HYPOMYELINATING, 11, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HYPOCHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, CATSHL SYNDROME, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, IMMUNODEFICIENCY 19, BLEEDING DISORDER, PLATELET-TYPE, 15, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, TUBEROUS SCLEROSIS 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, GLANZMANN THROMBASTHENIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 89, SCHOPF-SCHULZ-PASSARGE SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, DUCHENNE MUSCULAR DYSTROPHY, HARTSFIELD SYNDROME, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, BANNAYAN-RILEY-RUVALCABA SYNDROME, ?DYSTONIA, JUVENILE-ONSET, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, RETINITIS PIGMENTOSA 13, MYOPIA 23, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, CLOVE SYNDROME, SOMATIC, COFFIN-SIRIS SYNDROME 1, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MYHRE SYNDROME, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, TANGIER DISEASE, SPONDYLOCOSTAL DYSOSTOSIS 5, WAARDENBURG SYNDROME, TYPE 1, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ODONTOONYCHODERMAL DYSPLASIA, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, SINGLETON-MERTEN SYNDROME 2, BARAITSER-WINTER SYNDROME 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, LOCALISATA VARIANT, EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE, EPIDERMOLYSIS BULLOSA, GENERALIZED ATROPHIC BENIGN, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, MYOPATHY, DISTAL, TATEYAMA TYPE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, SMITH-KINGSMORE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, NEUROFIBROMATOSIS, TYPE 1, TREACHER COLLINS SYNDROME 3, CORNEAL DYSTROPHY, AVELLINO TYPE, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, SHORT SYNDROME, PAGET DISEASE OF BONE 3, NOONAN SYNDROME 7, MICROPHTHALMIA, SYNDROMIC 6, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CROUZON SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROFIBROMATOSIS, TYPE 2, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MASA SYNDROME, CRASH SYNDROME, ALEXANDER DISEASE, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LADD SYNDROME, LEOPARD SYNDROME 1, BENT BONE DYSPLASIA SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, IMMUNODEFICIENCY, COMMON VARIABLE, 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, EZH2, F2, FGFR1, CD3D, PRPF8, PRKACA, ACTB, GNAS, ACTN1, RPL5, AGT, GFAP, ATP1A2, PRKAR1A, CDH1, UBE2A, IL17RD, HNRNPK, UBB, AKT2, CDKN2A, FGF3, NF1, CLASP1, SPTAN1, PIK3CA, TGFBI, BMP4, DUSP6, PDGFRB, ADCY6, PRKACG, IL2RG, DYNC2H1, SF3B4, MUSK, ACTA1, ACE, NF2, PPP2R5D, KRAS, ERBB3, MAP2K2, FIBP, PSMB8, IGF2, SQSTM1, NOTCH1, MTOR, ADCY1, CD3E, LEP, PIK3CD, CBL, SMARCE1, CCND1, SPRED1, CD40LG, ITPR1, WNT10A, RB1, FGF23, BDNF, RPS6KA3, FGF5, ADCY5, BRAF, INS, NFKB2, SOS2, CAV3, EDN1, ITGB4, ITGB3, GJA1, SHOC2, EP300, SMAD4, VWF, SYNGAP1, PAX2, INSR, HLA-DRB1, DMD, VHL, PPP2R1A, GRIN2B, HES7, FGF20, PLK4, ITGB2, AKT1, CCND2, PLEC, ITPR2, DDX58, RUNX1, TP53, UBE3A, EPS8, NEFL, SLC25A4, IKBKB, PTS, LRPAP1, ITGA2B, SNCA, FGF17, PRKCG, EFNB1, PTEN, FGFR3, APOA1, RUNX2, NRAS, DLG3, NGF, STUB1, PAX3, ACTG1, PIK3R2, NTRK1, PTPN11, TNFAIP3, VCP, FGF10, TGFB1, SPRY4, STAT3, KITLG, PCNA, CD19, AKT3, PDGFB, SOS1, KARS, FGFR2, IL6, PDGFRA, L1CAM, LAMTOR2, POLR1C, SPTBN2, HRAS, EGFR, HSPG2, TSC1, PIK3R1, KL, SHH

