"Disease", "Gene"
"ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY", "CYP17A1"
"17-BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY", "HSD17B10"
"2-METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY", "ACADSB"
"THREE M SYNDROME 1", "CUL7"
"THREE M SYNDROME 2", "OBSL1"
"3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY", "MCCC1"
"3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY", "MCCC2"
"3-BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF", "HSD3B2"
"3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY", "HADHSC"
"BETA-HYDROXYISOBUTYRYL CoA DEACYLASE DEFICIENCY", "HIBCH"
"3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME", "SERAC1"
"3-METHYLGLUTACONIC ACIDURIA, TYPE I", "AUH"
"3-METHYLGLUTACONIC ACIDURIA, TYPE III", "OPA3"
"3-METHYLGLUTACONIC ACIDURIA, TYPE V", "DNAJC19"
"3MC SYNDROME 1", "MASP1"
"3MC SYNDROME 2", "COLEC11"
"46,XX SEX REVERSAL 1", "SRY"
"46,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY ", "DHH"
"46,XY SEX REVERSAL 1", "SRY"
"46,XY SEX REVERSAL 2", "DAX1"
"46,XY SEX REVERSAL 3", "NR5A1"
"46,XY SEX REVERSAL 5", "CBX2"
"46,XY SEX REVERSAL 6", "MAP3K1"
"46,XY SEX REVERSAL 7", "DHH"
"46,XY SEX REVERSAL 8", "AKR1C2"
"46,XY SEX REVERSAL 8", "AKR1C4"
"DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY", "DPYD"
"5-OXOPROLINASE DEFICIENCY", "OPLAH"
"THIOPURINE S-METHYLTRANSFERASE DEFICIENCY", "TPMT"
"CARDIOMYOPATHY, DILATED, 1A", "LMNA"
"CARDIOMYOPATHY, DILATED, 1A", "MYBPC3"
"TESTICULAR MICROLITHIASIS ", "SLC34A2"
"ABCD SYNDROME", "EDNRB"
"ACYL-CoA DEHYDROGENASE FAMILY, MEMBER 9, DEFICIENCY OF", "ACAD9"
"ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA", "GNAS"
"ADULT SYNDROME", "TP63"
"ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY", "GATM"
"AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY", "ATIC"
"AARSKOG-SCOTT SYNDROME", "FGD1"
"ABETALIPOPROTEINEMIA", "MTP"
"CAMPOMELIC DYSPLASIA", "SOX9"
"ACATALASEMIA", "CAT"
"ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME", "AAAS"
"ACHEIROPODY", "LMBR1"
"ACHONDROGENESIS, TYPE IB", "SLC26A2"
"ACHONDROGENESIS, TYPE IA", "TRIP11"
"ACHONDROGENESIS, TYPE II", "COL2A1"
"ACHONDROPLASIA", "FGFR3"
"RETINAL CONE DYSTROPHY 3A", "PDE6H"
"ACHROMATOPSIA 2", "CNGA3"
"ACHROMATOPSIA 3", "CNGB3"
"ACHROMATOPSIA 4", "GNAT2"
"ACNE INVERSA, FAMILIAL, 1", "NCSTN"
"ACNE INVERSA, FAMILIAL, 2", "PSENEN"
"ACNE INVERSA, FAMILIAL, 3", "PSEN1"
"ACROCALLOSAL SYNDROME", "KIF7"
"ACROCAPITOFEMORAL DYSPLASIA", "IHH"
"ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE", "SLC39A4"
"ACRODYSOSTOSIS 1, WITH OR WITHOUT HORMONE RESISTANCE", "PRKAR1A"
"ACRODYSOSTOSIS 2, WITH OR WITHOUT HORMONE RESISTANCE", "PDE4D"
"ACROFACIAL DYSOSTOSIS 1, NAGER TYPE", "SF3B4"
"ACROKERATOSIS VERRUCIFORMIS", "ATP2A2"
"PITUITARY ADENOMA, GROWTH HORMONE-SECRETING", "GNAS"
"PITUITARY ADENOMA, GROWTH HORMONE-SECRETING", "SSTR5"
"PITUITARY ADENOMA, GROWTH HORMONE-SECRETING", "AIP"
"ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE", "GDF5"
"ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE", "NPR2"
"ACROMICRIC DYSPLASIA", "FBN1"
"ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF", "ACADM"
"ACYL-CoA DEHYDROGENASE, SHORT-CHAIN, DEFICIENCY OF", "ACADS"
"ADAMS-OLIVER SYNDROME 1", "ARHGAP31"
"ADAMS-OLIVER SYNDROME 2", "DOCK6"
"ADAMS-OLIVER SYNDROME 3", "RBPJ"
"ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY", "APRT"
"LUNG CANCER", "CYP2A6"
"LUNG CANCER", "EGFR"
"LUNG CANCER", "TNFSF6"
"LUNG CANCER", "IRF1"
"LUNG CANCER", "BRAF"
"LUNG CANCER", "ERBB2"
"LUNG CANCER", "PIK3CA"
"LUNG CANCER", "KRAS"
"LUNG CANCER", "MAP3K8"
"LUNG CANCER", "CASP8"
"LUNG CANCER", "PRKN"
"LUNG CANCER", "SLC22A1L"
"LUNG CANCER", "PPP2R1B"
"LUNG CANCER", "ERCC6"
"OVARIAN CANCER", "CTNNB1"
"OVARIAN CANCER", "AKT1"
"OVARIAN CANCER", "PIK3CA"
"OVARIAN CANCER", "CDH1"
"OVARIAN CANCER", "OPCML"
"OVARIAN CANCER", "PRKN"
"FAMILIAL ADENOMATOUS POLYPOSIS, 2", "MUTYH"
"SALIVARY GLAND ADENOMA, PLEOMORPHIC", "PLAG1"
"FAMILIAL ADENOMATOUS POLYPOSIS 1", "APC"
"SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE,", "ADA"
"ADENOSINE TRIPHOSPHATE, ELEVATED, OF ERYTHROCYTES", "PKLR"
"ADENYLOSUCCINASE DEFICIENCY", "ADSL"
"ADERMATOGLYPHIA", "SMARCAD1"
"ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1", "ADIPOQ"
"ADRENOCORTICAL CARCINOMA, HEREDITARY", "TP53"
"ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE DEFICIENCY", "CYP11B1"
"ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY", "CYP21A2"
"ADRENAL HYPOPLASIA, CONGENITAL", "DAX1"
"ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE", "CYP11A"
"ACTH DEFICIENCY, ISOLATED", "TBX19"
"ADRENOLEUKODYSTROPHY", "ABCD1"
"BLOOD GROUP--I SYSTEM", "GCNT2"
"ADVANCED SLEEP-PHASE SYNDROME, FAMILIAL", "PER2"
"AFIBRINOGENEMIA, CONGENITAL", "FGA"
"AFIBRINOGENEMIA, CONGENITAL", "FGB"
"AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE", "IGHM"
"AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE", "IGLL1"
"AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE", "CD79A"
"AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE", "BLNK"
"AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT", "LRRC8A"
"AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE", "CD79B"
"ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III", "BTK"
"AGAMMAGLOBULINEMIA, X-LINKED", "BTK"
"AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY", "SLC12A6"
"AGNATHIA-OTOCEPHALY COMPLEX", "PRRX1"
"AICARDI-GOUTIERES SYNDROME 1", "TREX1"
"AICARDI-GOUTIERES SYNDROME 2", "RNASEH2B"
"AICARDI-GOUTIERES SYNDROME 3", "RNASEH2C"
"AICARDI-GOUTIERES SYNDROME 4", "RNASEH2A"
"AICARDI-GOUTIERES SYNDROME 5", "SAMHD1"
"ALAGILLE SYNDROME 2", "NOTCH2"
"ALAGILLE SYNDROME 1", "JAG1"
"ALAND ISLAND EYE DISEASE", "CACNA1F"
"ALBINISM, OCULOCUTANEOUS, TYPE II", "MC1R"
"ALBINISM, OCULOCUTANEOUS, TYPE II", "OCA2"
"ALBINISM, OCULOCUTANEOUS, TYPE IA", "TYR"
"ALBINISM, OCULOCUTANEOUS, TYPE IB", "TYR"
"ALBINISM, OCULOCUTANEOUS, TYPE III", "TYRP1"
"ALCOHOL SENSITIVITY, ACUTE", "ALDH2"
"GLUCOCORTICOID-REMEDIABLE ALDOSTERONISM", "CYP11B1"
"ALEXANDER DISEASE ", "GFAP"
"ALKAPTONURIA", "HGD"
"ALLAN-HERNDON-DUDLEY SYNDROME", "SLC16A2"
"ALOPECIA UNIVERSALIS CONGENITA", "HR"
"ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME", "RBM28"
"ALPHA-2-PLASMIN INHIBITOR DEFICIENCY", "PLI"
"ALPHA-METHYLACETOACETIC ACIDURIA", "ACAT1"
"ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY", "AMACR"
"ALPHA-THALASSEMIA MYELODYSPLASIA SYNDROME", "ATRX"
"ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED", "ATRX"
"ALPHA/BETA T-CELL LYMPHOPENIA WITH GAMMA/DELTA T-CELL EXPANSION, SEVERE CYTOMEGALOVIRUS INFECTION, AND AUTOIMMUNITY ", "RAG1"
"ALPORT SYNDROME, X-LINKED", "COL4A5"
"ALPORT SYNDROME, AUTOSOMAL DOMINANT ", "COL4A3"
"ALPORT SYNDROME, AUTOSOMAL RECESSIVE ", "COL4A3"
"ALPORT SYNDROME, AUTOSOMAL RECESSIVE ", "COL4A4"
"ALSTROM SYNDROME", "ALMS1"
"ALTERNATING HEMIPLEGIA OF CHILDHOOD 2", "ATP1A3"
"ALTERNATING HEMIPLEGIA OF CHILDHOOD 1", "ATP1A2"
"ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS", "FOXF1"
"ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS", "CPS1"
"ALVEOLAR SOFT PART SARCOMA", "ASPSCR1"
"ALZHEIMER DISEASE", "A2M "
"ALZHEIMER DISEASE", "APP"
"ALZHEIMER DISEASE", "ACE"
"ALZHEIMER DISEASE", "NOS3"
"ALZHEIMER DISEASE", "PLAU"
"ALZHEIMER DISEASE", "SORL1"
"ALZHEIMER DISEASE", "BLMH"
"ALZHEIMER DISEASE", "APBB2"
"ALZHEIMER DISEASE", "MPO"
"ALZHEIMER DISEASE", "PACIP1"
"ALZHEIMER DISEASE", "HFE"
"ALZHEIMER DISEASE 3", "PSEN1"
"ALZHEIMER DISEASE 2", "APOE"
"ALZHEIMER DISEASE 4", "PSEN2"
"AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME", "FAM20A"
"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3", "WDR72"
"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA4", "C4orf26"
"AMELOGENESIS IMPERFECTA, TYPE IV", "DLX3"
"AMELOGENESIS IMPERFECTA, TYPE IE", "AMELX"
"AMELOGENESIS IMPERFECTA, TYPE III", "FAM83H"
"AMELOGENESIS IMPERFECTA, TYPE IB", "ENAM"
"AMELOGENESIS IMPERFECTA, TYPE IC", "ENAM"
"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA1", "KLK4"
"AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA2", "MMP20"
"AMINOACYLASE 1 DEFICIENCY", "ACY1"
"AMISH INFANTILE EPILEPSY SYNDROME", "SIAT9"
"AMYLOIDOSIS, FAMILIAL VISCERAL", "APOA1"
"AMYLOIDOSIS, FAMILIAL VISCERAL", "FGA"
"AMYLOIDOSIS, FAMILIAL VISCERAL", "LYZ"
"AMYLOIDOSIS, FINNISH TYPE", "GSN"
"AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED", "TTR"
"AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 1", "OSMR"
"AMYLOIDOSIS, PRIMARY LOCALIZED CUTANEOUS, 2", "IL31RA"
"AMYOTROPHIC LATERAL SCLEROSIS 1", "SOD1"
"AMYOTROPHIC LATERAL SCLEROSIS 1", "NEFH"
"AMYOTROPHIC LATERAL SCLEROSIS 1", "PRPH"
"AMYOTROPHIC LATERAL SCLEROSIS 1", "DCTN1"
"AMYOTROPHIC LATERAL SCLEROSIS 10, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA", "TARDBP"
"AMYOTROPHIC LATERAL SCLEROSIS 11", "FIG4"
"AMYOTROPHIC LATERAL SCLEROSIS 12", "OPTN"
"AMYOTROPHIC LATERAL SCLEROSIS 14, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA", "VCP"
"AMYOTROPHIC LATERAL SCLEROSIS 15, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA", "UBQLN2"
"AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE", "SIGMAR1"
"AMYOTROPHIC LATERAL SCLEROSIS 17", "CHMP2B"
"AMYOTROPHIC LATERAL SCLEROSIS 18", "PFN1"
"AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE", "ALS2"
"AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE", "SETX"
"AMYOTROPHIC LATERAL SCLEROSIS 6, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA", "FUS"
"AMYOTROPHIC LATERAL SCLEROSIS 8", "VAPB"
"AMYOTROPHIC LATERAL SCLEROSIS 9", "ANG"
"FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS", "C9orf72"
"AMYOTROPHY, HEREDITARY NEURALGIC", "SEPT9"
"ANAUXETIC DYSPLASIA", "RMRP"
"ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS", "KCNJ2"
"ANDROGEN INSENSITIVITY SYNDROME", "AR"
"ANDROGEN INSENSITIVITY, PARTIAL", "AR"
"ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES", "GATA1"
"ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE I", "CDAN1"
"ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II", "SEC23B"
"ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE IV", "KLF1"
"RH-NULL, REGULATOR TYPE", "RHAG"
"URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO", "NT5C3"
"ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD ", "NRAMP2"
"ANEMIA, SIDEROBLASTIC, X-LINKED", "ALAS2"
"ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE ", "GLRX5"
"ANEMIA, SIDEROBLASTIC, PYRIDOXINE-REFRACTORY, AUTOSOMAL RECESSIVE ", "SLC25A38"
"ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA", "ABCB7"
"ANGELMAN SYNDROME", "MECP2"
"ANGELMAN SYNDROME", "CDKL5"
"ANGELMAN SYNDROME", "UBE3A"
"ANGIOEDEMA, HEREDITARY, TYPE III", "F12"
"ANGIOEDEMA, HEREDITARY, TYPE I", "C1NH"
"ANGIOPATHY, HEREDITARY, WITH NEPHROPATHY, ANEURYSMS, AND MUSCLE CRAMPS", "COL4A1"
"ANIRIDIA", "PAX6"
"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 4", "RSPO4"
"BRANCHIOOTORENAL SYNDROME 1", "EYA1"
"ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS", "FOXE3"
"ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS", "PITX3"
"ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS", "POR"
"ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS", "FGFR2"
"AORTIC ANEURYSM, FAMILIAL THORACIC 4", "MYH11"
"AORTIC ANEURYSM, FAMILIAL THORACIC 6", "ACTA2"
"AORTIC ANEURYSM, FAMILIAL THORACIC 7", "MYLK"
"AORTIC VALVE DISEASE 2", "SMAD6"
"AORTIC VALVE DISEASE 1", "NOTCH1"
"APERT SYNDROME", "FGFR2"
"APHAKIA, CONGENITAL PRIMARY ", "FOXE3"
"FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, GRN-RELATED", "GRN"
"APLASIA CUTIS CONGENITA, RETICULOLINEAR, WITH MICROCEPHALY, FACIAL DYSMORPHISM, AND OTHER CONGENITAL ANOMALIES", "COX7B"
"APLASIA OF LACRIMAL AND SALIVARY GLANDS", "FGF10"
"APPARENT MINERALOCORTICOID EXCESS", "HSD11B2"
"ARGININEMIA", "ARG1"
"ARGININOSUCCINIC ACIDURIA", "ASL"
"AROMATASE DEFICIENCY", "CYP19A1"
"AROMATASE EXCESS SYNDROME", "CYP19A1"
"AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY", "DDC"
"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1", "TGFB3"
"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10", "DSG2"
"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11", "DSC2"
"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12", "JUP"
"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2", "RYR2"
"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5", "TMEM43"
"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8", "DSP"
"ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9", "PKP2"
"ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1", "ENPP1"
"ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 2", "ABCC6"
"ARTERIAL TORTUOSITY SYNDROME", "SLC2A10"
"ARTHROGRYPOSIS, DISTAL, TYPE 1A", "TPM2"
"ARTHROGRYPOSIS, DISTAL, TYPE 2B", "MYH3"
"ARTHROGRYPOSIS, DISTAL, TYPE 2B", "TPM2"
"ARTHROGRYPOSIS, DISTAL, TYPE 2B", "TNNI2"
"ARTHROGRYPOSIS, DISTAL, TYPE 2B", "TNNT3"
"ARTHROGRYPOSIS, DISTAL, TYPE 1B", "MYBPC1"
"ARTHROGRYPOSIS, DISTAL, TYPE 2A", "MYH3"
"LETHAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE", "GLE1"
"ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1", "VPS33B"
"ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2", "VIPAR"
"ARTHROPATHY, PROGRESSIVE PSEUDORHEUMATOID, OF CHILDHOOD", "WISP3"
"ARTS SYNDROME", "PRPS1"
"ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1", "GOT1"
"ASPARTYLGLUCOSAMINURIA", "AGA"
"ASPHYXIATING THORACIC DYSTROPHY 2", "IFT80"
"ASPHYXIATING THORACIC DYSTROPHY 3", "DYNC2H1"
"ASPHYXIATING THORACIC DYSTROPHY 4", "TTC21B"
"ASPHYXIATING THORACIC DYSTROPHY 5", "WDR19"
"ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE", "PTGER2"
"ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE", "TBX21"
"VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF", "TTPA"
"CEREBELLAR ATAXIA, CAYMAN TYPE", "ATCAY"
"ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA", "APTX"
"POSTERIOR COLUMN ATAXIA WITH RETINITIS PIGMENTOSA", "FLVCR1"
"ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT", "RNF170"
"SPASTIC ATAXIA 4, AUTOSOMAL RECESSIVE", "MTPAP"
"SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE", "AFG3L2"
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1", "SETX"
"ATAXIA-TELANGIECTASIA", "ATM"
"ATAXIA-TELANGIECTASIA-LIKE DISORDER", "MRE11A"
"ATELOSTEOGENESIS, TYPE II", "SLC26A2"
"ATELOSTEOGENESIS, TYPE I", "FLNB"
"ATELOSTEOGENESIS, TYPE III", "FLNB"
"ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME", "HOXA1"
"IgE RESPONSIVENESS, ATOPIC", "MS4A2"
"IgE RESPONSIVENESS, ATOPIC", "IL4R"
"IgE RESPONSIVENESS, ATOPIC", "SELP"
"IgE RESPONSIVENESS, ATOPIC", "PLA2G7"
"IgE RESPONSIVENESS, ATOPIC", "SPINK5"
"IgE RESPONSIVENESS, ATOPIC", "IL21R"
"IgE RESPONSIVENESS, ATOPIC", "HAVCR1"
"IgE RESPONSIVENESS, ATOPIC", "PHF11"
"ATRANSFERRINEMIA", "TF"
"ATRIAL FIBRILLATION, FAMILIAL, 10", "SCN5A"
"ATRIAL FIBRILLATION, FAMILIAL, 11", "GJA5"
"ATRIAL FIBRILLATION, FAMILIAL, 12", "ABCC9"
"ATRIAL FIBRILLATION, FAMILIAL, 3", "KCNQ1"
"ATRIAL FIBRILLATION, FAMILIAL, 4", "KCNE2"
"ATRIAL FIBRILLATION, FAMILIAL, 6", "NPPA"
"ATRIAL FIBRILLATION, FAMILIAL, 7", "KCNA5"
"ATRIAL FIBRILLATION, FAMILIAL, 9", "KCNJ2"
"ATRIAL SEPTAL DEFECT 2", "GATA4"
"ATRIAL SEPTAL DEFECT 3", "MYH6"
"ATRIAL SEPTAL DEFECT 4", "TBX20"
"ATRIAL SEPTAL DEFECT 5", "ACTC1"
"ATRIAL SEPTAL DEFECT 6", "TLL1"
"ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS", "NKX2-5"
"ATRIAL SEPTAL DEFECT 8", "CITED2"
"ATRIAL SEPTAL DEFECT 9", "GATA6"
"ATRICHIA WITH PAPULAR LESIONS", "HR"
"ATRIOVENTRICULAR SEPTAL DEFECT 3", "GJA1"
"ATRIOVENTRICULAR SEPTAL DEFECT 4", "GATA4"
"ATRIOVENTRICULAR SEPTAL DEFECT 5", "GATA6"
"ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2", "CRELD1"
"ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 2", "CYBB"
"AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1", "DIAPH3"
"DEAFNESS, AUTOSOMAL RECESSIVE 9", "OTOF"
"AURAL ATRESIA, CONGENITAL", "TSHZ1"
"AURICULOCONDYLAR SYNDROME 1", "GNAI3"
"AURICULOCONDYLAR SYNDROME 2", "PLCB4"
"AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM ", "ITCH"
"AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV", "NRAS"
"AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME", "TNFRSF6"
"AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME", "TNFSF6"
"AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IIA", "CASP10"
"AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I", "AIRE"
"AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED", "PLCG2"
"AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME", "PSMB8"
"AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY", "COL2A1"
"AXENFELD-RIEGER SYNDROME, TYPE 1", "PITX2"
"AXENFELD-RIEGER SYNDROME, TYPE 3", "FOXC1"
"ATYPICAL MYCOBACTERIOSIS, FAMILIAL", "IFNGR1"
"ATYPICAL MYCOBACTERIOSIS, FAMILIAL", "IFNGR2"
"ATYPICAL MYCOBACTERIOSIS, FAMILIAL", "STAT1"
"ATYPICAL MYCOBACTERIOSIS, FAMILIAL", "IL12RB1"
"BALLER-GEROLD SYNDROME", "RECQL4"
"HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE", "FOXE1"
"BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA", "OCLN"
"BANNAYAN-RILEY-RUVALCABA SYNDROME", "PTEN"
"BARAITSER-WINTER SYNDROME 1", "ACTB"
"BARAITSER-WINTER SYNDROME 2", "ACTG1"
"BARDET-BIEDL SYNDROME", "BBS1"
"BARDET-BIEDL SYNDROME", "BBS4"
"BARDET-BIEDL SYNDROME", "TRIM32"
"BARDET-BIEDL SYNDROME", "BBS5"
"BARDET-BIEDL SYNDROME", "MKKS"
"BARDET-BIEDL SYNDROME", "BBS2"
"BARDET-BIEDL SYNDROME", "BBS7"
"BARDET-BIEDL SYNDROME", "PTHB1"
"BARDET-BIEDL SYNDROME", "TTC8"
"BARDET-BIEDL SYNDROME", "ARL6"
"BARDET-BIEDL SYNDROME", "MKS1"
"BARDET-BIEDL SYNDROME", "TMEM67"
"BARDET-BIEDL SYNDROME", "CEP290"
"BARDET-BIEDL SYNDROME", "BBS10"
"BARDET-BIEDL SYNDROME", "CCDC28B"
"BARDET-BIEDL SYNDROME", "BBS12"
"BARDET-BIEDL SYNDROME", "C2orf86"
"BARE LYMPHOCYTE SYNDROME, TYPE I", "TAP1"
"BARE LYMPHOCYTE SYNDROME, TYPE I", "TAP2"
"BARE LYMPHOCYTE SYNDROME, TYPE I", "TAPBP"
"BARE LYMPHOCYTE SYNDROME, TYPE II", "MHC2TA"
"BARE LYMPHOCYTE SYNDROME, TYPE II", "RFXAP"
"BARE LYMPHOCYTE SYNDROME, TYPE II", "RFX5"
"BARE LYMPHOCYTE SYNDROME, TYPE II", "RFXANK"
"BARRETT ESOPHAGUS", "MSR1"
"BARRETT ESOPHAGUS", "CTHRC1"
"BARRETT ESOPHAGUS", "ASCC1"
"KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS", "GJB2"
"BARTH SYNDROME", "TAZ"
"BARTTER SYNDROME, ANTENATAL, TYPE 1", "SLC12A1"
"BARTTER SYNDROME, ANTENATAL, TYPE 2", "KCNJ1"
"BARTTER SYNDROME, TYPE 3", "CLCNKB"
"BARTTER SYNDROME, TYPE 4A", "BSND"
"BARTTER SYNDROME, TYPE 4B", "CLCNKB"
"BARTTER SYNDROME, TYPE 4B", "CLCNKA"
"BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1", "RASA1"
"BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1", "PTCH1"
"BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1", "PTCH2"
"BASAL CELL NEVUS SYNDROME", "PTCH1"
"BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 3", "SLC20A2"
"BASAL LAMINAR DRUSEN", "HF1"
"BEARE-STEVENSON CUTIS GYRATA SYNDROME", "FGFR2"
"MUSCULAR DYSTROPHY, BECKER TYPE", "DMD"
"BECKWITH-WIEDEMANN SYNDROME", "H19"
"BECKWITH-WIEDEMANN SYNDROME", "CDKN1C"
"BECKWITH-WIEDEMANN SYNDROME", "KCNQ1OT1"
"BECKWITH-WIEDEMANN SYNDROME", "NSD1"
"BENT BONE DYSPLASIA SYNDROME", "FGFR2"
"BERNARD-SOULIER SYNDROME", "GP1BB"
"BERNARD-SOULIER SYNDROME", "GP9"
"BERNARD-SOULIER SYNDROME", "GP1BA"
"BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT", "GP1BA"
"MACULAR DYSTROPHY, VITELLIFORM", "BEST1"
"BESTROPHINOPATHY, AUTOSOMAL RECESSIVE", "BEST1"
"BETA-UREIDOPROPIONASE DEFICIENCY ", "UPB1"
"BETHLEM MYOPATHY", "COL6A1"
"BETHLEM MYOPATHY", "COL6A2"
"BETHLEM MYOPATHY", "COL6A3"
"BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY", "CYP4V2"
"BIFID NOSE WITH OR WITHOUT ANORECTAL AND RENAL ANOMALIES", "FREM1"
"BILE ACID MALABSORPTION, PRIMARY", "SLC10A2"
"BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1", "HSD3B7"
"BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2", "AKR1D1"
"BILE ACID SYNTHESIS DEFECT, CONGENITAL, 3", "CYP7B1"
"BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4", "AMACR"
"BIOTINIDASE DEFICIENCY MULTIPLE CARBOXYLASE DEFICIENCY, LATE-ONSET MULTIPLE CARBOXYLASE DEFICIENCY, JUVENILE-ONSET BTD DEFICIENCY ", "BTD"
"BIRK-BAREL MENTAL RETARDATION DYSMORPHISM SYNDROME", "KCNK9"
"BIRT-HOGG-DUBE SYNDROME", "FLCN"
"BJORNSTAD SYNDROME", "BCS1L"
"BLADDER CANCER ", "FGFR3"
"BLADDER CANCER ", "HRAS"
"BLADDER CANCER ", "KRAS"
"BLADDER CANCER ", "RB1"
"BLAU SYNDROME", "NOD2"
"BLEEDING DISORDER, PLATELET-TYPE, 11", "GP6"
"BLEEDING DISORDER, PLATELET-TYPE, 8", "P2RY12"
"BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS", "FOXL2"
"BLOOD GROUP--LUTHERAN INHIBITOR", "KLF1"
"BLOOM SYNDROME", "RECQL3"
"BLUE CONE MONOCHROMACY", "OPN1MW"
"BLUE CONE MONOCHROMACY", "OPN1LW"
"BOHRING-OPITZ SYNDROME", "ASXL1"
"BONE MARROW FAILURE, FAMILIAL", "SRP72"
"BOOMERANG DYSPLASIA ", "FLNB"
"BORJESON-FORSSMAN-LEHMANN SYNDROME", "PHF6"
"BOTHNIA RETINAL DYSTROPHY", "RLBP1"
"BOWEN-CONRADI SYNDROME", "EMG1"
"BRANCHIOOTIC SYNDROME 3", "SIX1"
"BRACHYDACTYLY, TYPE A1", "IHH"
"BRACHYDACTYLY, TYPE A2", "BMP2"
"BRACHYDACTYLY, TYPE A2", "GDF5"
"BRACHYDACTYLY, TYPE A2", "BMPR1B"
"BRACHYDACTYLY, TYPE B1", "ROR2"
"BRACHYDACTYLY, TYPE B2", "NOG"
"BRACHYDACTYLY, TYPE C", "GDF5"
"BRACHYDACTYLY, TYPE D", "HOXD13"
"BRACHYDACTYLY, TYPE E1", "HOXD13"
"BRACHYDACTYLY, TYPE E2", "PTHLH"
"BRACHYDACTYLY-SYNDACTYLY SYNDROME", "HOXD13"
"BRACHYDACTYLY-MENTAL RETARDATION SYNDROME", "HDAC4"
"BRACHYOLMIA TYPE 3", "TRPV4"
"PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION", "RGS9"
"PROLONGED ELECTRORETINAL RESPONSE SUPPRESSION", "RGS9BP"
"BRAIN SMALL VESSEL DISEASE WITH HEMORRHAGE", "COL4A1"
"BRANCHED-CHAIN KETOACID DEHYDROGENASE KINASE DEFICIENCY", "BCKDK"
"BRANCHIOOCULOFACIAL SYNDROME", "TFAP2A"
"BRANCHIOOTIC SYNDROME 1", "EYA1"
"BRANCHIOOTORENAL SYNDROME 2", "SIX5"
"BREAST CANCER", "AKT1"
"BREAST CANCER", "PIK3CA"
"BREAST CANCER", "PHB"
"BREAST CANCER", "RAD51A"
"BREAST CANCER", "KRAS"
"BREAST CANCER", "TP53"
"BREAST CANCER", "CDH1"
"BREAST CANCER", "BRCA2"
"BREAST CANCER", "XRCC3"
"BREAST CANCER", "HMMR"
"BREAST CANCER", "TSG101"
"BREAST CANCER", "BARD1"
"BREAST CANCER", "CASP8"
"BREAST CANCER", "SLC22A1L"
"BREAST CANCER", "RAD54L"
"BREAST CANCER", "CHEK2"
"BREAST CANCER", "PPM1D"
"BREAST CANCER", "BRIP1"
"BREAST CANCER", "RB1CC1"
"BREAST CANCER", "ATM"
"BREAST CANCER", "PALB2"
"BRITTLE CORNEA SYNDROME 2", "PRDM5"
"BRITTLE CORNEA SYNDROME 1", "ZNF469"
"BRODY MYOPATHY ", "ATP2A1"
"BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1", "SCNN1B"
"BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1", "CFTR"
"BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2", "SCNN1A"
"BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 3", "SCNN1G"
"BROOKE-SPIEGLER SYNDROME", "CYLD"
"BROWN-VIALETTO-VAN LAERE SYNDROME 1", "SLC52A3"
"BROWN-VIALETTO-VAN LAERE SYNDROME 2", "SLC52A2"
"BRUCK SYNDROME 2", "PLOD2"
"BRUGADA SYNDROME 1", "SCN5A"
"BRUGADA SYNDROME 2", "GPD1L"
"BRUGADA SYNDROME 3", "CACNA1C"
"BRUGADA SYNDROME 4", "CACNB2"
"BRUGADA SYNDROME 5", "SCN1B"
"BRUGADA SYNDROME 6", "KCNE3"
"BRUGADA SYNDROME 7", "SCN3B"
"BRUGADA SYNDROME 8", "HCN4"
"BRUNNER SYNDROME ", "MAOA"
"BURKITT LYMPHOMA", "MYC"
"BUSCHKE-OLLENDORFF SYNDROME", "LEMD3"
"C SYNDROME", "CD96"
"C1q DEFICIENCY", "C1QA"
"C1q DEFICIENCY", "C1QB"
"C1q DEFICIENCY", "C1QC"
"COMPLEMENT COMPONENT C1s DEFICIENCY", "C1S"
"COMPLEMENT COMPONENT 2 DEFICIENCY", "C2"
"COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE", "C3"
"COMPLEMENT COMPONENT 4B DEFICIENCY", "C4B"
"COMPLEMENT COMPONENT 4A DEFICIENCY", "C4A"
"COMPLEMENT COMPONENT 5 DEFICIENCY", "C5"
"COMPLEMENT COMPONENT 6 DEFICIENCY", "C6"
"COMPLEMENT COMPONENT 7 DEFICIENCY", "C7"
"COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I", "C8A"
"COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II", "C8B"
"COMPLEMENT COMPONENT 9 DEFICIENCY", "C9"
"NEMALINE MYOPATHY 1", "TPM3"
"CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY", "HTRA1"
"CAMPTODACTYLY, TALL STATURE, AND HEARING LOSS SYNDROME", "FGFR3"
"CD59 DEFICIENCY ", "CD59"
"CD8 DEFICIENCY, FAMILIAL ", "CD8A"
"CHARGE SYNDROME", "SEMA3E"
"CHARGE SYNDROME", "CHD7"
"CONGENITAL HEMIDYSPLASIA WITH ICHTHYOSIFORM ERYTHRODERMA AND LIMB DEFECTS", "NSDHL"
"COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, MENTAL RETARDATION, AND EAR ANOMALIES SYNDROME", "PIGL"
"CINCA SYNDROME", "NLRP3"
"CK SYNDROME", "NSDHL"
"COACH SYNDROME", "TMEM67"
"COACH SYNDROME", "RPGRIP1L"
"COACH SYNDROME", "CC2D2A"
"PULMONARY DISEASE, CHRONIC OBSTRUCTIVE", "MMP1"
"PULMONARY DISEASE, CHRONIC OBSTRUCTIVE", "HMOX1"
"CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LETHAL NEONATAL", "CPT2"
"CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY", "CPT1A"
"CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, INFANTILE", "CPT2"
"MASA SYNDROME", "L1CAM"
"CAFFEY DISEASE", "COL1A1"
"CALCIFICATION OF JOINTS AND ARTERIES", "NT5E"
"CAMPTODACTYLY-ARTHROPATHY-COXA VARA-PERICARDITIS SYNDROME", "PRG4"
"CAMURATI-ENGELMANN DISEASE", "TGFB1"
"CANAVAN DISEASE", "ASPA"
"CANDIDIASIS, FAMILIAL, 2", "CARD9"
"CANDIDIASIS, FAMILIAL, 4", "CLEC7A"
"CANDIDIASIS, FAMILIAL, 5", "IL17RA"
"CANDIDIASIS, FAMILIAL, 6", "IL17F"
"CANDIDIASIS, FAMILIAL, 7", "STAT1"
"CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION", "RASA1"
"CARBAMOYL PHOSPHATE SYNTHETASE I DEFICIENCY, HYPERAMMONEMIA DUE TO", "CPS1"
"CARBOXYPEPTIDASE N DEFICIENCY ", "CPN1"
"CARCINOID TUMORS, INTESTINAL ", "SDHD"
"CARDIAC ARRHYTHMIA, ANKYRIN-B-RELATED", "ANK2"
"CARDIAC VALVULAR DYSPLASIA, X-LINKED", "FLNA"
"CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY", "SCO2"
"CARDIOFACIOCUTANEOUS SYNDROME", "BRAF"
"CARDIOFACIOCUTANEOUS SYNDROME", "MAP2K1"
"CARDIOFACIOCUTANEOUS SYNDROME", "KRAS"
"CARDIOFACIOCUTANEOUS SYNDROME", "MAP2K2"
"CARDIOMYOPATHY, DILATED, 1C", "LDB3"
"CARDIOMYOPATHY, DILATED, 1AA", "ACTN2"