BARAITSER-WINTER SYNDROME 1, IMMUNODEFICIENCY 15, CORNEAL DYSTROPHY, LATTICE TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ACHONDROPLASIA, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA WITH COLOBOMA 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, AURICULOCONDYLAR SYNDROME 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, TRIGONOCEPHALY 1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HYPOCHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, PARKINSON DISEASE 1, CATSHL SYNDROME, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, SHORT SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, MICROPHTHALMIA, SYNDROMIC 6, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 89, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HARTSFIELD SYNDROME, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMMON VARIABLE IMMUNODEFICIENCY 1, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, ?DYSTONIA, JUVENILE-ONSET, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, RETINITIS PIGMENTOSA 13, MYOPIA 23, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MUENKE SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, WAARDENBURG SYNDROME, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BARAITSER-WINTER SYNDROME 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, SINGLETON-MERTEN SYNDROME 2, KOSAKI OVERGROWTH SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, ?FIBROMATOSIS, GINGIVAL, 1, CORNEAL DYSTROPHY, AVELLINO TYPE, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME 7, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, LADD SYNDROME, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MASA SYNDROME, CRASH SYNDROME, ALEXANDER DISEASE, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LEOPARD SYNDROME 1, BENT BONE DYSPLASIA SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

EZH2, F2, PRPF8, ACTB, ACTN1, AGT, GFAP, ATP1A2, ITGA2B, UBE2A, IL17RD, UBB, CDKN2A, FGF3, SPTAN1, PIK3CA, TGFBI, BMP4, PDGFRB, IL2RG, SF3B4, MUSK, ACTA1, ACE, PLEC, ERBB3, MAP2K2, PSMB8, IGF2, NOTCH1, FGFR1, LEP, FGF17, CBL, SMARCE1, CCND1, SPRED1, ITPR1, FGF23, BDNF, RPS6KA3, STAT3, DUSP6, BRAF, INS, DMD, SOS2, ITGB3, GJA1, SHOC2, SMAD4, VWF, SYNGAP1, PAX2, HLA-DRB1, NFKB2, PPP2R1A, HES7, FGF20, PLK4, AKT1, CCND2, KRAS, ITPR2, VCP, RUNX1, KARS, EPS8, NEFL, IKBKB, HNRNPK, LRPAP1, EDN1, SNCA, EFNB1, NF1, FGFR3, RUNX2, NRAS, DLG3, NGF, PPP2R5D, PAX3, ACTG1, NTRK1, PTPN11, TNFAIP3, DDX58, FGF10, TGFB1, SPRY4, FGF5, KITLG, PCNA, INSR, PDGFB, SOS1, TP53, FGFR2, IL6, PDGFRA, L1CAM, LAMTOR2, GRIN2B, SPTBN2, HRAS, EGFR, HSPG2, CDH1, PIK3R1, KL, SHH

HARTSFIELD SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, BEARE-STEVENSON CUTIS GYRATA SYNDROME, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, NOONAN SYNDROME 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ACHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, ?FIBROMATOSIS, GINGIVAL, 1, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 15, THANATOPHORIC DYSPLASIA, TYPE I, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, HYPOCHONDROPLASIA, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, QUESTION MARK EARS, ISOLATED, ?BLEEDING DISORDER, PLATELET-TYPE, 19, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPINOCEREBELLAR ATAXIA 14, CROUZON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, CATSHL SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, MUENKE SYNDROME, JACKSON-WEISS SYNDROME, APERT SYNDROME, TANGIER DISEASE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AURICULOCONDYLAR SYNDROME 3, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PSEUDOHYPOPARATHYROIDISM IA, TRIGONOCEPHALY 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, MYOPATHY, DISTAL, TATEYAMA TYPE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, TRICHOMEGALY, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LADD SYNDROME, ?RENAL HYPODYSPLASIA/APLASIA 2, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SADDAN, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC

CAV3, ADCY1, GJA1, APOA1, GNAS, IL6, FGF10, FGFR1, PRKACA, PRKAR1A, FGF20, FGF17, DUSP6, AKT1, ITPR2, SOS1, FGFR2, FGF23, FIBP, FGF3, BMP4, ITPR1, EDN1, HRAS, EGFR, PRKCG, FGFR3, ADCY6, HSPG2, FGF5, ADCY5, PRKACG

BEARE-STEVENSON CUTIS GYRATA SYNDROME, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, THANATOPHORIC DYSPLASIA, TYPE II, OSTEOGLOPHONIC DYSPLASIA, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, HARTSFIELD SYNDROME, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, NOONAN SYNDROME 4, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, ACHONDROPLASIA, OCULODENTODIGITAL DYSPLASIA, BENT BONE DYSPLASIA SYNDROME, HYPOCHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, SPINOCEREBELLAR ATAXIA 15, THANATOPHORIC DYSPLASIA, TYPE I, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, QUESTION MARK EARS, ISOLATED, ?BLEEDING DISORDER, PLATELET-TYPE, 19, ?FIBROMATOSIS, GINGIVAL, 1, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, CARNEY COMPLEX, TYPE 1, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPINOCEREBELLAR ATAXIA 14, CROUZON SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, CATSHL SYNDROME, MICROPHTHALMIA, SYNDROMIC 6, MUENKE SYNDROME, JACKSON-WEISS SYNDROME, LADD SYNDROME, APERT SYNDROME, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, AURICULOCONDYLAR SYNDROME 3, PSEUDOHYPOPARATHYROIDISM IA, TRIGONOCEPHALY 1, PSEUDOPSEUDOHYPOPARATHYROIDISM, MYOPATHY, DISTAL, TATEYAMA TYPE, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, TRICHOMEGALY, PSEUDOHYPOPARATHYROIDISM IC, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, ?MYOPATHY, SCAPULOHUMEROPERONEAL, ?RENAL HYPODYSPLASIA/APLASIA 2, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, SADDAN, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, PROTEUS SYNDROME, SOMATIC

ACTA1, CAV3, ADCY1, GJA1, GNAS, AKT1, FGFR1, PRKACA, PRKAR1A, FGF17, ADCY5, EDN1, ITPR2, FGFR2, FGF23, FIBP, BMP4, ITPR1, SOS1, FGF20, EGFR, PRKCG, FGFR3, ADCY6, FGF5, DUSP6, PRKACG

BARAITSER-WINTER SYNDROME 1, IMMUNODEFICIENCY 15, CORNEAL DYSTROPHY, LATTICE TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA WITH COLOBOMA 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, AURICULOCONDYLAR SYNDROME 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, TRIGONOCEPHALY 1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HYPOCHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, PARKINSON DISEASE 1, CATSHL SYNDROME, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, SHORT SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, MICROPHTHALMIA, SYNDROMIC 6, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, WAARDENBURG SYNDROME, TYPE 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, MENTAL RETARDATION, X-LINKED 19, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HARTSFIELD SYNDROME, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, COMMON VARIABLE IMMUNODEFICIENCY 1, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, RETINITIS PIGMENTOSA 13, MYOPIA 23, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MUENKE SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, WAARDENBURG SYNDROME, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BARAITSER-WINTER SYNDROME 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 89, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, ?FIBROMATOSIS, GINGIVAL, 1, CORNEAL DYSTROPHY, AVELLINO TYPE, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME 7, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MASA SYNDROME, CRASH SYNDROME, ALEXANDER DISEASE, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LADD SYNDROME, LEOPARD SYNDROME 1, BENT BONE DYSPLASIA SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

EZH2, F2, PRPF8, ACTB, ACTN1, AGT, GFAP, ATP1A2, EDN1, UBE2A, IL17RD, UBB, CDKN2A, FGF3, SPTAN1, PIK3CA, TGFBI, BMP4, PDGFRB, IL2RG, SF3B4, MUSK, ACTA1, ACE, PLEC, ERBB3, MAP2K2, PSMB8, IGF2, NOTCH1, FGFR1, LEP, FGF17, CBL, SMARCE1, CCND1, SPRED1, ITPR1, FGF23, BDNF, RPS6KA3, STAT3, DUSP6, BRAF, INS, DMD, SOS2, ITGB3, GJA1, SHOC2, SMAD4, VWF, SYNGAP1, PAX2, HLA-DRB1, NFKB2, PPP2R1A, HES7, FGF20, PLK4, AKT1, CCND2, KRAS, VCP, RUNX1, KARS, EPS8, NEFL, IKBKB, HNRNPK, LRPAP1, ITGA2B, SNCA, EFNB1, NF1, FGFR3, RUNX2, NRAS, NGF, PPP2R5D, PAX3, ACTG1, NTRK1, PTPN11, TNFAIP3, FGF10, TGFB1, SPRY4, FGF5, KITLG, PCNA, PDGFB, SOS1, TP53, FGFR2, PDGFRA, L1CAM, LAMTOR2, GRIN2B, SPTBN2, HRAS, EGFR, HSPG2, CDH1, PIK3R1, KL, SHH