"CARDIOMYOPATHY, DILATED, 1BB", "DSG2"
"CARDIOMYOPATHY, DILATED, 1CC", "NEXN"
"CARDIOMYOPATHY, DILATED, 1D", "TNNT2"
"CARDIOMYOPATHY, DILATED, 1DD", "RBM20"
"CARDIOMYOPATHY, DILATED, 1E", "SCN5A"
"CARDIOMYOPATHY, DILATED, 1EE", "MYH6"
"CARDIOMYOPATHY, DILATED, 1FF", "TNNI3"
"CARDIOMYOPATHY, DILATED, 1G", "TTN"
"CARDIOMYOPATHY, DILATED, 1GG", "SDHA"
"CARDIOMYOPATHY, DILATED, 1HH", "BAG3"
"CARDIOMYOPATHY, DILATED, 1I", "DES"
"CARDIOMYOPATHY, DILATED, 1J", "EYA4"
"CARDIOMYOPATHY, DILATED, 1L", "SGCD"
"CARDIOMYOPATHY, DILATED, 1M", "CSRP3"
"CARDIOMYOPATHY, DILATED, 1N", "TCAP"
"CARDIOMYOPATHY, DILATED, 1O", "ABCC9"
"CARDIOMYOPATHY, DILATED, 1P", "PLN"
"CARDIOMYOPATHY, DILATED, 1R", "ACTC1"
"CARDIOMYOPATHY, DILATED, 1S", "MYH7"
"CARDIOMYOPATHY, DILATED, 1T", "TMPO"
"CARDIOMYOPATHY, DILATED, 1U", "PSEN1"
"CARDIOMYOPATHY, DILATED, 1V", "PSEN2"
"CARDIOMYOPATHY, DILATED, 1W", "VCL"
"CARDIOMYOPATHY, DILATED, 1X", "FKTN"
"CARDIOMYOPATHY, DILATED, 1Y", "TPM1"
"CARDIOMYOPATHY, DILATED, 1Z", "TNNC1"
"CARDIOMYOPATHY, DILATED, 2A", "TNNI3"
"CARDIOMYOPATHY, DILATED, 2B", "GATAD1"
"CARDIOMYOPATHY, DILATED, 3B", "DMD"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 17", "JPH2"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6", "PRKAG2"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1", "SLC25A4"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1", "MYH7"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1", "CAV3"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1", "MYLK2"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10", "MYL2"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11", "ACTC1"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12", "CSRP3"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13", "TNNC1"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14", "MYH6"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15", "VCL"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 16", "MYOZ2"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18", "PLN"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 19", "CALR3"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 2", "TNNT2"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20", "NEXN"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 3", "TPM1"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4", "MYBPC3"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7", "TNNI3"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8", "MYL3"
"CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9", "TTN"
"CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1", "TNNI3"
"CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3", "TNNT2"
"CARNEY COMPLEX VARIANT ", "MYH8"
"CARNEY COMPLEX, TYPE 1", "PRKAR1A"
"CARNITINE DEFICIENCY, SYSTEMIC PRIMARY", "SLC22A5"
"CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY", "SLC25A20"
"CAROTID INTIMAL MEDIAL THICKNESS 1", "PPARG"
"CARPAL TUNNEL SYNDROME", "TTR"
"CARPENTER SYNDROME 1", "RAB23"
"CARTILAGE-HAIR HYPOPLASIA", "RMRP"
"CATARACT, COPPOCK-LIKE", "CRYBB2"
"CATARACT, COPPOCK-LIKE", "CRYGC"
"CATARACT, LAMELLAR", "HSF4"
"CATARACT, AGE-RELATED CORTICAL, 2", "EPHA2"
"CATARACT, AUTOSOMAL DOMINANT, MULTIPLE TYPES 1 ", "BFSP2"
"CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 2", "FYCO1"
"CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 4", "TDRD7"
"CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 5", "AGK"
"CATARACT, CONGENITAL, CERULEAN TYPE, 2", "CRYBB2"
"CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2", "CRYBB3"
"CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3", "CRYBB1"
"CATARACT, CONGENITAL ZONULAR, WITH SUTURAL OPACITIES", "CRYBA1"
"CATARACT, CONGENITAL, X-LINKED", "NHS"
"CATARACT, CONGENITAL, CERULEAN TYPE, 3", "CRYGD"
"CATARACT, CORTICAL, JUVENILE-ONSET ", "BFSP1"
"CATARACT, CRYSTALLINE ACULEIFORM", "CRYGD"
"CATARACT, JUVENILE, WITH MICROCORNEA AND GLUCOSURIA", "SLC16A12"
"CATARACT, LAMELLAR 2 ", "CRYBA4"
"CATARACT, NONNUCLEAR POLYMORPHIC CONGENITAL, AUTOSOMAL DOMINANT", "CRYGD"
"CATARACT, POSTERIOR POLAR, 2", "CRYAB"
"CATARACT, POSTERIOR POLAR, 1", "EPHA2"
"CATARACT, POSTERIOR POLAR, 3", "CHMP4B"
"CATARACT, POSTERIOR POLAR, 4", "PITX3"
"CATARACT, PULVERULENT, JUVENILE-ONSET", "MAF"
"CATARACT, SUTURAL, WITH PUNCTATE AND CERULEAN OPACITIES", "CRYBB2"
"CATARACT, ZONULAR PULVERULENT 1", "GJA8"
"CATARACT, ZONULAR PULVERULENT 3", "GJA3"
"CATARACT-MICROCORNEA SYNDROME", "GJA8"
"CAUDAL DUPLICATION ANOMALY ", "AXIN1"
"SACRAL DEFECT WITH ANTERIOR MENINGOCELE", "VANGL1"
"CEREBRAL CAVERNOUS MALFORMATIONS", "CCM1"
"CENANI-LENZ SYNDACTYLY SYNDROME", "LRP4"
"CENTRAL CORE DISEASE OF MUSCLE", "RYR1"
"CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL", "ASCL1"
"CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL", "BDNF"
"CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL", "EDN3"
"CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL", "RET"
"CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL", "GDNF"
"CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL", "PMX2B"
"CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 3", "CA8"
"ACERULOPLASMINEMIA", "CP"
"CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2", "WDR81"
"CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION", "CAMTA1"
"CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 1", "VLDLR"
"CEREBRAL AMYLOID ANGIOPATHY, CST3-RELATED", "CST3"
"CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED", "APP"
"CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY", "NOTCH3"
"CEREBRAL CAVERNOUS MALFORMATIONS 3", "PDCD10"
"CEREBRAL CAVERNOUS MALFORMATIONS 2", "C7orf22"
"CEREBRAL DYSGENESIS, NEUROPATHY, ICHTHYOSIS, AND PALMOPLANTAR KERATODERMA SYNDROME", "SNAP29"
"CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 1", "GAD1"
"CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2", "KANK1"
"CEREBROOCULOFACIOSKELETAL SYNDROME 1", "ERCC6"
"CEREBROOCULOFACIOSKELETAL SYNDROME 2", "ERCC2"
"CEREBROOCULOFACIOSKELETAL SYNDROME 4", "ERCC1"
"CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS", "CTC1"
"CEREBROTENDINOUS XANTHOMATOSIS", "CYP27A1"
"CEROID LIPOFUSCINOSIS, NEURONAL, 1", "PPT1"
"CEROID LIPOFUSCINOSIS, NEURONAL, 10", "CTSD"
"CEROID LIPOFUSCINOSIS, NEURONAL, 11", "GRN"
"CEROID LIPOFUSCINOSIS, NEURONAL, 2", "TPP1"
"CEROID LIPOFUSCINOSIS, NEURONAL, 3", "CLN3"
"CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT", "DNAJC5"
"CEROID LIPOFUSCINOSIS, NEURONAL, 5", "CLN5"
"CEROID LIPOFUSCINOSIS, NEURONAL, 6", "CLN6"
"CEROID LIPOFUSCINOSIS, NEURONAL, 7", "MFSD8"
"CEROID LIPOFUSCINOSIS, NEURONAL, 8", "CLN8"
"CEROID LIPOFUSCINOSIS, NEURONAL, 8, NORTHERN EPILEPSY VARIANT", "CLN8"
"CEROID LIPOFUSCINOSIS, NEURONAL, 4A, AUTOSOMAL RECESSIVE", "CLN6"
"CERVICAL CANCER ", "FGFR3"
"CHANARIN-DORFMAN SYNDROME", "ABHD5"
"CHAR SYNDROME", "TFAP2B"
"CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5", "PRPS1"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2O", "DYNC1H1"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F", "HSPB1"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K", "GDAP1"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L", "HSPB8"
"CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B", "DNM2"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE", "GDAP1"
"CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C", "YARS"
"CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE D", "MPZ"
"CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E", "INF2"
"VERTICAL TALUS, CONGENITAL", "HOXD10"
"CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A", "GDAP1"
"CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE B", "KARS"
"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1A", "PMP22"
"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1B", "MPZ"
"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C", "LITAF"
"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1D", "EGR2"
"CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS", "PMP22"
"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F", "NEFL"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1", "KIF1B"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A2", "MFN2"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B", "RAB7"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B1", "LMNA"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2", "MED25"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2D", "GARS"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E", "NEFL"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2I", "MPZ"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2J", "MPZ"
"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A", "GDAP1"
"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B1", "MTMR2"
"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2", "SBF2"
"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C", "SH3TC2"
"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D", "NDRG1"
"CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F", "PRX"
"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H", "FGD4"
"CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J", "FIG4"
"CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1", "GJB1"
"CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P", "LRSAM1"
"CHEDIAK-HIGASHI SYNDROME", "CHS1"
"CHERUBISM", "SH3BP2"
"CHILBLAIN LUPUS 2", "SAMHD1"
"CHILBLAIN LUPUS 1", "TREX1"
"DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL", "SLC26A3"
"CHOANAL ATRESIA AND LYMPHEDEMA ", "PTPN14"
"CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2", "ABCB11"
"CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1", "ATP8B1"
"CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1", "ATP8B1"
"CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3", "ABCB4"
"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1", "ATP8B1"
"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2", "ABCB11"
"CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3", "ABCB4"
"LYSOSOMAL ACID LIPASE DEFICIENCY", "LIPA"
"CHONDROCALCINOSIS 2", "ANKH"
"CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT", "EBP"
"CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE", "ARSE"
"RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2", "GNPAT"
"CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE", "IMPAD1"
"CHONDRODYSPLASIA, BLOMSTRAND TYPE", "PTHR1"
"CHONDRODYSPLASIA, GREBE TYPE", "GDF5"
"CHONDROSARCOMA ", "EXT1"
"CHONDROSARCOMA, EXTRASKELETAL MYXOID", "CSMF"
"CHOREA, BENIGN HEREDITARY", "NKX2-1"
"CHOREOACANTHOCYTOSIS", "VPS13A"
"CHOREOATHETOSIS, HYPOTHYROIDISM, AND NEONATAL RESPIRATORY DISTRESS", "NKX2-1"
"CHOROIDAL DYSTROPHY, CENTRAL AREOLAR 2", "PRPH2"
"PAPILLOMA OF CHOROID PLEXUS", "TP53"
"CHOROIDEREMIA", "CHM"
"CHONDRODYSPLASIA, ACROMESOMELIC, WITH GENITAL ANOMALIES ", "BMPR1B"
"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE I", "NCF1"
"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE II", "NCF2"
"GRANULOMATOUS DISEASE, CHRONIC, X-LINKED", "CYBB"
"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE", "CYBA"
"CHUDLEY-MCCULLOUGH SYNDROME", "GPSM2"
"CHYLOMICRON RETENTION DISEASE", "SAR1B"
"CILIARY DYSKINESIA, PRIMARY, 1", "DNAI1"
"CILIARY DYSKINESIA, PRIMARY, 10", "KTU"
"CILIARY DYSKINESIA, PRIMARY, 11", "RSPH4A"
"CILIARY DYSKINESIA, PRIMARY, 12", "RSPH9"
"CILIARY DYSKINESIA, PRIMARY, 13", "LRRC50"
"CILIARY DYSKINESIA, PRIMARY, 14", "CCDC39"
"CILIARY DYSKINESIA, PRIMARY, 15", "CCDC40"
"CILIARY DYSKINESIA, PRIMARY, 16", "DNAL1"
"CILIARY DYSKINESIA, PRIMARY, 17", "CCDC103"
"CILIARY DYSKINESIA, PRIMARY, 18", "HEATR2"
"CILIARY DYSKINESIA, PRIMARY, 19", "LRRC6"
"CILIARY DYSKINESIA, PRIMARY, 2", "DNAAF3"
"CILIARY DYSKINESIA, PRIMARY, 3", "DNAH5"
"CILIARY DYSKINESIA, PRIMARY, 5", "HYDIN"
"CILIARY DYSKINESIA, PRIMARY, 6", "TXNDC3"
"CILIARY DYSKINESIA, PRIMARY, 7", "DNAH11"
"CILIARY DYSKINESIA, PRIMARY, 9", "DNAI2"
"NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS", "CIRH1A"
"CITRULLINEMIA, CLASSIC", "ASS1"
"CITRULLINEMIA, TYPE II, ADULT-ONSET", "SLC25A13"
"CITRULLINEMIA, TYPE II, NEONATAL-ONSET", "SLC25A13"
"CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME", "HVEC"
"CLEFT PALATE, ISOLATED", "SATB2"
"CLEFT PALATE, X-LINKED", "TBX22"
"CLEIDOCRANIAL DYSPLASIA", "RUNX2"
"DRUG METABOLISM, POOR, CYP2C19-RELATED", "CYP2C"
"CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY", "PITX1"
"COCKAYNE SYNDROME, TYPE A", "ERCC8"
"COCKAYNE SYNDROME, TYPE B", "ERCC6"
"COCOON SYNDROME", "CHUK"
"COENZYME Q10 DEFICIENCY, PRIMARY, 1", "COQ2"
"COENZYME Q10 DEFICIENCY, PRIMARY, 2", "PDSS1"
"COENZYME Q10 DEFICIENCY, PRIMARY, 3", "PDSS2"
"COENZYME Q10 DEFICIENCY, PRIMARY, 4", "CABC1"
"COENZYME Q10 DEFICIENCY, PRIMARY, 5", "COQ9"
"COENZYME Q10 DEFICIENCY, PRIMARY, 6", "COQ6"
"COFFIN-LOWRY SYNDROME", "RPS6KA3"
"COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA", "SCN8A"
"COHEN SYNDROME", "COH1"
"FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1", "NLRP3"
"COLD-INDUCED SWEATING SYNDROME 2", "CLCF1"
"COLD-INDUCED SWEATING SYNDROME 1", "CRLF1"
"COLOBOMA OF OPTIC NERVE", "PAX6"
"COLOBOMA, OCULAR", "PAX6"
"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7", "MLH3"
"COLORECTAL CANCER", "FGFR3"
"COLORECTAL CANCER", "AKT1"
"COLORECTAL CANCER", "NRAS"
"COLORECTAL CANCER", "ODC1"
"COLORECTAL CANCER", "CCND1"
"COLORECTAL CANCER", "PIK3CA"
"COLORECTAL CANCER", "PLA2G2A"
"COLORECTAL CANCER", "TP53"
"COLORECTAL CANCER", "PTPRJ"
"COLORECTAL CANCER", "EP300"
"COLORECTAL CANCER", "BUB1B"
"COLORECTAL CANCER", "TLR2"
"COLORECTAL CANCER", "TLR4"
"COLORECTAL CANCER", "AURKA"
"COLORECTAL CANCER", "BCL10"
"COLORECTAL CANCER", "AXIN2"
"COLORECTAL CANCER", "MLH3"
"COLORECTAL CANCER", "PDGFRL"
"COLORECTAL CANCER", "FLCN"
"COLORECTAL CANCER", "APC"
"COLORBLINDNESS, PARTIAL, DEUTAN SERIES", "OPN1MW"
"COLORBLINDNESS, PARTIAL, PROTAN SERIES", "OPN1LW"
"TRITANOPIA", "OPN1SW"
"PILOMATRIXOMA", "CTNNB1"
"PILOMATRIXOMA", "MUTYH"
"LYNCH SYNDROME I", "MSH2"
"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2", "MLH1"
"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4", "PMS2"
"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5", "MSH6"
"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6", "TGFBR2"
"COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8", "EPCAM"
"COMBINED SAPOSIN DEFICIENCY", "PSAP"
"COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS", "RAG1"
"COMBINED CELLULAR AND HUMORAL IMMUNE DEFECTS WITH GRANULOMAS", "RAG2"
"FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1", "LMAN1"
"HYPERLIPIDEMIA, FAMILIAL COMBINED", "LPL"
"COMBINED IMMUNODEFICIENCY, X-LINKED", "IL2RG"
"COMBINED MALONIC AND METHYLMALONIC ACIDURIA", "ACSF3"
"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 1", "GFM1"
"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10", "MTO1"
"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11", "RMND1"
"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 12", "EARS2"
"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13", "PNPT1"
"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14", "FARS2"
"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15", "MTFMT"
"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 2", "MRPS16"
"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 3", "TSFM"
"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4", "TUFM"
"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 5", "MRPS22"
"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6", "AIFM1"
"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 7", "C12orf65"
"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8", "AARS2"
"COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9", "MRPL3"
"COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF ", "C1NH"
"COMPLEMENT FACTOR D DEFICIENCY", "CFD"
"COMPLEMENT FACTOR H DEFICIENCY", "HF1"
"COMPLEMENT FACTOR I DEFICIENCY", "CFI"
"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFS1"
"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFV1"
"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFA1"
"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFV2"
"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFS4"
"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFS2"
"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFB3"
"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFS3"
"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFS6"
"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFAF1"
"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFAF2"
"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFAF4"
"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFAF5"
"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFA11"
"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NDUFAF3"
"MITOCHONDRIAL COMPLEX I DEFICIENCY", "NUBPL"
"MITOCHONDRIAL COMPLEX I DEFICIENCY", "FOXRED1"
"CONE DYSTROPHY 4", "PDE6C"
"CONE DYSTROPHY 3", "GUCA1A"
"CONE-ROD DYSTROPHY 10", "SEMA4A"
"CONE-ROD DYSTROPHY 11", "RAXL1"
"CONE-ROD DYSTROPHY 12", "PROM1"
"CONE-ROD DYSTROPHY 13", "RPGRIP1"
"CONE-ROD DYSTROPHY 15", "CDHR1"
"CONE-ROD DYSTROPHY 16", "C8orf37"
"CONE-ROD DYSTROPHY 3", "ABCA4"
"CONE-ROD DYSTROPHY 5", "PITPNM3"
"CONE-ROD DYSTROPHY 6", "GUCY2D"
"CONE-ROD DYSTROPHY 7", "RIMS1"
"CONE-ROD DYSTROPHY 9", "ADAM9"
"LEBER CONGENITAL AMAUROSIS 4", "AIPL1"
"CONE-ROD DYSTROPHY, X-LINKED, 3", "CACNA1F"
"CONE-ROD DYSTROPHY, X-LINKED, 1", "RPGR"
"CONE-ROD DYSTROPHY 2", "CRX"
"VAS DEFERENS, CONGENITAL BILATERAL APLASIA OF", "CFTR"
"CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY", "CTDP1"
"CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION", "SLC33A1"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIa", "MGAT2"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb", "GCS1"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc", "SLC35C1"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId", "B4GALT1"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe", "COG7"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf", "SLC35A1"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg", "COG1"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh", "COG8"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi", "COG5"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj", "COG4"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIk", "TMEM165"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl", "COG6"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia", "PMM2"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib", "MPI"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic", "ALG6"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id", "ALG3"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie", "DPM1"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE If", "MPDU1"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig", "ALG12"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih", "ALG8"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii", "ALG2"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ij", "DPAGT1"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik", "ALG1"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Il", "ALG9"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im", "TMEM15"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In", "RFT1"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Io", "DPM3"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ip", "ALG11"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq", "SRD5A3"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir", "DDOST"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Is", "ALG13"
"CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It", "PGM1"
"HETEROTAXY, VISCERAL, 1, X-LINKED", "ZIC3"
"CHROMOSOME 6q24-q25 DELETION SYNDROME ", "TAB2"
"COSTELLO SYNDROME", "HRAS"
"PLASMINOGEN DEFICIENCY, TYPE I", "PLG"
"CONOTRUNCAL HEART MALFORMATIONS", "NKX2-5"
"CONOTRUNCAL HEART MALFORMATIONS", "GATA6"
"CONOTRUNCAL HEART MALFORMATIONS", "TBX1"
"CONOTRUNCAL HEART MALFORMATIONS", "GDF1"
"CONOTRUNCAL HEART MALFORMATIONS", "CFC1"
"CONOTRUNCAL HEART MALFORMATIONS", "NKX2-6"
"ARTHROGRYPOSIS, DISTAL, TYPE 9", "FBN2"
"CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS", "PRRT2"
"COPROPORPHYRIA, HEREDITARY", "CPOX"
"CORNEA PLANA 2", "KERA"
"CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 2", "COL8A2"
"CORNEAL DYSTROPHY, AVELLINO TYPE", "TGFBI"
"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 1", "COL8A2"
"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4", "SLC4A11"
"CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 6", "ZEB1"
"CORNEAL DYSTROPHY, GROENOUW TYPE I", "TGFBI"
"CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE I", "TGFBI"
"CORNEAL DYSTROPHY OF BOWMAN LAYER, TYPE II", "TGFBI"
"CORNEAL DYSTROPHY, CONGENITAL STROMAL", "DCN"
"CORNEAL DYSTROPHY, CRYSTALLINE, OF SCHNYDER", "UBIAD1"
"CORNEAL DYSTROPHY, EPITHELIAL BASEMENT MEMBRANE", "TGFBI"
"CORNEAL DYSTROPHY, GELATINOUS DROP-LIKE", "TACSTD2"
"CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1", "VSX1"
"CORNEAL DYSTROPHY, LATTICE TYPE I", "TGFBI"
"CORNEAL DYSTROPHY, LATTICE TYPE IIIA", "TGFBI"
"CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 3", "ZEB1"
"CORNEAL ENDOTHELIAL DYSTROPHY 2, AUTOSOMAL RECESSIVE", "SLC4A11"
"CORNEAL DYSTROPHY AND PERCEPTIVE DEAFNESS", "SLC4A11"
"CORNEAL DYSTROPHY, FLECK", "PIKFYVE"
"CORNELIA DE LANGE SYNDROME 1", "NIPBL"
"CORNELIA DE LANGE SYNDROME 2", "DXS423E"
"CORNELIA DE LANGE SYNDROME 3", "CSPG6"
"CORNELIA DE LANGE SYNDROME 4", "RAD21"
"CORNELIA DE LANGE SYNDROME 5", "HDAC8"
"CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA", "IGBP1"
"CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED ", "L1CAM"
"CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS", "TUBB3"
"CORTICAL DYSPLASIA-FOCAL EPILEPSY SYNDROME", "CNTNAP2"
"CORTICAL MALFORMATIONS, OCCIPITAL", "LAMC3"
"CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY", "CBG"
"CORTISONE REDUCTASE DEFICIENCY 1", "H6PD"
"CORTISONE REDUCTASE DEFICIENCY 2", "HSD11B1"
"COUMARIN RESISTANCE", "CYP2A6"
"COUMARIN RESISTANCE", "F9"
"COUMARIN RESISTANCE", "CYP2C9"
"COUMARIN RESISTANCE", "VKORC1"
"COUSIN SYNDROME", "TBX15"
"COWDEN DISEASE", "PTEN"
"COWDEN-LIKE SYNDROME ", "SDHB"
"COWDEN-LIKE SYNDROME ", "SDHD"
"CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT", "SOST"
"CRANIOECTODERMAL DYSPLASIA 1", "IFT122"
"CRANIOECTODERMAL DYSPLASIA 2", "WDR35"
"CRANIOECTODERMAL DYSPLASIA 3", "IFT43"
"CRANIOECTODERMAL DYSPLASIA 4", "WDR19"
"CRANIOFACIAL ANOMALIES AND ANTERIOR SEGMENT DYSGENESIS SYNDROME", "VSX1"
"CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND MENTAL RETARDATION SYNDROME", "TMCO1"
"CRANIOFACIAL-DEAFNESS-HAND SYNDROME", "PAX3"
"CRANIOFRONTONASAL SYNDROME", "EFNB1"
"CRANIOLENTICULOSUTURAL DYSPLASIA", "SEC23A"
"CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT", "ANKH"
"HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1", "HPGD"
"CRANIOSYNOSTOSIS AND DENTAL ANOMALIES", "IL11RA"
"RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES", "CYP26B1"
"CRANIOSYNOSTOSIS, TYPE 1", "TWIST1"
"CRANIOSYNOSTOSIS, TYPE 2", "MSX2"
"CREATINE DEFICIENCY SYNDROME, X-LINKED", "SLC6A8"
"CREATINE PHOSPHOKINASE, ELEVATED SERUM", "CAV3"
"CREUTZFELDT-JAKOB DISEASE", "PRNP"
"CREUTZFELDT-JAKOB DISEASE", "HLA-DQB1"
"CRIGLER-NAJJAR SYNDROME, TYPE I", "UGT1A1"
"CRIGLER-NAJJAR SYNDROME, TYPE II", "UGT1A1"
"CRISPONI SYNDROME", "CRLF1"
"CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS", "FGFR3"
"CROUZON SYNDROME", "FGFR2"
"CRYPTORCHIDISM, UNILATERAL OR BILATERAL", "INSL3"
"CRYPTORCHIDISM, UNILATERAL OR BILATERAL", "LGR8"
"CURRARINO SYNDROME", "MNX1"
"CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL", "ATR"
"CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL, AND URINARY ABNORMALITIES", "LTBP4"
"CUTIS LAXA, AUTOSOMAL DOMINANT 1", "ELN"
"CUTIS LAXA, AUTOSOMAL DOMINANT 2", "FBLN5"
"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA", "FBLN5"
"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB", "EFEMP2"
"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA", "ATP6V0A2"
"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB", "PYCR1"
"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA", "ALDH18A1"
"CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB", "PYCR1"
"CYANOSIS, TRANSIENT NEONATAL", "HBG2"
"CYLINDROMATOSIS, FAMILIAL", "CYLD"
"CYSTATHIONINURIA", "CTH"
"CYSTIC FIBROSIS", "TGFB1"
"CYSTIC FIBROSIS", "CFTR"
"CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPE", "CTNS"
"CYSTINOSIS, NEPHROPATHIC", "CTNS"
"CYSTINOSIS, ADULT NONNEPHROPATHIC", "CTNS"
"CYSTINURIA", "SLC3A1"
"CYSTINURIA", "SLC7A9"
"MITOCHONDRIAL COMPLEX IV DEFICIENCY", "COX6B1"
"MITOCHONDRIAL COMPLEX IV DEFICIENCY", "FASTKD2"
"MITOCHONDRIAL COMPLEX IV DEFICIENCY", "C2orf64"
"MITOCHONDRIAL COMPLEX IV DEFICIENCY", "C12orf62"
"D-2-HYDROXYGLUTARIC ACIDURIA 2", "IDH2"
"D-2-HYDROXYGLUTARIC ACIDURIA 1", "D2HGDH"
"D-BIFUNCTIONAL PROTEIN DEFICIENCY", "HSD17B4"
"D-GLYCERIC ACIDURIA", "GLYCTK"
"DANON DISEASE", "LAMP2"
"DARIER-WHITE DISEASE", "ATP2A2"
"DE SANCTIS-CACCHIONE SYNDROME ", "ERCC6"
"DEAFNESS, X-LINKED 1", "PRPS1"
"DEAFNESS, X-LINKED 2", "POU3F4"
"DEAFNESS, X-LINKED 4", "SMPX"
"DEAFNESS, AUTOSOMAL DOMINANT 1", "DIAPH1"
"DEAFNESS, AUTOSOMAL DOMINANT 10", "EYA4"
"DEAFNESS, AUTOSOMAL DOMINANT 11", "MYO7A"
"DEAFNESS, AUTOSOMAL DOMINANT 13", "COL11A2"
"DEAFNESS, AUTOSOMAL DOMINANT 15", "POU4F3"
"DEAFNESS, AUTOSOMAL DOMINANT 17", "MYH9"
"DEAFNESS, AUTOSOMAL DOMINANT 20", "ACTG1"
"DEAFNESS, AUTOSOMAL DOMINANT 22", "MYO6"
"DEAFNESS, AUTOSOMAL DOMINANT 23", "SIX1"
"DEAFNESS, AUTOSOMAL DOMINANT 25", "SLC17A8"