BARAITSER-WINTER SYNDROME 1, IMMUNODEFICIENCY 15, CORNEAL DYSTROPHY, LATTICE TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, ACHONDROPLASIA, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA WITH COLOBOMA 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, AURICULOCONDYLAR SYNDROME 3, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, TRIGONOCEPHALY 1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TRICHOMEGALY, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, CORPUS CALLOSUM, PARTIAL AGENESIS OF, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, HYPOCHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, SPINOCEREBELLAR ATAXIA 15, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, PARKINSON DISEASE 1, CATSHL SYNDROME, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, SHORT SYNDROME, BLEEDING DISORDER, PLATELET-TYPE, 15, MICROPHTHALMIA, SYNDROMIC 6, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, WAARDENBURG SYNDROME, TYPE 3, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, NEUROFIBROMATOSIS, TYPE 1, LEGIUS SYNDROME, MENTAL RETARDATION, X-LINKED 19, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HARTSFIELD SYNDROME, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, COMMON VARIABLE IMMUNODEFICIENCY 1, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, RETINITIS PIGMENTOSA 13, MYOPIA 23, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, MUENKE SYNDROME, SPONDYLOCOSTAL DYSOSTOSIS 5, WAARDENBURG SYNDROME, TYPE 1, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BARAITSER-WINTER SYNDROME 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, DEAFNESS, AUTOSOMAL RECESSIVE 89, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, KOSAKI OVERGROWTH SYNDROME, VON WILLIBRAND DISEASE, TYPE 3, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, ?FIBROMATOSIS, GINGIVAL, 1, CORNEAL DYSTROPHY, AVELLINO TYPE, WATSON SYNDROME, GLANZMANN THROMBASTHENIA, NOONAN SYNDROME 7, CROUZON SYNDROME, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MASA SYNDROME, CRASH SYNDROME, ALEXANDER DISEASE, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LADD SYNDROME, LEOPARD SYNDROME 1, BENT BONE DYSPLASIA SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

EZH2, F2, PRPF8, ACTB, ACTN1, AGT, GFAP, ATP1A2, EDN1, UBE2A, IL17RD, UBB, CDKN2A, FGF3, SPTAN1, PIK3CA, TGFBI, BMP4, PDGFRB, IL2RG, SF3B4, MUSK, ACTA1, ACE, PLEC, ERBB3, MAP2K2, PSMB8, IGF2, NOTCH1, FGFR1, LEP, FGF17, CBL, SMARCE1, CCND1, SPRED1, ITPR1, FGF23, BDNF, RPS6KA3, STAT3, DUSP6, BRAF, INS, DMD, SOS2, ITGB3, GJA1, SHOC2, SMAD4, VWF, SYNGAP1, PAX2, HLA-DRB1, NFKB2, PPP2R1A, HES7, FGF20, PLK4, AKT1, CCND2, KRAS, VCP, RUNX1, KARS, EPS8, NEFL, IKBKB, HNRNPK, LRPAP1, ITGA2B, SNCA, EFNB1, NF1, FGFR3, RUNX2, NRAS, NGF, PPP2R5D, PAX3, ACTG1, NTRK1, PTPN11, TNFAIP3, FGF10, TGFB1, SPRY4, FGF5, KITLG, PCNA, PDGFB, SOS1, TP53, FGFR2, PDGFRA, L1CAM, LAMTOR2, GRIN2B, SPTBN2, HRAS, EGFR, HSPG2, CDH1, PIK3R1, KL, SHH

BARAITSER-WINTER SYNDROME 1, DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA, IMMUNODEFICIENCY 15, CORNEAL DYSTROPHY, LATTICE TYPE I, THANATOPHORIC DYSPLASIA, TYPE II, MENTAL RETARDATION, AUTOSOMAL DOMINANT 35, SPINOCEREBELLAR ATAXIA 5, HYPER-IGE RECURRENT INFECTION SYNDROME, ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS, NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA, IMMUNODEFICIENCY 31C, AUTOSOMAL DOMINANT, ACHONDROPLASIA, ?FIBROMATOSIS, GINGIVAL, 1, SINGLE MEDIAN MAXILLARY CENTRAL INCISOR, THANATOPHORIC DYSPLASIA, TYPE I, MICROPHTHALMIA WITH COLOBOMA 5, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, DIABETES MELLITUS, PERMANENT NEONATAL, DIABETES MELLITUS, PERMANENT NEONATAL, WITH NEUROLOGIC FEATURES, DIABETES, PERMANENT NEONATAL, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, WITH BRACHYDACTYLY, CLEIDOCRANIAL DYSPLASIA, CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE, DENTAL ANOMALIES ONLY, OBESITY, MORBID, DUE TO LEPTIN DEFICIENCY, ?BLEEDING DISORDER, PLATELET-TYPE, 19, HYPOGONADOTROPIC HYPOGONADISM 17 WITH OR WITHOUT ANOSMIA, MYHRE SYNDROME, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, MIGRAINE, FAMILIAL HEMIPLEGIC, 2, MIGRAINE, FAMILIAL BASILAR, MYOPATHY, ACTIN, CONGENITAL, WITH CORES, NEMALINE MYOPATHY 3, AUTOSOMAL DOMINANT OR RECESSIVE, MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS, SPINOCEREBELLAR ATAXIA 14, NEUROFIBROMATOSIS-NOONAN SYNDROME, CARDIOFACIOCUTANEOUS SYNDROME, CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS, HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA, CAMURATI-ENGELMANN DISEASE, LEOPARD SYNDROME 3, HYDROCEPHALUS WITH HIRSCHSPRUNG DISEASE, HYDROCEPHALUS WITH CONGENITAL IDIOPATHIC INTESTINAL PSEUDOOBSTRUCTION, HYDROCEPHALUS DUE TO AQUEDUCTAL STENOSIS, AURICULOCONDYLAR SYNDROME 3, OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE, MYOPATHY, DISTAL, TATEYAMA TYPE, MITOCHONDRIAL DNA DEPLETION SYNDROME 12 (CARDIOMYOPATHIC TYPE), EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 27, {GASTRIC CANCER RISK AFTER H. PYLORI INFECTION}, GASTRIC CANCER, FAMILIAL DIFFUSE, WITH OR WITHOUT CLEFT LIP AND/OR PALATE, GASTRIC CANCER, SOMATIC, PSEUDOHYPOPARATHYROIDISM IC, TRIGONOCEPHALY 1, APLASIA OF LACRIMAL AND SALIVARY GLANDS, PSEUDOPSEUDOHYPOPARATHYROIDISM, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TRICHOMEGALY, PSEUDOHYPOPARATHYROIDISM IA, ?RENAL HYPODYSPLASIA/APLASIA 2, NEUROFIBROMATOSIS, FAMILIAL SPINAL, SADDAN, COFFIN-LOWRY SYNDROME, ADAMS-OLIVER SYNDROME 5, IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN, LEUKODYSTROPHY, HYPOMYELINATING, 11, JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1, ?DEAFNESS, AUTOSOMAL RECESSIVE 44, CORPUS CALLOSUM, PARTIAL AGENESIS OF, MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, VON WILLEBRAND DISEASE, TYPE 1, OCULODENTODIGITAL DYSPLASIA, LEPRECHAUNISM, HYPOCHONDROPLASIA, CONGENITAL MYOPATHY WITH FIBER TYPE DISPROPORTION, THROMBOCYTOPENIA, X-LINKED, THROMBOCYTOPENIA, X-LINKED, INTERMITTENT, SPINOCEREBELLAR ATAXIA 15, COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES, LOEYS-DIETZ SYNDROME 3, MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME, TOOTH AGENESIS, SELECTIVE, 4, SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME, SOMATIC MOSAIC, CRANIOFRONTONASAL DYSPLASIA, DEAFNESS, CONGENITAL WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA, DIAMOND-BLACKFAN ANEMIA 6, PARKINSON DISEASE 1, CATSHL SYNDROME, NOONAN SYNDROME 9, HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA, RENAL TUBULAR DYSGENESIS, SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY, ANGELMAN SYNDROME, IMMUNODEFICIENCY 19, BLEEDING DISORDER, PLATELET-TYPE, 15, PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 2, ALTERNATING HEMIPLEGIA OF CHILDHOOD, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA, MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC, TUBEROUS SCLEROSIS 2, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, CENTRAL HYPOVENTILATION SYNDROME, CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, WITH OR WITHOUT HIRSCHSPRUNG DISEASE, HADDAD SYNDROME, GLANZMANN THROMBASTHENIA, ?DEAFNESS, AUTOSOMAL RECESSIVE 102, FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3, WAARDENBURG SYNDROME, TYPE 3, RABSON-MENDENHALL SYNDROME, JACKSON-WEISS SYNDROME, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, LEGIUS SYNDROME, DEAFNESS, AUTOSOMAL RECESSIVE 89, SCHOPF-SCHULZ-PASSARGE SYNDROME, NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V, PAPILLORENAL SYNDROME, RETINOBLASTOMA, TRILATERAL, RETINOBLASTOMA, BEARE-STEVENSON CUTIS GYRATA SYNDROME, HYPOGONADOTROPIC HYPOGONADISM 19 WITH OR WITHOUT ANOSMIA, WEAVER SYNDROME, OSTEOGLOPHONIC DYSPLASIA, HARTSFIELD SYNDROME, CLEFT PALATE, ISOLATED, NOONAN SYNDROME 4, OCULOECTODERMAL SYNDROME, CHARCOT-MARIE-TOOTH DISEASE TYPE 2E, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4, ?DYSTONIA, JUVENILE-ONSET, COMMON VARIABLE IMMUNODEFICIENCY 1, IMMUNODEFICIENCY 14, QUESTION MARK EARS, ISOLATED, DUCHENNE MUSCULAR DYSTROPHY, SPINOCEREBELLAR ATAXIA 1, BANNAYAN-RILEY-RUVALCABA SYNDROME, {PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO}, {PARKINSON DISEASE, SUSCEPTIBILITY TO}, COMBINED IMMUNODEFICIENCY, X-LINKED, MODERATE, RETINITIS PIGMENTOSA 13, MYOPIA 23, AUTOSOMAL RECESSIVE, MENTAL RETARDATION, X-LINKED SYNDROMIC, NASCIMENTO-TYPE, IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR, COFFIN-SIRIS SYNDROME 1, WISKOTT-ALDRICH SYNDROME, ?CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE, B, CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE, COWDEN SYNDROME 1, LHERMITTE-DUCLOS SYNDROME, MACROCEPHALY/AUTISM SYNDROME, MUENKE SYNDROME, TANGIER DISEASE, ACROMEGALY, SOMATIC, PITUITARY ADENOMA, GROWTH HORMONE-SECRETING, SPONDYLOCOSTAL DYSOSTOSIS 5, WAARDENBURG SYNDROME, TYPE 1, ODONTOONYCHODERMAL DYSPLASIA, DYSPROTHROMBINEMIA, HYPOPROTHROMBINEMIA, BARAITSER-WINTER SYNDROME 2, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, ACROFACIAL DYSOSTOSIS 1, NAGER TYPE, PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2, {SPITZ NEVUS OR NEVUS SPILUS, SOMATIC}, MELANOCYTIC NEVUS SYNDROME, CONGENITAL, SOMATIC, ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA, {SARCOIDOSIS, SUSCEPTIBILITY TO, 1}, TUBEROUS SCLEROSIS-1, INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1, MCCUNE-ALBRIGHT SYNDROME, SOMATIC, MOSAIC, ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE, SAETHRE-CHOTZEN SYNDROME, SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, JUVENILE MYELOMONOCYTIC LEUKEMIA NOONAN SYNDROME 1, MENTAL RETARDATION, X-LINKED 19, CHOROID PLEXUS PAPILLOMA, CLOVE SYNDROME, SOMATIC, MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY, CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA, PFEIFFER SYNDROME, ?ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS, DEAFNESS, AUTOSOMAL DOMINANT 20/26, FETAL AKINESIA DEFORMATION SEQUENCE, ?FETAL AKINESIA DEFORMATION SEQUENCE, KOSAKI OVERGROWTH SYNDROME, MELANOMA, MALIGNANT, SOMATIC, MALIGNANT MELANOMA, SOMATIC, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY, HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A, SINGLETON-MERTEN SYNDROME 2, ?ATAXIA-TELANGIECTASIA-LIKE DISORDER, VON WILLIBRAND DISEASE, TYPE 3, LEUKOCYTE ADHESION DEFICIENCY, SMITH-KINGSMORE SYNDROME, {VON HIPPEL-LINDAU SYNDROME, MODIFIER OF}, VON HIPPEL-LINDAU SYNDROME, PREMATURE AGING SYNDROME, PENTTINEN TYPE, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, NEUROFIBROMATOSIS, TYPE 1, TREACHER COLLINS SYNDROME 3, CORNEAL DYSTROPHY, AVELLINO TYPE, CARNEY COMPLEX, TYPE 1, WATSON SYNDROME, ?LETHAL CONGENITAL CONTRACTURE SYNDROME 8, SHORT SYNDROME, BARE LYMPHOCYTE SYNDROME, TYPE I, DUE TO TAP2 DEFICIENCY, BARE LYMPHOCYTE SYNDROME, TYPE I, PAGET DISEASE OF BONE 3, NOONAN SYNDROME 7, MICROPHTHALMIA, SYNDROMIC 6, ?GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES, CROUZON SYNDROME, IMMUNODEFICIENCY 18, SCID VARIANT, IMMUNODEFICIENCY 18, HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT, CORNEAL DYSTROPHY, LATTICE TYPE IIIA, INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS, {MULTIPLE SCLEROSIS, DISEASE PROGRESSION, MODIFIER OF}, {MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 1}, MENTAL RETARDATION, X-LINKED 90, MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3, SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED, HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY, RUBINSTEIN-TAYBI SYNDROME 2, LETHAL CONGENITAL CONTRACTURAL SYNDROME 2, APERT SYNDROME, ADENOMATOUS POLYPOSIS COLI, GARDNER SYNDROME, BRAIN TUMOR-POLYPOSIS SYNDROME 2, BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5, NEUROFIBROMATOSIS, TYPE 2, VON WILLEBRAND DISEASE, TYPES 2A, 2B, 2M, AND 2N, {CROHN DISEASE-ASSOCIATED GROWTH FAILURE}, {INFLAMMATORY BOWEL DISEASE 1}, PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY, MASA SYNDROME, CRASH SYNDROME, ALEXANDER DISEASE, DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC, AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE, LADD SYNDROME, LEOPARD SYNDROME 1, BENT BONE DYSPLASIA SYNDROME, ?MYOPATHY, SCAPULOHUMEROPERONEAL, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5, IMMUNODEFICIENCY, COMMON VARIABLE, 3, MENTAL RETARDATION, AUTOSOMAL DOMINANT 5, ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS, HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA, AU-KLINE SYNDROME, PROTEUS SYNDROME, SOMATIC