"DEAFNESS, AUTOSOMAL DOMINANT 28", "GRHL2"
"DEAFNESS, AUTOSOMAL DOMINANT 2A", "KCNQ4"
"DEAFNESS, AUTOSOMAL DOMINANT 2B", "GJB3"
"DEAFNESS, AUTOSOMAL DOMINANT 36", "TMC1"
"DEAFNESS, AUTOSOMAL DOMINANT 39, WITH DENTINOGENESIS IMPERFECTA 1", "DSPP"
"DEAFNESS, AUTOSOMAL DOMINANT 3A", "GJB2"
"DEAFNESS, AUTOSOMAL DOMINANT 3B", "GJB6"
"DEAFNESS, AUTOSOMAL DOMINANT 44", "CCDC50"
"DEAFNESS, AUTOSOMAL DOMINANT 48", "MYO1A"
"DEAFNESS, AUTOSOMAL DOMINANT 4A", "MYH14"
"DEAFNESS, AUTOSOMAL DOMINANT 4B", "CEACAM16"
"DEAFNESS, AUTOSOMAL DOMINANT 5", "DFNA5"
"DEAFNESS, AUTOSOMAL DOMINANT 50", "MIR96"
"DEAFNESS, AUTOSOMAL DOMINANT 6", "WFS1"
"DEAFNESS, AUTOSOMAL DOMINANT 64", "SMAC"
"DEAFNESS, AUTOSOMAL DOMINANT 12", "TECTA"
"DEAFNESS, AUTOSOMAL DOMINANT 9", "COCH"
"DEAFNESS, AUTOSOMAL RECESSIVE 10", "TMPRSS3"
"DEAFNESS, AUTOSOMAL RECESSIVE 12", "ATP2B2"
"DEAFNESS, AUTOSOMAL RECESSIVE 12", "CDH23"
"DEAFNESS, AUTOSOMAL RECESSIVE 15", "GIPC3"
"DEAFNESS, AUTOSOMAL RECESSIVE 16", "STRC"
"DEAFNESS, AUTOSOMAL RECESSIVE 18A", "USH1C"
"DEAFNESS, AUTOSOMAL RECESSIVE 18B", "OTOG"
"DEAFNESS, AUTOSOMAL RECESSIVE 1A", "GJB2"
"DEAFNESS, AUTOSOMAL RECESSIVE 1A", "GJB3"
"DEAFNESS, AUTOSOMAL RECESSIVE 1A", "GJB6"
"DEAFNESS, AUTOSOMAL RECESSIVE 1B", "GJB6"
"DEAFNESS, AUTOSOMAL RECESSIVE 2", "MYO7A"
"DEAFNESS, AUTOSOMAL RECESSIVE 21", "TECTA"
"DEAFNESS, AUTOSOMAL RECESSIVE 22", "OTOA"
"DEAFNESS, AUTOSOMAL RECESSIVE 23", "PCDH15"
"DEAFNESS, AUTOSOMAL RECESSIVE 24", "RDX"
"DEAFNESS, AUTOSOMAL RECESSIVE 25", "GRXCR1"
"DEAFNESS, AUTOSOMAL RECESSIVE 28", "TRIOBP"
"DEAFNESS, AUTOSOMAL RECESSIVE 29", "CLDN14"
"DEAFNESS, AUTOSOMAL RECESSIVE 3", "MYO15A"
"DEAFNESS, AUTOSOMAL RECESSIVE 30", "MYO3A"
"DEAFNESS, AUTOSOMAL RECESSIVE 31", "WHRN"
"DEAFNESS, AUTOSOMAL RECESSIVE 35", "ESRRB"
"DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT", "ESPN"
"DEAFNESS, AUTOSOMAL RECESSIVE 37", "MYO6"
"DEAFNESS, AUTOSOMAL RECESSIVE 39", "HGF"
"DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT", "FOXI1"
"DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT", "KCNJ10"
"DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT", "SLC26A4"
"DEAFNESS, AUTOSOMAL RECESSIVE 42", "ILDR1"
"DEAFNESS, AUTOSOMAL RECESSIVE 48", "CIB2"
"DEAFNESS, AUTOSOMAL RECESSIVE 49", "MARVELD2"
"DEAFNESS, AUTOSOMAL RECESSIVE 53", "COL11A2"
"DEAFNESS, AUTOSOMAL RECESSIVE 59", "PJVK"
"DEAFNESS, AUTOSOMAL RECESSIVE 6", "TMIE"
"DEAFNESS, AUTOSOMAL RECESSIVE 61", "SLC26A5"
"DEAFNESS, AUTOSOMAL RECESSIVE 63", "LRTOMT"
"DEAFNESS, AUTOSOMAL RECESSIVE 67", "LHFPL5"
"DEAFNESS, AUTOSOMAL RECESSIVE 7", "TMC1"
"DEAFNESS, AUTOSOMAL RECESSIVE 70", "PNPT1"
"DEAFNESS, AUTOSOMAL RECESSIVE 74", "MSRB3"
"DEAFNESS, AUTOSOMAL RECESSIVE 77", "LOXHD1"
"DEAFNESS, AUTOSOMAL RECESSIVE 79", "TPRN"
"DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8", "TMPRSS3"
"DEAFNESS, AUTOSOMAL RECESSIVE 84A", "PTPRQ"
"DEAFNESS, AUTOSOMAL RECESSIVE 84B", "OTOGL"
"DEAFNESS, AUTOSOMAL RECESSIVE 91", "SERPINB6"
"DEAFNESS, AUTOSOMAL RECESSIVE 93", "CABP2"
"DEAFNESS, AUTOSOMAL RECESSIVE 98", "TSPEAR"
"DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA", "FGF3"
"HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS", "EGR2"
"HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS", "MPZ"
"HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS", "PMP22"
"HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS", "PRX"
"FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1", "HBB"
"FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1", "HBG1"
"FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1", "HBG2"
"DEMENTIA, LEWY BODY", "SNCA"
"DEMENTIA, LEWY BODY", "SNCB"
"DEMENTIA, LEWY BODY", "GBA"
"CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1", "ITM2B"
"CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 2", "ITM2B"
"FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED", "CHMP2B"
"FRONTOTEMPORAL DEMENTIA", "PSEN1"
"FRONTOTEMPORAL DEMENTIA", "MAPT"
"DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE DEFICIENCY", "GATA2"
"DENT DISEASE 2 ", "OCRL"
"DENT DISEASE 1", "CLCN5"
"DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY", "ATN1"
"DENTIN DYSPLASIA, TYPE I", "SMOC2"
"DENTIN DYSPLASIA, TYPE II", "DSPP"
"DENTINOGENESIS IMPERFECTA 1", "DSPP"
"DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III", "DSPP"
"DENYS-DRASH SYNDROME", "WT1"
"DERMATOPATHIA PIGMENTOSA RETICULARIS", "KRT14"
"DESBUQUOIS DYSPLASIA", "CANT1"
"DESMOID DISEASE, HEREDITARY", "APC"
"DESMOSTEROLOSIS ", "DHCR24"
"DIGEORGE SYNDROME", "TBX1"
"DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL", "AQP2"
"DIABETES INSIPIDUS, NEPHROGENIC, X-LINKED", "AVPR2"
"DIABETES INSIPIDUS, NEUROHYPOPHYSEAL", "AVP"
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2", "GCK"
"DIABETES MELLITUS, INSULIN-DEPENDENT, 2", "INS"
"DIABETES MELLITUS, INSULIN-DEPENDENT, 20", "HNF1A"
"DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS", "INSR"
"DIABETES MELLITUS, KETOSIS-PRONE", "PAX4"
"DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM", "GLIS3"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "GCGR"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "GCK"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "SLC2A4"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "GPD2"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "HNF1A"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "IRS1"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "LIPC"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "AKT2"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "PAX4"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "ENPP1"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "PTPN1"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "HNF1B"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "HNF4A"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "ABCC8"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "HMGA1"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "IPF1"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "IRS2"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "MTNR1B"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "KCNJ11"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "PPARG"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "NEUROD1"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "TCF7L2"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "MAPK8IP1"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "RETN"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "WFS1"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "IGF2BP2"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "SLC30A8"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT", "CDKAL1"
"DIABETES MELLITUS, PERMANENT NEONATAL", "GCK"
"DIABETES MELLITUS, PERMANENT NEONATAL", "INS"
"DIABETES MELLITUS, PERMANENT NEONATAL", "ABCC8"
"DIABETES MELLITUS, PERMANENT NEONATAL", "KCNJ11"
"PANCREATIC AND CEREBELLAR AGENESIS", "PTF1A"
"DIABETES MELLITUS, TRANSIENT NEONATAL, 2", "ABCC8"
"DIABETES MELLITUS, TRANSIENT NEONATAL, 1", "ZFP57"
"DIABETES MELLITUS, TRANSIENT NEONATAL, 3", "KCNJ11"
"DIAMOND-BLACKFAN ANEMIA", "RPS19"
"DIAMOND-BLACKFAN ANEMIA 10", "RPS26"
"DIAMOND-BLACKFAN ANEMIA 11", "RPL26"
"DIAMOND-BLACKFAN ANEMIA 4", "RPS17"
"DIAMOND-BLACKFAN ANEMIA 5", "RPL35A"
"DIAMOND-BLACKFAN ANEMIA 6", "RPL5"
"DIAMOND-BLACKFAN ANEMIA 7", "RPL11"
"DIAMOND-BLACKFAN ANEMIA 8", "RPS7"
"DIAMOND-BLACKFAN ANEMIA 9", "RPS10"
"DIAMOND-BLACKFAN ANEMIA 3", "RPS24"
"DIAPHANOSPONDYLODYSOSTOSIS", "BMPER"
"DIAPHRAGMATIC HERNIA 3", "ZFPM2"
"DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA", "MTAP"
"DIARRHEA 3, SECRETORY SODIUM, CONGENITAL", "SPINT2"
"DIARRHEA 4, MALABSORPTIVE, CONGENITAL", "NEUROG3"
"DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL", "EPCAM"
"DIARRHEA 6", "GUCY2C"
"DIASTROPHIC DYSPLASIA", "SLC26A2"
"DIGITAL CLUBBING, ISOLATED CONGENITAL", "HPGD"
"DIHYDROPYRIMIDINASE DEFICIENCY", "DPYS"
"CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR AND KERATODERMA", "DSP"
"DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY", "DMGDH"
"DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY", "POR"
"DONNAI-BARROW SYNDROME", "LRP2"
"DOPAMINE BETA-HYDROXYLASE DEFICIENCY, CONGENITAL", "DBH"
"DOWLING-DEGOS DISEASE", "KRT5"
"DOYNE HONEYCOMB RETINAL DYSTROPHY", "EFEMP1"
"DRAVET SYNDROME", "SCN1A"
"DRAVET SYNDROME", "SCN9A"
"DUANE RETRACTION SYNDROME 2", "CHN1"
"DUANE-RADIAL RAY SYNDROME", "SALL4"
"DUBIN-JOHNSON SYNDROME", "ABCC2"
"MUSCULAR DYSTROPHY, DUCHENNE TYPE", "DMD"
"NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE", "G6PC3"
"DYGGVE-MELCHIOR-CLAUSEN DISEASE", "DYM"
"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III", "IKBKAP"
"DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1", "ADAR"
"DYSKERATOSIS CONGENITA, X-LINKED", "DKC1"
"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1", "TERC"
"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 2", "TERT"
"DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3", "TINF2"
"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 1", "NOLA3"
"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 2", "NOLA2"
"DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3", "WRAP53"
"DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA", "ADCY5"
"PROTHROMBIN DEFICIENCY, CONGENITAL", "F2"
"DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE", "HSPG2"
"DYSTONIA 16", "PRKRA"
"DYSTONIA 6, TORSION", "THAP1"
"DYSTONIA 9", "SLC2A1"
"DYSTONIA, DOPA-RESPONSIVE", "GCH1"
"DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY", "SPR"
"DYSTONIA, JUVENILE-ONSET ", "ACTB"
"MYOCLONIC DYSTONIA", "DRD2"
"MYOCLONIC DYSTONIA", "SGCE"
"DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT", "DYT1"
"DYSTONIA 12", "ATP1A3"
"DYSTONIA 3, TORSION, X-LINKED", "TAF1"
"EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE", "COL7A1"
"EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE", "MMP1"
"EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALIZED ABSENCE OF SKIN AND DEFORMITY OF NAILS", "COL7A1"
"EDICT SYNDROME", "MIR184"
"ABDOMINAL MUSCLES, ABSENCE OF, WITH URINARY TRACT ABNORMALITY AND CRYPTORCHIDISM", "CHRM3"
"ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED", "ED1"
"ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT", "EDAR"
"ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE", "EDAR"
"ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT", "EDARADD"
"ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE", "EDARADD"
"CLOUSTON SYNDROME", "GJB6"
"WITKOP SYNDROME", "MSX1"
"ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE", "KRT85"
"ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE", "HOXC13"
"ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT ", "NFKBIA"
"EEM SYNDROME", "CDH3"
"ECTODERMAL DYSPLASIA, HYPOHIDROTIC, WITH IMMUNE DEFICIENCY", "IKBKG"
"ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1", "PVRL4"
"ECTODERMAL DYSPLASIA/SKIN FRAGILITY SYNDROME", "PKP1"
"ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNODEFICIENCY, OSTEOPETROSIS, AND LYMPHEDEMA", "IKBKG"
"ECTOPIA LENTIS, ISOLATED, AUTOSOMAL DOMINANT", "FBN1"
"ECTOPIA LENTIS, ISOLATED, AUTOSOMAL RECESSIVE", "ADAMTSL4"
"ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3", "TP63"
"EFAVIRENZ, POOR METABOLISM OF", "CYP2B6"
"EHLERS-DANLOS SYNDROME WITH PROGRESSIVE KYPHOSCOLIOSIS, MYOPATHY, AND HEARING LOSS", "FKBP14"
"EHLERS-DANLOS SYNDROME, TYPE III", "COL3A1"
"EHLERS-DANLOS SYNDROME, TYPE III", "TNXB"
"EHLERS-DANLOS-LIKE SYNDROME DUE TO TENASCIN-X DEFICIENCY", "TNXB"
"EHLERS-DANLOS SYNDROME, AUTOSOMAL RECESSIVE, CARDIAC VALVULAR FORM ", "COL1A2"
"EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE", "CHST14"
"EHLERS-DANLOS SYNDROME, PROGEROID FORM", "B4GALT7"
"EHLERS-DANLOS SYNDROME, TYPE I", "COL1A1"
"EHLERS-DANLOS SYNDROME, TYPE I", "COL5A2"
"EHLERS-DANLOS SYNDROME, TYPE I", "COL5A1"
"EHLERS-DANLOS SYNDROME, TYPE II", "COL5A1"
"EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT", "COL3A1"
"EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT", "COL1A1"
"EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL DOMINANT", "COL1A2"
"EHLERS-DANLOS SYNDROME, TYPE VII, AUTOSOMAL RECESSIVE", "ADAMTS2"
"EIKEN SKELETAL DYSPLASIA", "PTHR1"
"ELLIPTOCYTOSIS 1", "EPB41"
"ELLIPTOCYTOSIS 2", "SPTA1"
"ELLIS-VAN CREVELD SYNDROME", "EVC"
"ELLIS-VAN CREVELD SYNDROME", "LBN"
"LYMPHEDEMA, PRIMARY, WITH MYELODYSPLASIA", "GATA2"
"EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED", "EMD"
"EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT", "LMNA"
"EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT", "SYNE1"
"EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT", "SYNE2"
"MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY", "FHL1"
"ALPHA-1-ANTITRYPSIN DEFICIENCY ", "SERPINA1"
"ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION", "DNM1L"
"ENCEPHALOPATHY, FAMILIAL, WITH NEUROSERPIN INCLUSION BODIES", "SERPINI1"
"ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS ", "MECP2"
"ENDOCRINE-CEREBROOSTEODYSPLASIA", "ICK"
"ENDOMETRIAL CANCER ", "CDH1"
"ENDOMETRIAL CANCER ", "MSH6"
"ENDOMETRIAL CANCER ", "PTEN"
"ENDOMETRIAL CANCER ", "MLH3"
"ENDPLATE ACETYLCHOLINESTERASE DEFICIENCY", "COLQ"
"ENHANCED S-CONE SYNDROME", "NR2E3"
"ENTEROKINASE DEFICIENCY", "PRSS7"
"PEROXIDASE AND PHOSPHOLIPID DEFICIENCY IN EOSINOPHILS", "EPX"
"EPIDERMODYSPLASIA VERRUCIFORMIS", "TMC6"
"EPIDERMODYSPLASIA VERRUCIFORMIS", "TMC8"
"EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT", "COL7A1"
"EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED", "ITGB4"
"EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED", "KRT5"
"EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED", "KRT14"
"EPIDERMOLYSIS BULLOSA PRURIGINOSA", "COL7A1"
"EPIDERMOLYSIS BULLOSA SIMPLEX WITH MIGRATORY CIRCINATE ERYTHEMA ", "KRT5"
"EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION", "KRT5"
"EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA", "PLEC1"
"EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE", "KRT5"
"EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE", "KRT14"
"EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED", "KRT5"
"EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED", "KRT14"
"EPIDERMOLYSIS BULLOSA SIMPLEX, OGNA TYPE", "PLEC1"
"EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE ", "KRT14"
"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE", "COL17A1"
"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE", "ITGB4"
"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE", "LAMC2"
"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE", "LAMB3"
"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, NON-HERLITZ TYPE", "LAMA3"
"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE", "LAMC2"
"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE", "LAMB3"
"EPIDERMOLYSIS BULLOSA, JUNCTIONAL, HERLITZ TYPE", "LAMA3"
"EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA", "ITGA6"
"EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA", "ITGB4"
"EPIDERMOLYSIS BULLOSA, LETHAL ACANTHOLYTIC", "DSP"
"EPIDERMOLYSIS BULLOSA DYSTROPHICA, PRETIBIAL", "COL7A1"
"EPIDERMOLYTIC HYPERKERATOSIS", "KRT1"
"EPIDERMOLYTIC HYPERKERATOSIS", "KRT10"
"PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC", "KRT1"
"PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC", "KRT16"
"PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC", "KRT9"
"EPILEPSY WITH NEURODEVELOPMENTAL DEFECTS", "GRIN2A"
"EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS ", "SYN1"
"EPILEPSY, FAMILIAL TEMPORAL LOBE, 1", "LGI1"
"EPILEPSY, FAMILIAL TEMPORAL LOBE, 5", "CPA6"
"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1", "SCN1B"
"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2", "SCN1A"
"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3", "GABRG2"
"GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 7", "SCN9A"
"EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1", "CHRNA4"
"EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3", "CHRNB2"
"EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 4", "CHRNA2"
"MYOCLONIC EPILEPSY OF UNVERRICHT AND LUNDBORG", "CSTB"
"EPILEPSY, PROGRESSIVE MYOCLONIC 1B", "PRICKLE1"
"MYOCLONIC EPILEPSY OF LAFORA", "EPM2A"
"MYOCLONIC EPILEPSY OF LAFORA", "NHLRC1"
"EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS", "KCTD7"
"EPILEPSY, PROGRESSIVE MYOCLONIC 4, WITH OR WITHOUT RENAL FAILURE", "SCARB2"
"EPILEPSY, PROGRESSIVE MYOCLONIC 5", "PRICKLE2"
"EPILEPSY, PROGRESSIVE MYOCLONIC 6", "GOSR2"
"EPILEPSY, PYRIDOXINE-DEPENDENT", "ALDH7A1"
"EPILEPTIC ENCEPHALOPATHY, LENNOX-GASTAUT TYPE", "MAPK10"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1", "ARX"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10", "PNKP"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11", "SCN2A"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 12", "PLCB1"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13", "SCN8A"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 14", "KCNT1"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2", "CDKL5"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3", "SLC25A22"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 5", "SPTAN1"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7", "KCNQ2"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8", "ARHGEF9"
"EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 9", "PCDH19"
"EPIPHYSEAL DYSPLASIA, MULTIPLE, 1", "COMP"
"EPIPHYSEAL DYSPLASIA, MULTIPLE, 2", "COL9A2"
"EPIPHYSEAL DYSPLASIA, MULTIPLE, 3", "COL9A3"
"EPIPHYSEAL DYSPLASIA, MULTIPLE, 4", "SLC26A2"
"EPIPHYSEAL DYSPLASIA, MULTIPLE, 5", "MATN3"
"EPIPHYSEAL DYSPLASIA, MULTIPLE, 6", "COL9A1"
"EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS", "COL2A1"
"EPISODIC ATAXIA, TYPE 2", "CACNA1A"
"EPISODIC ATAXIA, TYPE 5", "CACNB4"
"EPISODIC ATAXIA, TYPE 6", "SLC1A3"
"EPISODIC ATAXIA, TYPE 1", "KCNA1"
"EPISODIC KINESIGENIC DYSKINESIA 1", "PRRT2"
"EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY", "TMLHE"
"EPSTEIN SYNDROME", "MYH9"
"ERYTHERMALGIA, PRIMARY", "SCN9A"
"ERYTHROCYTE LACTATE TRANSPORTER DEFECT", "SLC16A1"
"BISPHOSPHOGLYCERATE MUTASE DEFICIENCY", "BPGM"
"ERYTHROCYTOSIS, FAMILIAL, 2", "VHL"
"ERYTHROCYTOSIS, FAMILIAL, 3", "EGLN1"
"ERYTHROCYTOSIS, FAMILIAL, 4", "EPAS1"
"ERYTHROCYTOSIS, FAMILIAL, 1", "EPOR"
"ERYTHROCYTOSIS, FAMILIAL, 1", "JAK2"
"ERYTHROCYTOSIS, FAMILIAL, 1", "SH2B3"
"ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA", "GJB3"
"ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA", "GJB4"
"MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT", "CHRNG"
"ESOPHAGEAL CANCER", "TGFBR2"
"ESOPHAGEAL CANCER", "RNF6"
"ESOPHAGEAL CANCER", "WWOX"
"ESOPHAGEAL CANCER", "LZTS1"
"ENCEPHALOPATHY, ETHYLMALONIC", "ETHE1"
"EWING SARCOMA", "EWSR1"
"EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE", "CSTA"
"EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS ", "COX4I2"
"EXOSTOSES, MULTIPLE, TYPE I", "EXT1"
"EXOSTOSES, MULTIPLE, TYPE II", "EXT2"
"EXUDATIVE VITREORETINOPATHY 4", "LRP5"
"EXUDATIVE VITREORETINOPATHY 5", "TSPAN12"
"EXUDATIVE VITREORETINOPATHY 1", "FZD4"
"EXUDATIVE VITREORETINOPATHY 2, X-LINKED", "NDP"
"FG SYNDROME 2", "FLNA"
"FG SYNDROME 4", "CASK"
"FABRY DISEASE", "GLA"
"FACIAL CLEFTING, OBLIQUE, 1", "SPECC1L"
"FACIAL PARESIS, HEREDITARY CONGENITAL, 3", "HOXB1"
"FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 2", "MCFD2"
"FACTOR V DEFICIENCY", "F5"
"FACTOR VII DEFICIENCY", "F7"
"FACTOR X DEFICIENCY", "F10"
"FACTOR XI DEFICIENCY", "F11"
"FACTOR XII DEFICIENCY", "F12"
"FACTOR XIII, A SUBUNIT, DEFICIENCY OF ", "F13A1"
"FACTOR XIII, B SUBUNIT, DEFICIENCY OF ", "F13B"
"FAILURE OF TOOTH ERUPTION, PRIMARY", "PTHR1"
"FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT", "MEFV"
"FAMILIAL MEDITERRANEAN FEVER", "MEFV"
"FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2", "NALP12"
"FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 3", "PLCG2"
"FANCONI ANEMIA, COMPLEMENTATION GROUP O", "RAD51C"
"FANCONI ANEMIA, COMPLEMENTATION GROUP A", "FANCA"
"FANCONI ANEMIA, COMPLEMENTATION GROUP B", "FAAP95"
"FANCONI ANEMIA, COMPLEMENTATION GROUP C", "FANCC"
"FANCONI ANEMIA, COMPLEMENTATION GROUP D1", "BRCA2"
"FANCONI ANEMIA, COMPLEMENTATION GROUP D2", "FANCD2"
"FANCONI ANEMIA, COMPLEMENTATION GROUP E", "FANCE"
"FANCONI ANEMIA, COMPLEMENTATION GROUP F", "FANCF"
"FANCONI ANEMIA, COMPLEMENTATION GROUP G", "XRCC9"
"FANCONI ANEMIA, COMPLEMENTATION GROUP I", "FANCI"
"FANCONI ANEMIA, COMPLEMENTATION GROUP J", "BRIP1"
"FANCONI ANEMIA, COMPLEMENTATION GROUP L", "PHF9"
"FANCONI ANEMIA, COMPLEMENTATION GROUP M", "FANCM"
"FANCONI ANEMIA, COMPLEMENTATION GROUP N", "PALB2"
"FANCONI ANEMIA, COMPLEMENTATION GROUP P", "SLX4"
"FANCONI RENOTUBULAR SYNDROME 2", "SLC34A1"
"FANCONI-BICKEL SYNDROME", "SLC2A2"
"FARBER LIPOGRANULOMATOSIS", "ASAH1"
"LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY", "HADHA"
"FAZIO-LONDE DISEASE", "SLC52A3"
"FEBRILE SEIZURES, FAMILIAL, 11", "CPA6"
"FEBRILE SEIZURES, FAMILIAL, 4", "GPR98"
"FECHTNER SYNDROME", "MYH9"
"FEINGOLD SYNDROME 2", "MIR17HG"
"FEINGOLD SYNDROME 1", "MYCN"
"FERTILE EUNUCH SYNDROME ", "GNRHR"
"FETAL AKINESIA DEFORMATION SEQUENCE", "RAPSN"
"FETAL AKINESIA DEFORMATION SEQUENCE", "DOK7"
"FIBROCHONDROGENESIS 2", "COL11A2"
"FIBROCHONDROGENESIS 1", "COL11A1"
"FIBRODYSPLASIA OSSIFICANS PROGRESSIVA", "ACVR1"
"FIBROMATOSIS, GINGIVAL, 1", "SOS1"
"FIBROMATOSIS, JUVENILE HYALINE", "ANTXR2"
"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1", "KIF21A"
"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2", "PHOX2A"
"FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT", "TUBB3"
"FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY", "GDF5"
"FISH-EYE DISEASE", "LCAT"
"FLECK RETINA, FAMILIAL BENIGN", "PLA2G5"
"PREKALLIKREIN DEFICIENCY", "KLKB1"
"FLOATING-HARBOR SYNDROME", "SRCAP"
"FOCAL CORTICAL DYSPLASIA OF TAYLOR", "TSC1"
"FOCAL DERMAL HYPOPLASIA", "PORCN"
"FOLATE MALABSORPTION, HEREDITARY ", "SLC46A1"
"FOLLICLE-STIMULATING HORMONE DEFICIENCY, ISOLATED ", "FSHB"
"FOVEAL HYPOPLASIA AND PRESENILE CATARACT SYNDROME", "PAX6"
"MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET", "PRPH2"
"MACULAR DYSTROPHY, VITELLIFORM, ADULT-ONSET", "BEST1"
"FRAGILE X MENTAL RETARDATION SYNDROME", "FMR1"
"FRAGILE X TREMOR/ATAXIA SYNDROME", "FMR1"
"FRANK-TER HAAR SYNDROME", "SH3PXD2B"
"FRASER SYNDROME", "FRAS1"
"FRASER SYNDROME", "FREM2"
"FRASIER SYNDROME ", "WT1"
"FRIEDREICH ATAXIA 1", "FXN"
"FRONTOMETAPHYSEAL DYSPLASIA", "FLNA"
"FRONTONASAL DYSPLASIA 1", "ALX3"
"FRONTONASAL DYSPLASIA 2", "ALX4"
"FRONTONASAL DYSPLASIA 3", "ALX1"
"FRUCTOSE INTOLERANCE, HEREDITARY", "ALDOB"
"FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY ", "FBP1"
"FUCOSIDOSIS", "FUCA1"
"FUCOSYLTRANSFERASE 6 DEFICIENCY ", "FUT6"
"FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY", "WNT7A"
"FUMARASE DEFICIENCY", "FH"
"FUNDUS ALBIPUNCTATUS", "PRPH2"
"FUNDUS ALBIPUNCTATUS", "RLBP1"
"FUNDUS ALBIPUNCTATUS", "RHO"
"FUNDUS ALBIPUNCTATUS", "RDH5"
"STARGARDT DISEASE 1", "ABCA4"
"STARGARDT DISEASE 1", "CNGB3"
"GABA-TRANSAMINASE DEFICIENCY ", "ABAT"
"GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY", "GAMT"
"GLUT1 DEFICIENCY SYNDROME 1", "SLC2A1"
"GLUT1 DEFICIENCY SYNDROME 2", "SLC2A1"
"GM1-GANGLIOSIDOSIS, TYPE I", "GLB1"
"GM1-GANGLIOSIDOSIS, TYPE II", "GLB1"
"GM1-GANGLIOSIDOSIS, TYPE III", "GLB1"
"GM2-GANGLIOSIDOSIS, AB VARIANT", "GM2A"
"TAY-SACHS DISEASE", "HEXA"
"GRACILE SYNDROME", "BCS1L"
"GALACTOKINASE DEFICIENCY", "GALK1"
"GALACTOSE EPIMERASE DEFICIENCY", "GALE"
"GALACTOSEMIA", "GALT"
"GALACTOSIALIDOSIS", "CTSA"
"GALLBLADDER DISEASE 1", "ABCB4"
"GALLBLADDER DISEASE 4", "ABCG8"
"GASTRIC CANCER, HEREDITARY DIFFUSE", "IRF1"
"GASTRIC CANCER, HEREDITARY DIFFUSE", "IL1RN"
"GASTRIC CANCER, HEREDITARY DIFFUSE", "IL1B"
"GASTRIC CANCER, HEREDITARY DIFFUSE", "ERBB2"
"GASTRIC CANCER, HEREDITARY DIFFUSE", "PIK3CA"
"GASTRIC CANCER, HEREDITARY DIFFUSE", "FGFR2"
"GASTRIC CANCER, HEREDITARY DIFFUSE", "KRAS"
"GASTRIC CANCER, HEREDITARY DIFFUSE", "CDH1"
"GASTRIC CANCER, HEREDITARY DIFFUSE", "CASP10"
"GASTRIC CANCER, HEREDITARY DIFFUSE", "KLF6"
"GASTRIC CANCER, HEREDITARY DIFFUSE", "MUTYH"
"GASTRIC CANCER", "APC"
"GASTROINTESTINAL STROMAL TUMOR", "KIT"
"GASTROINTESTINAL STROMAL TUMOR", "PDGFRA"
"GASTROINTESTINAL STROMAL TUMOR", "SDHB"
"GASTROINTESTINAL STROMAL TUMOR", "SDHC"
"GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY ", "PSAP"
"GAUCHER DISEASE, PERINATAL LETHAL", "GBA"
"GAUCHER DISEASE, TYPE I", "GBA"
"GAUCHER DISEASE, TYPE II", "GBA"
"GAUCHER DISEASE, TYPE III", "GBA"
"GAUCHER DISEASE, TYPE IIIC ", "GBA"
"GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS", "ROBO3"
"GELEOPHYSIC DYSPLASIA 1", "ADAMTSL2"
"GELEOPHYSIC DYSPLASIA 2", "FBN1"
"GENERALIZED EPILEPSY AND PAROXYSMAL DYSKINESIA", "KCNMA1"
"GENITOPATELLAR SYNDROME", "KAT6B"
"TESTICULAR GERM CELL TUMOR", "FGFR3"
"TESTICULAR GERM CELL TUMOR", "KIT"
"TESTICULAR GERM CELL TUMOR", "STK11"
"TESTICULAR GERM CELL TUMOR", "BCL10"
"GERODERMA OSTEODYSPLASTICUM", "GORAB"
"GERSTMANN-STRAUSSLER DISEASE", "PRNP"
"GHOSAL HEMATODIAPHYSEAL DYSPLASIA", "TBXAS1"
"GIANT AXONAL NEUROPATHY 1", "GAN"
"ANIRIDIA, CEREBELLAR ATAXIA, AND MENTAL RETARDATION", "PAX6"
"GITELMAN SYNDROME", "SLC12A3"
"GLANZMANN THROMBASTHENIA", "ITGB3"
"GLANZMANN THROMBASTHENIA", "ITGA2B"
"GLAUCOMA 1, OPEN ANGLE, O", "NTF4 "
"GLAUCOMA, PRIMARY OPEN ANGLE", "OPTN"
"GLAUCOMA 1, OPEN ANGLE, G", "WDR36"
"GLAUCOMA 1, OPEN ANGLE, A", "MYOC"
"GLAUCOMA 3, PRIMARY CONGENITAL, D", "LTBP2"
"GLAUCOMA 3, PRIMARY CONGENITAL, A", "CYP1B1"
"GLIOMA SUSCEPTIBILITY 1", "ERBB2"
"GLOMERULOCYSTIC KIDNEY DISEASE WITH HYPERURICEMIA AND ISOSTHENURIA ", "UMOD"
"GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 2", "FN1"
"FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1", "ACTN4"
"FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2", "TRPC6"
"FOCAL SEGMENTAL GLOMERULOSCLEROSIS 3, SUSCEPTIBILITY TO", "CD2AP"
"FOCAL SEGMENTAL GLOMERULOSCLEROSIS 5", "INF2"
"FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6", "MYO1E"
"GLOMUVENOUS MALFORMATIONS", "GLML"
"GLUCOCORTICOID DEFICIENCY 2", "MRAP"
"GLUCOCORTICOID DEFICIENCY 4", "NNT"
"GLUCOCORTICOID DEFICIENCY 1", "MC2R"
"GLUCOSE/GALACTOSE MALABSORPTION", "SLC5A1"
"FORMIMINOTRANSFERASE DEFICIENCY", "FTCD"
"GLUTAMINE DEFICIENCY, CONGENITAL", "GLUL"
"MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY", "ETFB"
"MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY", "ETFDH"
"MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY", "ETFA"
"GLUTARIC ACIDEMIA I", "GCDH"
"GLUTATHIONE SYNTHETASE DEFICIENCY", "GSS"
"HYPERGLYCEROLEMIA", "GK"
"GLYCINE N-METHYLTRANSFERASE DEFICIENCY", "GNMT"
"GLYCINE ENCEPHALOPATHY", "GLDC"
"GLYCINE ENCEPHALOPATHY", "AMT"
"GLYCINE ENCEPHALOPATHY", "GCSH"
"GLYCOGEN STORAGE DISEASE 0, MUSCLE", "GYS1"
"GLYCOGEN STORAGE DISEASE II", "GAA"
"GLYCOGEN STORAGE DISEASE III", "AGL"
"GLYCOGEN STORAGE DISEASE IV", "GBE1"
"GLYCOGEN STORAGE DISEASE IXc", "PHKG2"
"GLYCOGEN STORAGE DISEASE Ia", "G6PC"
"GLYCOGEN STORAGE DISEASE Ib", "SLC37A4"
"GLYCOGEN STORAGE DISEASE Ic", "SLC37A4"
"GLYCOGEN STORAGE DISEASE VI", "PYGL"
"GLYCOGEN STORAGE DISEASE VII", "PFKM"
"GLYCOGEN STORAGE DISEASE X", "PGAM2"
"GLYCOGEN STORAGE DISEASE XI", "LDHA"
"GLYCOGEN STORAGE DISEASE XII", "ALDOA"
"GLYCOGEN STORAGE DISEASE XIII", "ENO3"
"GLYCOGEN STORAGE DISEASE XIV", "PGM1"
"GLYCOGEN STORAGE DISEASE XV", "GYG1"
"GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL", "PRKAG2"
"GLYCOGEN STORAGE DISEASE 0, LIVER", "GYS2"
"GLYCOGEN STORAGE DISEASE IXa1", "PHKA2"
"GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY", "PIGM"
"GNATHODIAPHYSEAL DYSPLASIA", "ANO5"
"GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS", "DICER1"
"GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME", "KIAA1279"
"PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY", "PRPS1"
"GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE, TYPE III", "NCF4"
"GRAY PLATELET SYNDROME", "NBEAL2"
"GREIG CEPHALOPOLYSYNDACTYLY SYNDROME", "GLI3"
"GRISCELLI SYNDROME, TYPE 1", "MYO5A"
"GRISCELLI SYNDROME, TYPE 2", "RAB27A"
"GRISCELLI SYNDROME, TYPE 3", "MLPH"
"SEPTOOPTIC DYSPLASIA", "HESX1"
"ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IA", "GH1"
"ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB", "GHRHR"
"ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IB", "GH1"
"ISOLATED GROWTH HORMONE DEFICIENCY, TYPE II", "GH1"
"GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY", "STAT5B"
"INSULIN-LIKE GROWTH FACTOR I DEFICIENCY", "IGF1"
"GROWTH RETARDATION, DEVELOPMENTAL DELAY, COARSE FACIES, AND EARLY DEATH", "FTO"
"PREAXIAL DEFICIENCY, POSTAXIAL POLYDACTYLY, AND HYPOSPADIAS", "HOXA13"
"GYRATE ATROPHY OF CHOROID AND RETINA", "OAT"
"HYPOPREBETALIPOPROTEINEMIA, ACANTHOCYTOSIS, RETINITIS PIGMENTOSA, AND PALLIDAL DEGENERATION", "PANK2"
"HYPOALPHALIPOPROTEINEMIA, PRIMARY", "APOA1"
"HYPOALPHALIPOPROTEINEMIA, PRIMARY", "ABCA1"
"HYDROPS-ECTOPIC CALCIFICATION-MOTH-EATEN SKELETAL DYSPLASIA", "LBR"
"3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY", "HMGCL"
"3-HYDROXY-3-METHYLGLUTARYL-CoA SYNTHASE 2 DEFICIENCY", "HMGCS2"
"KELLEY-SEEGMILLER SYNDROME", "HPRT1"
"BENIGN CHRONIC PEMPHIGUS", "ATP2C1"
"HAIM-MUNK SYNDROME", "CTSC"
"HAJDU-CHENEY SYNDROME", "NOTCH2"
"HALLERMANN-STREIFF SYNDROME", "GJA1"
"HAMAMY SYNDROME", "IRX5"
"HAND-FOOT-UTERUS SYNDROME", "HOXA13"
"HARTNUP DISORDER", "SLC6A19"
"HAWKINSINURIA ", "HPD"
"ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE", "TP63"
"PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA", "SCN5A"
"HEART-HAND SYNDROME, SLOVENIAN TYPE ", "LMNA"
"HEINZ BODY ANEMIAS ", "HBA1"
"HEINZ BODY ANEMIAS ", "HBA2"
"HEINZ BODY ANEMIAS ", "HBB"
"HEMANGIOMA, CAPILLARY INFANTILE", "FLT4"
"HEMANGIOMA, CAPILLARY INFANTILE", "KDR"
"HEMANGIOMA, CAPILLARY INFANTILE", "ANTXR1"
"HEMATURIA, BENIGN FAMILIAL", "COL4A3"
"HEME OXYGENASE 1 DEFICIENCY", "HMOX1"
"HEMOCHROMATOSIS", "BMP2"
"HEMOCHROMATOSIS", "HFE"
"HEMOCHROMATOSIS, TYPE 2A", "HJV"
"HEMOCHROMATOSIS, TYPE 2B", "HAMP"
"HEMOCHROMATOSIS, TYPE 3", "TFR2"
"HEMOCHROMATOSIS, TYPE 4", "SLC40A1"
"HEMOGLOBIN H DISEASE", "HBA1"
"HEMOGLOBIN H DISEASE", "HBA2"
"ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO ", "AK1"
"GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO ", "GCLC"
"GLUTATHIONE SYNTHETASE DEFICIENCY OF ERYTHROCYTES, HEMOLYTIC ANEMIA DUE TO ", "GSS"
"HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY ", "HK1"
"HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY ", "GPI"
"HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2", "PRF1"
"HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3", "UNC13D"
"HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4", "STX11"
"HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5", "STXBP2"
"HEMOPHILIA A", "F8"
"HEMOPHILIA B", "F9"
"HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS ", "JAM3"
"HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME", "CCBE1"
"HEPATIC ADENOMAS, FAMILIAL", "HNF1A"
"HEPATIC LIPASE DEFICIENCY", "LIPC"
"HEPATIC VENOOCCLUSIVE DISEASE WITH IMMUNODEFICIENCY", "SP110"
"HEPATOCELLULAR CARCINOMA", "CTNNB1"
"HEPATOCELLULAR CARCINOMA", "MET"
"HEPATOCELLULAR CARCINOMA", "PIK3CA"
"HEPATOCELLULAR CARCINOMA", "TP53"
"HEPATOCELLULAR CARCINOMA", "CASP8"
"HEPATOCELLULAR CARCINOMA", "AXIN1"
"HEPATOCELLULAR CARCINOMA", "PDGFRL"
"HEPATOCELLULAR CARCINOMA", "APC"
"HEREDITARY MOTOR AND SENSORY NEUROPATHY VI", "MFN2"
"HEREDITARY MOTOR AND SENSORY NEUROPATHY, PROXIMAL TYPE", "TFG"
"HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC", "TRPV4"
"HERMANSKY-PUDLAK SYNDROME 1", "HPS1"
"HERMANSKY-PUDLAK SYNDROME 2", "AP3B1"
"HERMANSKY-PUDLAK SYNDROME 3", "HPS3"
"HERMANSKY-PUDLAK SYNDROME 4", "HPS4"
"HERMANSKY-PUDLAK SYNDROME 5", "HPS5"
"HERMANSKY-PUDLAK SYNDROME 6", "HPS6"
"HERMANSKY-PUDLAK SYNDROME 7", "DTNBP1"
"HERMANSKY-PUDLAK SYNDROME 8", "BLOC1S3"
"HERMANSKY-PUDLAK SYNDROME 9", "PLDN"
"HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1", "UNC93B1"
"HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2", "TLR3"
"HETEROTAXY, VISCERAL, 2, AUTOSOMAL", "CFC1"
"HETEROTAXY, VISCERAL, 4, AUTOSOMAL", "ACVR2B"
"HETEROTAXY, VISCERAL, 5, AUTOSOMAL", "NODAL"
"HETEROTAXY, VISCERAL, 6, AUTOSOMAL", "CCDC11"
"HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT", "FLNA"
"HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT", "FLNA"
"HIRSCHSPRUNG DISEASE, CARDIAC DEFECTS, AND AUTONOMIC DYSFUNCTION ", "ECE1"
"HISTIOCYTOMA, ANGIOMATOID FIBROUS ", "CREB1"
"HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME", "HJCD"
"HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME", "SLC29A3"
"LYMPHOMA, HODGKIN", "KLHDC8B"
"HOLOCARBOXYLASE SYNTHETASE DEFICIENCY", "HLCS"
"HOLOPROSENCEPHALY 11", "CDON"
"HOLOPROSENCEPHALY 2", "SIX3"
"HOLOPROSENCEPHALY 3", "SHH"
"HOLOPROSENCEPHALY 4", "TGIF"
"HOLOPROSENCEPHALY 5", "ZIC2"
"HOLOPROSENCEPHALY 7", "PTCH1"
"HOLOPROSENCEPHALY 9", "GLI2"
"HOLT-ORAM SYNDROME", "TBX5"
"HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE", "MTHFR"
"HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY", "CBS"
"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE", "C2orf25"
"HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblE COMPLEMENTATION TYPE", "MTRR"
"HOYERAAL-HREIDARSSON SYNDROME", "DKC1"
"HUNTINGTON DISEASE", "HTT"
"HUNTINGTON DISEASE-LIKE 1", "PRNP"
"HUNTINGTON DISEASE-LIKE 2", "JPH3"
"HUTCHINSON-GILFORD PROGERIA SYNDROME", "LMNA"
"HYALINOSIS, INFANTILE SYSTEMIC", "ANTXR2"
"HYDATIDIFORM MOLE, RECURRENT, 1", "NALP7"
"HYDATIDIFORM MOLE, RECURRENT, 2", "C6orf221"
"LISSENCEPHALY, X-LINKED, 2", "ARX"
"HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS", "L1CAM"
"HYDROLETHALUS SYNDROME 2", "KIF7"
"HYDROLETHALUS SYNDROME 1", "HYLS1"
"HYPER-IgD SYNDROME", "MVK"
"HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT", "STAT3"
"HYPER-IgE RECURRENT INFECTION SYNDROME, AUTOSOMAL RECESSIVE", "DOCK8"
"HYPERALDOSTERONISM, FAMILIAL, TYPE III", "KCNJ5"
"HYPERALPHALIPOPROTEINEMIA 2", "APOC3"
"HYPERALPHALIPOPROTEINEMIA 1", "CETP"
"HYPERBILIRUBINEMIA, ROTOR TYPE", "SLCO1B1"
"HYPERBILIRUBINEMIA, ROTOR TYPE", "SLCO1B3"
"HYPERBILIRUBINEMIA, TRANSIENT FAMILIAL NEONATAL", "UGT1A1"
"HYPERBILIVERDINEMIA", "BLVRA"
"HYPERCALCEMIA, INFANTILE", "CYP24A1"
"HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT", "BCMO1"
"HYPERCHLORHIDROSIS, ISOLATED ", "CA12"
"HYPERCHOLANEMIA, FAMILIAL", "EPHX1"
"HYPERCHOLANEMIA, FAMILIAL", "BAAT"
"HYPERCHOLANEMIA, FAMILIAL", "TJP2"
"HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B", "APOB"
"HYPERCHOLESTEROLEMIA, FAMILIAL", "APOA2"
"HYPERCHOLESTEROLEMIA, FAMILIAL", "EPHX2"
"HYPERCHOLESTEROLEMIA, FAMILIAL", "ABCA1"
"HYPERCHOLESTEROLEMIA, FAMILIAL", "ITIH4"
"HYPERCHOLESTEROLEMIA, FAMILIAL", "GHR"
"HYPERCHOLESTEROLEMIA, FAMILIAL", "GSBS"
"HYPERCHOLESTEROLEMIA, FAMILIAL", "LDLR"
"HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3", "PCSK9"
"HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE", "LDLRAP1"
"HYPERLIPOPROTEINEMIA, TYPE V", "APOA5"
"HYPEREKPLEXIA 2", "GLRB"
"HYPEREKPLEXIA 3", "SLC6A5"
"HYPEREKPLEXIA, HEREDITARY 1", "GLRA1"
"HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC", "PDGFRA"
"HYPERFERRITINEMIA-CATARACT SYNDROME", "FTL"
"HYPERGLYCINURIA", "SLC6A20"
"HYPERGLYCINURIA", "SLC36A2"
"HYPERGLYCINURIA", "SLC6A19"
"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1", "ABCC8"
"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2", "KCNJ11"
"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3", "GCK"
"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 4", "HADHSC"
"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 5", "INSR"
"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7", "SLC16A1"
"HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 6", "GLUD1"
"HYPERKALEMIC PERIODIC PARALYSIS", "SCN4A"
"APOLIPOPROTEIN C-II DEFICIENCY", "APOC2"
"HYPERLYSINEMIA", "AASS"
"HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS", "SLC30A10"
"HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY ", "ADK"
"HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY ", "AHCY"
"METHIONINE ADENOSYLTRANSFERASE DEFICIENCY", "MAT1A"
"HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME", "SLC25A15"
"HYPEROSTOSIS CORTICALIS GENERALISATA, BENIGN FORM OF WORTH, WITH TORUS PALATINUS", "LRP5"
"HYPEROXALURIA, PRIMARY, TYPE I", "AGXT"
"HYPEROXALURIA, PRIMARY, TYPE II", "GRHPR"
"HYPEROXALURIA, PRIMARY, TYPE III", "HOGA1"
"HYPERPARATHYROIDISM 1", "HRPT2"
"HYPERPARATHYROIDISM, NEONATAL SEVERE PRIMARY", "CASR"
"HYPERPARATHYROIDISM 2", "HRPT2"
"HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A", "PTS"
"HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B", "GCH1"
"HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C", "QDPR"
"HYPERPHENYLALANINEMIA, BH4-DEFICIENT, D", "PCBD"
"HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1", "PIGV"
"HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2", "PIGO"
"HYPERPIGMENTATION, FAMILIAL PROGRESSIVE, 2", "KITLG"
"HYPERPROLINEMIA, TYPE I", "PRODH"
"HYPERPROLINEMIA, TYPE II", "ALDH4A1"
"HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH SEVERE EXACERBATION IN PREGNANCY ", "NR3C2"
"HYPERTENSION, ESSENTIAL", "ADD1"
"HYPERTENSION, ESSENTIAL", "AGT"
"HYPERTENSION, ESSENTIAL", "AGTR1"
"HYPERTENSION, ESSENTIAL", "GNB3"
"HYPERTENSION, ESSENTIAL", "NOS3"
"HYPERTENSION, ESSENTIAL", "ECE1"
"HYPERTENSION, ESSENTIAL", "PTGIS"
"HYPERTENSION, ESSENTIAL", "CYP3A5"
"HYPERTHYROIDISM, FAMILIAL GESTATIONAL ", "TSHR"
"HYPERTHYROIDISM, NONAUTOIMMUNE", "TSHR"
"CANTU SYNDROME", "ABCC9"
"HYPERTRIGLYCERIDEMIA, TRANSIENT INFANTILE", "GPD1"
"HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2", "SLCO2A1"
"HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS", "SARS2"
"HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1", "UMOD"
"HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 2", "REN"
"CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY", "CYP11B2"
"CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY", "CYP11B2"
"HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2", "ANGPTL3"
"HYPOPARATHYROIDISM, FAMILIAL ISOLATED", "PTH"
"HYPOPARATHYROIDISM, FAMILIAL ISOLATED", "CASR"
"HYPOPARATHYROIDISM, FAMILIAL ISOLATED", "GCMB"
"HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I", "CASR"
"HYPOCHONDROPLASIA", "FGFR3"
"HYPOGLYCEMIA, LEUCINE-INDUCED", "ABCC8"
"HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA", "KAL1"
"HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA", "TAC3"
"HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA", "TACR3"
"HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA", "GNRH1"
"HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA", "KISS1"
"HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA", "SEMA3A"
"HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA", "FGFR1"
"HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA", "PROKR2"
"HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA", "PROK2"
"HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA", "CHD7"
"HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA", "FGF8"
"HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA", "GNRHR"
"HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA", "KISS1R"
"HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA", "NELF"
"HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA", "WDR11"
"HYPOINSULINEMIC HYPOGLYCEMIA WITH HEMIHYPERTROPHY", "AKT2"
"HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1", "CACNA1S"
"HYPOKALEMIC PERIODIC PARALYSIS, TYPE 2", "SCN4A"
"HYPOMAGNESEMIA 1, INTESTINAL", "TRPM6"
"HYPOMAGNESEMIA 3, RENAL", "CLDN16"
"HYPOMAGNESEMIA 4, RENAL", "EGF"
"HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT", "CLDN19"
"HYPOMAGNESEMIA 6, RENAL", "CNNM2"
"HYPOMAGNESEMIA 2, RENAL", "FXYD2"
"HYPOMYELINATION, GLOBAL CEREBRAL", "SLC25A12"
"HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE", "GATA3"
"HYPOPARATHYROIDISM-RETARDATION-DYSMORPHISM SYNDROME", "TBCE"
"HYPOPHOSPHATASIA, ADULT", "ALPL"
"HYPOPHOSPHATASIA, CHILDHOOD ", "ALPL"
"HYPOPHOSPHATASIA, INFANTILE", "ALPL"
"HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY", "SLC34A3"
"HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE ", "CLCN5"
"HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 1", "DMP1"
"HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT", "PHEX"
"HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT", "FGF23"
"HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2", "ENPP1"
"HYPOPLASTIC LEFT HEART SYNDROME 1", "GJA1"
"HYPOPLASTIC LEFT HEART SYNDROME 2", "NKX2-5"
"HYPOPROTEINEMIA, HYPERCATABOLIC ", "B2M"
"HYPOSPADIAS 1, X-LINKED", "AR"
"HYPOSPADIAS 2, X-LINKED", "MAMLD1"
"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4", "TSHB"
"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5", "NKX2-5"
"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2", "PAX8"
"HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6", "THRA"
"HYPOTRICHOSIS 8", "LPAR6"
"HYPOTRICHOSIS AND RECURRENT SKIN VESICLES ", "DSC3"
"HYPOTRICHOSIS 2", "CDSN"
"HYPOTRICHOSIS 3", "KRT74"
"HYPOTRICHOSIS 1", "APCDD1"
"HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY", "CDH3"
"HYPOTRICHOSIS 4", "HR"
"HYPOTRICHOSIS 7", "LIPH"
"HYPOTRICHOSIS 6", "DSG4"
"HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME", "SOX18"
"HYPOURICEMIA, RENAL, 2", "SLC2A9"
"HYPOURICEMIA, RENAL, 1", "SLC22A12"
"ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS", "GJB2"
"IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME", "MBTPS2"
"INTRAUTERINE GROWTH RETARDATION, METAPHYSEAL DYSPLASIA, ADRENAL HYPOPLASIA CONGENITA, AND GENITAL ANOMALIES", "CDKN1C"
"IRAK4 DEFICIENCY", "IRAK4"
"IVIC SYNDROME", "SALL4"
"ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1", "TGM1"
"ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1", "ALOX12B"
"ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL, NONBULLOUS, 1", "ALOXE3"
"ICHTHYOSIS, BULLOUS TYPE", "KRT2"
"ICHTHYOSIS HYSTRIX, CURTH-MACKLIN TYPE", "KRT1"
"ICHTHYOSIS PREMATURITY SYNDROME", "SLC27A4"
"ICHTHYOSIS VULGARIS", "FLG"
"ERYTHRODERMA, ICHTHYOSIFORM, CONGENITAL RETICULAR", "KRT10"
"ICHTHYOSIS WITH HYPOTRICHOSIS, AUTOSOMAL RECESSIVE", "ST14"
"ICHTHYOSIS, X-LINKED", "STS"
"ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE, NIPAL4-RELATED ", "NIPAL4"
"ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS", "KRT1"
"ICHTHYOSIS, CYCLIC, WITH EPIDERMOLYTIC HYPERKERATOSIS", "KRT10"
"ICHTHYOSIS CONGENITA, HARLEQUIN FETUS TYPE", "ABCA12"
"ICHTHYOSIS, LAMELLAR, 2", "ABCA12"
"ICHTHYOSIS, LAMELLAR, 3", "CYP4F22"
"ICHTHYOSIS, LAMELLAR, 4", "LIPN"
"ICHTHYOSIS, LAMELLAR, 1", "TGM1"
"ICHTHYOSIS, LEUKOCYTE VACUOLES, ALOPECIA, AND SCLEROSING CHOLANGITIS", "CLDN1"
"ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION", "ELOVL4"
"IMINOGLYCINURIA ", "SLC6A20"
"IMINOGLYCINURIA ", "SLC36A2"
"IMINOGLYCINURIA ", "SLC6A19"
"IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 1 ", "ORAI1"
"IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 2", "STIM1"
"CASPASE 8 DEFICIENCY", "CASP8"
"IMMUNODEFICIENCY DUE TO DEFECT IN CD3-ZETA ", "CD247"
"IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN ", "MAPBPIP"
"IMMUNODEFICIENCY DUE TO FICOLIN 3 DEFICIENCY", "FCN3"
"PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY", "PNP"
"IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5", "UNG"
"IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2", "AICDA"
"IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3", "CD40"
"IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1", "TNFSF5"
"IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA", "MAGT1"
"IMMUNODEFICIENCY, COMMON VARIABLE, 1", "ICOS"
"IMMUNODEFICIENCY, COMMON VARIABLE, 2", "TNFRSF13B"
"IMMUNODEFICIENCY, COMMON VARIABLE, 3", "CD19"
"IMMUNODEFICIENCY, COMMON VARIABLE, 4", "TNFRSF13C"
"IMMUNODEFICIENCY, COMMON VARIABLE, 5", "MS4A1"
"IMMUNODEFICIENCY, COMMON VARIABLE, 6", "CD81"
"IMMUNODEFICIENCY, COMMON VARIABLE, 7", "CR2"
"IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY", "LRBA"
"IMMUNODEFICIENCY WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA", "IKBKG"
"IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 1", "DNMT3B"
"IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2", "ZBTB24"
"IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED", "FOXP3"
"IMMUNOGLOBULIN A DEFICIENCY 2", "TNFRSF13B"
"INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA", "VCP"
"INCLUSION BODY MYOPATHY 2, AUTOSOMAL RECESSIVE", "GNE"
"INCLUSION BODY MYOPATHY 3, AUTOSOMAL DOMINANT", "MYH2"
"INCONTINENTIA PIGMENTI", "IKBKG"
"INFANTILE CEREBELLAR-RETINAL DEGENERATION", "ACO2"
"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A", "PLA2G6"
"INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS", "FADD"
"INFLAMMATORY BOWEL DISEASE 19", "IRGM"
"INFLAMMATORY BOWEL DISEASE 25, AUTOSOMAL RECESSIVE", "CRFB4"
"INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE", "IL10RA"
"INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL", "ADAM17"
"INDIFFERENCE TO PAIN, CONGENITAL, AUTOSOMAL RECESSIVE", "SCN9A"
"INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS", "NTRK1"
"FATAL FAMILIAL INSOMNIA", "PRNP"
"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3", "PPP1R3A"
"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3", "PPARG"
"INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO", "IGF1R"
"OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS", "IL1RN"
"INTERLEUKIN 2 RECEPTOR, ALPHA, DEFICIENCY OF", "IL2RA"
"INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL ", "ITGA3"
"INTERSTITIAL NEPHRITIS, KARYOMEGALIC", "FAN1"
"INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED", "FLNA"
"INTRINSIC FACTOR DEFICIENCY", "GIF"
"INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1", "TIRAP"
"INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 1", "IRAK4"
"INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED, 2", "IKBKG"
"IRIDOGONIODYSGENESIS, TYPE 1", "FOXC1"
"IRIDOGONIODYSGENESIS, TYPE 2", "PITX2"
"IRON-REFRACTORY IRON DEFICIENCY ANEMIA", "TMPRSS6"
"ISOBUTYRYL-CoA DEHYDROGENASE DEFICIENCY", "ACAD8"
"ISOVALERIC ACIDEMIA", "IVD"
"JACKSON-WEISS SYNDROME", "FGFR1"
"JACKSON-WEISS SYNDROME", "FGFR2"
"JALILI SYNDROME", "CNNM4"
"JAWAD SYNDROME", "RBBP8"
"OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA", "TIMM8A"
"JERVELL AND LANGE-NIELSEN SYNDROME 2", "KCNE1"
"JERVELL AND LANGE-NIELSEN SYNDROME 1", "KCNQ1"
"JOHANSON-BLIZZARD SYNDROME", "UBR1"
"JOUBERT SYNDROME", "INPP5E"
"JOUBERT SYNDROME 10", "OFD1"
"JOUBERT SYNDROME 13", "TECT1"
"JOUBERT SYNDROME 14", "TMEM237"
"JOUBERT SYNDROME 15", "CEP41"
"JOUBERT SYNDROME 16", "TMEM138"
"JOUBERT SYNDROME 17", "C4orf42"
"JOUBERT SYNDROME 18", "TCTN3"
"NEPHRONOPHTHISIS 14", "ZNF423"
"JOUBERT SYNDROME 2", "TMEM216"
"JOUBERT SYNDROME 20", "TMEM231"
"JOUBERT SYNDROME 4", "NPHP1"
"JOUBERT SYNDROME 5", "CEP290"
"JOUBERT SYNDROME 6", "TMEM67"
"JOUBERT SYNDROME 7", "RPGRIP1L"
"JOUBERT SYNDROME 8", "ARL13B"
"JOUBERT SYNDROME 9", "CC2D2A"
"JOUBERT SYNDROME 3", "AHI1"
"JUVENILE POLYPOSIS SYNDROME", "MADH4"
"JUVENILE POLYPOSIS SYNDROME", "BMPR1A"
"JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME", "MADH4"
"KBG SYNDROME", "ANKRD11"
"KABUKI SYNDROME 1", "MLL2"
"KABUKI SYNDROME 2", "KDM6A"
"KAHRIZI SYNDROME", "SRD5A3"
"KANZAKI DISEASE", "NAGA"
"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B", "PLA2G6"
"KENNY-CAFFEY SYNDROME, TYPE 1", "TBCE"
"KERATITIS, HEREDITARY ", "PAX6"
"KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT", "GJB2"
"KERATOCONUS 1", "VSX1"
"KERATODERMA, PALMOPLANTAR, PUNCTATE TYPE IA", "AAGAB"
"KERATODERMA, PALMOPLANTAR, WITH DEAFNESS ", "GJB2"
"KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED", "MBTPS2"
"KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED", "SAT1"
"KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA", "POMP"
"KERATOSIS PALMOPLANTARIS STRIATA I", "DSG1"
"KERATOSIS PALMOPLANTARIS STRIATA II", "DSP"
"KERATOSIS PALMOPLANTARIS STRIATA III", "KRT1"
"KERATOSIS, SEBORRHEIC ", "PIK3CA"
"KEUTEL SYNDROME", "MGP"
"KINDLER SYNDROME", "KIND1"
"KLEEFSTRA SYNDROME", "EHMT1"
"KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT", "GDF6"
"KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT", "GDF3"
"KNIEST DYSPLASIA ", "COL2A1"
"KNOBLOCH SYNDROME 2", "ADAMTS18"
"KNOBLOCH SYNDROME 1", "COL18A1"
"KOHLSCHUTTER-TONZ SYNDROME", "ROGDI"
"KOOLEN-DE VRIES SYNDROME", "KANSL1"
"KOWARSKI SYNDROME", "GH1"
"KRABBE DISEASE", "GALC"
"KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY", "PSAP"
"L-2-HYDROXYGLUTARIC ACIDURIA", "L2HGDH"
"LACRIMOAURICULODENTODIGITAL SYNDROME", "FGFR3"
"LACRIMOAURICULODENTODIGITAL SYNDROME", "FGFR2"
"LACRIMOAURICULODENTODIGITAL SYNDROME", "FGF10"
"LEOPARD SYNDROME 1", "PTPN11"
"LEOPARD SYNDROME 2 ", "RAF1"
"LEOPARD SYNDROME 3 ", "BRAF"
"LIG4 SYNDROME ", "LIG4"
"LACTASE DEFICIENCY, CONGENITAL", "LCT"
"LACTOSE INTOLERANCE, ADULT TYPE", "MCM6"
"LACTATE DEHYDROGENASE B DEFICIENCY", "LDHB"
"PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY", "PDX1"
"MYOPATHY, DISTAL, 1", "MYH7"
"LANGER MESOMELIC DYSPLASIA", "SHOX"
"LANGER MESOMELIC DYSPLASIA", "SHOXY"
"LARON SYNDROME", "GHR"
"LARSEN SYNDROME", "FLNB"
"LARYNGOONYCHOCUTANEOUS SYNDROME", "LAMA3"
"LATHOSTEROLOSIS", "SC5DL"
"LEBER CONGENITAL AMAUROSIS 1", "GUCY2D"
"LEBER CONGENITAL AMAUROSIS 10", "CEP290"
"LEBER CONGENITAL AMAUROSIS 11", "IMPDH1"
"LEBER CONGENITAL AMAUROSIS 12", "RD3"
"LEBER CONGENITAL AMAUROSIS 13", "RDH12"
"LEBER CONGENITAL AMAUROSIS 14", "LRAT"
"LEBER CONGENITAL AMAUROSIS 15", "TULP1"
"LEBER CONGENITAL AMAUROSIS 16", "KCNJ13"
"LEBER CONGENITAL AMAUROSIS 2", "RPE65"
"LEBER CONGENITAL AMAUROSIS 3", "SPATA7"
"LEBER CONGENITAL AMAUROSIS 5", "LCA5"
"LEBER CONGENITAL AMAUROSIS 6", "RPGRIP1"
"LEBER CONGENITAL AMAUROSIS 7", "CRX"
"LEBER CONGENITAL AMAUROSIS 8", "CRB1"
"LEBER CONGENITAL AMAUROSIS 9", "NMNAT1"
"LEFT VENTRICULAR NONCOMPACTION 1", "DTNA"
"LEGG-CALVE-PERTHES DISEASE", "COL2A1"
"LEGIUS SYNDROME", "SPRED1"
"LEIGH SYNDROME", "SURF1"
"LEIGH SYNDROME", "DLD"
"LEIGH SYNDROME", "SDHA"
"LEIGH SYNDROME", "NDUFS7"
"LEIGH SYNDROME", "NDUFA2"
"LEIGH SYNDROME", "NDUFS8"
"LEIGH SYNDROME", "NDUFS4"
"LEIGH SYNDROME", "COX15"
"LEIGH SYNDROME", "BCS1L"
"LEIGH SYNDROME", "NDUFA9"
"LEIGH SYNDROME", "NDUFA10"
"LEIGH SYNDROME", "NDUFS3"
"LEIGH SYNDROME", "NDUFAF2"
"LEIGH SYNDROME", "C8orf38"
"LEIGH SYNDROME", "FOXRED1"
"LEIGH SYNDROME", "NDUFA12"
"LEIGH SYNDROME, FRENCH CANADIAN TYPE", "LRPPRC"
"LEIGH SYNDROME, X-LINKED ", "PDHA1"
"HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER", "FH"
"DONOHUE SYNDROME", "INSR"
"LERI-WEILL DYSCHONDROSTEOSIS", "SHOX"
"LERI-WEILL DYSCHONDROSTEOSIS", "SHOXY"
"LESCH-NYHAN SYNDROME", "HPRT1"
"LETHAL CONGENITAL CONTRACTURE SYNDROME 2", "ERBB3"
"LETHAL CONGENITAL CONTRACTURE SYNDROME 3", "PIP5K1C"
"LETHAL CONGENITAL CONTRACTURE SYNDROME 1", "GLE1"
"LETHAL CONGENITAL CONTRACTURE SYNDROME 4", "MYBPC1"
"LEUKEMIA, ACUTE LYMPHOBLASTIC", "BCR"
"LEUKEMIA, ACUTE MYELOID", "NUP214"
"LEUKEMIA, ACUTE MYELOID", "CEBPA"
"LEUKEMIA, ACUTE MYELOID", "FLT3"
"LEUKEMIA, ACUTE MYELOID", "GATA2"
"LEUKEMIA, ACUTE MYELOID", "JAK2"
"LEUKEMIA, ACUTE MYELOID", "RUNX1"
"LEUKEMIA, ACUTE MYELOID", "NPM1"
"LEUKEMIA, ACUTE MYELOID", "KIT"
"LEUKEMIA, ACUTE MYELOID", "TERT"
"LEUKEMIA, ACUTE MYELOID", "GMPS"
"LEUKEMIA, ACUTE MYELOID", "ETV6"
"LEUKEMIA, ACUTE MYELOID", "LPP"
"LEUKEMIA, ACUTE MYELOID", "AF10"
"LEUKEMIA, ACUTE MYELOID", "PICALM"
"LEUKEMIA, ACUTE MYELOID", "CHIC2"
"LEUKEMIA, ACUTE MYELOID", "ARHGEF12"
"LEUKEMIA, ACUTE MYELOID", "WHSC1L1"
"LEUKEMIA, CHRONIC MYELOID", "BCR"
"JUVENILE MYELOMONOCYTIC LEUKEMIA", "PTPN11"
"JUVENILE MYELOMONOCYTIC LEUKEMIA", "ARHGAP26"
"JUVENILE MYELOMONOCYTIC LEUKEMIA", "NF1"
"DOWN SYNDROME", "GATA1"
"LEUKOCYTE ADHESION DEFICIENCY, TYPE I", "ITGB2"
"LEUKOCYTE ADHESION DEFICIENCY, TYPE III", "KIND3"
"LEUKODYSTROPHY, DEMYELINATING, ADULT-ONSET, AUTOSOMAL DOMINANT", "LMNB1"
"LEUKODYSTROPHY, HYPOMYELINATING, 2", "GJC2"
"LEUKODYSTROPHY, HYPOMYELINATING, 3", "AIMP1"
"LEUKODYSTROPHY, HYPOMYELINATING, 4", "HSPD1"
"LEUKODYSTROPHY, HYPOMYELINATING, 5", "FAM126A"
"LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM", "POLR3A"
"LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM", "POLR3B"
"LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION", "DARS2"
"LEUKOENCEPHALOPATHY WITH DYSTONIA AND MOTOR NEUROPATHY", "SCP2"
"LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER", "EIF2B5"
"LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER", "EIF2B3"
"LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER", "EIF2B2"
"LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER", "EIF2B1"
"LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER", "EIF2B4"
"LEUKOENCEPHALOPATHY, CYSTIC, WITHOUT MEGALENCEPHALY ", "RNASET2"
"LEUKOENCEPHALOPATHY, DIFFUSE HEREDITARY, WITH SPHEROIDS", "CSF1R"
"PRECOCIOUS PUBERTY, MALE-LIMITED", "LHCGR"
"LEYDIG CELL HYPOPLASIA, TYPE I", "LHCGR"
"LI-FRAUMENI SYNDROME 1", "TP53"
"LI-FRAUMENI SYNDROME 2", "CHEK2"
"LIDDLE SYNDROME", "SCNN1B"
"LIDDLE SYNDROME", "SCNN1G"
"LIMB-MAMMARY SYNDROME", "TP63"
"LIPASE DEFICIENCY, COMBINED", "LMF1"
"LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1", "AGPAT2"
"LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2", "BSCL2"
"LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 3", "CAV1"
"LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4", "PTRF"
"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2", "LMNA"
"LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 4", "PLIN1"
"LIPOID CONGENITAL ADRENAL HYPERPLASIA", "STAR"
"LIPOID PROTEINOSIS OF URBACH AND WIETHE", "ECM1"
"LIPOPROTEIN GLOMERULOPATHY", "APOE"
"HYPERLIPOPROTEINEMIA, TYPE I", "LPL"
"LISSENCEPHALY 1", "PAFAH1B1"
"LISSENCEPHALY 2", "RELN"
"LISSENCEPHALY 3", "TUBA1A"
"LISSENCEPHALY 4", "NDE1"
"LISSENCEPHALY, X-LINKED, 1", "DCX"
"LIVER FAILURE, INFANTILE, TRANSIENT", "TRMU"
"LOEYS-DIETZ SYNDROME, TYPE 1A", "TGFBR1"
"LOEYS-DIETZ SYNDROME, TYPE 1B", "TGFBR2"
"LOEYS-DIETZ SYNDROME, TYPE 2A", "TGFBR1"
"LOEYS-DIETZ SYNDROME, TYPE 2B", "TGFBR2"
"LOEYS-DIETZ SYNDROME, TYPE 3", "SMAD3"
"LOEYS-DIETZ SYNDROME, TYPE 4", "TGFB2"
"LONG QT SYNDROME 12", "SNT1"
"LONG QT SYNDROME 13", "KCNJ5"
"LONG QT SYNDROME 1", "KCNQ1"
"LONG QT SYNDROME 10", "SCN4B"
"LONG QT SYNDROME 11", "AKAP9"
"LONG QT SYNDROME 2", "KCNH2"
"LONG QT SYNDROME 2", "ALG10"
"LONG QT SYNDROME 3", "SCN5A"
"LONG QT SYNDROME 5", "KCNE1"
"LONG QT SYNDROME 6", "KCNE2"
"LONG QT SYNDROME 9", "CAV3"
"LOWE OCULOCEREBRORENAL SYNDROME", "OCRL"
"LUJAN-FRYNS SYNDROME", "MED12"
"LYMPHANGIOLEIOMYOMATOSIS", "TSC2"
"LYMPHANGIOLEIOMYOMATOSIS", "TSC1"
"LYMPHEDEMA, HEREDITARY, IA", "FLT4"
"LYMPHEDEMA, HEREDITARY, IC", "GJC2"
"LYMPHEDEMA-DISTICHIASIS SYNDROME", "FOXC2"
"GASTRIC LYMPHOMA, PRIMARY ", "BCL10"
"LYMPHOMA, NON-HODGKIN, FAMILIAL", "PRF1"
"LYMPHOMA, NON-HODGKIN, FAMILIAL", "CASP10"
"LYMPHOMA, NON-HODGKIN, FAMILIAL", "RAD54L"
"LYMPHOPROLIFERATIVE SYNDROME, EBV-ASSOCIATED, AUTOSOMAL, 1 ", "ITK"
"LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2", "XIAP"
"LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1", "SH2D1A"
"LYSINURIC PROTEIN INTOLERANCE", "SLC7A7"
"BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS", "PLOD3"
"MASP2 DEFICIENCY ", "MASP2"
"MASS SYNDROME", "FBN1"
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1", "HNF4A"
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3", "HNF1A"
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4", "IPF1"
"MACHADO-JOSEPH DISEASE", "ATXN3"
"MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS", "RIN2"
"MACROCEPHALY, MACROSOMIA, FACIAL DYSMORPHISM SYNDROME", "RNF135"
"MACROCEPHALY/AUTISM SYNDROME ", "PTEN"
"CHROMOSOME 5q DELETION SYNDROME", "RPS14"
"MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1", "MYD88"
"MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS ", "MYH9"
"MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED ", "TUBB1"
"MACULAR DYSTROPHY, CORNEAL, 1", "CHST6"
"MACULAR DEGENERATION, X-LINKED ATROPHIC ", "RPGR"
"MACULAR DEGENERATION, AGE-RELATED, 11", "CST3"
"MACULAR DEGENERATION, AGE-RELATED, 2", "ABCA4"
"MACULAR DEGENERATION, AGE-RELATED, 3", "FBLN5"
"MACULAR DEGENERATION, AGE-RELATED, 6", "RAXL1"
"STARGARDT DISEASE 3", "ELOVL4"
"PATTERNED DYSTROPHY OF RETINAL PIGMENT EPITHELIUM", "PRPH2"
"MACULAR DYSTROPHY, RETINAL, 2", "PROM1"
"RETINITIS PIGMENTOSA 56", "IMPG2"
"MAINZER-SALDINO SYNDROME", "IFT140"
"MAJEED SYNDROME", "LPIN2"
"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 1", "PTEN"
"MALONYL-CoA DECARBOXYLASE DEFICIENCY ", "MLYCD"
"CARDIOMYOPATHY, DILATED, WITH HYPERGONADOTROPIC HYPOGONADISM", "LMNA"
"MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY", "ZMPSTE24"
"MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY", "LMNA"
"MANDIBULOFACIAL DYSOSTOSIS WITH MICROCEPHALY", "EFTUD2"
"MANITOBA OCULOTRICHOANAL SYNDROME", "FREM1"
"MANNOSIDOSIS, ALPHA B, LYSOSOMAL", "MAN2B1"
"MANNOSIDOSIS, BETA A, LYSOSOMAL", "MANBA"
"MAPLE SYRUP URINE DISEASE", "DLD"
"MAPLE SYRUP URINE DISEASE", "DBT"
"MAPLE SYRUP URINE DISEASE", "BCKDHB"
"MAPLE SYRUP URINE DISEASE", "BCKDHA"
"MARFAN SYNDROME", "FBN1"
"MARINESCO-SJOGREN SYNDROME", "SIL1"
"MARSHALL SYNDROME", "COL11A1"
"MARSHALL-SMITH SYNDROME", "NFIX"
"PANCREATIC HYPOPLASIA, INTESTINAL ATRESIA, AND GALLBLADDER APLASIA", "RFX6"
"MARTSOLF SYNDROME", "RAB3GAP2"
"MAST CELL DISEASE", "KIT"
"MAST SYNDROME", "ACP33"
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6", "NEUROD1"
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10", "INS"
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11", "BLK"
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 9", "PAX4"
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 7", "KLF11"
"MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION", "CEL"
"MAY-HEGGLIN ANOMALY", "MYH9"
"GLYCOGEN STORAGE DISEASE V", "PYGM"
"MCCUNE-ALBRIGHT SYNDROME", "GNAS"
"MCKUSICK-KAUFMAN SYNDROME", "MKKS"
"MCLEOD SYNDROME", "XK"
"MEACHAM SYNDROME ", "WT1"
"MECKEL SYNDROME, TYPE 1", "MKS1"
"MECKEL SYNDROME, TYPE 10", "B9D2"
"MECKEL SYNDROME, TYPE 2", "TMEM216"
"MECKEL SYNDROME, TYPE 3", "TMEM67"
"MECKEL SYNDROME, TYPE 4", "CEP290"
"MECKEL SYNDROME, TYPE 5", "RPGRIP1L"
"MECKEL SYNDROME, TYPE 6", "CC2D2A"
"MECKEL SYNDROME, TYPE 7", "NPHP3"
"MECKEL SYNDROME, TYPE 8", "TCTN2"
"MECKEL SYNDROME, TYPE 9", "B9D1"
"MECONIUM ILEUS ", "GUCY2C"
"MEDULLARY CYSTIC KIDNEY DISEASE 2", "UMOD"
"THYROID CARCINOMA, FAMILIAL MEDULLARY", "RET"
"THYROID CARCINOMA, FAMILIAL MEDULLARY", "NTRK1"
"MEDULLOBLASTOMA", "BRCA2"
"MEDULLOBLASTOMA", "PTCH2"
"MEDULLOBLASTOMA", "SUFU"
"CORNEAL DYSTROPHY, MEESMANN", "KRT3"
"CORNEAL DYSTROPHY, MEESMANN", "KRT12"
"MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A", "HEPACAM"
"MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION", "HEPACAM"
"MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 1", "MLC1"
"MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME", "PIK3R2"
"MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME", "AKT3"
"MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY", "DHFR"
"MEGALOBLASTIC ANEMIA 1", "CUBN"
"MEGALOBLASTIC ANEMIA 1", "AMN"
"MEIER-GORLIN SYNDROME 1", "ORC1"
"MEIER-GORLIN SYNDROME 2", "ORC4"
"MEIER-GORLIN SYNDROME 3", "ORC6"
"MEIER-GORLIN SYNDROME 4", "CDT1"
"MEIER-GORLIN SYNDROME 5", "CDC6"
"MELANOMA-ASTROCYTOMA SYNDROME", "CDKN2A"
"MAL DE MELEDA", "SLURP1"
"MELNICK-NEEDLES SYNDROME", "FLNA"
"MELORHEOSTOSIS, ISOLATED", "LEMD3"
"MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO ", "MN1"
"MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO ", "PTEN"
"MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO ", "SUFU"
"MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO ", "NF2"
"MENKES DISEASE", "ATP7A"
"MENTAL RETARDATION AND MICROCEPHALY WITH PONTINE AND CEREBELLAR HYPOPLASIA", "CASK"
"SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME", "PHF8"
"MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES ", "FOXP1"
"MENTAL RETARDATION, FRA12A TYPE ", "DIP2B"
"MENTAL RETARDATION, X-LINKED 1", "IQSEC2"
"MENTAL RETARDATION, X-LINKED 17", "HSD17B10"
"MENTAL RETARDATION, X-LINKED 19", "RPS6KA3"
"MENTAL RETARDATION, X-LINKED 21", "IL1RAPL1"
"MENTAL RETARDATION, X-LINKED, WITH OR WITHOUT SEIZURES, ARX-RELATED", "ARX"
"MENTAL RETARDATION, X-LINKED 3", "HCFC1"
"MENTAL RETARDATION, X-LINKED 30", "PAK3"
"MENTAL RETARDATION, X-LINKED 41", "GDI1"
"MENTAL RETARDATION, X-LINKED 45", "ZNF81"
"MENTAL RETARDATION, X-LINKED 46", "ARHGEF6"
"MENTAL RETARDATION, X-LINKED 58", "TSPAN7"
"MENTAL RETARDATION, X-LINKED 63", "ACSL4"
"MENTAL RETARDATION, X-LINKED 72", "RAB39B"
"MENTAL RETARDATION, X-LINKED 88", "AGTR2"
"MENTAL RETARDATION, X-LINKED 89", "ZNF41"
"MENTAL RETARDATION, X-LINKED 9", "FTSJ1"
"MENTAL RETARDATION, X-LINKED 90", "DLG3"
"MENTAL RETARDATION, X-LINKED 91", "ZDHHC15"
"MENTAL RETARDATION, X-LINKED 92", "ZNF674"
"MENTAL RETARDATION, X-LINKED 93", "BRWD3"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC, WU TYPE", "GRIA3"
"MENTAL RETARDATION, X-LINKED 95", "MAGT1"
"MENTAL RETARDATION, X-LINKED 96", "SYP"
"MENTAL RETARDATION, X-LINKED 97", "ZNF711"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC 10", "HSD17B10"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE", "SLC9A6"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC, FRIED TYPE", "AP1S2"
"LUBS X-LINKED MENTAL RETARDATION SYNDROME", "MECP2"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC, NASCIMENTO TYPE", "UBE2A"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE", "ZDHHC9"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE", "HUWE1"
"AUTISM, SUSCEPTIBILITY TO, X-LINKED 2", "NLGN4"
"MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE", "AFF2"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE", "SMS"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC 13", "MECP2"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC 14", "UPF3B"
"MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT", "CUL4B"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC 32", "CLIC2"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE", "KDM5C"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE", "RAB40AL"
"MENTAL RETARDATION, X-LINKED, WITH CEREBELLAR HYPOPLASIA AND DISTINCTIVE FACIAL APPEARANCE", "OPHN1"
"MENTAL RETARDATION, X-LINKED, SYNDROMIC, HEDERA TYPE", "ATP6AP2"
"MENTAL RETARDATION, X-LINKED, WITH PANHYPOPITUITARISM", "SOX3"
"MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS", "SOBP"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 1", "MBD5"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 10", "CACNG2"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 11", "EPB41L1"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 12", "ARID1B"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 13", "DYNC1H1"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 14", "ARID1A"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 15", "SMARCB1"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 16", "SMARCA4"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 2", "DOCK8"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 3", "CDH15"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 4", "KIRREL3"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 5", "SYNGAP"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 6", "GRIN2B"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 7", "DYRK1A"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 8", "GRIN1"
"MENTAL RETARDATION, AUTOSOMAL DOMINANT 9", "KIF1A"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1", "PRSS12"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12", "ST3GAL3"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13", "TRAPPC9"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 14", "TECR"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15", "MAN1B1"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 18", "MED23"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2", "CRBN"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 3", "CC2D1A"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 34", "CRADD"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5", "NSUN2"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7", "TUSC3"
"MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6", "GRIK2"
"MENTAL RETARDATION, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS", "MEF2C"
"MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS", "INPP5E"
"MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1", "ATRX"
"MESOTHELIOMA, MALIGNANT", "BCL10"
"MESOTHELIOMA, MALIGNANT", "WT1"
"METACHONDROMATOSIS", "PTPN11"
"METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY", "PSAP"
"METACHROMATIC LEUKODYSTROPHY", "ARSA"
"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE", "MMP13"
"METAPHYSEAL ANADYSPLASIA 2", "MMP9"
"METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE", "PTHR1"
"METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE", "COL10A1"
"METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS", "RMRP"
"METATROPIC DYSPLASIA", "TRPV4"
"METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE", "CYB5R3"
"METHEMOGLOBINEMIA TYPE IV", "CYB5A"
"METHYLCOBALAMIN DEFICIENCY, cblG TYPE", "MTR"
"METHYLMALONATE SEMIALDEHYDE DEHYDROGENASE DEFICIENCY", "ALDH6A1"
"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE", "MMACHC"
"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE", "LMBRD1"
"METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblJ TYPE", "ABCD4"
"METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECT", "CD320"
"METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY", "MUT"
"METHYLMALONIC ACIDURIA, cblA TYPE", "MMAA"
"METHYLMALONIC ACIDURIA, cblB TYPE", "MMAB"
"METHYLMALONYL-CoA EPIMERASE DEFICIENCY", "MCEE"
"MEVALONIC ACIDURIA", "MVK"
"MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY", "SLC25A3"
"MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I", "RNU4ATAC"
"MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II", "PCNT"
"MICROCEPHALY 1, PRIMARY, AUTOSOMAL RECESSIVE", "MCPH1"
"MICROCEPHALY 2, PRIMARY, AUTOSOMAL RECESSIVE, WITH OR WITHOUT CORTICAL MALFORMATIONS", "WDR62"
"MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE", "CDK5RAP2"
"MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE", "CASC5"
"MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE", "CEP152"
"MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE", "ASPM"
"MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE", "CENPJ"
"MICROCEPHALY 7, PRIMARY, AUTOSOMAL RECESSIVE", "STIL"
"MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE", "CEP135"
"MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT MENTAL RETARDATION, AUTOSOMAL RECESSIVE ", "TUBGCP6"
"MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION", "KIF11"
"MICROCEPHALY, AMISH TYPE", "SLC25A19"
"MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME", "IER3IP1"
"MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY ", "MED17"
"VITREORETINOCHOROIDOPATHY", "BEST1"
"MICROPHTHALMIA, ISOLATED, WITH CATARACT 2", "SIX6"
"MICROPHTHALMIA, ISOLATED, WITH CATARACT 4", "CRYBA4"
"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3", "CHX10"
"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5", "SHH"
"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6", "GDF6"
"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6", "GDF3"
"MICROPHTHALMIA WITH LIMB ANOMALIES", "SMOC1"
"MICROPHTHALMIA, ISOLATED 2", "CHX10"
"MICROPHTHALMIA, ISOLATED 3", "RAX"
"MICROPHTHALMIA, ISOLATED 4", "GDF6"
"MICROPHTHALMIA, ISOLATED 5", "MFRP"
"MICROPHTHALMIA, ISOLATED 6", "PRSS56"
"MICROPHTHALMIA, ISOLATED 7", "GDF3"
"MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7", "ABCB6"
"MICROPHTHALMIA, SYNDROMIC 9", "STRA6"
"MICROPHTHALMIA, SYNDROMIC 11", "VAX1"
"MICROPHTHALMIA, SYNDROMIC 2", "BCOR"
"MICROPHTHALMIA, SYNDROMIC 3", "SOX2"
"MICROPHTHALMIA, SYNDROMIC 5", "OTX2"
"MICROPHTHALMIA, SYNDROMIC 6", "BMP4"
"MICROPHTHALMIA, SYNDROMIC 7", "HCCS"
"MICROSPHEROPHAKIA AND/OR MEGALOCORNEA, WITH ECTOPIA LENTIS AND WITH OR WITHOUT SECONDARY GLAUCOMA", "LTBP2"
"MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE ", "HOXA2"
"DIARRHEA 2, WITH MICROVILLUS ATROPHY", "MYO5B"
"MIGRAINE, FAMILIAL HEMIPLEGIC, 2", "ATP1A2"
"MIGRAINE, FAMILIAL HEMIPLEGIC, 1", "CACNA1A"
"MIGRAINE, FAMILIAL HEMIPLEGIC, 3", "SCN1A"
"MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1", "EDNRA"
"MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1", "ESR1"
"MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1", "TNF"
"POSTAXIAL ACROFACIAL DYSOSTOSIS", "DHODH"
"MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA", "RYR1"
"MIRROR MOVEMENTS 2", "RAD51A"
"MIRROR MOVEMENTS 1", "DCC"
"MISMATCH REPAIR CANCER SYNDROME", "MLH1"
"MISMATCH REPAIR CANCER SYNDROME", "PMS2"
"MISMATCH REPAIR CANCER SYNDROME", "MSH6"
"MISMATCH REPAIR CANCER SYNDROME", "MSH2"
"MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)", "TYMP"
"MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE)", "TK2"
"MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)", "DGUOK"
"MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)", "POLG"
"MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)", "POLG"
"MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH METHYLMALONIC ACIDURIA)", "SUCLA2"
"MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)", "MPV17"
"MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)", "C10orf2"
"MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH", "RRM2B"
"MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)", "SUCLG1"
"MITOCHONDRIAL COMPLEX II DEFICIENCY", "SDHA"
"MITOCHONDRIAL COMPLEX II DEFICIENCY", "SDHAF1"
"MITOCHONDRIAL COMPLEX III DEFICIENCY ", "UQCRB"
"MITOCHONDRIAL COMPLEX III DEFICIENCY ", "BCS1L"
"MITOCHONDRIAL COMPLEX III DEFICIENCY ", "UQCRQ"
"MITOCHONDRIAL COMPLEX III DEFICIENCY ", "TTC19"
"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1", "ATPAF2"
"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2", "TMEM70"
"MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 3", "ATP5E"
"MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1", "PUS1"
"MITOCHONDRIAL PYRUVATE CARRIER DEFICIENCY", "BRP44L"
"SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS", "POLG"
"MIYOSHI MUSCULAR DYSTROPHY 1", "DYSF"
"MIYOSHI MUSCULAR DYSTROPHY 3", "ANO5"
"MOHR-TRANEBJAERG SYNDROME", "TIMM8A"
"MOLYBDENUM COFACTOR DEFICIENCY", "MOCS1"
"MOLYBDENUM COFACTOR DEFICIENCY", "MOCS2"
"MOLYBDENUM COFACTOR DEFICIENCY", "GPHN"
"MONILETHRIX ", "KRT86"
"MONILETHRIX ", "KRT81"
"MONILETHRIX ", "KRT83"
"MONONEUROPATHY OF THE MEDIAN NERVE, MILD", "SH3TC2"
"MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2", "CEP57"
"MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1", "BUB1B"
"MOWAT-WILSON SYNDROME", "ZEB2"
"MOYAMOYA DISEASE 5", "ACTA2"
"MUCKLE-WELLS SYNDROME", "NLRP3"
"MUCOLIPIDOSIS II ALPHA/BETA", "GNPTAB"
"MUCOLIPIDOSIS III ALPHA/BETA", "GNPTAB"
"MUCOLIPIDOSIS III GAMMA", "GNPTAG"
"MUCOLIPIDOSIS IV", "MCOLN1"
"MUCOPOLYSACCHARIDOSIS TYPE IIIA", "SGSH"
"MUCOPOLYSACCHARIDOSIS TYPE II", "IDS"
"MUCOPOLYSACCHARIDOSIS TYPE IVA", "GALNS"
"HURLER SYNDROME", "IDUA"
"HURLER-SCHEIE SYNDROME", "IDUA"
"SCHEIE SYNDROME", "IDUA"
"MUCOPOLYSACCHARIDOSIS TYPE VII", "GUSB"
"MUCOPOLYSACCHARIDOSIS TYPE IIIB", "NAGLU"
"MUCOPOLYSACCHARIDOSIS TYPE IIIC", "HGSNAT"
"MUCOPOLYSACCHARIDOSIS TYPE IIID", "GNS"
"MUCOPOLYSACCHARIDOSIS TYPE IVB", "GLB1"
"MUCOPOLYSACCHARIDOSIS TYPE IX", "HYAL1"
"MUCOPOLYSACCHARIDOSIS TYPE VI", "ARSB"
"MUENKE SYNDROME", "FGFR3"
"MUIR-TORRE SYNDROME", "MLH1"
"MUIR-TORRE SYNDROME", "MSH2"
"MULIBREY NANISM", "TRIM37"
"MULLERIAN APLASIA AND HYPERANDROGENISM", "WNT4"
"MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME", "MAFB"
"MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 1", "PIGN"
"MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2", "PIGA"
"MULTIPLE ENDOCRINE NEOPLASIA, TYPE I", "MEN1"
"MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA", "RET"
"MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB", "RET"
"MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV", "CDKN1B"
"MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, CRANIOFACIAL DYSMORPHISM, AND CONGENITAL HEART DEFECTS", "B3GAT3"
"MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 1", "NFU1"
"MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2", "BOLA3"
"MYELOMA, MULTIPLE", "LIG4"
"MYELOMA, MULTIPLE", "IRF4"
"MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE", "CHRNA1"
"MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE", "CHRND"
"MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE", "CHRNG"
"MULTIPLE SULFATASE DEFICIENCY", "SUMF1"
"MULTIPLE SYNOSTOSES SYNDROME 2", "GDF5"
"MULTIPLE SYNOSTOSES SYNDROME 3", "FGF9"
"MULTIPLE SYNOSTOSES SYNDROME 1", "NOG"
"MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME", "ACTA2"
"GLYCOGEN STORAGE DISEASE, TYPE IXd", "PHKA1"
"MUSCLE HYPERTROPHY", "GDF8"
"EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY", "PLEC1"
"MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A", "LAMA2"
"MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED", "LMNA"
"MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY", "ITGA7"
"MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE", "CHKB"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1A", "TTID"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B", "LMNA"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1E", "DNAJB6"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2A", "CAPN3"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2B", "DYSF"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2C", "SGCG"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2D", "SGCA"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2E", "SGCB"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2F", "SGCD"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2G", "TCAP"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2H", "TRIM32"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J", "TTN"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2L", "ANO5"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q", "PLEC1"
"MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1C", "CAV3"
"RIGID SPINE MUSCULAR DYSTROPHY 1", "SEPN1"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 1", "POMT1"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 2", "POMT2"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 3", "POMGNT1"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4", "FKTN"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5", "FKRP"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 6", "LARGE"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7", "ISPD"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8", "GTDC2"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1", "POMT1"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2", "POMT2"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3", "POMGNT1"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6", "LARGE"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUT MENTAL RETARDATION), TYPE B, 5", "FKRP"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4", "FKTN"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1", "POMT1"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 2", "POMT2"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3", "POMGNT1"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4", "FKTN"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5", "FKRP"
"MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7", "DAG1"
"MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1", "GFPT1"
"MYASTHENIA, LIMB-GIRDLE, FAMILIAL", "AGRN"
"MYASTHENIA, LIMB-GIRDLE, FAMILIAL", "DOK7"
"MYASTHENIC SYNDROME, CONGENITAL, ACETAZOLAMIDE-RESPONSIVE ", "SCN4A"
"MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR", "CHRNB1"
"MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR", "CHRNE"
"MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR", "MUSK"
"MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR", "RAPSN"
"MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH EPISODIC APNEA", "CHAT"
"MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 2", "DPAGT1"
"MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL", "CHRNA1"
"MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL", "CHRND"
"MYASTHENIC SYNDROME, CONGENITAL, FAST-CHANNEL", "CHRNE"
"MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL", "CHRNA1"
"MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL", "CHRNB1"
"MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL", "CHRND"
"MYASTHENIC SYNDROME, CONGENITAL, SLOW-CHANNEL", "CHRNE"
"MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE", "STAT1"
"MYELODYSPLASTIC SYNDROME", "GATA2"
"MYELODYSPLASTIC SYNDROME", "SF3B1"
"MYELODYSPLASTIC SYNDROME", "TET2"
"MYELODYSPLASTIC SYNDROME", "ASXL1"
"MYELOFIBROSIS", "JAK2"