TSC2, EZH2, F2, FGFR1, CD3D, PRPF8, PRKACA, ACTB, GNAS, ACTN1, TAP1, AGT, GFAP, ATP1A2, PRKAR1A, CDH1, UBE2A, IL17RD, HNRNPK, UBB, AKT2, CDKN2A, FGF3, NF1, CLASP1, SPTAN1, PIK3CA, TGFBI, BMP4, DUSP6, PDGFRB, ADCY6, PRKACG, IL2RG, DYNC2H1, SF3B4, MUSK, ACTA1, ACE, NF2, KRAS, ERBB3, MAP2K2, FIBP, PSMB8, IGF2, SQSTM1, NOTCH1, MTOR, ADCY1, CD3E, LEP, PIK3CD, CBL, SMARCE1, CCND1, SPRED1, RPL5, ITPR1, WNT10A, RB1, FGF23, BDNF, RPS6KA3, FGF5, ADCY5, BRAF, INS, NFKB2, SOS2, CAV3, EDN1, GRIN2B, ITGB3, GJA1, SHOC2, EP300, SMAD4, VWF, SYNGAP1, PAX2, INSR, HLA-DRB1, DMD, PPP2R1A, HES7, FGF20, PLK4, ITGB2, AKT1, CCND2, PLEC, ITPR2, DDX58, ATXN1, RUNX1, TP53, UBE3A, EPS8, NEFL, SLC25A4, IKBKB, PPP2R5D, LRPAP1, ITGA2B, SNCA, FGF17, PRKCG, EFNB1, PTEN, FGFR3, APOA1, RUNX2, NRAS, DLG3, NGF, CD40LG, PTS, PAX3, ACTG1, WAS, PIK3R2, NTRK1, PTPN11, TNFAIP3, VCP, FGF10, TGFB1, STAT1, SPRY4, STAT3, KITLG, PCNA, CD19, AKT3, PDGFB, SOS1, KARS, FGFR2, IL6, PDGFRA, L1CAM, LAMTOR2, POLR1C, SPTBN2, APC, HRAS, EGFR, SMAD3, HSPG2, TSC1, PIK3R1, KL, SHH