"MYELOFIBROSIS", "MPL"
"MYELOFIBROSIS", "SH2B3"
"MYELOPEROXIDASE DEFICIENCY", "MPO"
"MYELOPROLIFERATIVE DISORDER, CHRONIC, WITH EOSINOPHILIA", "PDGFRB"
"MYHRE SYNDROME", "MADH4"
"MYOCLONIC EPILEPSY, FAMILIAL INFANTILE", "TBC1D24"
"MYOCLONUS, FAMILIAL CORTICAL", "NOL3"
"MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE", "LPIN1"
"SEIZURES, BENIGN FAMILIAL NEONATAL, 1", "KCNQ2"
"CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET", "CPT2"
"MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY", "ISCU"
"NEMALINE MYOPATHY 3", "ACTA1"
"MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET", "MEGF10"
"MYOPATHY, CENTRONUCLEAR, 1", "DNM2"
"MYOPATHY, CENTRONUCLEAR, 1", "MTMR14"
"MYOPATHY, CENTRONUCLEAR, 3", "MYF6"
"MYOPATHY, CENTRONUCLEAR, 4", "CCDC78"
"MYOPATHY, CENTRONUCLEAR, 2", "BIN1"
"MYOPATHY, CONGENITAL, COMPTON-NORTH ", "CNTN1"
"MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION", "ACTA1"
"MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION", "TPM3"
"MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION", "SEPN1"
"MYOPATHY, DISTAL, 2", "MATR3"
"MYOPATHY, DISTAL, 4", "FLNC"
"MYOPATHY, DISTAL, TATEYAMA TYPE", "CAV3"
"MYOPATHY, DISTAL, WITH ANTERIOR TIBIAL ONSET", "DYSF"
"MYOPATHY, EARLY-ONSET, WITH FATAL CARDIOMYOPATHY", "TTN"
"MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 2", "YARS2"
"MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT, HEARING LOSS, AND DEVELOPMENTAL DELAY", "GFER"
"MYOPATHY, MYOFIBRILLAR, 1", "DES"
"MYOPATHY, MYOFIBRILLAR, 5", "FLNC"
"MYOPATHY, MYOFIBRILLAR 6, MFM6", "BAG3"
"MYOPATHY, MYOFIBRILLAR, 4", "LDB3"
"MYOPATHY, MYOFIBRILLAR, 2, MFM2", "CRYAB"
"MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED", "CRYAB"
"MYOPATHY, MYOSIN STORAGE", "MYH7"
"HEREDITARY MYOPATHY WITH EARLY RESPIRATORY FAILURE", "TTN"
"MYOPATHY, REDUCING BODY, X-LINKED, CHILDHOOD-ONSET ", "FHL1"
"MYOPATHY, REDUCING BODY, X-LINKED, EARLY-ONSET, SEVERE ", "FHL1"
"MYOPATHY, SPHEROID BODY ", "TTID"
"MYOPIA 21, AUTOSOMAL DOMINANT", "ZNF644"
"MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION", "LEPREL1"
"MYOSCLEROSIS, AUTOSOMAL RECESSIVE", "COL6A2"
"MYOPATHY, MYOFIBRILLAR, 3", "TTID"
"MYOTONIA, POTASSIUM-AGGRAVATED", "SCN4A"
"MYOTONIA CONGENITA, AUTOSOMAL DOMINANT", "CLCN1"
"MYOTONIA CONGENITA, AUTOSOMAL RECESSIVE", "CLCN1"
"MYOTONIC DYSTROPHY 1", "DMPK"
"MYOTONIC DYSTROPHY 2", "ZNF9"
"MYOPATHY, CENTRONUCLEAR, X-LINKED", "MTM1"
"MYXOMA, INTRACARDIAC", "PRKAR1A"
"N-ACETYLASPARTATE DEFICIENCY", "NAT8L"
"N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY", "NAGS"
"OGDEN SYNDROME", "NAA10"
"NAEGELI SYNDROME", "KRT14"
"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10", "FZD6"
"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 3", "PLCD1"
"NAIL-PATELLA SYNDROME", "LMX1B"
"NANCE-HORAN SYNDROME", "NHS"
"NANOPHTHALMOS 2", "MFRP"
"NARCOLEPSY 1", "HCRT"
"NARCOLEPSY 7", "MOG"
"NASOPHARYNGEAL CARCINOMA", "TP53"
"POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY", "TYROBP"
"POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY", "TREM2"
"NATURAL KILLER CELL AND GLUCOCORTICOID DEFICIENCY WITH DNA REPAIR DEFECT", "MCM4"
"NAXOS DISEASE", "JUP"
"NEMALINE MYOPATHY 2", "NEB"
"NEMALINE MYOPATHY 6", "KBTBD13"
"NEMALINE MYOPATHY 7", "CFL2"
"NEMALINE MYOPATHY 4", "TPM2"
"NEMALINE MYOPATHY 5", "TNNT1"
"NEPHROGENIC SYNDROME OF INAPPROPRIATE ANTIDIURESIS", "AVPR2"
"NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE", "CLCN5"
"NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 1", "SLC34A1"
"NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2", "SLC9A3R1"
"NEPHRONOPHTHISIS 1", "NPHP1"
"NEPHRONOPHTHISIS 11", "TMEM67"
"NEPHRONOPHTHISIS 12", "TTC21B"
"NEPHRONOPHTHISIS 13", "WDR19"
"NEPHRONOPHTHISIS 15", "CEP164"
"NEPHRONOPHTHISIS 2", "INVS"
"NEPHRONOPHTHISIS 3", "NPHP3"
"NEPHRONOPHTHISIS 4", "NPHP4"
"NEPHRONOPHTHISIS 7", "GLIS2"
"NEPHRONOPHTHISIS 9", "NEK8"
"NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1", "XPNPEP3"
"CFHR5 DEFICIENCY ", "CFHR5"
"NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS ", "CD151"
"NEPHROTIC SYNDROME, TYPE 1", "NPHS1"
"NEPHROTIC SYNDROME, TYPE 2", "PDCN"
"NEPHROTIC SYNDROME, TYPE 3", "PLCE1"
"NEPHROTIC SYNDROME, TYPE 4", "WT1"
"NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES", "LAMB2"
"NEPHROTIC SYNDROME, TYPE 6", "PTPRO"
"NESTOR-GUILLERMO PROGERIA SYNDROME", "BANF1"
"NETHERTON SYNDROME", "SPINK5"
"NEURAL TUBE DEFECTS", "CCL2"
"NEURAL TUBE DEFECTS", "T"
"NEURAL TUBE DEFECTS", "VANGL1"
"NEURAL TUBE DEFECTS", "FUZ"
"NEUROBLASTOMA, SUSCEPTIBILITY TO, 2", "PMX2B"
"NEUROBLASTOMA, SUSCEPTIBILITY TO", "NME1"
"NEUROBLASTOMA, SUSCEPTIBILITY TO", "KIF1B"
"NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCY ", "FOLR1"
"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 1", "PANK2"
"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3", "FTL"
"NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4", "C19orf12"
"NEUROFIBROMATOSIS, FAMILIAL SPINAL", "NF1"
"NEUROFIBROMATOSIS, TYPE I", "NF1"
"NEUROFIBROMATOSIS, TYPE II", "NF2"
"NEUROFIBROMATOSIS-NOONAN SYNDROME", "NF1"
"NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE", "HINT1"
"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC", "HSPB3"
"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VB", "REEP1"
"SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1", "IGHMBP2"
"NEUROPATHY, CONGENITAL HYPOMYELINATING", "EGR2"
"NEUROPATHY, CONGENITAL HYPOMYELINATING", "MPZ"
"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA", "HSPB8"
"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB", "HSPB1"
"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA", "GARS"
"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VA", "BSCL2"
"NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIB", "DCTN1"
"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IA", "SPTLC1"
"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC", "SPTLC2"
"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA", "WNK1"
"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIB", "FAM134B"
"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V", "NGFB"
"NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI", "DST"
"NEUROPATHY, HEREDITARY SENSORY, TYPE ID", "ATL1"
"NEUROPATHY, HEREDITARY SENSORY, TYPE IE", "DNMT1"
"NEUROPATHY, HEREDITARY SENSORY, TYPE IIC", "KIF1A"
"NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE ", "CCT5"
"GUILLAIN-BARRE SYNDROME, FAMILIAL", "PMP22"
"NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES", "PMP22"
"NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY", "PNPLA2"
"CYCLIC NEUTROPENIA", "ELANE"
"NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS", "GFI1"
"NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT", "ELANE"
"NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT", "GFI1"
"NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE", "HAX1"
"NEUTROPENIA, SEVERE CONGENITAL, X-LINKED", "WAS"
"NEUTROPHIL IMMUNODEFICIENCY SYNDROME ", "RAC2"
"NEUTROPHILIA, HEREDITARY ", "CSF3R"
"NEVUS, EPIDERMAL", "FGFR3"
"NEVUS, EPIDERMAL", "HRAS"
"NEWFOUNDLAND ROD-CONE DYSTROPHY", "RLBP1"
"NICOLAIDES-BARAITSER SYNDROME", "SMARCA2"
"NIEMANN-PICK DISEASE, TYPE A", "SMPD1"
"NIEMANN-PICK DISEASE, TYPE B", "SMPD1"
"NIEMANN-PICK DISEASE, TYPE C1", "NPC1"
"NIEMANN-PICK DISEASE, TYPE C2 ", "NPC2"
"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A", "NYX"
"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A", "CACNA1F"
"NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2", "PDE6B"
"NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 3", "GNAT1"
"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B", "GRM6"
"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C", "TRPM1"
"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1D", "SLC24A1"
"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E", "GPR179"
"NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B", "CABP4"
"NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 1", "RHO"
"NIJMEGEN BREAKAGE SYNDROME", "NBS1"
"NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER", "RAD50"
"NONAKA MYOPATHY", "GNE"
"NOONAN SYNDROME 1", "PTPN11"
"NOONAN SYNDROME 3", "KRAS"
"NOONAN SYNDROME 4", "SOS1"
"NOONAN SYNDROME 5", "RAF1"
"NOONAN SYNDROME 6", "NRAS"
"NOONAN SYNDROME 7", "BRAF"
"NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA", "CBL"
"NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR", "SHOC2"
"NORRIE DISEASE", "NDP"
"LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY", "LCAT"
"NYSTAGMUS 1, CONGENITAL, X-LINKED", "FRMD7"
"NYSTAGMUS 6, CONGENITAL, X-LINKED", "GPR143"
"OSTEOGENESIS IMPERFECTA, TYPE II", "COL1A1"
"OSTEOGENESIS IMPERFECTA, TYPE II", "COL1A2"
"OSTEOGENESIS IMPERFECTA, TYPE III", "COL1A1"
"OSTEOGENESIS IMPERFECTA, TYPE III", "COL1A2"
"OSTEOGENESIS IMPERFECTA, TYPE IV", "COL1A1"
"OSTEOGENESIS IMPERFECTA, TYPE IV", "COL1A2"
"OKT4 EPITOPE DEFICIENCY", "CD4"
"PROPROTEIN CONVERTASE 1/3 DEFICIENCY", "PCSK1"
"PROOPIOMELANOCORTIN DEFICIENCY", "POMC"
"OBESITY", "ADRB2"
"OBESITY", "ADRB3"
"OBESITY", "UCP1"
"OBESITY", "MC4R"
"OBESITY", "ENPP1"
"OBESITY", "POMC"
"OBESITY", "SDC3"
"OBESITY", "PYY"
"OBESITY", "PPARG"
"OBESITY", "UCP3"
"OBESITY", "AGRP"
"OBESITY", "CART"
"OBESITY", "SIM1"
"OBESITY", "NR0B2"
"OBESITY", "GHRL"
"OBESITY", "PPARGC1B"
"OBESITY, HYPERPHAGIA, AND DEVELOPMENTAL DELAY ", "NTRK2"
"LEPTIN DEFICIENCY", "LEP"
"LEPTIN RECEPTOR DEFICIENCY", "LEPR"
"OCCIPITAL HORN SYNDROME", "ATP7A"
"OCCULT MACULAR DYSTROPHY", "RP1L1"
"ALBINISM, OCULAR, TYPE I", "GPR143"
"OCULOAURICULAR SYNDROME", "HMX1"
"ALBINISM, OCULOCUTANEOUS, TYPE IV", "SLC45A2"
"OCULODENTODIGITAL DYSPLASIA", "GJA1"
"OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE", "GJA1"
"OCULOPHARYNGEAL MUSCULAR DYSTROPHY", "PABPN1"
"ODONTOONYCHODERMAL DYSPLASIA", "WNT10A"
"OGUCHI DISEASE 1", "SAG"
"OGUCHI DISEASE 2", "GRK1"
"OLIGODONTIA-COLORECTAL CANCER SYNDROME", "AXIN2"
"PALMOPLANTAR KERATODERMA, MUTILATING, WITH PERIORIFICIAL KERATOTIC PLAQUES", "TRPV3"
"OMENN SYNDROME", "RAG1"
"OMENN SYNDROME", "RAG2"
"OMENN SYNDROME", "DCLRE1C"
"OMODYSPLASIA 1", "GPC6"
"OPITZ GBBB SYNDROME, X-LINKED", "MID1"
"OPITZ-KAVEGGIA SYNDROME", "MED12"
"OPTIC ATROPHY 1", "OPA1"
"OPTIC ATROPHY 3, AUTOSOMAL DOMINANT", "OPA3"
"OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY", "OPA1"
"OPTIC ATROPHY 7", "TMEM126A"
"PAPILLORENAL SYNDROME", "PAX2"
"OPTIC NERVE HYPOPLASIA, BILATERAL", "PAX6"
"OROFACIODIGITAL SYNDROME I", "OFD1"
"ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO", "OTC"
"OROFACIAL CLEFT 10", "SUMO1"
"OROFACIAL CLEFT 11", "BMP4"
"OROFACIAL CLEFT 5", "MSX1"
"OROFACIAL CLEFT 6, SUSCEPTIBILITY TO", "IRF6"
"RAPP-HODGKIN SYNDROME", "TP63"
"OROFACIODIGITAL SYNDROME IV", "TCTN3"
"OROTIC ACIDURIA", "UMPS"
"ORTHOSTATIC INTOLERANCE", "SLC6A2"
"OSSEOUS HETEROPLASIA, PROGRESSIVE", "GNAS"
"OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE", "ENPP1"
"OSTEOARTHRITIS WITH MILD CHONDRODYSPLASIA ", "COL2A1"
"OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS", "ACAN"
"OSTEOGENESIS IMPERFECTA, TYPE I", "COL1A1"
"OSTEOGENESIS IMPERFECTA, TYPE IX", "PPIB"
"OSTEOGENESIS IMPERFECTA, TYPE V", "IFITM5"
"OSTEOGENESIS IMPERFECTA, TYPE VI", "SERPINF1"
"OSTEOGENESIS IMPERFECTA, TYPE VII", "CRTAP"
"OSTEOGENESIS IMPERFECTA, TYPE VIII", "LEPRE1"
"OSTEOGENESIS IMPERFECTA, TYPE X", "SERPINH1"
"OSTEOGENESIS IMPERFECTA, TYPE XI", "FKBP10"
"OSTEOGENESIS IMPERFECTA, TYPE XII", "SP7"
"OSTEOGENESIS IMPERFECTA, TYPE XIII", "BMP1"
"OSTEOGLOPHONIC DYSPLASIA", "FGFR1"
"FAMILIAL EXPANSILE OSTEOLYSIS", "TNFRSF11A"
"OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS", "FAM123B"
"OSTEOPETROSIS, AUTOSOMAL DOMINANT 1", "LRP5"
"OSTEOPETROSIS, AUTOSOMAL DOMINANT 2", "CLCN7"
"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1", "TCIRG1"
"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2", "TNFSF11"
"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3", "CA2"
"OSTEOPETROSIS,  AUTOSOMAL RECESSIVE 4", "CLCN7"
"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5", "OSTM1"
"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6", "PLEKHM1"
"OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7", "TNFRSF11A"
"OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME", "LRP5"
"OSTEOGENIC SARCOMA", "TP53"
"OSTEOGENIC SARCOMA", "CHEK2"
"OSTEOGENIC SARCOMA", "RB1"
"OTOFACIOCERVICAL SYNDROME", "EYA1"
"OTOPALATODIGITAL SYNDROME, TYPE I", "FLNA"
"OTOPALATODIGITAL SYNDROME, TYPE II", "FLNA"
"OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA", "COL2A1"
"OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA", "COL11A2"
"OVARIAN DYSGENESIS 1", "FSHR"
"OVARIAN DYSGENESIS 2", "BMP15"
"OVARIAN DYSGENESIS 3", "PSMC3IP"
"OVARIAN HYPERSTIMULATION SYNDROME", "FSHR"
"TWINNING, DIZYGOTIC", "FSHR"
"PERIPHERAL DEMYELINATING NEUROPATHY, CENTRAL DYSMYELINATION, WAARDENBURG SYNDROME, AND HIRSCHSPRUNG DISEASE", "SOX10"
"PACHYONYCHIA CONGENITA, TYPE 2", "KRT6B"
"PACHYONYCHIA CONGENITA, TYPE 2", "KRT17"
"PACHYONYCHIA CONGENITA, TYPE 1", "KRT6A"
"PACHYONYCHIA CONGENITA, TYPE 1", "KRT16"
"PAGET DISEASE OF BONE", "SQSTM1"
"PAGET DISEASE OF BONE", "TNFRSF11A"
"PAGET DISEASE, JUVENILE", "TNFRSF11B"
"PALLISTER-HALL SYNDROME", "GLI3"
"PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND", "RSPO1"
"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC", "KRT1"
"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC", "KRT16"
"PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL", "KRT16"
"PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS", "GATA6"
"PANCREATIC AGENESIS, CONGENITAL", "IPF1"
"PANCREATIC CANCER", "KRAS"
"PANCREATIC CANCER", "TP53"
"PANCREATIC CANCER, SUSCEPTIBILITY TO, 2", "BRCA2"
"MELANOMA-PANCREATIC CANCER SYNDROME", "CDKN2A"
"PANCREATITIS, HEREDITARY", "SPINK1"
"PANCREATITIS, HEREDITARY", "PRSS1"
"PANCREATITIS, HEREDITARY", "CTRC"
"PANCREATITIS, HEREDITARY", "PRSS2"
"PANCREATITIS, HEREDITARY", "CFTR"
"PANHYPOPITUITARISM, X-LINKED", "SOX3"
"PAPILLON-LEFEVRE SYNDROME", "CTSC"
"PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA", "SDHB"
"PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA", "SDHC"
"PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA", "SDHD"
"PARAGANGLIOMAS 1", "SDHD"
"PARAGANGLIOMAS 2", "SDHAF2"
"PARAGANGLIOMAS 3", "SDHC"
"PARAGANGLIOMAS 4", "SDHB"
"PARAGANGLIOMAS 5", "SDHA"
"PARAMYOTONIA CONGENITA OF VON EULENBURG", "SCN4A"
"PARASTREMMATIC DWARFISM ", "TRPV4"
"PARATHYROID CARCINOMA", "HRPT2"
"PARIETAL FORAMINA", "MSX2"
"PARIETAL FORAMINA 2", "ALX4"
"PARIETAL FORAMINA WITH CLEIDOCRANIAL DYSPLASIA", "MSX2"
"PARKES WEBER SYNDROME", "RASA1"
"PARKINSON DISEASE 1, AUTOSOMAL DOMINANT", "SNCA"
"PARKINSON DISEASE 11, AUTOSOMAL DOMINANT", "GIGYF2"
"PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO", "HTRA2"
"PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE", "PLA2G6"
"PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET", "FBXO7"
"PARKINSON DISEASE 17", "VPS35"
"PARKINSON DISEASE 18", "EIF4G1"
"PARKINSON DISEASE 4, AUTOSOMAL DOMINANT", "SNCA"
"PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET", "PINK1"
"PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET", "DJ1"
"PARKINSON DISEASE 8, AUTOSOMAL DOMINANT", "LRRK2"
"KUFOR-RAKEB SYNDROME", "ATP13A2"
"PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE", "PRKN"
"PARKINSONISM-DYSTONIA, INFANTILE", "SLC6A3"
"PAROXYSMAL EXTREME PAIN DISORDER", "SCN9A"
"PAROXYSMAL NOCTURNAL HEMOGLOBINURIA", "PIGA"
"PAROXYSMAL NONKINESIGENIC DYSKINESIA 1", "MR1"
"PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME", "ARX"
"PEELING SKIN SYNDROME", "CDSN"
"PEELING SKIN SYNDROME, ACRAL TYPE", "TGM5"
"PELGER-HUET ANOMALY", "LBR"
"PELIZAEUS-MERZBACHER DISEASE", "PLP1"
"PENDRED SYNDROME", "SLC26A4"
"PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT", "TNFRSF1A"
"PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT ", "HTR1A"
"PERIODONTITIS, AGGRESSIVE, 1", "CTSC"
"PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS", "MYH14"
"HETEROTOPIA, PERIVENTRICULAR, AUTOSOMAL RECESSIVE", "ARFGEF2"
"PERLMAN SYNDROME", "DIS3L2"
"PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY", "ACOX1"
"PEROXISOME BIOGENESIS DISORDER 10A (ZELLWEGER)", "PEX3"
"PEROXISOME BIOGENESIS DISORDER 11A (ZELLWEGER)", "PEX13"
"PEROXISOME BIOGENESIS DISORDER 11B", "PEX13"
"PEROXISOME BIOGENESIS DISORDER 12A (ZELLWEGER)", "PEX19"
"PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)", "PEX14"
"PEROXISOME BIOGENESIS DISORDER 14B", "PEX11B"
"PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)", "PEX1"
"PEROXISOME BIOGENESIS DISORDER 1B", "PEX1"
"PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)", "PEX5"
"PEROXISOME BIOGENESIS DISORDER 2B", "PEX5"
"PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)", "PEX12"
"PEROXISOME BIOGENESIS DISORDER 3B", "PEX12"
"PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)", "PEX6"
"PEROXISOME BIOGENESIS DISORDER 4B", "PEX6"
"PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)", "PXMP3"
"PEROXISOME BIOGENESIS DISORDER 5B", "PXMP3"
"PEROXISOME BIOGENESIS DISORDER 6A (ZELLWEGER)", "PEX10"
"PEROXISOME BIOGENESIS DISORDER 6B", "PEX10"
"PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)", "PEX26"
"PEROXISOME BIOGENESIS DISORDER 7B", "PEX26"
"PEROXISOME BIOGENESIS DISORDER 8A (ZELLWEGER)", "PEX16"
"PEROXISOME BIOGENESIS DISORDER 8B", "PEX16"
"PEROXISOME BIOGENESIS DISORDER 9B", "PEX7"
"PERRAULT SYNDROME 2", "HARS2"
"PERRAULT SYNDROME 1", "HSD17B4"
"PERRY SYNDROME", "DCTN1"
"PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II", "AMHR2"
"PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II", "AMH"
"PETERS ANOMALY ", "PITX2"
"PETERS ANOMALY ", "CYP1B1"
"PETERS ANOMALY ", "PAX6"
"PETERS-PLUS SYNDROME", "B3GALTL; B3GTL"
"PEUTZ-JEGHERS SYNDROME", "STK11"
"PFEIFFER SYNDROME", "FGFR1"
"PFEIFFER SYNDROME", "FGFR2"
"CHROMOSOME 22q13.3 DELETION SYNDROME", "SHANK3"
"PHENYLKETONURIA", "PAH"
"PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO ", "MAX"
"PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO ", "RET"
"PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO ", "SDHB"
"PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO ", "GDNF"
"PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO ", "SDHD"
"PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO ", "KIF1B"
"PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO ", "VHL"
"PHEOCHROMOCYTOMA PHEOCHROMOCYTOMA, SUSCEPTIBILITY TO ", "TMEM127"
"PHOSPHOGLYCERATE DEHYDROGENASE DEFICIENCY", "PHGDH"
"PHOSPHOGLYCERATE KINASE 1 DEFICIENCY", "PGK1"
"GLYCOGEN STORAGE DISEASE IXb", "PHKB"
"PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY", "PSAT1"
"PHOSPHOSERINE PHOSPHATASE DEFICIENCY", "PSP"
"PICK DISEASE OF BRAIN", "PSEN1"
"PICK DISEASE OF BRAIN", "MAPT"
"PIEBALD TRAIT", "KIT"
"PIEBALD TRAIT", "SNAI2"
"PIERSON SYNDROME", "LAMB2"
"PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1", "PRKAR1A"
"PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2", "PDE11A"
"PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 3", "PDE8B"
"PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY", "CRB1"
"PITT-HOPKINS SYNDROME", "TCF4"
"PITT-HOPKINS-LIKE SYNDROME 2", "NRXN1"
"PITUITARY ADENOMA, ACTH-SECRETING", "AIP"
"PITUITARY ADENOMA, PROLACTIN-SECRETING", "AIP"
"PITUITARY HORMONE DEFICIENCY, COMBINED, 1", "POU1F1"
"PITUITARY HORMONE DEFICIENCY, COMBINED, 2", "PROP1"
"PITUITARY HORMONE DEFICIENCY, COMBINED, 3", "LHX3"
"PITUITARY HORMONE DEFICIENCY, COMBINED, 4", "LHX4"
"PITUITARY HORMONE DEFICIENCY, COMBINED, 6", "OTX2"
"PITYRIASIS RUBRA PILARIS", "CARD14"
"PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY", "PAI1"
"PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY", "RUNX1"
"PLATELET GLYCOPROTEIN IV DEFICIENCY", "CD36"
"PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY", "PLA2G7"
"PLATYSPONDYLIC LETHAL SKELETAL DYSPLASIA, TORRANCE TYPE", "COL2A1"
"PLEUROPULMONARY BLASTOMA", "DICER1"
"PNEUMOTHORAX, PRIMARY SPONTANEOUS", "FLCN"
"POIKILODERMA WITH NEUTROPENIA", "C16orf57"
"POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE", "FCYT"
"POLYCYSTIC KIDNEY DISEASE 2", "PKD2"
"POLYCYSTIC KIDNEY DISEASE 1", "PKD1"
"POLYCYSTIC LIVER DISEASE", "PRKCSH"
"POLYCYSTIC LIVER DISEASE", "SEC63"
"POLYCYTHEMIA VERA", "JAK2"
"POLYDACTYLY, POSTAXIAL, TYPE A1", "GLI3"
"POLYDACTYLY, PREAXIAL II", "LMBR1"
"POLYDACTYLY, PREAXIAL IV", "GLI3"
"POLYGLUCOSAN BODY DISEASE, ADULT FORM", "GBE1"
"POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY", "STRADA"
"POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA ", "TUBA8"
"POLYMICROGYRIA WITH SEIZURES", "RTTN"
"POLYMICROGYRIA, BILATERAL FRONTOPARIETAL", "GPR56"
"POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC", "TUBB2B"
"POLYNEUROPATHY, HEARING LOSS, ATAXIA, RETINITIS PIGMENTOSA, AND CATARACT", "ABHD12"
"POLYPOSIS SYNDROME, HEREDITARY MIXED, 2", "BMPR1A"
"PONTOCEREBELLAR HYPOPLASIA, TYPE 1A", "VRK1"
"PONTOCEREBELLAR HYPOPLASIA, TYPE 2A", "TSEN54"
"PONTOCEREBELLAR HYPOPLASIA, TYPE 2B", "TSEN2"
"PONTOCEREBELLAR HYPOPLASIA, TYPE 2C", "TSEN34"
"PONTOCEREBELLAR HYPOPLASIA, TYPE 2D", "SEPSECS"
"PONTOCEREBELLAR HYPOPLASIA, TYPE 4", "TSEN54"
"PONTOCEREBELLAR HYPOPLASIA, TYPE 1B", "EXOSC3"
"PONTOCEREBELLAR HYPOPLASIA, TYPE 6", "RARS2"
"PONTOCEREBELLAR HYPOPLASIA, TYPE 8", "CHMP1A"
"POPLITEAL PTERYGIUM SYNDROME", "IRF6"
"POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE", "RIPK4"
"PORENCEPHALY 1", "COL4A1"
"PORENCEPHALY 2", "COL4A2"
"POROKERATOSIS 3, DISSEMINATED SUPERFICIAL ACTINIC TYPE", "MVK"
"POROKERATOSIS 3, DISSEMINATED SUPERFICIAL ACTINIC TYPE", "SART3"
"PORPHYRIA CUTANEA TARDA", "UROD"
"PORPHYRIA CUTANEA TARDA", "HFE"
"PORPHYRIA VARIEGATA", "PPOX"
"PORPHYRIA VARIEGATA", "HFE"
"PORPHYRIA, ACUTE HEPATIC", "ALAD"
"PORPHYRIA, ACUTE INTERMITTENT", "HMBS"
"PORPHYRIA, CONGENITAL ERYTHROPOIETIC", "UROS"
"PRADER-WILLI SYNDROME", "SNRPN"
"PRADER-WILLI SYNDROME", "NDN"
"PRECOCIOUS PUBERTY, CENTRAL ", "KISS1R"
"PREECLAMPSIA/ECLAMPSIA 4", "STOX1"
"PREECLAMPSIA/ECLAMPSIA 5", "CORIN"
"PREMATURE OVARIAN FAILURE 1", "FMR1"
"PREMATURE OVARIAN FAILURE 2B", "FLJ22792"
"PREMATURE OVARIAN FAILURE 3", "FOXL2"
"PREMATURE OVARIAN FAILURE 5", "NOBOX"
"PREMATURE OVARIAN FAILURE 6", "FIGLA"
"PREMATURE OVARIAN FAILURE 7", "NR5A1"
"PREMATURE OVARIAN FAILURE 2A", "DIAPH2"
"PRIMARY LATERAL SCLEROSIS, JUVENILE", "ALS2"
"SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES ", "PRNP"
"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 2", "SLC25A4"
"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 4", "POLG2"
"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 5", "RRM2B"
"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 1", "POLG"
"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT, 3", "C10orf2"
"PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE", "POLG"
"PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB", "TRPM4"
"PROLIDASE DEFICIENCY ", "PEPD"
"PROLIFERATIVE VASCULOPATHY AND HYDRANENCEPHALY-HYDROCEPHALY SYNDROME", "FLVCR2"
"PROPERDIN DEFICIENCY, X-LINKED", "PFC"
"PROPIONIC ACIDEMIA", "PCCA"
"PROPIONIC ACIDEMIA", "PCCB"
"PROSTATE CANCER, HEREDITARY, 1", "RNASEL"
"PROSTATE CANCER ", "ZFHX3"
"PROSTATE CANCER ", "MSR1"
"PROSTATE CANCER ", "CDH1"
"PROSTATE CANCER ", "AR"
"PROSTATE CANCER ", "MXI1"
"PROSTATE CANCER ", "BRCA2"
"PROSTATE CANCER ", "PTEN"
"PROSTATE CANCER ", "KLF6"
"PROSTATE CANCER ", "MAD1L1"
"PROSTATE CANCER ", "CHEK2"
"PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY", "EPHB2"
"PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS ", "CLCN5"
"PROTEUS SYNDROME", "AKT1"
"PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED", "ALAS2"
"PROTOPORPHYRIA, ERYTHROPOIETIC", "FECH"
"CORPUS CALLOSUM, AGENESIS OF, WITH ABNORMAL GENITALIA", "ARX"
"PSEUDOACHONDROPLASIA", "COMP"
"17-BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY", "HSD17B3"
"PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL DOMINANT", "NR3C2"
"PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE", "SCNN1A"
"PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE", "SCNN1B"
"PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE", "SCNN1G"
"PSEUDOHYPOALDOSTERONISM, TYPE IIB", "WNK4"
"PSEUDOHYPOALDOSTERONISM, TYPE IIC", "WNK1"
"PSEUDOHYPOALDOSTERONISM, TYPE IID", "KLHL3"
"PSEUDOHYPOALDOSTERONISM, TYPE IIE", "CUL3"
"PSEUDOHYPOPARATHYROIDISM, TYPE IA", "GNAS"
"PSEUDOHYPOPARATHYROIDISM, TYPE IB", "GNAS"
"PSEUDOHYPOPARATHYROIDISM, TYPE IB", "STX16"
"PSEUDOHYPOPARATHYROIDISM, TYPE IB", "GNASAS1"
"PSEUDOHYPOPARATHYROIDISM, TYPE IC", "GNAS"
"PSEUDOPSEUDOHYPOPARATHYROIDISM", "GNAS"
"PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS", "SRD5A2"
"PSEUDOXANTHOMA ELASTICUM", "ABCC6"
"PSEUDOXANTHOMA ELASTICUM", "XYLT1"
"PSEUDOXANTHOMA ELASTICUM", "XYLT2"
"PSEUDOXANTHOMA ELASTICUM, FORME FRUSTE", "ABCC6"
"PSEUDOXANTHOMA ELASTICUM-LIKE DISORDER WITH MULTIPLE COAGULATION FACTOR DEFICIENCY", "GGCX"
"PUSTULAR PSORIASIS, GENERALIZED", "IL36RN"
"PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM", "SNIP1"
"PULMONARY ALVEOLAR MICROLITHIASIS ", "SLC34A2"
"PULMONARY FIBROSIS, IDIOPATHIC", "SFTPA1"
"PULMONARY FIBROSIS, IDIOPATHIC", "SFTPA2"
"PULMONARY FIBROSIS, IDIOPATHIC", "MUC5B"
"PULMONARY HYPERTENSION, PRIMARY, 1", "BMPR2"
"PULMONARY HYPERTENSION, PRIMARY, 1", "MADH9"
"PULMONARY VENOOCCLUSIVE DISEASE", "BMPR2"
"PYCNODYSOSTOSIS", "CTSK"
"MYD88 DEFICIENCY", "MYD88"
"PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE", "PSTPIP1"
"PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY", "PNPO"
"PYROPOIKILOCYTOSIS, HEREDITARY", "SPTA1"
"PYRUVATE CARBOXYLASE DEFICIENCY", "PC"
"PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY", "PDHA1"
"PYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY", "PDHB"
"PYRUVATE DEHYDROGENASE E2 DEFICIENCY", "DLAT"
"PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY", "LIAS"
"PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY", "PDP1"
"PYRUVATE KINASE DEFICIENCY OF RED CELLS", "PKLR"
"QUEBEC PLATELET DISORDER", "PLAU"
"RAPADILINO SYNDROME ", "RECQL4"
"RETINITIS PIGMENTOSA 62", "MAK"
"RIDDLE SYNDROME", "RNF168"
"PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES", "INSR"
"RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA", "HOXA11"
"RAINE SYNDROME", "FAM20C"
"RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1", "RNF212"
"REFSUM DISEASE, CLASSIC", "PHYH"
"RENAL ADYSPLASIA", "RET"
"RENAL ADYSPLASIA", "UPK3A"
"RENAL CELL CARCINOMA, NONPAPILLARY", "HNF1A"
"RENAL CELL CARCINOMA, NONPAPILLARY", "HNF1B"
"RENAL CELL CARCINOMA, NONPAPILLARY", "OGG1"
"RENAL CELL CARCINOMA, NONPAPILLARY", "RNF139"
"RENAL CELL CARCINOMA, NONPAPILLARY", "FLCN"
"RENAL CELL CARCINOMA, NONPAPILLARY", "VHL"
"RENAL CELL CARCINOMA, Xp11-ASSOCIATED", "TFE3"
"RENAL CELL CARCINOMA, PAPILLARY, 1", "MET"
"RENAL CELL CARCINOMA, PAPILLARY, 1", "PRCC"
"RENAL CYSTS AND DIABETES SYNDROME", "HNF1B"
"RENAL GLUCOSURIA", "SLC5A2"
"RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE NERVE DEAFNESS", "ATP6B1"
"RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT", "SLC4A1"
"RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA", "SLC4A1"
"RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE", "ATP6V0A4"
"RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND MENTAL RETARDATION", "SLC4A4"
"RENAL TUBULAR DYSGENESIS", "AGT"
"RENAL TUBULAR DYSGENESIS", "AGTR1"
"RENAL TUBULAR DYSGENESIS", "ACE"
"RENAL TUBULAR DYSGENESIS", "REN"
"RENAL-HEPATIC-PANCREATIC DYSPLASIA", "NPHP3"
"RENPENNING SYNDROME 1", "PQBP1"
"RESTRICTIVE DERMOPATHY, LETHAL", "LMNA"
"RESTRICTIVE DERMOPATHY, LETHAL", "ZMPSTE24"
"RETICULAR DYSGENESIS", "AK2"
"RETINAL ARTERIAL MACROANEURYSM WITH SUPRAVALVULAR PULMONIC STENOSIS", "IGFBP7"
"RETINAL CONE DYSTROPHY 3B", "KCNV2"
"RETINAL CONE DYSTROPHY 4", "CACNA2D4"
"LATE-ONSET RETINAL DEGENERATION", "C1QTNF5"
"RETINITIS PIGMENTOSA 1", "RP1"
"RETINITIS PIGMENTOSA 10", "IMPDH1"
"RETINITIS PIGMENTOSA 11", "PRPF31"
"RETINITIS PIGMENTOSA 13", "PRPF8"
"RETINITIS PIGMENTOSA 14", "TULP1"
"RETINITIS PIGMENTOSA 17", "CA4"
"RETINITIS PIGMENTOSA 18", "HPRP3"
"RETINITIS PIGMENTOSA 19", "ABCA4"
"RETINITIS PIGMENTOSA 2", "RP2"
"RETINITIS PIGMENTOSA 20", "RPE65"
"RETINITIS PIGMENTOSA 25", "EYS"
"RETINITIS PIGMENTOSA 26", "CERKL"
"RETINITIS PIGMENTOSA 27", "NRL"
"RETINITIS PIGMENTOSA 28", "FAM161A"
"RETINITIS PIGMENTOSA 3", "RPGR"
"RETINITIS PIGMENTOSA 30", "FSCN2"
"RETINITIS PIGMENTOSA 31", "TOPORS"
"RETINITIS PIGMENTOSA 33", "SNRNP200"
"RETINITIS PIGMENTOSA 35", "SEMA4A"
"RETINITIS PIGMENTOSA 36", "PRCD"
"RETINITIS PIGMENTOSA 37", "NR2E3"
"RETINITIS PIGMENTOSA 38", "MERTK"
"RETINITIS PIGMENTOSA 39", "USH2A"
"RETINITIS PIGMENTOSA 4", "RHO"
"RETINITIS PIGMENTOSA 41", "PROM1"
"RETINITIS PIGMENTOSA 42", "KLHL7"
"RETINITIS PIGMENTOSA 43", "PDE6A"
"RETINITIS PIGMENTOSA 44", "RGR"
"RETINITIS PIGMENTOSA 45", "CNGB1"
"RETINITIS PIGMENTOSA 46", "IDH3B"
"RETINITIS PIGMENTOSA 47", "SAG"
"RETINITIS PIGMENTOSA 48", "GUCA1B"
"RETINITIS PIGMENTOSA 49", "CNGA1"
"RETINITIS PIGMENTOSA 51", "TTC8"
"RETINITIS PIGMENTOSA 54", "C2orf71"
"RETINITIS PIGMENTOSA 55", "ARL6"
"RETINITIS PIGMENTOSA 57", "PDE6G"
"RETINITIS PIGMENTOSA 58", "ZNF513"
"RETINITIS PIGMENTOSA 59", "DHDDS"
"RETINITIS PIGMENTOSA 60", "PRPF6"
"RETINITIS PIGMENTOSA 61", "CLRN1"
"RETINITIS PIGMENTOSA 7", "PRPH2"
"RETINITIS PIGMENTOSA 9", "RP9"
"RETINITIS PIGMENTOSA, X-LINKED, AND SINORESPIRATORY INFECTIONS, WITH OR WITHOUT DEAFNESS ", "RPGR"
"RETINITIS PIGMENTOSA 50", "BEST1"
"RETINITIS PIGMENTOSA 12", "CRB1"
"RETINITIS PIGMENTOSA 40", "PDE6B"
"RETINOBLASTOMA", "RB1"
"RETINOSCHISIS 1, X-LINKED, JUVENILE", "RS1"
"RETT SYNDROME", "MECP2"
"RETT SYNDROME, CONGENITAL VARIANT ", "FOXG1"
"REVESZ SYNDROME", "TINF2"
"REYNOLDS SYNDROME", "LBR"
"RHABDOID TUMOR PREDISPOSITION SYNDROME 1", "SMARCB1"
"RHABDOID TUMOR PREDISPOSITION SYNDROME 2", "SMARCA4"
"RHABDOMYOSARCOMA 2", "FOXO1A"
"RHABDOMYOSARCOMA 2", "PAX7"
"RHABDOMYOSARCOMA 2", "PAX3"
"RHABDOMYOSARCOMA 1", "SLC22A1L"
"RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1", "PEX7"
"RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3", "AGPS"
"RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY ", "RPIA"
"VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1B", "CYP2R1"
"VITAMIN D-DEPENDENT RICKETS, TYPE 2A", "VDR"
"RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL", "BRAT1"
"RING DERMOID OF CORNEA", "PITX2"
"RIPPLING MUSCLE DISEASE", "CAV3"
"ROBERTS SYNDROME", "ESCO2"
"ROBINOW SYNDROME, AUTOSOMAL DOMINANT", "WNT5A"
"ROBINOW SYNDROME, AUTOSOMAL RECESSIVE", "ROR2"
"ROBINOW-SORAUF SYNDROME", "TWIST1"
"ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED", "SRPX2"
"ROTHMUND-THOMSON SYNDROME", "RECQL4"
"ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA", "MPZ"
"ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA", "PMP22"
"RUBINSTEIN-TAYBI SYNDROME 2", "EP300"
"RUBINSTEIN-TAYBI SYNDROME 1", "CREBBP"
"OHDO SYNDROME, SBBYS VARIANT", "KAT6B"
"SC PHOCOMELIA SYNDROME", "ESCO2"
"SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE", "JAK3"
"SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA", "COL2A1"
"SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE", "TRPV4"
"BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES", "PAPSS2"
"46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS", "WNT4"
"SEIZURES, SENSORINEURAL DEAFNESS, ATAXIA, MENTAL RETARDATION, AND ELECTROLYTE IMBALANCE", "KCNJ10"
"SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME", "HRAS"
"SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME", "KRAS"
"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE", "COL2A1"
"TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS", "FAM58A"
"SAETHRE-CHOTZEN SYNDROME", "FGFR2"
"SAETHRE-CHOTZEN SYNDROME", "TWIST1"
"SIALURIA, FINNISH TYPE", "SLC17A5"
"SANDHOFF DISEASE", "HEXB"
"SARCOIDOSIS, EARLY-ONSET", "NOD2"
"SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION ", "FGFR2"
"SCAPULOPERONEAL MYOPATHY, X-LINKED DOMINANT", "FHL1"
"SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY", "TRPV4"
"SCAPULOPERONEAL MYOPATHY, MYH7-RELATED", "MYH7"
"SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE", "DES"
"IMMUNOOSSEOUS DYSPLASIA, SCHIMKE TYPE", "SMARCAL1"
"SCHINDLER DISEASE, TYPE I", "NAGA"
"SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME", "SETBP1"
"SCHIZENCEPHALY ", "EMX2"
"SCHIZENCEPHALY ", "SHH"
"SCHIZENCEPHALY ", "SIX3"
"SCHNECKENBECKEN DYSPLASIA", "SLC35D1"
"SCHOPF-SCHULZ-PASSARGE SYNDROME", "WNT10A"
"SCHWANNOMATOSIS", "NF2"
"SCHWARTZ-JAMPEL SYNDROME, TYPE 1", "HSPG2"
"SCLEROSTEOSIS 2", "LRP4"
"SCLEROSTEOSIS 1", "SOST"
"SCOTT SYNDROME", "ANO6"
"SEA-BLUE HISTIOCYTE DISEASE", "APOE"
"SEBASTIAN SYNDROME", "MYH9"
"SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS ", "ZNF750"
"SECKEL SYNDROME 1", "ATR"
"SECKEL SYNDROME 2", "RBBP8"
"SECKEL SYNDROME 4", "CENPJ"
"SECKEL SYNDROME 5", "CEP152"
"SECKEL SYNDROME 6", "CEP63"
"SECKEL SYNDROME 7", "NIN"
"SEGAWA SYNDROME, AUTOSOMAL RECESSIVE", "TH"
"SEIZURES, BENIGN FAMILIAL INFANTILE, 2", "PRRT2"
"SEIZURES, BENIGN FAMILIAL INFANTILE, 3", "SCN2A"
"SEIZURES, BENIGN FAMILIAL NEONATAL, 2", "KCNQ3"
"SELECTIVE T-CELL DEFECT", "ZAP70"
"SENGERS SYNDROME", "AGK"
"SENIOR-LOKEN SYNDROME 4", "NPHP4"
"SENIOR-LOKEN SYNDROME 5", "IQCB1"
"SENIOR-LOKEN SYNDROME 6", "CEP290"
"SENIOR-LOKEN SYNDROME 7", "SDCCAG8"
"SENIOR-LOKEN SYNDROME 1", "NPHP1"
"FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE", "TWIST2"
"SEVERE COMBINED IMMUNODEFICIENCY WITH MICROCEPHALY, GROWTH RETARDATION,", "NHEJ1"
"SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION", "LIG4"
"SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION", "DCLRE1C"
"SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE", "RAG1"
"SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE", "RAG2"
"SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE", "IL7R"
"SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE", "PTPRC"
"SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE", "CD3D"
"SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE", "CD3E"
"SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED", "IL2RG"
"SHORT QT SYNDROME 1", "KCNH2"
"SHORT QT SYNDROME 2", "KCNQ1"
"SHORT QT SYNDROME 3", "KCNJ2"
"SHORT RIB-POLYDACTYLY SYNDROME, TYPE II", "DYNC2H1"
"SHORT RIB-POLYDACTYLY SYNDROME, TYPE II", "NEK1"
"SHORT RIB-POLYDACTYLY SYNDROME, TYPE III", "DYNC2H1"
"SHORT RIB-POLYDACTYLY SYNDROME, TYPE V", "WDR35"
"SHORT STATURE, IDIOPATHIC, AUTOSOMAL", "GHR"
"SHORT STATURE, IDIOPATHIC, AUTOSOMAL", "GHSR"
"SHORT STATURE, IDIOPATHIC, X-LINKED", "SHOX"
"SHORT STATURE, IDIOPATHIC, X-LINKED", "SHOXY"
"SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS", "POC1A"
"SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY", "NBAS"
"SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME", "SKI"
"SHWACHMAN-DIAMOND SYNDROME", "SBDS"
"INFANTILE SIALIC ACID STORAGE DISORDER", "SLC17A5"
"NEURAMINIDASE DEFICIENCY", "NEU1"
"SIALURIA", "GNE"
"SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE", "SCN5A"
"SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT", "HCN4"
"SICKLE CELL ANEMIA ", "HBB"
"SPASTIC PARAPLEGIA 17", "BSCL2"
"SILVER-RUSSELL SYNDROME", "H19"
"SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1", "GPC3"
"SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2", "OFD1"
"SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR", "SHH"
"SINOATRIAL NODE DYSFUNCTION AND DEAFNESS", "CACNA1D"
"SITOSTEROLEMIA", "ABCG5"
"SITOSTEROLEMIA", "ABCG8"
"SJOGREN-LARSSON SYNDROME", "ALDH3A2"
"SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION ", "ZBTB16"
"SKIN FRAGILITY-WOOLLY HAIR SYNDROME", "DSP"
"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 11", "TYRP1"
"SLOWED NERVE CONDUCTION VELOCITY, AUTOSOMAL DOMINANT ", "ARHGEF10"
"SMALL CELL CANCER OF THE LUNG", "RB1"
"SMALL PATELLA SYNDROME", "TBX4"
"SMITH-LEMLI-OPITZ SYNDROME", "DHCR7"
"SMITH-MAGENIS SYNDROME", "RAI1"
"SMITH-MCCORT DYSPLASIA", "DYM"
"VITREORETINAL DEGENERATION, SNOWFLAKE TYPE", "KCNJ13"
"FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY", "TIMP3"
"SOTOS SYNDROME 1", "NSD1"
"SOTOS SYNDROME 2", "NFIX"
"SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE", "SACS"
"SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING", "ALS2"
"SPASTIC PARAPLEGIA 10, AUTOSOMAL DOMINANT", "KIF5A"
"SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE", "SPG11"
"SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT", "RTN2"
"SPASTIC PARAPLEGIA 13, AUTOSOMAL DOMINANT", "HSPD1"
"SPASTIC PARAPLEGIA 15, AUTOSOMAL RECESSIVE", "ZFYVE26"
"SPASTIC PARAPLEGIA 18, AUTOSOMAL RECESSIVE", "ERLIN2"
"SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE", "KIF1A"
"SPASTIC PARAPLEGIA 31, AUTOSOMAL DOMINANT", "REEP1"
"SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT", "ZFYVE27"
"SPASTIC PARAPLEGIA 35, AUTOSOMAL RECESSIVE", "FA2H"
"SPASTIC PARAPLEGIA 39, AUTOSOMAL RECESSIVE", "PNPLA6"
"SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT", "ATL1"
"SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT", "SPAST"
"SPASTIC PARAPLEGIA 42, AUTOSOMAL DOMINANT", "SLC33A1"
"SPASTIC PARAPLEGIA 47, AUTOSOMAL RECESSIVE", "AP4B1"
"SPASTIC PARAPLEGIA 48, AUTOSOMAL RECESSIVE", "AP5A1"
"SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE", "AP4M1"
"SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE", "AP4E1"
"SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE", "AP4S1"
"SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE", "VPS37A"
"SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE", "CYP7B1"
"SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT", "NIPA1"
"SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE", "PGN"
"SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT", "KIAA0196"
"SPASTIC PARAPLEGIA 44, AUTOSOMAL RECESSIVE", "GJC2"
"SPASTIC PARAPLEGIA 2, X-LINKED", "PLP1"
"SPECIFIC GRANULE DEFICIENCY", "CEBPE"
"SPEECH-LANGUAGE DISORDER 1", "FOXP2"
"SPERMATOGENIC FAILURE 10", "SEPT12"
"SPERMATOGENIC FAILURE 4", "SYCP3"
"SPERMATOGENIC FAILURE 5", "STK13"
"SPERMATOGENIC FAILURE 6", "SPATA16"
"SPERMATOGENIC FAILURE 7", "CATSPER1"
"SPERMATOGENIC FAILURE 8", "NR5A1"
"SPERMATOGENIC FAILURE 9", "DPY19L2"
"SPERMATOGENIC FAILURE, Y-LINKED, 2", "USP9Y"
"SPHEROCYTOSIS, TYPE 5", "EPB42"
"SPHEROCYTOSIS, TYPE 1", "ANK1"
"SPHEROCYTOSIS, TYPE 3", "SPTA1"
"SPHEROCYTOSIS, TYPE 4", "SLC4A1"
"SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1", "AR"
"SPINAL MUSCULAR ATROPHY WITH PROGRESSIVE MYOCLONIC EPILEPSY", "ASAH1"
"SPINAL MUSCULAR ATROPHY, X-LINKED 2", "UBA1"
"SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3", "ATP7A"
"SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4", "PLEKHG5"
"SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 5", "DNAJB2"
"SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE", "TRPV4"
"SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL DOMINANT", "VAPB"
"SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY, AUTOSOMAL DOMINANT", "DYNC1H1"
"SPINAL MUSCULAR ATROPHY, TYPE I", "SMN1"
"SPINAL MUSCULAR ATROPHY, TYPE II", "SMN1"
"SPINAL MUSCULAR ATROPHY, TYPE III", "SMN1"
"SPINAL MUSCULAR ATROPHY, TYPE III", "SMN2"
"SPINAL MUSCULAR ATROPHY, TYPE IV", "SMN1"
"SPINOCEREBELLAR ATAXIA 1", "ATXN1"
"SPINOCEREBELLAR ATAXIA 10", "ATXN10"
"SPINOCEREBELLAR ATAXIA 11", "TTBK2"
"SPINOCEREBELLAR ATAXIA 12", "PPP2R2B"
"SPINOCEREBELLAR ATAXIA 13", "KCNC3"
"SPINOCEREBELLAR ATAXIA 14", "PRKCG"
"SPINOCEREBELLAR ATAXIA 15", "ITPR1"
"SPINOCEREBELLAR ATAXIA 17", "TBP"
"SPINOCEREBELLAR ATAXIA 2", "ATXN2"
"SPINOCEREBELLAR ATAXIA 23", "PDYN"
"SPINOCEREBELLAR ATAXIA 27", "FGF14"
"SPINOCEREBELLAR ATAXIA 28", "AFG3L2"
"SPINOCEREBELLAR ATAXIA 31", "BEAN"
"SPINOCEREBELLAR ATAXIA 35", "TGM6"
"SPINOCEREBELLAR ATAXIA 36", "NOP56"
"SPINOCEREBELLAR ATAXIA 5", "SPTBN2"
"SPINOCEREBELLAR ATAXIA 6", "CACNA1A"
"SPINOCEREBELLAR ATAXIA 7", "ATXN7"
"SPINOCEREBELLAR ATAXIA 8", "ATXN8OS"
"SPINOCEREBELLAR ATAXIA 8", "ATXN8"
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10", "ANO10"
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 11", "SYT14"
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13", "GRM1"
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 5", "ZNF592"
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8", "SYNE1"
"SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY", "TDP1"
"SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS", "DLX5"
"SPLIT-HAND/FOOT MALFORMATION 4", "TP63"
"SPLIT-HAND/FOOT MALFORMATION 6", "WNT10B"
"SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA", "NKX3-2"
"SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME", "FLNB"
"SPONDYLOCHEIRODYSPLASIA, EHLERS-DANLOS SYNDROME-LIKE", "SLC39A13"
"SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE", "HES7"
"SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE", "MESP2"
"SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE", "LFNG"
"SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE", "DLL3"
"SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION", "ACP5"
"SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 2", "KIF22"
"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MATRILIN-3 RELATED", "MATN3"
"SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE", "ACAN"
"SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED", "TRAPPC2"
"SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS", "CHST3"
"SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE", "ACAN"
"SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE", "DDR2"
"SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE", "TRPV4"
"SPONDYLOPERIPHERAL DYSPLASIA", "COL2A1"
"SQUAMOUS CELL CARCINOMA, HEAD AND NECK", "ING1"
"SQUAMOUS CELL CARCINOMA, HEAD AND NECK", "PTEN"
"SQUAMOUS CELL CARCINOMA, HEAD AND NECK", "TNFRSF10B"
"STAPES ANKYLOSIS WITH BROAD THUMB AND TOES", "NOG"
"STARGARDT DISEASE 4", "PROM1"
"STEATOCYSTOMA MULTIPLEX", "KRT17"
"STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR", "COL2A1"
"STICKLER SYNDROME, TYPE I", "COL2A1"
"STICKLER SYNDROME, TYPE II", "COL11A1"
"STICKLER SYNDROME, TYPE III", "COL11A2"
"STICKLER SYNDROME, TYPE IV", "COL9A1"
"STICKLER SYNDROME, TYPE V", "COL9A2"
"STIFF SKIN SYNDROME", "FBN1"
"STOCCO DOS SANTOS X-LINKED MENTAL RETARDATION SYNDROME", "SHROOM4"
"STRIATAL DEGENERATION, AUTOSOMAL DOMINANT", "PDE8B"
"STRIATONIGRAL DEGENERATION, INFANTILE", "NUP62"
"STUVE-WIEDEMANN SYNDROME", "LIFR"
"SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY", "ALDH5A1"
"SUCCINYL-CoA:3-OXOACID CoA TRANSFERASE DEFICIENCY", "OXCT1"
"SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL", "SI"
"SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTES SYNDROME", "TSPYL1"
"SULFOCYSTEINURIA", "SUOX"
"PARKINSON-DEMENTIA SYNDROME", "MAPT"
"SUPRANUCLEAR PALSY, PROGRESSIVE, 1", "MAPT"
"SUPRAVALVULAR AORTIC STENOSIS", "ELN"
"SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 1", "SFTPB"
"SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2", "SFTPC"
"SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3", "ABCA3"
"SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4", "CSF2RA"
"SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5", "CSF2RB"
"SVEINSSON CHORIORETINAL ATROPHY", "TEAD1"
"SYMPHALANGISM, PROXIMAL", "GDF5"
"SYMPHALANGISM, PROXIMAL", "NOG"
"SYNDACTYLY, TYPE III", "GJA1"
"SYNDACTYLY, TYPE IV", "LMBR1"
"SYNDACTYLY, TYPE V", "HOXD13"
"SYNPOLYDACTYLY 1", "HOXD13"
"SYNPOLYDACTYLY 2", "FBLN1"
"SYSTEMIC LUPUS ERYTHEMATOSUS 16", "DNASE1L3"
"T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY ", "FOXN1"
"T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITH OR WITHOUT CARDIAC MALFORMATIONS", "STK4"
"TARP SYNDROME", "RBM10"
"TANGIER DISEASE", "ABCA1"
"TARSAL-CARPAL COALITION SYNDROME", "NOG"
"TELANGIECTASIA, HEREDITARY HEMORRHAGIC, OF RENDU, OSLER, AND WEBER", "ENG"
"TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2", "ACVRL1"
"TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME", "CHSY1"
"TERMINAL OSSEOUS DYSPLASIA", "FLNA"
"TETRAAMELIA, AUTOSOMAL RECESSIVE ", "WNT3"
"TETRALOGY OF FALLOT", "NKX2-5"
"TETRALOGY OF FALLOT", "GATA6"
"TETRALOGY OF FALLOT", "JAG1"
"TETRALOGY OF FALLOT", "GDF1"
"TETRALOGY OF FALLOT", "ZFPM2"
"BETA-THALASSEMIA ", "HBB"
"BETA-THALASSEMIA ", "LCRB"
"ALPHA-THALASSEMIA ", "HBA1"
"ALPHA-THALASSEMIA ", "HBA2"
"BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE", "HBB"
"THANATOPHORIC DYSPLASIA, TYPE I", "FGFR3"
"THANATOPHORIC DYSPLASIA, TYPE II", "FGFR3"
"THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE)", "SLC19A3"
"THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE)", "SLC25A19"
"THIAMINE METABOLISM DYSFUNCTION SYNDROME 5 (EPISODIC ENCEPHALOPATHY TYPE)", "TPK1"
"THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME", "SLC19A2"
"THREE M SYNDROME 3", "CCDC8"
"THROMBOCYTHEMIA 1", "THPO"
"THROMBOCYTHEMIA 1", "SH2B3"
"THROMBOCYTHEMIA 2", "MPL"
"THROMBOCYTHEMIA 3", "JAK2"
"THROMBOCYTOPENIA 2", "MASTL"
"THROMBOCYTOPENIA 2", "ANKRD26"
"THROMBOCYTOPENIA 4", "CYCS"
"THROMBOCYTOPENIA WITH BETA-THALASSEMIA, X-LINKED", "GATA1"
"THROMBOCYTOPENIA 1", "WAS"
"THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA", "GATA1"
"AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL", "MPL"
"THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME", "RBM8A"
"THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY", "HRG"
"THROMBOPHILIA DUE TO ACTIVATED PROTEIN C RESISTANCE", "F5"
"ANTITHROMBIN III DEFICIENCY", "SERPINC1"
"HEPARIN COFACTOR II DEFICIENCY", "HCF2"
"THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT", "PROC"
"THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE", "PROC"
"THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT", "PROS1"
"THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE", "PROS1"
"THROMBOPHILIA DUE TO THROMBIN DEFECT", "F13A1"
"THROMBOPHILIA DUE TO THROMBIN DEFECT", "F2"
"THROMBOPHILIA DUE TO THROMBIN DEFECT", "HABP2"
"THROMBOPHILIA DUE TO THROMBIN DEFECT", "MTHFR"
"THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT", "THBD"
"THROMBOPHILIA, X-LINKED, DUE TO FACTOR IX DEFECT", "F9"
"THROMBOTIC THROMBOCYTOPENIC PURPURA, CONGENITAL", "ADAMTS13"
"THYROID DYSHORMONOGENESIS 6", "DUOX2"
"THYROID CARCINOMA, FOLLICULAR", "NRAS"
"THYROID CARCINOMA, FOLLICULAR", "HRAS"
"THYROID CARCINOMA, FOLLICULAR", "PTEN"
"THYROID CARCINOMA, FOLLICULAR", "MINPP1"
"THYROID CARCINOMA, PAPILLARY", "PRKAR1A"
"THYROID CARCINOMA, PAPILLARY", "PCM1"
"THYROID CARCINOMA, PAPILLARY", "NCOA4"
"THYROID CARCINOMA, PAPILLARY", "TRIM24"
"THYROID CARCINOMA, PAPILLARY", "TRIM33"
"THYROID CARCINOMA, PAPILLARY", "GOLGA5"
"THYROID DYSHORMONOGENESIS 1", "SLC5A5"
"THYROID DYSHORMONOGENESIS 2A", "TPO"
"THYROID DYSHORMONOGENESIS 3", "TG"
"THYROID DYSHORMONOGENESIS 4", "IYD"
"THYROID DYSHORMONOGENESIS 5", "DUOXA2"
"THYROID HORMONE METABOLISM, ABNORMAL ", "SECISBP2"
"THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT", "THRB"
"THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE", "THRB"
"THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY", "THRB"
"TIBIAL MUSCULAR DYSTROPHY, TARDIVE", "TTN"
"TIETZ SYNDROME", "MITF"
"TIMOTHY SYNDROME", "CACNA1C"
"TN SYNDROME", "C1GALT1C1"
"NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8", "COL7A1"
"TOOTH AGENESIS, SELECTIVE, 1", "MSX1"
"TOOTH AGENESIS, SELECTIVE, 3", "PAX9"
"TOOTH AGENESIS, SELECTIVE, 4", "WNT10A"
"TOOTH AGENESIS, SELECTIVE, 6", "LTBP3"
"TOOTH AGENESIS, SELECTIVE, X-LINKED, 1", "ED1"
"TORG-WINCHESTER SYNDROME", "MMP2"
"GILLES DE LA TOURETTE SYNDROME", "SLITRK1"
"TOWNES-BROCKS SYNDROME", "SALL1"
"TRANSALDOLASE DEFICIENCY ", "TALDO1"
"TRANSCOBALAMIN II DEFICIENCY", "TCN2"
"TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN", "COL7A1"
"TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 3", "GDF1"
"TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 1", "MED13L"
"TRANSPOSITION OF THE GREAT ARTERIES, DEXTRO-LOOPED 2", "CFC1"
"TREACHER COLLINS SYNDROME 1", "TCOF1"
"TREACHER COLLINS SYNDROME 2", "POLR1D"
"TREACHER COLLINS SYNDROME 3", "POLR1C"
"TREMOR, HEREDITARY ESSENTIAL, 4", "FUS"
"TRICHODENTOOSSEOUS SYNDROME", "DLX3"
"TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1", "CYLD"
"TRICHOHEPATOENTERIC SYNDROME 1", "TTC37"
"TRICHOHEPATOENTERIC SYNDROME 2", "SKIV2L"
"TRICHORHINOPHALANGEAL SYNDROME, TYPE I", "TRPS1"
"TRICHORHINOPHALANGEAL SYNDROME, TYPE III", "TRPS1"
"TRICHOTHIODYSTROPHY, PHOTOSENSITIVE", "ERCC2"
"TRICHOTHIODYSTROPHY, PHOTOSENSITIVE", "ERCC3"
"TRICHOTHIODYSTROPHY, PHOTOSENSITIVE", "GTF2H5"
"TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1", "C7orf11"
"TRICHOTILLOMANIA", "SLITRK1"
"TRIFUNCTIONAL PROTEIN DEFICIENCY", "HADHB"
"TRIFUNCTIONAL PROTEIN DEFICIENCY", "HADHA"
"TRIGONOCEPHALY 1", "FGFR1"
"TRIGONOCEPHALY 2", "FREM1"
"TRIMETHYLAMINURIA", "FMO3"
"ARTHROGRYPOSIS, DISTAL, TYPE 7", "MYH8"
"TROPICAL CALCIFIC PANCREATITIS", "SPINK1"
"SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE", "SPG20"
"TUBEROUS SCLEROSIS 1", "TSC1"
"TUBEROUS SCLEROSIS 2", "IFNG"
"TUBEROUS SCLEROSIS 2", "TSC2"
"TUMOR PREDISPOSITION SYNDROME", "BAP1"
"TUMORAL CALCINOSIS, NORMOPHOSPHATEMIC, FAMILIAL", "SAMD9"
"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL", "GALNT3"
"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL", "KL"
"TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL", "FGF23"
"TYLOSIS WITH ESOPHAGEAL CANCER", "RHBDF2"
"TYROSINE KINASE 2 DEFICIENCY", "TYK2"
"TYROSINEMIA, TYPE I", "FAH"
"TYROSINEMIA, TYPE II", "TAT"
"TYROSINEMIA, TYPE III", "HPD"
"UV-SENSITIVE SYNDROME 1", "ERCC6"
"UV-SENSITIVE SYNDROME 2", "ERCC8"
"UV-SENSITIVE SYNDROME 3", "UVSSA"
"ULLRICH CONGENITAL MUSCULAR DYSTROPHY", "COL6A1"
"ULLRICH CONGENITAL MUSCULAR DYSTROPHY", "COL6A2"
"ULLRICH CONGENITAL MUSCULAR DYSTROPHY", "COL6A3"
"ULNA AND FIBULA, ABSENCE OF, WITH SEVERE LIMB DEFICIENCY", "WNT7A"
"ULNAR-MAMMARY SYNDROME", "TBX3"
"UROCANASE DEFICIENCY ", "UROC1"
"UROFACIAL SYNDROME", "HPSE2"
"USHER SYNDROME, TYPE IIIB", "HARS"
"USHER SYNDROME, TYPE I", "MYO7A"
"USHER SYNDROME, TYPE IC", "USH1C"
"USHER SYNDROME, TYPE ID", "PCDH15"
"USHER SYNDROME, TYPE ID", "CDH23"
"USHER SYNDROME, TYPE IF", "PCDH15"
"USHER SYNDROME, TYPE IG", "SANS"
"USHER SYNDROME, TYPE IIA", "USH2A"
"USHER SYNDROME, TYPE IIA", "PDZD7"
"USHER SYNDROME, TYPE IIC", "GPR98"
"USHER SYNDROME, TYPE IIC", "PDZD7"
"USHER SYNDROME, TYPE IID", "WHRN"
"USHER SYNDROME, TYPE IIIA", "CLRN1"
"USHER SYNDROME, TYPE IJ", "CIB2"
"VATER ASSOCIATION", "HOXD13"
"VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS", "ZIC3"
"VACTERL ASSOCIATION WITH HYDROCEPHALUS", "PTEN"
"ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF", "ACADVL"
"HYPEROSTOSIS CORTICALIS GENERALISATA", "SOST"
"VAN DEN ENDE-GUPTA SYNDROME", "SCARF2"
"VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY", "TREX1"
"VELOCARDIOFACIAL SYNDROME", "TBX1"
"VENOUS MALFORMATIONS, MULTIPLE CUTANEOUS AND MUCOSAL", "TEK"
"VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "SCN5A"
"VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, 2", "DPP6"
"VENTRICULAR SEPTAL DEFECT 1", "GATA4"
"VENTRICULAR SEPTAL DEFECT 2", "CITED2"
"VENTRICULAR SEPTAL DEFECT 3", "NKX2-5"
"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY", "RYR2"
"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 2", "CASQ2"
"VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4", "CALM1"
"VENTRICULAR TACHYCARDIA, FAMILIAL", "GNAI2"
"VESICOURETERAL REFLUX 2", "ROBO2"
"VESICOURETERAL REFLUX 3", "SOX17"
"VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A", "CYP27B1"
"VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 2", "VKORC1"
"VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1", "GGCX"
"VOHWINKEL SYNDROME, VARIANT FORM", "LOR"
"DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES", "GJB2"
"WHIM SYNDROME", "CXCR4"
"WAARDENBURG SYNDROME, TYPE 1", "PAX3"
"WAARDENBURG SYNDROME, TYPE 2A", "MITF"
"WAARDENBURG SYNDROME, TYPE 2D", "SNAI2"
"WAARDENBURG SYNDROME, TYPE 2E", "SOX10"
"WAARDENBURG SYNDROME, TYPE 3", "PAX3"
"WAARDENBURG SYNDROME, TYPE 4A", "EDNRB"
"WAARDENBURG SYNDROME, TYPE 4B", "EDN3"
"WAARDENBURG SYNDROME, TYPE 4C", "SOX10"
"ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS", "MITF"
"ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS", "TYR"
"WAGNER SYNDROME 1", "VCAN"
"WARBURG MICRO SYNDROME 1", "RAB3GAP1"
"WARBURG MICRO SYNDROME 2", "RAB3GAP2"
"WARBURG MICRO SYNDROME 3", "RAB18"
"WARSAW BREAKAGE SYNDROME ", "DDX11"
"WATSON SYNDROME", "NF1"
"WEAVER SYNDROME 2", "EZH2"
"WEAVER SYNDROME 1", "NSD1"
"WEILL-MARCHESANI SYNDROME 1", "ADAMTS10"
"WEILL-MARCHESANI SYNDROME 2", "FBN1"
"WEILL-MARCHESANI SYNDROME 3", "LTBP2"
"WEILL-MARCHESANI-LIKE SYNDROME ", "ADAMTS17"
"WEISSENBACHER-ZWEYMULLER SYNDROME", "COL11A2"
"WERNER SYNDROME", "RECQL2"
"WEYERS ACROFACIAL DYSOSTOSIS", "EVC"
"WHITE SPONGE NEVUS", "KRT4"
"WHITE SPONGE NEVUS", "KRT13"
"HAIRY ELBOWS, SHORT STATURE, FACIAL DYSMORPHISM, AND DEVELOPMENTAL DELAY", "MLL"
"WILMS TUMOR 2", "H19"
"WILMS TUMOR 1", "GPC3"
"WILMS TUMOR 1", "BRCA2"
"WILMS TUMOR 1", "WT1"
"WILSON DISEASE", "ATP7B"
"WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME", "HDAC8"
"WISKOTT-ALDRICH SYNDROME 2", "WIPF1"
"WISKOTT-ALDRICH SYNDROME", "WAS"
"EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS", "EIF2AK3"
"WOLFF-PARKINSON-WHITE SYNDROME", "PRKAG2"
"WOLFRAM SYNDROME 2", "CISD2"
"WOLFRAM SYNDROME 1", "WFS1"
"WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT", "WFS1"
"WOODHOUSE-SAKATI SYNDROME", "DCAF17"
"WOOLLY HAIR, AUTOSOMAL DOMINANT", "KRT74"
"WRINKLY SKIN SYNDROME", "ATP6V0A2"
"X INACTIVATION, FAMILIAL SKEWED, 1", "XIC"
"XFE PROGEROID SYNDROME", "ERCC4"
"XANTHINURIA, TYPE I", "XDH"
"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A", "XPA"
"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP B", "ERCC3"
"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C", "XPC"
"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D", "ERCC2"
"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E", "DDB2"
"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F", "ERCC4"
"XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G", "ERCC5"
"XERODERMA PIGMENTOSUM, VARIANT TYPE", "POLH"
"ERYTHROCYTE AMP DEAMINASE DEFICIENCY ", "AMPD3"
"ACETYLATION, SLOW", "NAT2"
"INCREASED ANALGESIA FROM KAPPA-OPIOID RECEPTOR AGONIST, FEMALE-SPECIFIC ", "MC1R"
"ANHAPTOGLOBINEMIA", "HP"
"APOCRINE GLAND SECRETION, VARIATION IN", "ABCC11"
"BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1", "UGT1A1"
"BIRBECK GRANULE DEFICIENCY", "CD207"
"BLOOD GROUP, CROMER SYSTEM", "CD55"
"GIL BLOOD GROUP ", "AQP3"
"BLOOD GROUP--LUTHERAN SYSTEM", "LU"
"BLOOD GROUP--COLTON", "AQP1"
"BLOOD GROUP--DIEGO SYSTEM", "SLC4A1"
"BLOOD GROUP, DUFFY SYSTEM", "DARC"
"BLOOD GROUP--FROESE", "SLC4A1"
"INDIAN BLOOD GROUP SYSTEM", "CD44"
"BLOOD GROUP, JOHN MILTON HAGEN SYSTEM", "SEMA7A"
"BLOOD GROUP--KELL SYSTEM", "KEL"
"BLOOD GROUP--KIDD SYSTEM", "SLC14A1"
"KNOPS BLOOD GROUP SYSTEM", "CR1"
"BLOOD GROUP SYSTEM, LANDSTEINER-WIENER", "ICAM4"
"BLOOD GROUP, LANGEREIS SYSTEM", "ABCB6"
"LUTHERAN NULL", "LU"
"BLOOD GROUP--OK", "BSG"
"BLOOD GROUP, P SYSTEM", "B3GALT3"
"BLOOD GROUP, P SYSTEM", "A4GALT"
"RADIN BLOOD GROUP ANTIGEN", "ERMAP"
"RAPH BLOOD GROUP SYSTEM", "CD151"
"BLOOD GROUP--RHESUS SYSTEM E POLYPEPTIDE", "RHCE"
"BLOOD GROUP, CHIDO/RODGERS SYSTEM", "C4A"
"BLOOD GROUP--SCIANNA SYSTEM", "ERMAP"
"BLOOD GROUP--SWANN SYSTEM", "SLC4A1"
"BLOOD GROUP--WALDNER TYPE", "SLC4A1"
"BLOOD GROUP--WRIGHT ANTIGEN", "SLC4A1"
"YT BLOOD GROUP ANTIGEN", "ACHE"
"BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12", "FBXO33"
"BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 15", "MIR2861"
"BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1", "LRP5"
"OSTEOPOROSIS", "CALCR"
"OSTEOPOROSIS", "COL1A1"
"OSTEOPOROSIS", "COL1A2"
"OSTEOPOROSIS", "RIL"
"OSTEOPOROSIS", "LRP5"
"CHITOTRIOSIDASE DEFICIENCY", "CHIT"
"DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA", "TTR"
"FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 5", "GCKR"
"FRUCTOSURIA, ESSENTIAL", "KHK"
"GILBERT SYNDROME", "UGT1A1"
"GLUTARIC ACIDURIA III", "C7orf10"
"GLYCEROL QUANTITATIVE TRAIT LOCUS", "AQP7"
"HAIR MORPHOLOGY 1", "EDAR"
"FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 6", "KLF1"
"HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 12", "LIPC"
"HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6", "SCARB1"
"HIGH MOLECULAR WEIGHT KININOGEN DEFICIENCY", "KNG1"
"HISTIDINEMIA", "HAL"
"INOSINE TRIPHOSPHATASE DEFICIENCY", "ITPA"
"INTERLEUKIN 6, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS", "IL6R"
"SOLUBLE INTERLEUKIN-6 RECEPTOR, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS", "IL6R"
"BLOOD GROUP, JUNIOR SYSTEM", "ABCG2"
"IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY", "IGKC"
"LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6", "SORT1"
"MALARIA, SUSCEPTIBILITY TO", "SLC4A1"
"MALARIA, SUSCEPTIBILITY TO", "GYPC"
"MALARIA, SUSCEPTIBILITY TO", "GYPA"
"MALARIA, SUSCEPTIBILITY TO", "CR1"
"MALARIA, SUSCEPTIBILITY TO", "ICAM1"
"MALARIA, SUSCEPTIBILITY TO", "NOS2A"
"MALARIA, SUSCEPTIBILITY TO", "CD36"
"MALARIA, SUSCEPTIBILITY TO", "TNF"
"MALARIA, SUSCEPTIBILITY TO", "CISH"
"MALARIA, SUSCEPTIBILITY TO", "FCGR2B"
"MALARIA, SUSCEPTIBILITY TO", "TIRAP"
"MALARIA, SUSCEPTIBILITY TO", "DARC"
"THIOUREA TASTING", "TAS2R38"
"PREMATURE CHROMATID SEPARATION TRAIT", "BUB1B"
"RESTING HEART RATE, VARIATION IN", "ADRB1"
"SHORT SLEEPER", "BHLHE41"
"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1", "HERC2"
"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1", "OCA2"
"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10", "TPCN2"
"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2", "MC1R"
"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3", "TYR"
"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 4", "SLC24A5"
"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5", "SLC45A2"
"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 6", "SLC24A4"
"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 7", "KITLG"
"SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9", "ASIP"
"SODIUM SERUM LEVEL QUANTITATIVE TRAIT LOCUS 1", "TRPV4"
"TRANSFERRIN SERUM LEVEL QUANTITATIVE TRAIT LOCUS 2", "HFE"
"URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1", "ABCG2"
"URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4", "SLC17A3"
"WHITE BLOOD CELL COUNT QUANTITATIVE TRAIT LOCUS 1", "DARC"
"VAN BUCHEM DISEASE, TYPE 2", "LRP5"
"VAN DER WOUDE SYNDROME 1", "IRF6"
"VON HIPPEL-LINDAU SYNDROME", "CCND1"
"VON HIPPEL-LINDAU SYNDROME", "VHL"
"PSEUDO-VON WILLEBRAND DISEASE", "GP1BA"
"VON WILLEBRAND DISEASE, TYPE 1", "VWF"
"VON WILLEBRAND DISEASE, TYPE 2", "VWF"
"VON WILLEBRAND DISEASE, TYPE 3", "VWF"
"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "IL10"
"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "HLA-C"
"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "CXCR1"
"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "IFNG"
"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "IL4R"
"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "CCL2"
"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "CXCL12"
"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "CCL11"
"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "CCL3L1"
"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "CX3CR1"
"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "CD209"
"HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO", "KIR3DL1"
"ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO", "MDM2"
"ALCOHOL DEPENDENCE", "ADH1B"
"ALCOHOL DEPENDENCE", "ADH1C"
"ALCOHOL DEPENDENCE", "GABRA2"
"ALCOHOL DEPENDENCE", "HTR2A"
"ALCOHOL DEPENDENCE", "TAS2R16"
"ALCOHOL DEPENDENCE", "RCBTB1"
"ALLERGIC RHINITIS", "IL13"
"AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1", "TRPM7"
"ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1", "HTR2A"
"BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2", "BDNF"
"ANXIETY", "SLC6A4"
"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1", "TERT"
"APLASTIC ANEMIA", "IFNG"
"PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2", "TERC"
"ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 1", "NLGN3"
"ASPERGER SYNDROME, X-LINKED, SUSCEPTIBILITY TO, 2", "NLGN4"
"ASPERGILLOSIS, SUSCEPTIBILITY TO ", "CLEC7A"
"ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5", "IRAK3"
"ASTHMA, SUSCEPTIBILITY TO", "ADRB2"
"ASTHMA, SUSCEPTIBILITY TO", "IL13"
"ASTHMA, SUSCEPTIBILITY TO", "ALOX5"
"ASTHMA, SUSCEPTIBILITY TO", "MUC7"
"ASTHMA, SUSCEPTIBILITY TO", "IL12B"
"ASTHMA, SUSCEPTIBILITY TO", "TNF"
"ASTHMA, SUSCEPTIBILITY TO", "SCGB1A1"
"ASTHMA, SUSCEPTIBILITY TO", "CCL11"
"ASTHMA, SUSCEPTIBILITY TO", "PLA2G7"
"ASTHMA, SUSCEPTIBILITY TO", "HNMT"
"ASTHMA, SUSCEPTIBILITY TO", "SCGB3A2"
"ASTHMA, SUSCEPTIBILITY TO", "PHF11"
"ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1", "PTGDR"
"ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2", "NPSR1"
"ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7", "CHI3L1"
"ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7", "TPH2"
"ATTENTION DEFICIT-HYPERACTIVITY DISORDER", "DRD4"
"ATTENTION DEFICIT-HYPERACTIVITY DISORDER", "DRD5"
"ATYPICAL MYCOBACTERIOSIS, FAMILIAL, X-LINKED 1", "IKBKG"
"AUTISM, SUSCEPTIBILITY TO, 10", "EN2"
"AUTISM, SUSCEPTIBILITY TO, 15", "CNTNAP2"
"AUTISM, SUSCEPTIBILITY TO, 16", "SLC9A9"
"AUTISM, SUSCEPTIBILITY TO, 17", "SHANK2"
"AUTISM, SUSCEPTIBILITY TO, X-LINKED 1", "NLGN3"
"AUTISM, SUSCEPTIBILITY TO, X-LINKED 3", "MECP2"
"AUTISM, SUSCEPTIBILITY TO, 9", "MET"
"AUTISM, SUSCEPTIBILITY TO, X-LINKED 5", "RPL10"
"AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 1", "FOXD3"
"AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6", "SIAE"
"AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3", "TG"
"AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3", "ZFAT1"
"BACTEREMIA, SUSCEPTIBILITY TO, 1", "TIRAP"
"BACTEREMIA, SUSCEPTIBILITY TO, 2", "CISH"
"BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 7", "TP53"
"BLEEDING DISORDER, PLATELET-TYPE, 13, SUSCEPTIBILITY TO", "TBXA2R"
"BLEPHAROSPASM, BENIGN ESSENTIAL ", "DRD5"
"BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1", "BRCA1"
"BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2", "BRCA2"
"BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3", "RAD51C"
"BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4", "RAD51L3"
"BUDD-CHIARI SYNDROME", "JAK2"
"BUDD-CHIARI SYNDROME", "F5"
"BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1", "BDNF"
"BURULI ULCER, SUSCEPTIBILITY TO", "NRAMP1"
"CARDIAC CONDUCTION DEFECT", "AKAP10"
"CELIAC DISEASE, SUSCEPTIBILITY TO, 3", "CTLA4"
"CELIAC DISEASE, SUSCEPTIBILITY TO, 4", "MYO9B"
"CELIAC DISEASE", "HLA-DQA1"
"CELIAC DISEASE", "HLA-DQB1"
"STROKE, ISCHEMIC", "NOS3"
"STROKE, ISCHEMIC", "F2"
"STROKE, ISCHEMIC", "ALOX5AP"
"STROKE, ISCHEMIC", "PRKCH"
"STROKE, ISCHEMIC", "F5"
"MANNOSE-BINDING PROTEIN DEFICIENCY", "MBL2"
"CIRRHOSIS, FAMILIAL", "KRT8"
"CIRRHOSIS, FAMILIAL", "KRT18"
"DRUG METABOLISM, POOR, CYP2D6-RELATED", "CYP2D6"
"COLCHICINE RESISTANCE", "ABCB1"
"COLORECTAL CANCER, SUSCEPTIBILITY TO, 1", "GALNT12"
"COLORECTAL CANCER, SUSCEPTIBILITY TO, 3", "SMAD7"
"CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT, 1", "MEF2A"
"CORONARY ARTERY DISEASE, AUTOSOMAL DOMINANT 2", "LRP6"
"CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1", "CX3CR1"
"CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5", "KALRN"
"CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 6", "MMP3"
"CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7", "CD36"
"INFLAMMATORY BOWEL DISEASE 1", "IL6"
"INFLAMMATORY BOWEL DISEASE 1", "NOD2"
"DEAFNESS, AMINOGLYCOSIDE-INDUCED", "TRMU"
"DELAYED SLEEP PHASE SYNDROME, SUSCEPTIBILITY TO", "AANAT"
"DENGUE VIRUS, SUSCEPTIBILITY TO", "CD209"
"DERMATITIS, ATOPIC, 2", "FLG"
"DIABETES MELLITUS, INSULIN-DEPENDENT, 22", "CCR5"
"DIABETES MELLITUS, INSULIN-DEPENDENT, 5", "SUMO4"
"DIABETES MELLITUS, INSULIN-DEPENDENT, 12", "CTLA4"
"DIABETES MELLITUS, INSULIN-DEPENDENT", "HNF1A"
"DIABETES MELLITUS, INSULIN-DEPENDENT", "IL6"
"DIABETES MELLITUS, INSULIN-DEPENDENT", "OAS1"
"DIABETES MELLITUS, INSULIN-DEPENDENT", "FOXP3"
"DIABETES MELLITUS, INSULIN-DEPENDENT", "PTPN22"
"DIABETES MELLITUS, NONINSULIN-DEPENDENT, 1", "CAPN10"
"DIABETES MELLITUS, INSULIN-DEPENDENT, 10", "IL2RA"
"DYSLEXIA, SUSCEPTIBILITY TO, 1", "DYX1C1"
"DYSLEXIA, SUSCEPTIBILITY TO, 2", "KIAA0319"
"ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3", "RANBP2"
"ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4", "CPT2"
"HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 4", "TICAM1"
"FOCAL SEGMENTAL GLOMERULOSCLEROSIS 4, SUSCEPTIBILITY TO", "APOL1"
"EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2", "GABRG2"
"EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5", "GABRA1"
"EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5", "GABRB3"
"EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6", "CACNA1H"
"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 10", "GABRD"
"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11", "CLCN2"
"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 8", "CASR"
"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9", "CACNB4"
"EPILEPSY, IDIOPATHIC GENERALIZED", "ME2"
"EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12", "SLC2A1"
"EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1", "EFHC1"
"TREMOR, HEREDITARY ESSENTIAL, 1", "DRD3"
"EXFOLIATION SYNDROME", "LOXL1"
"GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO", "OPTN"
"GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO", "OPA1"
"GLIOMA SUSCEPTIBILITY 3", "BRCA2"
"GLIOMA SUSCEPTIBILITY 2", "PTEN"
"GLUCOCORTICOID THERAPY, RESPONSE TO", "GLCCI1"
"GRAFT-VERSUS-HOST DISEASE, SUSCEPTIBILITY TO", "IL10"
"HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO ", "IFNGR1"
"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1", "HF1"
"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1", "CFHR1"
"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1", "CFHR3"
"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2", "MCP"
"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 3", "CFI"
"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4", "CFB"
"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 5", "C3"
"HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6", "THBD"
"HEPATITIS C VIRUS, SUSCEPTIBILITY TO", "IFNG"
"HEPATITIS C VIRUS, SUSCEPTIBILITY TO", "PTPRC"
"HEPATITIS C VIRUS, SUSCEPTIBILITY TO", "CCR5"
"HEPATITIS C VIRUS, SUSCEPTIBILITY TO", "IL28B"
"HEPATITIS B VIRUS, SUSCEPTIBILITY TO", "IFNGR1"
"HEPATITIS B VIRUS, SUSCEPTIBILITY TO", "CRFB4"
"HEPATITIS B VIRUS, SUSCEPTIBILITY TO", "IFNAR2"
"HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 3", "TRAF3"
"HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1", "RET"
"HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2", "EDNRB"
"HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 3", "GDNF"
"HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4", "EDN3"
"HYPERCALCIURIA, ABSORPTIVE, 2", "SAC"
"HYPERLIPIDEMIA, COMBINED, 1", "USF1"
"SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO", "HLA-A"
"SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO", "HLA-B"
"HYPERTENSION, DIASTOLIC, RESISTANCE TO ", "KCNMB1"
"PREECLAMPSIA/ECLAMPSIA 1", "EPHX1"
"PREECLAMPSIA/ECLAMPSIA 1", "NOS3"
"HYPERTRIGLYCERIDEMIA, FAMILIAL ", "RP1"
"HYPERTRIGLYCERIDEMIA, FAMILIAL ", "APOA5"
"HYPERTRIGLYCERIDEMIA, FAMILIAL ", "LIPI"
"HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA", "HS6ST1"
"HYPOTHALAMIC HAMARTOMAS", "GLI3"
"HASHIMOTO THYROIDITIS", "CTLA4"
"INFLAMMATORY BOWEL DISEASE 10", "ATG16L1"
"INFLAMMATORY BOWEL DISEASE 13", "ABCB1"
"INFLAMMATORY BOWEL DISEASE 14", "IRF5"
"INFLAMMATORY BOWEL DISEASE 17", "IL23R"
"INFLUENZA, SEVERE, SUSCEPTIBILITY TO ", "IFITM3"
"INTERVERTEBRAL DISC DISEASE", "COL9A2"
"INTERVERTEBRAL DISC DISEASE", "COL9A3"
"INTERVERTEBRAL DISC DISEASE", "COL11A1"
"INTERVERTEBRAL DISC DISEASE", "THBS2"
"INTERVERTEBRAL DISC DISEASE", "CILP"
"INTERVERTEBRAL DISC DISEASE", "ASPN"
"ARTERIOVENOUS MALFORMATIONS OF THE BRAIN", "IL6"
"KAPOSI SARCOMA, SUSCEPTIBILITY TO", "IL6"
"KAWASAKI DISEASE", "ITPKC"
"KURU, SUSCEPTIBILITY TO ", "PRNP"
"LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO ", "TLR5"
"LEPROSY, SUSCEPTIBILITY TO, 5", "TLR1"
"LEPROSY, SUSCEPTIBILITY TO, 4", "LTA"
"LEPROSY, SUSCEPTIBILITY TO, 3", "TLR2"
"LEPROSY, SUSCEPTIBILITY TO, 2", "PRKN"
"LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO", "LMNB2"
"SMOKING AS A QUANTITATIVE TRAIT LOCUS 3", "CHRNA3"
"SMOKING AS A QUANTITATIVE TRAIT LOCUS 3", "CHRNA5"
"FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1", "BCL10"
"MACULAR DEGENERATION, AGE-RELATED, 10", "TLR4"
"MACULAR DEGENERATION, AGE-RELATED, 12", "CX3CR1"
"MACULAR DEGENERATION, AGE-RELATED, 1", "APOE"
"MACULAR DEGENERATION, AGE-RELATED, 1", "CFHR1"
"MACULAR DEGENERATION, AGE-RELATED, 1", "CFB"
"MACULAR DEGENERATION, AGE-RELATED, 1", "CFHR3"
"MACULAR DEGENERATION, AGE-RELATED, 1", "HMCN1"
"MACULAR DEGENERATION, AGE-RELATED, 1", "C2"
"MACULAR DEGENERATION, AGE-RELATED, 4", "HF1"
"MACULAR DEGENERATION, AGE-RELATED, 7", "HTRA1"
"MACULAR DEGENERATION, AGE-RELATED, 8", "LOC387715"
"MACULAR DEGENERATION, AGE-RELATED, 9", "C3"
"MACULAR DEGENERATION, AGE-RELATED, 5", "ERCC6"
"MAJOR AFFECTIVE DISORDER 7", "XBP1"
"MAJOR AFFECTIVE DISORDER 1", "SLC6A3"
"MAJOR DEPRESSIVE DISORDER", "HTR2A"
"MAJOR DEPRESSIVE DISORDER", "FKBP5"
"MAJOR DEPRESSIVE DISORDER", "TPH2"
"MALARIA, MILD, SUSCEPTIBILITY TO", "NCR3"
"MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1", "RYR1"
"MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5", "CACNA1S"
"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 2", "CDKN2A"
"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3", "CDK4"
"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 5", "MC1R"
"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 6", "XRCC3"
"MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8", "MITF"
"ABDOMINAL OBESITY-METABOLIC SYNDROME", "MTP"
"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 1", "VEGF"
"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2", "EPO"
"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 3", "ACE"
"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 4", "IL1RN"
"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 5", "PON1"
"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 6", "SOD2"
"MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 7", "HFE"
"MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13", "KCNK18"
"MOYAMOYA DISEASE 2", "RNF213"
"MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO", "HLA-DRB1"
"MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO", "PDCD1"
"MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO", "HLA-DQB1"
"MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO, 5", "TNFRSF1A"
"MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO", "TGFBR1"
"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "IFNGR1"
"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "IFNG"
"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "MC3R"
"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "CCL2"
"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "NRAMP1"
"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "CISH"
"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "SP110"
"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "CD209"
"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "TIRAP"
"MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO", "IRGM"
"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "ESR1"
"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "F13A1"
"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "LGALS2"
"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "LTA"
"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "ITGB3"
"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "GCLM"
"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "LRP8"
"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "OLR1"
"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "PSMA6"
"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "TNFSF4"
"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "GCLC"
"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "MIAT"
"MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO", "F7"
"EPILEPSY, MYOCLONIC JUVENILE", "EFHC1"
"NEPHROLITHIASIS, URIC ACID, SUSCEPTIBILITY TO", "ZNF365"
"NEURAL TUBE DEFECTS, FOLATE-SENSITIVE", "MTR"
"NEURAL TUBE DEFECTS, FOLATE-SENSITIVE", "MTHFD"
"NEURAL TUBE DEFECTS, FOLATE-SENSITIVE", "MTRR"
"NEURAL TUBE DEFECTS, FOLATE-SENSITIVE", "MTHFR"
"NEUROBLASTOMA, SUSCEPTIBILITY TO, 3", "ALK"
"TOBACCO ADDICTION, SUSCEPTIBILITY TO", "CHRNA4"
"TOBACCO ADDICTION, SUSCEPTIBILITY TO", "CYP2A6"
"TOBACCO ADDICTION, SUSCEPTIBILITY TO", "SLC6A3"
"TOBACCO ADDICTION, SUSCEPTIBILITY TO", "GPR51"
"NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO", "GP1BA"
"BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 9", "MC3R"
"BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 11", "SLC6A14"
"BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 12", "PCSK1"
"BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4", "UCP2"
"BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10", "O3FAR1"
"OBSESSIVE-COMPULSIVE DISORDER", "BDNF"
"OBSESSIVE-COMPULSIVE DISORDER", "HTR2A"
"OBSESSIVE-COMPULSIVE DISORDER", "SLC6A4"
"OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1", "ME2"
"OSTEOARTHRITIS SUSCEPTIBILITY 1", "FRZB"
"OSTEOARTHRITIS SUSCEPTIBILITY 2", "MATN3"
"OSTEOARTHRITIS SUSCEPTIBILITY 3", "ASPN"
"OSTEOARTHRITIS SUSCEPTIBILITY 5", "GDF5"
"PANCREATIC CANCER, SUSCEPTIBILITY TO, 1", "PALLD"
"PANCREATIC CANCER, SUSCEPTIBILITY TO, 3", "PALB2"
"PANCREATIC CANCER, SUSCEPTIBILITY TO, 4", "BRCA1"
"PANIC DISORDER 1", "COMT"
"PARKINSON DISEASE 5, AUTOSOMAL DOMINANT", "UCHL1"
"PARKINSON DISEASE, LATE-ONSET", "ADH1C"
"PARKINSON DISEASE, LATE-ONSET", "MAPT"
"PARKINSON DISEASE, LATE-ONSET", "TBP"
"PARKINSON DISEASE, LATE-ONSET", "GBA"
"PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1", "F5"
"PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2", "F2"
"PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3", "ANXA5"
"PRETERM PREMATURE RUPTURE OF THE MEMBRANES", "SERPINH1"
"PROSTATE CANCER, HEREDITARY, 12", "EHBP1"
"PROSTATE CANCER, HEREDITARY, 13", "MSMB"
"PROSTATE CANCER, HEREDITARY, 2", "ELAC2"
"PSEUDOFOLLICULITIS BARBAE", "KRT75"
"PSORIASIS SUSCEPTIBILITY 13", "TRAF3IP2"
"PSORIASIS SUSCEPTIBILITY 1", "HLA-C"
"PSORIASIS SUSCEPTIBILITY 2", "CARD14"
"PSORIASIS SUSCEPTIBILITY 7", "IL23R"
"PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO, 1", "LTA"
"PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO, 1", "NOD2"
"RENAL DYSPLASIA, CYSTIC, SUSCEPTIBILITY TO", "BICC1"
"RHEUMATOID ARTHRITIS", "IL10"
"RHEUMATOID ARTHRITIS", "HLA-DRB1"
"RHEUMATOID ARTHRITIS", "MHC2TA"
"RHEUMATOID ARTHRITIS", "PTPN22"
"RHEUMATOID ARTHRITIS", "NFKBIL1"
"RHEUMATOID ARTHRITIS", "SLC22A4"
"RHEUMATOID ARTHRITIS", "PADI4"
"RHEUMATOID ARTHRITIS", "CD244"
"RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE", "IL6"
"RHEUMATOID ARTHRITIS, SYSTEMIC JUVENILE", "MIF"
"SARCOIDOSIS, SUSCEPTIBILITY TO, 1", "HLA-DRB1"
"SARCOIDOSIS, SUSCEPTIBILITY TO, 2", "BTNL2"
"SCHIZOPHRENIA", "COMT"
"SCHIZOPHRENIA", "DRD3"
"SCHIZOPHRENIA", "HTR2A"
"SCHIZOPHRENIA", "SYN2"
"SCHIZOPHRENIA", "CHI3L1"
"SCHIZOPHRENIA", "DISC1"
"SCHIZOPHRENIA", "RTN4R"
"SCHIZOPHRENIA", "GPR48"
"SCHIZOPHRENIA", "MTHFR"
"SCHIZOPHRENIA 15", "SHANK3"
"SCHIZOPHRENIA 17", "NRXN1"
"SCHIZOPHRENIA 4", "PRODH"
"SCHIZOPHRENIA 9", "DISC1"
"SCOLIOSIS, IDIOPATHIC, SUSCEPTIBILITY TO, 3", "CHD7"
"SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO", "MYH6"
"SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1", "HLA-B"
"HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO", "ACE"
"HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO", "COL4A2"
"STROKE, SUSCEPTIBILITY TO, 1", "PDE4D"
"SUDDEN INFANT DEATH SYNDROME", "SCN5A"
"SYSTEMIC LUPUS ERYTHEMATOSUS", "DNASE1"
"SYSTEMIC LUPUS ERYTHEMATOSUS", "PTPN22"
"SYSTEMIC LUPUS ERYTHEMATOSUS", "FCGR2B"
"SYSTEMIC LUPUS ERYTHEMATOSUS", "TREX1"
"SYSTEMIC LUPUS ERYTHEMATOSUS", "BANK1"
"SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 1", "TLR5"
"SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10", "IRF5"
"SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 2", "PDCD1"
"SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9", "CR2"
"SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 11", "STAT4"
"SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 6", "ITGAM"
"THYROID CARCINOMA, HURTHLE CELL", "NDUFA13"
"THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1", "CACNA1S"
"THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2", "KCNJ18"
"VITAMIN B12 PLASMA LEVEL QUANTITATIVE TRAIT LOCUS 1", "FUT2"
"VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1", "NALP1"
"WEST NILE VIRUS, SUSCEPTIBILITY TO", "CCR5"
"WILMS TUMOR 5", "POU6F2"