MENTAL RETARDATION, AUTOSOMAL DOMINANT 36, JOUBERT SYNDROME 10, CORPUS CALLOSUM AGENESIS, NEPHRONOPHTHISIS 15, MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II, MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2, MENTAL RETARDATION, AUTOSOMAL DOMINANT 13, ?RETINITIS PIGMENTOSA 67, ALSTROM SYNDROME, MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2, PERRY SYNDROME, OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE 1, ?SECKEL SYNDROME 6, SECKEL SYNDROME 5, JOUBERT SYNDROME 5, OROFACIODIGITAL SYNDROME I, LISSENCEPHALY 1, SUBCORTICAL LAMINAR HETEROTOPIA, LISSENCEPHALY 4 (WITH MICROCEPHALY), ?RETINITIS PIGMENTOSA 23, DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT, LEUKODYSTROPHY, HYPOMYELINATING, 6, SYMMETRIC CIRCUMFERENTIAL SKIN CREASES, CONGENITAL, 1, ?MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE, MECKEL SYNDROME 4, NEPHRONOPHTHISIS FAMILIAL APLASIA OF THE VERMIS MECKEL-GRUBER SYNDROME ORAL-FACIAL-DIGITAL SYNDROME, {BARDET-BIEDL SYNDROME 14, MODIFIER OF}, ?BARDET-BIEDL SYNDROME 14, JOUBERT SYNDROME 15, MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2, SENIOR-LOKEN SYNDROME 6, ?MICROHYDRANENCEPHALY, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6, ?SECKEL SYNDROME 4, MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE, CUSHING SYNDROME, ACTH-INDEPENDENT ADRENAL, SOMATIC, CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 4, MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE, BARDET-BIEDL SYNDROME 16, {BARDET-BIEDL SYNDROME 1, MODIFIER OF},; BARDET-BIEDL SYNDROME 1, LISSENCEPHALY 3

PAFAH1B1, TUBA1A, CEP135, NEK2, CEP41, CEP63, CEP164, PRKACA, PPP2R1A, TUBB, CEP290, PLK4, PCNT, CEP57, NDE1, CEP152, OFD1, DCTN1, CLASP1, TUBG1, CDK5RAP2, ALMS1, SDCCAG8, TUBB4A, DYNC1H1, CENPJ

ADAMS-OLIVER SYNDROME 5, OSTEOGENESIS IMPERFECTA, TYPE I, PARAGANGLIOMAS 1, WITH OR WITHOUT DEAFNESS, EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 1, GALACTOSE EPIMERASE DEFICIENCY, WAGNER SYNDROME 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP, KAHRIZI SYNDROME, CAMURATI-ENGELMANN DISEASE, RETINITIS PIGMENTOSA 59, ATELOSTEOGENESIS II, DE LA CHAPELLE DYSPLASIA, THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION CONGENITAL ANEURYSM OF ASCENDING AORTA MARFAN SYNDROME, OSTEOGENESIS IMPERFECTA, TYPE III, MYASTHENIC SYNDROME, CONGENITAL, 8, WITH PRE- AND POSTSYNAPTIC DEFECTS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IN, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9, OMODYSPLASIA 1, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IU, OSTEOGENESIS IMPERFECTA, TYPE II, DIASTROPHIC DYSPLASIA, DIASTROPHIC DYSPLASIA, BROAD BONE-PLATYSPONDYLIC VARIANT, SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IA, GALACTOSEMIA, MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9, SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1, ?MITOCHONDRIAL COMPLEX (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4, EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36, ?DYSTONIA, JUVENILE-ONSET, BARAITSER-WINTER SYNDROME 1, MYASTHENIC SYNDROME, CONGENITAL, 14, WITH TUBULAR AGGREGATES, ADAMS-OLIVER SYNDROME ADAMS-OLIVER SYNDROME 1, ?COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22, ?SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME, MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IQ, GALACTOKINASE DEFICIENCY WITH CATARACTS, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IT, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IC, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS, CORNEA PLANA CONGENITA, RECESSIVE, EHLERS-DANLOS SYNDROME, TYPE VIIB, EHLERS-DANLOS SYNDROME, TYPE VIIA, OSTEOGENESIS IMPERFECTA, TYPE IV, CORNEAL DYSTROPHY, CONGENITAL STROMAL, ACHONDROGENESIS IB, ?CONGENITAL DISORDER OF GLYCOSYLATION, TYPE II, SCHWARTZ-JAMPEL SYNDROME, TYPE 1, MYASTHENIA, CONGENITAL, 12, WITH TUBULAR AGGREGATES, EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1, MITOCHONDRIAL COMPLEX II DEFICIENCY, MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX II DEFICIENCY, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE ID, EHLERS-DANLOS SYNDROME, CLASSIC, EHLERS-DANLOS SYNDROME, CLASSIC TYPE, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IF, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIB, MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2, DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE, TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIA, ?INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IE, SIALURIA, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IK, MYASTHENIC SYNDROME, CONGENITAL, 13, WITH TUBULAR AGGREGATES, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IM, CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IJ, SIALIDOSIS, TYPE I, SIALIDOSIS, TYPE II

CHST3, DPM1, SLC26A2, MAN1B1, COL1A1, SDHD, EGFR, PIGA, GPC3, B3GAT3, TGFB1, PGM1, NOTCH1, DAG1, MGAT2, B4GALT7, PMM2, ACTB, MOGS, ALG3, ALG11, COL1A2, GALT, GFPT1, ALG1, GALE, DHDDS, GALK1, DCN, AGRN, GPC6, DPM2, KERA, ATP5A1, DPAGT1, ALG2, CHSY1, VCAN, DOLK, MPDU1, GNE, ALG13, ALG6, RFT1, HSPG2, NEU1, EXT2, CHST14, SRD5A3